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Sample records for radiation syndrome diagnosis

  1. Radiation nephritis causing nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  2. Acute Radiation Syndrome

    Science.gov (United States)

    ... Matters Information on Specific Types of Emergencies Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

  3. Chronic radiation syndrome

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    Akleyev, Alexander V. [Urals Research Centre for Radiation Medicine, Chelyabinsk (Russian Federation). Clinical Dept.

    2014-04-01

    Comprehensive analysis of chronic radiation syndrome, covering epidemiology, pathogenesis, pathoanatomy, diagnosis and treatment. Based on observations in a unique sample of exposed residents of the Techa riverside villages in the Urals. Casts new light on the condition. Of value for all practitioners and researchers with an interest in chronic radiation syndrome. This book covers all aspects of chronic radiation syndrome (CRS) based on observations in a unique sample of residents of the Techa riverside villages in the southern Urals who were exposed to radioactive contamination in the 1950s owing to releases of liquid radioactive wastes from Mayak Production Association, which produced plutonium for weapons. In total, 940 cases of CRS were diagnosed in this population and these patients were subjected to detailed analysis. The opening chapters address the definition and classification of CRS, epidemiology and pathogenesis, covering molecular and cellular mechanisms, radioadaptation, and the role of tissue reactions. The pathoanatomy of CRS during the development and recovery stages is discussed for all organ systems. Clinical manifestations of CRS at the different stages are then described in detail and the dynamics of hematopoietic changes are thoroughly examined. In the following chapters, principles of diagnosis (including assessment of the exposure doses to critical organs) and differential diagnosis from a wide range of other conditions are discussed and current and potential treatment options, described. The medical and social rehabilitation of persons with CRS is also covered. This book, which casts new light on the condition, will be of value for all practitioners and researchers with an interest in CRS.

  4. Acute radiation syndrome and chronic radiation syndrome.

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    Grammaticos, Philip; Giannoula, Evanthia; Fountos, George P

    2013-01-01

    Acute radiation syndrome (ARS) or sickness or poisoning or toxicity is induced after a whole body exposure of men to high doses of radiation between 1-12Gy. First symptoms are from the gastrointestinal system, which together with bone marrow are the most sensitive parts of our body. Chronic radiation syndrome (CRS) may be induced by smaller than 1Gy radiation doses or after a mild form of ARS. Prophylaxis and treatment suggestions are described. In cases of ARS, a large part of the exposed population after proper medical care may survive, while without medical care this part of the population will be lost. Prophylaxis may also save another part of the population.

  5. Prenatal Diagnosis of WAGR Syndrome

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    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  6. [Antiphospholipid syndrome diagnosis: an update].

    Science.gov (United States)

    Visseaux, Benoit; Masliah-Planchon, Julien; Fischer, Anne-Marie; Darnige, Luc

    2011-01-01

    The antiphospholipid syndrome (APS) is characterized by arterial and/or venous thrombosis and pregnancy morbidity in association with the persistent presence of autoantibodies called antiphospholipid antibodies (APAs). APAs are a heterogeneous group of circulating autoantibodies that can be detected either by phospholipid-dependent coagulation test for lupus anticoagulant (LA) or ELISA test for anticardiolipin and anti-β2GPI antibodies. In 2006, the revised criteria for the diagnosis of APS introduce the anti-β2GPI antibodies as a new biological criterion and highlight the necessity to increase the interval between two positive APA test from 6 to 12 weeks. However, despite these updated criteria, the diagnosis of APS remains challenging and we proposed here to make an overview of the latest evolution in the diagnosis of this syndrome.

  7. Diagnosis of Sacroiliac Joint Syndrome

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    Ya.V. Fishchenko

    2017-03-01

    Full Text Available Background. Sacroiliac joints are the cause of pain syndromes in 15–30 % of patients, who complained of pain in lumbosacral spine. In this connection, the relevant issue is the differential diagnosis of pain syndromes in the sacroiliac joint with discogenic, arthrogenic and myofascial pain syndromes. The aim of the study was to assess the informativeness of different diagnostic tests during the diagnosis of sacroiliac pain syndromes, either alone or in combination, using as a verifying procedure the diagnostic block with local anesthetic performed under X-ray control. Materials and methods. We have observed 90 patients aged from 30 to 78 years with one- or two-sided pain syndrome in the lumbosacral spine, with or without irradiation in the lower limb, its duration was more than 2 months. Results. The highest sensitivity was observed in Gaenslen’s test (83 % as compared to other tests with lower overdiagnosis (73 %. The positive predictive value of this test was equal to 79 %. Conclusions. Tests in combination with diagnostic block can effectively diagnose the pathology of sacroiliac joint and differentiate it from discogenic or arthrogenic pathology of the lumbar spine and degenerative diseases of the hip joints.

