Eagle 's Syndrome is an aggregate of symptoms described by Eagle in He described different forms: the classic styloid syndrome consisting of elongation of the styloid process which causes pain. Second, the stylo-carotid-artery syndrome which is responsible for transient ischemic attack or stroke. Using the example of a 66 years old male patient suffering from long term pain, we explain our diagnostic and surgical approach.
After dissecting the styloid process of the right side using an extraoral approach, the pain ceased and the patient could be discharged without any recurrence of the pain up to this point. Eagle 's syndrome , with its similar symptoms, is rather difficult to differentiate from temporomandibular joint disorders TMD , but can be easily excluded from possible differential diagnoses of TMD using panoramic radiographs and ultrasound. Making use of low cost and easily accessible diagnostic workup techniques can reveal this particular cause for chronic pain restricting quality of life.
Thereby differentiation from the TMD symptomatic complex is possible. Published by Elsevier Ltd.. All rights reserved. Eagle 's syndrome : report of two cases using computed tomography. Two cases of Eagle 's syndrome are reported. The first case involved a year-old man who complained of pain in his throat and pain at preauricular area on turning his head. Panoramic and computed tomography CT views showed bilateral stylohyoid ligament ossification.
The symptoms were relieved after surgical removal. The second case involved a year-old female whose chief complaints were a continuous dull pain and occasional 'shooting' pain on lower left molar area. During the physical examination, an ossified stylohyoid ligament was palpated at the left submandibular area. Panoramic and CT images showed prominent bilateral stylohyoid ligament ossification. CT scans also showed hypertrophy of left medial and lateral pterygoid muscles. The symptoms were relieved after medication.
CT is a useful tool for the examination of ossified stylohyoid ligaments and studying the relationship between Eagle 's syndrome and adjacent soft tissue. Eagle 's syndrome associated with lingual nerve paresthesia: a case report. Eagle 's syndrome is characterized by a variety of symptoms, including throat pain, sensation of a foreign body in the pharynx, dysphagia, referred otalgia, and neck and throat pain exacerbated by head rotation.
Any styloid process longer than 25 mm should be considered elongated and will usually be responsible for Eagle 's syndrome. Surgical resection of the elongated styloid is a routine treatment and can be accomplished using a transoral or an extraoral approach. We report a patient with a rare giant styloid process that was approximately He complained of a rare symptom: hemitongue paresthesia. After removal of the elongated styloid process using the extraoral approach, his symptoms, including the hemitongue paresthesia, were alleviated.
We concluded that if the styloid process displays medium to severe elongation, the extraoral approach will be appropriate. Published by Elsevier Inc. A case of unilateral atypical orofacial pain with Eagle 's syndrome. Full Text Available Eagle 's syndrome is not an uncommon condition, but less known to physicians, where an elongated styloid process or calcified stylohyoid ligament compresses the adjacent anatomical structures leading to orofacial pain. Diagnosis is made with appropriate radiological examination. Nonsurgical treatment options include reassurance, analgesia, and anti.
Here, we present a case report of a male patient, of age38 years, with a chief complaint of unilateral atypical orofacial pain on the right side of his face radiating to the neck region, for the last two months. A rare fatality due to calcified stylohyoid ligament Eagle syndrome. The elongation or calcification of the stylohyoid ligament that leads to pressure symptoms, or entrapment of nearby glossopharyngeal nerve or carotid artery, is known as Eagle syndrome.
A PubMed search leads to finding of rare fatality among the 49 reported cases. In the present case, the deceased was a year-old male who choked on his food. We hypothesise that the impaction of food in the upper respiratory tract, as well as the inability to intubate the person, were both the result of the calcified stylohyoid ligament. Ossification of the stylohyoid chain on computed tomograms - Eagle syndrome. The computed tomographic morphology of a typical Eagle syndrome is presented on the basis of a case history. In a year-old female patient presenting with bilateral tinnitus, globus hystericus, and increasing hoarseness computed tomography revealed bilateral ossification of the stylohyoid ligament.
The incidence of stylalgia is very low in comparison to the occurrence of a elongated styloid process or an ossified stylohyoid ligament. However, in cases of unexplained complaints in the head and neck region it should be considered in the differential diagnosis as it has therapeutic consequences. Ossification of the stylohyoid chain on computed tomograms - Eagle syndrome ; Die Ossifikation der stylohyoidalen Kette im Computertomogramm - Eagle-Syndrom.
Franziskus, Grieskirchen Austria. Die Inzidenz einer Stylalgie ist verglichen mit der Praevalenz eines elongierten Processus styloideus oder einem verknoecherten Ligamentum stylochyoideum sehr selten. Sie sollte jedoch bei ungeklaerten Beschwerden im Kopf-Halsbereich differentialdiagnostisch in Erwaegung gezogen werden, da sie therapeutische Konsequenzen nach sich zieht. Bouveret's Syndrome : diagnostic considerations. Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet.
To date, no report of this entity using computed tomographic CT imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal GI tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome. The role of 3D-printing technology in the diagnosis of Eagle syndrome : A case report. Eagle syndrome is a rare clinical condition that can be associated with elongation of the styloid process.
A year-old man was presented with vague throat discomfort for several years. The patient has been treated medically, and continues to demonstrate improvement with conservative treatment for 2 years. Whole body staging stands at the beginning of the diagnostic algorithm in CUP syndrome to localize a potential primary tumor. Clinically, contrast-enhanced CT of the neck, thorax and abdomen is frequently applied; however, many studies have demonstrated augmented sensitivity of 18 F-FDG PET-CT for the detection of primary tumors and metastatic tumor manifestations.