  8. Disease, diagnosis or syndrome?

    Science.gov (United States)

    Pearce, J M S

    2011-04-01

    The advance of medical semantics is, in general, towards causation. As knowledge increases, the common consequence is the re-definition of disease. This starts with symptoms then a disorder of structure or function, abnormalities of images, genetics or biochemistry, the ultimate aim being a specific aetiological mechanism which replaces broader descriptions. But medical terminology of diseases, diagnoses and syndromes is inherently imprecise. Careless nomenclature causes confused dialogue and communication. Symptoms of uncertain cause are commonly lumped together and given a new 'diagnostic' label which also may confuse and produce false concepts that stultify further thought and research. Such medicalisation of non-specific aggregations of symptoms should be avoided. The defining characteristics of diseases and diagnoses should be validated and agreed. The pragmatic diagnoses of 'symptom of unknown cause' or 'non-disease' are preferable to falsely labelling patients with obscure or non-existent diseases. "I tried to unveil the stillness of existence through a counteracting murmur of words, and, above all, I confused things with their names: that is belief." Jean-Paul Sartre (The Words, 1964).

  9. Diagnosis of myofascial pain syndrome.

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    Gerwin, Robert D

    2014-05-01

    Myofascial pain is one of the most common causes of pain. The diagnosis of myofascial pain syndrome (MPS) is made by muscle palpation. The source of the pain in MPS is the myofascial trigger point, a very localized region of tender, contracted muscle that is readily identified by palpation. The trigger point has well-described electrophysiologic properties and is associated with a derangement of the local biochemical milieu of the muscle. A proper diagnosis of MPS includes evaluation of muscle as a cause of pain, and assessment of associated conditions that have an impact on MPS. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Piriformis syndrome, diagnosis and treatment.

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    Kirschner, Jonathan S; Foye, Patrick M; Cole, Jeffrey L

    2009-07-01

    Piriformis syndrome (PS) is an uncommon cause of sciatica that involves buttock pain referred to the leg. Diagnosis is often difficult, and it is one of exclusion due to few validated and standardized diagnostic tests. Treatment for PS has historically focused on stretching and physical therapy modalities, with refractory patients also receiving anesthetic and corticosteroid injections into the piriformis muscle origin, belly, muscle sheath, or sciatic nerve sheath. Recently, the use of botulinum toxin (BTX) to treat PS has gained popularity. Its use is aimed at relieving sciatic nerve compression and inherent muscle pain from a tight piriformis. BTX is being used increasingly for myofascial pain syndromes, and some studies have demonstrated superior efficacy to corticosteroid injection. The success of BTX in treating PS supports the prevailing pathoanatomic etiology of the condition and suggests a promising future for BTX in the treatment of other myofascial pain syndromes.

  11. [Asperger syndrome - a fashionable diagnosis?].

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    Haker, Helene

    2014-10-01

    The Asperger Syndrome is - in contrast to early childhood autism - a disorder at the lighter end of the autism spectrum. Although first described in 1943, it was included in the ICD-10 not before 1992. The knowledge about this lighter autistic disorder spread only slowly. The increasing prevalence rates can be explained by the increased knowledge about this disorder and the growing clinical experience. In contrast to the public that gives repeated medial attention to it, and to would-be affected who seem to see an attractive excuse for social problems in an Asperger diagnosis, many psychiatrists appear cautious to state a diagnosis with which they are not familiar and which is discredited as a fashionable diagnosis.

  12. Laboratory diagnosis of antiphospholipid syndrome

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    A. Ruffatti

    2011-09-01

    Full Text Available Diagnosis of antiphosholipid syndrome (APS is based on laboratory detection of antiphospholipid (aPL antibodies in patients with documented thrombosis or in women with pregnancy morbidity. Recently, both clinical and laboratory criteria were revised on the basis of an international consensus conference held in Sydney (1. The previous international consensus statement of one clinical and one laboratory criterion to diagnose APS was maintained (2 but time-lapse between the previous thromboembolism and laboratory diagnosis should not exceed 5 years. Moreover, laboratory tests should not be performed in the 12 weeks following the event to avoid any interference of the acute phase of the disease. Thus, laboratory evaluation of venous thromboembolism (VTE should not be requested during the hospital stay as tests may be false-positive with no influence on the treatment regimen...