Full Text Available The practical guidelines on diagnosis and management of hepatorenal syndrome , which could be useful for general medical practitioners, gastroenterologists, and hepatologists, are considered in this paper. Selected recommendations are based on integrated clinical data, international recommendations and results of clinical trials. Beginning from theoretical grounds of hepatorenal syndrome its definition, diagnostic criteria, and classification, acute kidney injury, and spontaneous bacterial peritonitis, the paper contains diagnostic algorithms in particular, in ascites, for early revealing hepatorenal syndrome , and main approaches to therapy and prevention.
The efficacy criteria and monitoring rules for the terlipressin-based therapy are listed. Alternative diagnostic technique for carpal tunnel syndrome. Compressive and entrapment neuropathies are common clinical syndromes characterized by neurologic deficits due to mechanical or dynamic compression of peripheral nerves. However, the definitive diagnosis based on clinical symptoms alone is difficult in many cases, and the electrophysiological diagnostic method is solely used as a supplementary diagnostic method at present.
As a new diagnostic method for entrapment neuropathy, the present study investigated the usefulness of gadolinium-enhanced MRI in carpal tunnel syndrome. On enhanced MRI of idiopathic carpal tunnel syndrome , contrast-enhancement in the median nerve was found in 30 of 34 hands Enhanced MRI allows to visualize intraneural edema in the nerve easily on the naked eye. Therefore, this technique supplied useful information for making definitive diagnosis and is promising as a non-invasive diagnostic method for entrapment neuropathy.
School of Medicine. Diagnostic criteria for Susac syndrome. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. Laugier-Hunziker syndrome : A diagnostic dilemma? Full Text Available Laugier-Hunziker syndrome LHS is an idiopathic hypermelanotic condition that displays a characteristic pattern of mucosal, acral and nail pigmentation.
The etiology is unknown, while its benign nature has been repeatedly highlighted. Owing to close resemblance to more serious disorders, it is necessary that the diagnostic features are understood; and thereby we report two sporadic cases of LHS in different age groups displaying varied presentations with identifiable features. Visual acuity in adults with Asperger's syndrome : no evidence for " eagle -eyed" vision. Autism spectrum conditions ASC are defined by criteria comprising impairments in social interaction and communication.
Altered visual perception is one possible and often discussed cause of difficulties in social interaction and social communication. Recently, Ashwin et al. The present study investigated visual acuity thresholds in 24 adults with Asperger's syndrome and compared their results with 25 control subjects with the 2 Meter Series Revised ETDRS Chart. The distribution of visual acuities within the two groups was highly similar, and none of the participants had superior visual acuity.
Superior visual acuity in individuals with Asperger's syndrome could not be established, suggesting that differences in visual perception in ASC are not explained by this factor. A continued search for explanations of superior ability in local visual processing in persons with ASC is therefore warranted.
Although these assays have been used clinically for many years, there are still problems with the accurate diagnosis of patients with this syndrome. For example, lupus anticoagulant testing can be difficult to interpret in patients receiving anticoagulant therapy, but most patients with a thromboembolic event will already be anticoagulated before the decision to perform the tests has been made.
In addition to understanding limitations of the assays, clinicians also need to be aware of which patients should be tested and not obtain testing on patients unlikely to have APS. New tests and diagnostic strategies are in various stages of development and should help improve our ability to accurately diagnose this important clinical disorder.
Intrapartum diagnostic of Roberts syndrome - case presentation. Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities called "pseudothalidomide disease". There are only around cases described in literature. We present a case of Roberts syndrome , diagnosed in moment of delivery, after a pregnancy without prenatal follow-up.
The stillborn baby was naturally delivered by a year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia.
Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies.
To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission. Full Text Available Restless legs syndrome RLS, also known as Willis-Ekbom disease, is a chronic movement disorder, characterized by an urge to move legs usually accompanied by uncomfortable sensations and sleep disorders.
RLS is the most common movement disorder in pregnancy. However RLS still remains underdiagnosed probably due to lack of accurate information about the disease. The secondary form of the syndrome is associated with iron deficiency, renal failure, pregnancy, diabetes mellitus and many rheumatologic disorders. Secondary forms generally manifest at older ages and have a rapid progression with a poorer prognosis.
The pathophysiology of RLS is focused on the dopaminergic system, reduced central nervous system iron levels and genetic linkages. Secondary causes must be carefully investigated before the treatment. In mild forms of the disease non-pharmacologic therapies might be useful, while in moderate or severe forms of the disease generally pharmacologic therapies such as dopamine agonists, anticonvulsants, opioids and benzodiazepines are required.
Turkish Journal of Osteoporosis ; Normal live births after intracytoplasmic sperm injection in a man with the rare condition of Eagle -Barrett syndrome prune-belly syndrome. Case report. Assisted conception unit within a private hospital. An infertile couple. An infertile couple received repeated treatment with ICSI. Clinical pregnancy and a normal live birth. In , after microinjection of ten oocytes, the transfer of a single expanded blastocyst led to the premature birth of a morphologically normal male infant at 18 weeks' gestation.
This outcome followed preterm rupture of membranes and possible cervical incompetence. In , after microinjection of six oocytes, transfer of a single 5-cell embryo led to a singleton pregnancy, with emergency cervical cerclage being performed at 21 weeks. A healthy male infant was born at 30 weeks, with no evidence of EBS, by lower-segment cesarean section for breech presentation and premature labor.
In , after elective laparoscopic placement of cervical suture, microinjection of ten oocytes and transfer of a single 4-cell embryo led to a singleton pregnancy with a healthy male infant, with no evidence of EBS, being born by cesarean section at 38 weeks. Radiological, sonographic and radionuclide diagnostics in headache syndrome.
The complex diagnostics of the headache syndrome is taken as an example for the necessity to apply imaging procedures in a purposeful way in diagnostic strategy. Cooperation of the clinical partners involved is of particular importance in control of the diagnostic process. Differential diagnostic of the burnout syndrome. There is no evidence for stigmatization of persons with burnout.
The evidence of the majority of the studies is predominantly low. Most of the studies are descriptive and explorative. Objective data like medical parameters, health status, sick notes or judgements by third persons are extremely seldomly included in the studies. The sample construction is coincidental in the majority of cases, response rates are often low.
Almost no longitudinal studies are available. There are insufficient results on the stability and the duration of related symptoms. The ambiguity of the burnout diagnosis is regularly neglected in the studies. The authors conclude, that 1 further research, particularly high-quality studies are needed, to broaden the understanding of the burnout syndrome. Equally 2 a definition of the burnout syndrome has to be found which goes beyond the published understanding of burnout and is based on common scientific consent.
Furthermore, there is a need 3 for finding a standardized, international accepted and valid procedure for the differentiated diagnostics of burnout and for 4 developing a third party assessment tool for the diagnosis of burnout. Finally, 5 the economic effects and implication of burnout diagnostics on the economy, the health insurances and the patients have to be analysed.
Discussion: The evidence of the majority of the studies is predominantly low. Conclusions: The authors conclude, that 1 further research, particularly high-quality studies are needed, to broaden the understanding of the burnout syndrome. Developing diagnostic guidelines for the acute radiation syndrome. Diagnostic guidelines seem to be promising for improving medical care. One aspect of a diagnostic guideline for the acute radiation syndrome has been tested against an extensive case history database.
Subsequently, the guideline has been optimized for a small set of case histories. The improved performance has been proven by a test against the rest of the case history database. Fetal alcohol syndrome — causes, diagnostic criteria and prevalence. Fetal alcohol syndrome FAS is the outcome of alcohol exposition in the prenatal period. It is irreversible.
In Poland, FAS is becoming more and more common, the diagnostic tools are limited though. It is recommended to use the 4-Digit Diagnostic Code, which evaluates the 4 basic FAS symptoms: growth retardation, dysmorphic appearance, damage to the central nervous system and prenatal alcohol exposure. Lethal midline granuloma syndrome : a diagnostic dilemma.
The rare lethal midline granuloma syndrome is difficult to diagnose because of the wide array of related diseases and lack of knowledge by the majority of physicians. In the present report, the authors describe the case of a patient with this disease, caused by squamous cell carcinoma, drawing attention to differential diagnoses and to clinical and radiological findings that may be useful to define the diagnosis. Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness.
The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset. In Germany, Usher syndrome currently bears particular relevance because in January a new compulsory screening of auditory function in newborn infants was introduced. Consequently, it can be expected that a higher number of patients with Usher syndrome will be identified in early childhood and referred to ophthalmologists.
The focus of this work is to introduce the typical clinical picture of Usher syndrome , summarize diagnostic options, and give an overview of therapeutic strategies. Full Text Available Polycystic ovarian syndrome PCOS is the commonest endocrinopathy in women with a multi-factorial etiology, and presents not just a diagnostic dilemma but also a therapeutic challenge as well.
Most women presenting with non-pregnancy related secondary amenorrhea, oligomenorrhoea, acne, hirsutism, and infertility have PCOS. PCOS needs to be suspected, recognized, and treated to prevent some long term complications. Treatment modalities need to be individualized to address the specific concerns of each female presenting with this entity. This article reviews the diagnosis and principles of management of PCOS. Herein, we discussed a case of an otherwise healthy man who presented with progressive gait imbalance and ataxia, found to have small cell lung cancer.
Based upon our clinical findings and laboratory data, a diagnosis of paraneoplastic cerebellar degeneration was made. Paraneoplastic neurological syndromes PNS are relatively rare but diverse and always should be considered in differentials. A diagnostic algorithm along with appropriate work up is discussed here. Diagnostic features of polycystic ovary syndrome in adolescents review. The problem of Polycystic Ovary Syndrome PCOS is of a special importance due to its connection with not only medical but with psychosocial factors.
PCOS is the most common endocrine cause of anovulatory infertility. It is a major factor for the metabolic syndrome , cardiovascular disease, type 2 diabetes mellitus T2DM. Clinical symptoms of PCOS such as acne, hirsutism, obesity, alopecia represent psychological problem, especially for the adolescents.
Many women who have PCOS have the onset of symptoms during adolescence. Early diagnosis and treatment of PCOS are important for preventing of the above mentioned long-term consequences associated with this condition. Adolescent patients often have diagnostic problems because the features of normal puberty are similar with symptoms of PCOS. This article reviews the diagnostic and differential diagnostic characteristics of PCOS in adolescents.
In conclusion, consensus statement in adolescent patients is still awaiting. Our data suggest that it may be prudent to define adolescent PCOS according to the Carmina modified Rotterdam criteria. The increase rate of metabolic syndrome in adolescents with PCOS emphasize the importance of regular screening due to the high cardiometabolic disorders risk.
Catatonia versus neuroleptic malignant syndrome : the diagnostic dilemma and treatment. Catatonia is a syndrome , comprised of symptoms such as motor immobility, excessive motor activity, extreme negativism, and stereotyped movements. Neuroleptic is able to induce catatonia like symptoms, that is, the neuroleptic malignant syndrome NMS. In NMS, patients typically show symptoms such as an altered mental state, muscle rigidity, tremor, tachycardia, hyperpyrexia, leukocytosis, and elevated serum creatine phosphorous kinase.