  13. Ethiologic diagnosis of dementia syndrome.

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    Erélido Hernández Valero

    2006-04-01

    Full Text Available Dementia prevalence is between 4,5 and 18,5%, the inferior numbers are in the underdeveloped countries. Studies carried out in Cuba, shows approximately a 10% for more than 60 year old persons, what makes consider dementia as a health problem of huge importance. That is why the existence of a practical guide for its etiological diagnosis is of supreme necessity. This study engulfs diverse criteria to reach the diagnosis of dementia syndrome, as well as the diseases that may cause it, foretell it or accelerate it. Numbers are presented, and a series of valuations about dementia, the slight cognitive aggravation, Alzheimer disease, vascular dementia, dementia by Lewy bodies, and front temporal dementia, as well as other kinds of dementia.

  14. Pai syndrome: challenging prenatal diagnosis and management

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    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  15. Diagnosis Delayed but not Denied - Sheehan's syndrome.

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    Thyagaraj, V; Kumar, M J V

    2015-01-01

    Sheehan's syndrome is a rare complication of postpartum hemorrhage. With advancement in obstetric care, Sheehan's syndrome has become uncommon except in developing countries. Here, we report a patient with Sheehan's syndrome who escaped diagnosis for 22 years and presented with life threatening complications. This patient also had certain unusual features of Sheehan's syndrome like pancytopenia and renal failure. A high index of suspicion is necessary in diagnosing such patients.

  16. Acute radiation syndrome caused by accidental radiation exposure - therapeutic principles

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    Dörr Harald

    2011-11-01

    Full Text Available Abstract Fortunately radiation accidents are infrequent occurrences, but since they have the potential of large scale events like the nuclear accidents of Chernobyl and Fukushima, preparatory planning of the medical management of radiation accident victims is very important. Radiation accidents can result in different types of radiation exposure for which the diagnostic and therapeutic measures, as well as the outcomes, differ. The clinical course of acute radiation syndrome depends on the absorbed radiation dose and its distribution. Multi-organ-involvement and multi-organ-failure need be taken into account. The most vulnerable organ system to radiation exposure is the hematopoietic system. In addition to hematopoietic syndrome, radiation induced damage to the skin plays an important role in diagnostics and the treatment of radiation accident victims. The most important therapeutic principles with special reference to hematopoietic syndrome and cutaneous radiation syndrome are reviewed.

  17. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome].

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    Ida, Hiroaki

    2015-05-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  18. Goodpasture syndrome: pathophysiology, diagnosis, and management.

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    Fox, H L; Swann, D

    2001-06-01

    Goodpasture syndrome is an autoimmune disease characterized by glomerulonephritis, pulmonary hemorrhage, and autoantibodies to the glomerular and alveolar basement membranes. The cause is unknown, and if untreated, Goodpasture syndrome usually is fatal. Early diagnosis and prompt initiation of therapy can decrease disease progression and increase chances of survival. Treatment modalities remain controversial and vary among practitioners.

  19. Haglund's Syndrome: Diagnosis and Treatment Using Sonography

    OpenAIRE

    Sofka, Carolyn M.; Adler, Ronald S.; Positano, Rock; Pavlov, Helene; Luchs, Jonathan S.

    2006-01-01

    Haglund's syndrome is a cause of retrocalcaneal pain. The clinical diagnosis of Haglund's syndrome is often confusing as the clinical picture may mimic other causes of hindfoot pain such as isolated retrocalcaneal bursitis or hindfoot involvement from more systemic arthropathies such as Reiter's syndrome or rheumatoid arthritis. With the increasing frequency of employing sonography as a diagnostic tool in the evaluation of foot and ankle pathology, recognition of the sonographic appearance of...

  20. Diagnosis of adolescent polycystic ovary syndrome.

    Science.gov (United States)

    Hardy, Tristan S E; Norman, Robert J

    2013-08-01

    Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age and is increasingly recognized as a disorder manifesting in the peripubertal and adolescent period. Diagnosis in the adolescent is difficult due to the high background rate of menstrual irregularity, the high prevalence of polycystic ovarian morphology and hyperandrogenic features in this population. Recent guidelines suggest that menstrual irregularity for over two years, reduced reliance on ultrasound diagnosis of polycystic ovarian morphology, and accurate assessment of hyperandrogenic and metabolic features are suitable strategies for the diagnosis of PCOS in the adolescent. Accurate diagnosis is important given the long-term implications of the disorder, with increasing emphasis on metabolic sequelae.