Several researchers have reported studies on catatonia and the association between catatonia and NMS, but none were from this part of the eastern India. In our case, we observed overlapping symptoms of catatonia and NMS; we wish to present a case of this diagnostic dilemma in a patient with catatonia, where a detailed history, investigation, and symptom management added as a great contribution to the patient's rapid improvement.
Full Text Available Catatonia is a syndrome , comprised of symptoms such as motor immobility, excessive motor activity, extreme negativism, and stereotyped movements. The dilemma of diagnostic testing for Prader-Willi syndrome. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests. Here we discuss the commonly used tests currently available and suggest a cost—effective approach to diagnostic testing.
Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor. A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation. Rett syndrome diagnostic criteria: lessons from the Natural History Study. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present.
All variant RTT participants met at least 3 of 6 main criteria in the , 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria. Irritable bowel syndrome : diagnostic approaches in clinical practice. Objective: To review the diagnostic evaluation of patients with suspected IBS, strengths and weaknesses of current methodologies, and newer diagnostic tools that can augment current symptom-based criteria.
Methods: The peer-reviewed literature PubMed was searched for primary reports and reviews using the limiters of date — and English language and the search terms irritable bowel syndrome , diagnosis, gastrointestinal disease, symptom-based criteria, outcome, serology, and fecal markers. Abstracts from Digestive Disease Week — and reference lists of identified articles were reviewed. Results: A disconnect is apparent between practice guidelines and clinical practice.
The American Gastroenterological Association and American College of Gastroenterology recommend diagnosing IBS in patients without alarm features of organic disease using symptom-based criteria eg, Rome. Some aspects of molecular diagnostics in Lynch syndrome. Full Text Available Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in families.
The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations Part 1 has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed Part 2 and applied to study the types of mutations and their prevalence in Poland Part 3 and the Baltic States Part 4. A specific feature of these mutations, i. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene Part 5. Importance of nuclear medicine diagnostics in CUP syndrome.
The diagnostic work-up in patients with carcinoma of unknown primary CUP syndrome is extensive, highly time-consuming and cost-intensive and ultimately often fails to detect a primary site. Since the introduction of positron emission tomography PET evaluation of tumor vitality has become possible. Several meta-analyses have reported an additional overall detection rate between Metastatic localization cervical versus extracervical did not influence the performance. If mentioned, the results obtained by fluorodeoxyglucose FDG -PET significantly changed the clinical management in approximately one third of the patients studied.
To determine the real additional value of PET-CT in the diagnosis of CUP syndrome large prospective studies with more uniform inclusion criteria are needed. Despite the capabilities of FDG-PET-CT there is as yet no evidence that a potentially improved diagnostic algorithm is translated into a better patient outcome.
In CUP patients with cervical lymph node metastases PET-CT should be carried out prior to panendoscopy to reduce the number of false negative biopsies. Diagnostic algorithm for relapsing acquired demyelinating syndromes in children. To establish whether children with relapsing acquired demyelinating syndromes RDS and myelin oligodendrocyte glycoprotein antibodies MOG-Ab show distinctive clinical and radiologic features and to generate a diagnostic algorithm for the main RDS for clinical use.
A neuroradiologist blinded to the diagnosis scored the MRI scans. Clinical, radiologic, and serologic tests results were compared. The findings showed that Acute disseminated encephalomyelitis presentation was seen only in the non-MS group. MOG-Ab were found in Because MOG-Ab-positive children showed notable and distinctive clinical and MRI features, they were grouped into a unified phenotype MOG-Ab-associated disease , included in a new diagnostic algorithm. Problems of early clinical diagnostics of pseudoexfoliation syndrome.
Full Text Available Purpose: to study the informativeness of pseudoexfoliation syndrome PES signs for early diagnosis improvement. Methods: patients with PES were included in the study. Exclusion criteria consisted of aphakia, pseudophakia, previous eye surgery and diseases which can complicate PES diagnostics uveitis, corneal pathology, ocular injury etc..
Each patient underwent complete ophthalmic examination, including slit-lamp examination under mydriasis, gonioscopy. Confocal microscopy was used as an additional diagnostic method in several patients Confoscan-4, Nidek. Results: Pseudoexfoliation material was found at the pupillary margin in Peripheral depositions were present in almost all PES patients under mydriasis.
Clinical asymmetry of several signs pupil diameter, anterior chamber angle pigmentation, IOP level should be taken into consideration in early PES diagnostics. Conclusion: Examination under mydriasis and knowledge of PES micro-signs in some cases has been allowed to suspect PESeven at the preclinical stage. A case of pervasive refusal syndrome : a diagnostic conundrum. A case is presented of an year-old girl with pervasive refusal syndrome PRS who ultimately recovered acutely and completely after an month paediatric hospitalisation.
There was an apparent absence of previously proposed important aetiological factors in PRS, such as family pathology and markedly traumatic or abusive experiences, and her recovery was sudden and complete. The authors consider the differential diagnoses of PRS paying particular attention to the possibility of a conversion disorder or catatonia, given the absence of PRS in the North American literature. Consideration of catatonia is important as it has a diagnostic test and responds rapidly to appropriate treatment, in contrast to conventional treatment for PRS and conversion disorder.
Background: Metabolic syndrome and other cardiovascular risk factors are highly prevalent in people with schizophrenia. Metabolic syndrome can contribute to significant morbidity and premature mortality and should be accounted for in the treatment of mental disorders. Along with results of numerous investigations regarding metabolic syndrome , different issues have occurred. The aim of this article is to review literature regarding diagnostic and treatment of metabolic syndrome and po Full Text Available Fanconi anemia FA is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure.
The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal breakage test using a DNA cross-linking agent, in which cells from an FA patient typically exhibit an extraordinarily sensitive response, has been considered the gold standard for the ultimate diagnosis of FA.
In the majority of FA patients the test results are unambiguous, although in some cases the presence of hematopoietic mosaicism may complicate interpretation of the data. However, some diagnostic overlap with other syndromes has previously been noted in cases with Nijmegen breakage syndrome. Here we present results showing that misdiagnosis may also occur with patients suffering from two of the three currently known cohesinopathies, that is, Roberts syndrome RBS and Warsaw breakage syndrome WABS.
This complication may be avoided by scoring metaphase chromosomes—in addition to chromosomal breakage—for spontaneously occurring premature centromere division, which is characteristic for RBS and WABS, but not for FA. Irritable bowel syndrome --prognosis and diagnostic safety. A 5-year follow-up study. The irritable bowel syndrome is the commonest diagnosis in gastroenterological clinics, although diagnostic criteria and investigatory programs vary.
To elucidate the diagnostic safety and prognosis of the syndrome , a retrospective study was conducted. One hundred and twelve consecutive patients Seventeen patients died during the follow-up period; two of these were considered diagnostic failures chronic pancreatitis and pancreatic cancer. Of the remaining 95 patients, 93 were Diagnostic criteria for cryopyrin-associated periodic syndrome CAPS. Early diagnosis and rapid initiation of IL-1 inhibition prevent organ damage.
The aim of the study was to develop and validate diagnostic criteria for CAPS. An innovative process was followed including interdisciplinary team building, item generation: review of CAPS registries, systematic literature review, expert surveys, consensus conferences for item refinement, item reduction and weighting using Minds decision software. Diagnostic models were explored using sensitivity analyses. The international team included 16 experts. Systematic literature and registry review identified 33 CAPS-typical items; the consensus conferences reduced these to Correspondence analysis determined variables consistently associated with the diagnosis of CAPS using cases and controls.
Seven variables were significantly associated with CAPS pCAPS-typical symptoms: urticaria-like rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis and skeletal abnormalities. The novel approach integrated traditional methods of evidence synthesis with expert consensus, web-based decision tools and innovative statistical methods and may serve as model for other rare diseases.
These criteria will enable a rapid diagnosis for children and adults with CAPS. Cardinal symptoms of IBS include abdominal pain and altered bowel habits. The absence of abdominal pain makes the diagnosis of IBS untenable. The Rome criteria were developed by a panel of international experts in the field of functional gastrointestinal disorders.
Although initially developed to guide researchers, these criteria have undergone several revisions with the intent of making them clinically useful and relevant. This monograph provides a brief overview on the development of the Rome criteria, discusses the utility of the Rome IV criteria, and reviews how the criteria can be applied clinically to diagnose IBS.
In addition, a diagnostic strategy for the cost-effective diagnosis of IBS will be reviewed. Prune belly syndrome. Eagle -Barrett syndrome ; Triad syndrome The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is Nationwide survey of Arima syndrome : revised diagnostic criteria from epidemiological analysis. We have never known any epidemiological study of Arima syndrome since it was first described in To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome , we performed the first nationwide survey of Arima syndrome , and herein report its results.
Furthermore, we revised the diagnostic criteria for Arima syndrome. As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome , including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance.
Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. The response rate of the primary survey was The number of patients with 5 typical symptoms was 13 and that with symptoms was After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome.
Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome. Published by Elsevier B. All rights. Diagnostic imaging techniques in Rubinstein-Taybi syndrome. Albanese, A. Both etiology and pathogenesis of Rubinstein-Taybi syndrome RTS are still questionable, even though a genetic factor seems to be certain.
A typical face, psychomotor delay, and thumb and halluces abnormalities big, prevalently short, and often 'spoon-like' toes are the main characteristic patterns of RTS. Eight subjects 4 male and 3 female children aged 26 days-7 years, and a year old woman, mother of 1 of the affected children with different signs of RTS were studied over the last 3 years.
The results are here reported, with a special emphasis on malformations detected with conventional radiography Rx , Computerized Tomography CT , and ultrasound US. Atypical face and psycomotor delay were found in all cases, while thumb and halluces abnormalities were observed only in 6 cases. Among several clinical signs of RTS, we found: severe diagnostic imaging techniques help diagnose hidden malformations and confirm and integrate clinical signs.
Neonatal abstinence syndrome : Diagnostic dilemmas in the maternity ward. Full Text Available Introduction. NAS is difficult to diagnose due to unreliability of the data on addictive substances use during pregnancy, limited possibilities of the prenatal exposure diagnosis and postnatal substance detection, which all lead to diagnostic dilemmas.
The aim of this study was to indicate the problems in patients with early NAS diagnosis in the maternity ward and the importance of clinical presentation used as a guide toward the diagnosis. This retrospective study included five term eutrophic newborns with high Apgar score, good adaptation in the first day and with clinical presentation of NAS during the second day of life.
The clinical presentation was dominated by irritability, increased wakefulness, increased muscle tone, shrilly crying, tremors, problems with accepting food, tachypnea, subfebrility and hyperhidrosis. Finnegan scale was introduced in order to diagnose NAS and apply the therapy. Single-medication therapy of phenobarbitone was applied in four cases and a combination of phenobarbitone and morphine in one case.