  1. Molecular diagnosis of Down ' s syndrome

    Institute of Scientific and Technical Information of China (English)

    王树玉; 贾婵维; 任国庆; 马延敏; 吕巍; 丁锋; 韩健

    2003-01-01

    Objective To establish a new diagnostic method for Down ' s syndrome using polymerase chain reaction (PCR).Methods DNA extracted from five healthy individuals and five Down ' s syndrome patients was amplified in six specific tetranucleotide repeat loci on chromosome 21 using PCR. An accurate diagnosis was made by analyzing allelic distribution at each locus. Results All Down ' s syndrome patients were identified as having at least two loci with three alleles, while none of the healthy individuals had three alleles. In addition, when two alleles were identified for a particular locus in the Down ' s syndrome samples, it was more likely that the intensity ratio between the two alleles was close to 2∶ 1.Conclusion The molecular method can provide a fast, accurate, and economical alternation for the traditional cytogenetic diagnostic method for Down ' s syndrome.

  2. Diagnosis and Management of Iridocorneal Endothelial Syndrome

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    Marta Sacchetti

    2015-01-01

    Full Text Available The iridocorneal endothelial (ICE syndrome is a rare ocular disorder that includes a group of conditions characterized by structural and proliferative abnormalities of the corneal endothelium, the anterior chamber angle, and the iris. Common clinical features include corneal edema, secondary glaucoma, iris atrophy, and pupillary anomalies, ranging from distortion to polycoria. The main subtypes of this syndrome are the progressive iris atrophy, the Cogan-Reese syndrome, and the Chandler syndrome. ICE syndrome is usually diagnosed in women in the adult age. Clinical history and complete eye examination including tonometry and gonioscopy are necessary to reach a diagnosis. Imaging techniques, such as in vivo confocal microscopy and ultrasound biomicroscopy, are used to confirm the diagnosis by revealing the presence of “ICE-cells” on the corneal endothelium and the structural changes of the anterior chamber angle. An early diagnosis is helpful to better manage the most challenging complications such as secondary glaucoma and corneal edema. Treatment of ICE-related glaucoma often requires glaucoma filtering surgery with antifibrotic agents and the use of glaucoma drainage implants should be considered early in the management of these patients. Visual impairment and pain associated with corneal edema can be successfully managed with endothelial keratoplasty.

  3. Diagnosis and Treatment of Hypophyseal Cushing’s Syndrome

    OpenAIRE

    Kirilyuk, M.L.

    2014-01-01

    The paper deals with the questions on etiology, pathogenesis and diagnosis of hypophyseal Cushing’s syndrome. There are described the clinical picture of Cushing’s syndrome as well as the conditions associated with hypercorticoidism in the absence of Cushing’s syndrome. There are dwelt the principles of laboratory and instrumental diagnosis and treatment of this syndrome.

  4. Cugini's syndrome: its clinical history and diagnosis

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    Laura Gasbarrone

    2013-09-01

    Full Text Available INTRODUCTION: This article deals with the description and diagnosis of a new nosographic syndrome, which received the eponym of "Cugini's syndrome" by the name of the Author who discovered its clinical picture. This syndrome is characterized by the binomial: "minimal target organ damage associated to monitoring prehypertension". CLINICAL HISTORY AND DIAGNOSIS: Between the years 1997 and 2002, the Author published a series of investigations regarding some office normotensives who inexplicably showed incipient signs of target organ damage (TOD. Investigated via ambulatory (A blood (B pressure (P monitoring (M, these subjects were surprisingly found not to be hypertensive. Neverthless, the office normotensives with TOD exibited the daily mean level of their systolic (S and diastolic (D BP (DML SBP/DBP significantly more elevated as compared to true normotensives. Because of these ABPM findings, the Author realized that the investigated subjects were false normotensives whose TOD was associated with a monitoring prehypertension (ABPM-diagnosable prehypertension alias monitoring prehypertension alias masked prehypertension. The year after the last Cugini's investigation, the INC-7 Reports introduced the term: "prehypertension" in its classification of arterial hypertension, as an office sphygmomanometric condition in between office normotension and office hypertension. The ABPM cut-off upper limits for a differential diagnosis between monitoring normotension, prehypertension and hypertension are reported, as calculated by the Author in its collection of ABPMs. The eponym of "Cugini's syndrome" was assigned in 2007 and confirmed in 2009. CONCLUSIVE REMARKS: The monitoring prehypertension is a further condition of discrepancy between office sphygmomanometry and ABPM, as per a masked prehypertension, whose diagnosis has to be immediately diagnosed, for preventing the onset of a TOD. There are reported the present investigations dealing with the possible