Conditions such as perinatal asphyxia, infection, hunger, polycythemia, hypoglycemia or hypocalcemia were excluded. Finnegan score implied that pharmacological treatment had to be administered. The discrepancy between the NAS anamnesis and toxicological analysis existed.
Response to the treatment was positive in all cases. NAS is a multisystemic disorder and should be suspected when it is noticed that children exhibit characteristic signs. However, other pathological conditions have to be excluded. Quantification according to the adopted scales for NAS leads toward appropriate treatment and recovery of the newborns. The aim of this study was to examine the value of qEEG in the diagnostic evaluation of dementia in patients with Down syndrome DS. Full Text Available In the article modern data on prevalence, diagnostic criteria and approaches to the treatment of irritable bowel in children are presented.
The issues of the terminology and classification of recurrent abdominal pains in children are clarified, the basic pathophysiological mechanisms of the disease are indicated. Particular emphasis has been placed on the efficient therapy of the different clinical variants of irritable bowel syndrome. The role of modern spasmolytic drugs in the treatment of abdominal pain syndrome and the rational usage of laxatives in constipation in children is shown.
Key words: children, irritable bowel syndrome , diagnostics , treatment. The diagnostic value of late-night salivary cortisol for diagnosis of subclinical Cushing's syndrome. Late-night salivary cortisol is a frequently used and easily implemented diagnostically valuable test for the diagnosis of overt Cushing's syndrome. The use of late-night salivary cortisol in the diagnosis of subclinical Cushing's syndrome is somewhat controversial.
In this study, we aimed to determine the diagnostic value of late-night salivary cortisol in diagnosing subclinical Cushing's syndrome and compare it with hour urinary free cortisol levels UFC. The study consisted of 33 cases of subclinical Cushing's syndrome , 59 cases of non-functioning adrenal adenoma, and 41 control subjects. Late-night salivary cortisol and UFC were measured in all the cases. Because the sensitivity of late-night salivary cortisol for the diagnosis of subclinical Cushing's syndrome is limited, using it as the sole screening test for subclinical Cushing's syndrome may lead to false negative results.
However, using it as an adjunct test to other tests may be beneficial in the diagnosis of subclinical Cushing's syndrome. Endokrynol Pol ; 67 5 : Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children. Full Text Available Rett Syndrome is one of the most socially significant neuropsychiatric hereditary diseases in children. This syndrome is mainly found in girls: its frequency is — In , the Expert Consortium for Rett syndrome have revised the existing diagnostic criteria for the syndrome and come to a new consensus.
If there is a regression of mental development for the diagnosis of Rett syndrome exemplary embodiment only four basic criteria for the diagnosis of atypical variant — two of the four main criteria, and five of the eleven additional criteria. Primary sialoangiectasia - a diagnostic pitfall in Sjogren's syndrome - Case report. A case of primary sialoangiectasia, which in this case was initially misdiagnosed as Sjogren's syndrome , is described. Other diseases, including HIV infection, psoriatic arthritis, and acute parotitis, may cause glandular changes similar to the changes found in the syndrome.
Therefore, sialography. Diagnostics and treatment of patients with polycystic ovary syndrome. Full Text Available Background. It is a multisystem reproductive-metabolic disorder and its diagnostics and treatment remain controversial. Women with PCOS are at increased risk of developing type II diabetes, metabolic syndrome , cardiovascular disease, depression, non-alcoholic fatty liver disease, endometrial hyperplasia and cancer and few other types of carcinoma.
Due to all above, early correct diagnosis, treatment and permanent surveillance of PCOS are of great importance. The main difficulty with diagnosis of PCOS was until recently lack of clear diagnostic criteria. Exclusion of other diseases with similar clinical presentation is necessary.
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Treatment depends on the age of the patient, predominating clinical signs and aim we try to achieve. First-line treatment for all patients includes life-style changes and weight reduction in obese patients. Management of adolescent patients is aimed at abolishment of menses irregularity and endometrial protection, treatment of hyperandrogenism, obesity, and insulin resistance IR.
In the first-line treatment we also recommend oral hormonal contraceptives OHC with non-androgenic gestagens NG with or without antiandrogens AA and topical dermatological. The authors checked the references of the selected articles to identify additional eligible publications and contacted the authors, if necessary. Due to its systemic involvement, it can exhibit a wide range of clinical manifestations that contribute to confusion and delay in diagnosis. Full Text Available The problem of pain today remains one of the fundamental issues of medical care.
It is known that the pain is the leading cause of treatmentto the doctor. Among pain syndromes , a special place belongs to the complex regional pain syndromes. The article presentsmodern data on the diagnosis and treatment of the complex regional pain syndromes. A case report of burning mouth syndrome : A diagnostic dilemma. Full Text Available Oral dysaesthesia syndrome called burning mouth syndrome BMS causes chronic pain in the orofacial region without presence of any of the detectable organic causes.
Common features of BMS are burning sensation in the mouth, xerostomia, dysgeusia, etc. These symptoms ideally show a diurnal pattern, were they are less in the morning and worsen as the day progresses and classically subside at the night time. BMS have multifactorial etiology. This report describes a case of burning mouth syndrome in a 60 year old female patient. Diagnostic performance of BMI percentiles to identify adolescents with metabolic syndrome. Participants were also categorized by presence or absence of metabolic syndrome. The CDC and FGram standards were compared by prevalence of metabolic abnormalities, various diagnostic criteria, and odds of metabolic syndrome.