  5. The Diagnosis and Treatment of Antisynthetase Syndrome.

    Science.gov (United States)

    Witt, Leah J; Curran, James J; Strek, Mary E

    2016-09-01

    Anti-synthetase syndrome is an autoimmune condition, characterized by antibodies directed against an aminoacycl transfer RNA synthetase along with clinical features that can include interstitial lung disease, myositis, Raynaud's phenomenon, and arthritis. There is a higher prevalence and increased severity of interstitial lung disease in patients with anti-synthetase syndrome, as compared to dermatomyositis and polymyositis, inflammatory myopathies with which it may overlap phenotypically. Diagnosis is made by a multidisciplinary approach, synthesizing rheumatology and pulmonary evaluations, along with serologic, radiographic, and occasionally muscle and/or lung biopsy results. Patients with anti-synthetase syndrome often require multi-modality immunosuppressive therapy in order to control the muscle and/or pulmonary manifestations of their disease. The long-term care of these patients mandates careful attention to the adverse effects and complications of chronic immunosuppressive therapy, as well as disease-related sequelae that can include progressive interstitial lung disease necessitating lung transplantation, pulmonary hypertension, malignancy and decreased survival. It is hoped that greater awareness of the clinical features of this syndrome will allow for earlier diagnosis and appropriate treatment to improve outcomes in patients with anti-synthetase syndrome.

  6. Syndrome Diagnosis: Human Intuition or Machine Intelligence?

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    Braaten, Øivind; Friestad, Johannes

    2008-01-01

    The aim of this study was to investigate whether artificial intelligence methods can represent objective methods that are essential in syndrome diagnosis. Most syndromes have no external criterion standard of diagnosis. The predictive value of a clinical sign used in diagnosis is dependent on the prior probability of the syndrome diagnosis. Clinicians often misjudge the probabilities involved. Syndromology needs objective methods to ensure diagnostic consistency, and take prior probabilities into account. We applied two basic artificial intelligence methods to a database of machine-generated patients - a ‘vector method’ and a set method. As reference methods we ran an ID3 algorithm, a cluster analysis and a naive Bayes’ calculation on the same patient series. The overall diagnostic error rate for the the vector algorithm was 0.93%, and for the ID3 0.97%. For the clinical signs found by the set method, the predictive values varied between 0.71 and 1.0. The artificial intelligence methods that we used, proved simple, robust and powerful, and represent objective diagnostic methods. PMID:19415142

  7. Syndrome diagnosis: human intuition or machine intelligence?

    Science.gov (United States)

    Braaten, Oivind; Friestad, Johannes

    2008-01-01

    The aim of this study was to investigate whether artificial intelligence methods can represent objective methods that are essential in syndrome diagnosis. Most syndromes have no external criterion standard of diagnosis. The predictive value of a clinical sign used in diagnosis is dependent on the prior probability of the syndrome diagnosis. Clinicians often misjudge the probabilities involved. Syndromology needs objective methods to ensure diagnostic consistency, and take prior probabilities into account. We applied two basic artificial intelligence methods to a database of machine-generated patients - a 'vector method' and a set method. As reference methods we ran an ID3 algorithm, a cluster analysis and a naive Bayes' calculation on the same patient series. The overall diagnostic error rate for the the vector algorithm was 0.93%, and for the ID3 0.97%. For the clinical signs found by the set method, the predictive values varied between 0.71 and 1.0. The artificial intelligence methods that we used, proved simple, robust and powerful, and represent objective diagnostic methods.