Receiver operating characteristic curves were also created to identify optimal BMI percentiles to detect metabolic syndrome. The receiver operating characteristic analyses identified optimal thresholds similar to the CDC standards for boys and the FGram standards for girls. Overall, BMI thresholds were more strongly associated with metabolic syndrome in boys than in girls. The diagnostic utility of the CDC thresholds outperformed the FGram values for boys, whereas FGram standards were slightly better thresholds for girls.
The use of a common set of thresholds for school and clinical applications would provide advantages for public health and clinical research and practice. Diagnostic criteria for constitutional mismatch repair deficiency syndrome. The tumour spectrum is very broad, including mainly haematological, brain They include multiple hyperpigmented and hypopigmented skin areas, brain malformations, pilomatricomas, a second childhood malignancy, a Lynch syndrome LS -associated tumour in a relative and parental consanguinity.
According to their specificity for CMMRD and their frequency in the general population, additional features are weighted with points A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation ROHHAD has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation.
This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress. Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient. In addition to these features, the patient was found to have hypergonadotropic hypogonadism and megaloblastic anemia.
Because of its high mortality and morbidity, the possibility of ROHHAD syndrome needs to be considered in all pediatric cases of early- and rapid-onset obesity associated with hypothalamic-pituitary endocrine dysfunction. We present a year-old female patient who was reported to be healthy until the age of 3 year Diagnostic value of hepatobiliary sequence scintigraphy in patients with postcholecystectomy syndrome. The autors report about the possibility of registration from functionally disturbances of gall fluid with the help of hepatobiliary sequence-scintigraphy in patients with postcholecystectomy- syndrome.
The diagnostic importance of this methode and the meaning of other usually procedures is discussed. A selection of patients succeed in objective manner with hepatobiliary sequence-scintigraphy together with clinically dates of laboratory. In patients with postcholecystectomy- syndrome the procedure can show functionally disturbances in the area of extrahepatic gall ways. The Eagle 's EGGs. Those huge pillars of gas and dust are being sculpted and illuminated by bright and powerful high-mass stars in the nearby NGC young stellar cluster.
The Hubble astronomers suggested that perhaps even younger stars were forming inside. Two of the three pillars are seen to have very young, relatively massive stars in their tips. Another dozen or so lower-mass stars seem to be associated with the small "evaporating gaseous globules EGGs " that the Hubble astronomers had discovered scattered over the surface of the pillars.
These findings bring new evidence to several key questions about how stars are born. Was the formation of these new stars triggered as the intense ultraviolet radiation from the NGC stars swept over the pillars, or were they already there?
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Will the new stars be prematurely cut off from surrounding gas cloud, thus stunting their growth? If the new stars have disks of gas and dust around them, will they be destroyed before they have time to form planetary systems? Clinical radiation diagnostics of shoulder joint impingement syndrome. Direct radial symptoms are what specify an impingement of a syndrome of a humeral joint in the reasons, indirect - symptoms of an inflammation both degenerate and dystrophic changes of structures of area of a humeral joint which are involved in pathological process.
The best results are given by complex radial research at which it is possible to find out direct and indirect symptoms a syndrome impingement.
eagle syndrome diagnostic: Topics by cosenefuno.tk
It is an important cause of hospitalization which affects the diagnosis as well as the prognosis and treatment of patients. Her daughter, Gina, reconstructs their powerful love story from documents, memories and the recollections of people who knew them. Even though it's just two cryptic references, her instinct assures her that her friend is in danger, and needs her help. After suffering a terrible car accident, Malena finds herself walking the thin line that separates life from death, thinking about all the words that remained unsaid: words of love, friendship and forgiveness.
A collection of fables by the renounced author of "La Colmena". A collection of short novels by the renounced author of "La Colmena". A family intrigue set in Galicia in the late 19th and early 20th centuries, a land of living widows. Women watch the men in their lives emigrate in search of a better life, a dream that is sometimes fulfilled, and sometimes turned against all. Winner of the Premio Primavera award Debut novel. A boy disappears in a shopping centre; from that moment, a neverending chase will keep you on edge until the end. A novel about the power of friendship, as well as the human passions and their mysteries.
In , Cuba gives asylum to a few Jews fleeing the Nazis, and turns away the rest. Seven decades later, a young girl from New York travels to La Habana, to visit the grandmother she never met, and discover her secrets. Dedicated to transgressing the laws of conventional narrative, Cortazar combines intertextuality, an unprecedented use of the colloquial and interminable game to bring the reader into a particular universe where nothing is what it seems. De la Rosa, Julio Manuel. About to write a will, Benito Arias Montano finds a forgotten paper with the name Desiderii written on it.
The former chaplain of Philip II begins a journey during some crucial years in the history of sixteenth-century Europe. Miguel and Helena live in a care home in Tarifa and feel that they have been relegated to an almost ornamental plane. The dramatic suicide of a resident opens their eyes and they decide they do not want to spend their last days remembering times gone by.
Celama is a territory of myth, imagination and memory containing, as a literary invention, a great metaphor about the disappearance of peasant cultures, which leads us to the deepest and most mysterious side of the the human heart. A king obsessed with time and death. A queen ready to do anything for the future of her children.
Quatre dies de gener
A relationship marked by lust, fear and intrigue. A story of Philip V, the first Borbon who reigned in Spain. A novel about glories and defeats, family intrigue and vineyards. A story of courage in adversity and a destiny forever altered by the force of passion. Before the Civil War, young dressmaker Sira Quiroga leaves Madrid dragged by love towards a man she hardly knows. Together they settle in Tangier, a mundane, exotic and vibrant city where everything unthinkable can come true. This brief history of culture fully participates in the rare virtue treasured by the wise books of truth: it conveys, intelligibly, love and interest in the history that its title promises us.
An informal brotherhood gathers men to tell, in few words or in many hours, their stories of love, sentimental or sexual. The story of five adolescents struggling with the problems and chaos of youth. Ten years ago, millions of readers surrendered to "La catedral del mar". Now, the story continues with this impressive recreation of medieval Barcelona, a splendid and exciting novel of loyalty, revenge, love and dreams to fulfil.
A nun disappears leaving an enigmatic message, and a collaborator of Pope Francis instructs two intelligence agents to find her. Nine stories that deliver a stripped-down vision, with an overwhelming sincerity, of contemporary life in Chilean society. Extended edition of the great editorial success "Trece rosas rojas", which completes the most poignant story of the Spanish civil war. Azorin Novel Prize As if they were chess figures, the Romanov family prepares in silence for a new transfer, after the abdication of the Tsar.
Alejandra, the Tsarina, dreams of seeing her four daughters married. How does a writer dream? A story of intrigue and crime and also a portrait of Spain in the dull, grey fifties, a country where, according to the propaganda, nothing ever happened. Set against the backdrop of the Spanish economic crisis, this dark novel revolves around the relationship between Javier, an unemployed lecturer, and Irene, a businesswoman whose husband has left her. A crime novel full of action that portrays a dark Barcelona in times of crisis.
You ought to be very brave to ask for help, but you have to be braver to accept it. The characters in this novel will live bittersweet moments of unexpected solidarity, indignation and rage, but also of tenderness and tenacity. The story of Nino, nine-year old son of a civil guard, as he grows up in rural post-war Spain. The arrival of a mysterious Portuguese stranger means that the summer of is one he will never forget.
Julia has just moved into a new apartment. To celebrate, her friend Mariana makes a unexpected visit but, shortly after arriving, a ring on the doorbell interrupts the evening. Behind the door they find the corpse of a man stabbed in the back. A year after the renowned culinary critic Ferdinand Cubillo was shot dead, the motive for the murder remains a mystery. Detective Parra decides to take up the case, just at the moment when new deaths seem related to Cubillo's. A novel about the past, about secrets and about lives that share the same destiny despite the time that separates them.
Andrea moves to Barcelona after the Civil War to start a new life. She will be soon immersed into the mad, decadent atmosphere or her grandmother's house, that will leave her with a bitter taste of nothingness. The women of the Laguna family have been cursed from the beginning of their lineage: one after the other they suffer lovesickness and only give birth to unlucky girls.
But after decades, the first boy is born. Will the curse be finally lifted? Planeta Award Finalist Juan Delforo turns to Toni Romanoa after being accused of the murder of a news anchor and is later imprisoned. A murder mystery set in Madrid, by an award-winning and internationally acclaimed author. In a local cinema a prostitute is murdered in cold blood. But the mystery is not the who or the how but the why. Juan is a teenage private detective who goes by the name of Flanagan. He usually deals with small cases until Carmen asks him to find her missing newborn nephew.
The story will turn out to be more dangerous than he ever anticipated. Set during the early days of the Spanish Transition, "Derecho natural" shows the legislative development of an era in conflict with a past, in which there was no relation between law and justice.
The epic story of a survivor from the Invincible Armada defeat at the end of the 16th century. Two 11 year old girls go missing in the village of Monteperdido. When one of them reappears five years later, the case is re-opened and many of the villagers are anxious to avoid the truth coming out. A novel based on the unprecedented real story of Dr. Escudero,who suffered from the very same disease he was reasearching and was always convinced of having received a wrong diagnosis.
A romantic comedy about a woman who has been heartbroken many times in her life. Her story will remind us that, even if love has an expiry date, sometimes one can keep it forever. Montse and her friends Julia and Juana are three Spanish girls living in London, who in order to escape from their stressful routine and help Montse move on after a bad break-up , embark on a girls-only trip to Edinburgh.
A forgotten mystery from 20 years ago comes back to haunt Mendoza's idiosyncratic detective. The novel also examines the huge changes in Barcelona in recent years. A thrilling novel that will hold your breath and give you a glimpse of the hidden territories of existence. Cleopatra mourns the end of her love affair with Marco Antonio on a boat that sails along the Nile. This conflict of love and passion will lead to new encounters that will inevitably have a fatal destiny. Winner of the Planeta Award Historical novel set in 15th-century Catalonia.
His attempts to free his family take him to Sicily, Naples and Rome. In the late 15th century a library becomes the centre of intrigue in a Rome dominated by the Borgias. An exciting historical novel set in the world of books. Teacher Raquel takes up a new job in a remote Galician village and is shocked to find out that her predecessor Elvira committed suicide. An absorbing thriller in which nearly all of the characters have something to hide.
Premio Primavera de Novela During the Crusades, a young peasant girl is forced to don a dead soldier's armor in order to survive on her own. Her adventures as a wandering knight will give her freedom, knowledge and power. The brutal murder of a year old girl in a remote coastal village leads to a campaign of violence against the man believed by the locals to be her killer. A journalist investigates the exciting life of an ancestor - a woman who lived through the twentieth century, from the turbulent years of the Republic until the fall of the Berlin Wall.
Father and son go travelling together whilst the mother takes her own route. Alternating between tenderness and cruelty, this is a disturbing novel about family ties. One day, the narrator receives an unexpected letter from his grandmother, initiating a literary adventure that will make him a witness to things he has never seen before.
An enigmatic traveller and a city in the form of a labyrinth from which it seems impossible to escape.