  8. Diagnosis and Treatment of Polycystic Ovary Syndrome.

    Science.gov (United States)

    Williams, Tracy; Mortada, Rami; Porter, Samuel

    2016-07-15

    Polycystic ovary syndrome is the most common endocrinopathy among reproductive-aged women in the United States, affecting approximately 7% of female patients. Although the pathophysiology of the syndrome is complex and there is no single defect from which it is known to result, it is hypothesized that insulin resistance is a key factor. Metabolic syndrome is twice as common in patients with polycystic ovary syndrome compared with the general population, and patients with polycystic ovary syndrome are four times more likely than the general population to develop type 2 diabetes mellitus. Patient presentation is variable, ranging from asymptomatic to having multiple gynecologic, dermatologic, or metabolic manifestations. Guidelines from the Endocrine Society recommend using the Rotterdam criteria for diagnosis, which mandate the presence of two of the following three findings- hyperandrogenism, ovulatory dysfunction, and polycystic ovaries-plus the exclusion of other diagnoses that could result in hyperandrogenism or ovulatory dysfunction. It is reasonable to delay evaluation for polycystic ovary syndrome in adolescent patients until two years after menarche. For this age group, it is also recommended that all three Rotterdam criteria be met before the diagnosis is made. Patients who have marked virilization or rapid onset of symptoms require immediate evaluation for a potential androgen-secreting tumor. Treatment of polycystic ovary syndrome is individualized based on the patient's presentation and desire for pregnancy. For patients who are overweight, weight loss is recommended. Clomiphene and letrozole are first-line medications for infertility. Metformin is the first-line medication for metabolic manifestations, such as hyperglycemia. Hormonal contraceptives are first-line therapy for irregular menses and dermatologic manifestations.

  9. Current differential diagnosis of hypereosinophilic syndrome

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    Dinić-Uzurov Vera

    2007-01-01

    Full Text Available Introduction. Hypereosinophilic syndrome (HES is a group of idiopathic disorders associated with single or multiple organ system dysfunction. HES must be distinguished from reactive eosinophilia in parasitic infections, allergic diseases, and especially from hematological diseases of clonal origin. Reactive eosinophilia due to infectious and parasitic diseases. Tissue helminth infections, especially toxocariasis, cause severe and long-standing hypereosinophilia. Despite specific therapy, eosinophilia may persist for over a year after diagnosis, and decreases slowly. Other helminth infections, such as trichinellosis, strongyloidosis, and rarely taeniasis and cysticercosis may also be diagnosed in patients with eosinophilia. Hematologic and other neoplastic diseases. Numerous neoplastic diseases, like Hodgkin's and other malignant lymphomas, myeloproliferative diseases, systemic mastocytosis etc., may be associated with marked eosinophilia. We had two patients with clinical and histological features resembling chronic eosinophilic leukemia, and many others with T-cell lymphoma, planocellular or adenocarcinoma etc. where eosinophilia persisted. Drug-induced eosinophilia. Drugs associated with eosinophilia include penicillins, tetracyclines, especially minocycline, clarithromycin, tetrazepam, mefloquine, and many others. Toxins associated with L-tryptophan cause eosinophilia-myalgia syndrome and toxic oil syndrome, also belonging in this group. Treatment includes drug discontinuation and administration of corticosteroids. Hypereosinophilia with organ dysfunction. Many severe diseases, such as sarcoidosis, Churg-Strauss syndrome, pemphigus vulgaris, eosinophilic gastrointestinal diseases, inflammatory bowel disease and many others are associated with hypereosinophilia and target organ damage, e.g. involvement of the heart, lungs, skin, or nervous tissue. Conclusion. Eosinophilia can be classified as either familial or acquired. Hypereosinophilic

  10. [Gestational malaria: HELLP syndrome mistaken diagnosis].

    Science.gov (United States)

    Castillo Medina, Nayra Marizol; Velázquez Fonseca, Julián; Hernández Pacheco, José Antonio; Acevedo Tacuba, José Luis

    2008-05-01

    Malaria is one of the most important parasitic infections in Mexico and Latin America. Here we report a case of a 21 year-old female with 38.4 weeks of pregnancy and previous hospitalization due to malaria. Showing a thick drop negative test she was referred to Mexico City Hospital de la Mujer with presumptive diagnosis of preeclampsia and HELLP syndrome. During her stay in ICU she developed malarial paroxysm and Plasmodium vivax was identified, conducting to specific therapy.

  11. Fibromyalgia Syndrome: Etiology, Pathogenesis, Diagnosis, and Treatment

    OpenAIRE

    Enrico Bellato; Eleonora Marini; Filippo Castoldi; Nicola Barbasetti; Lorenzo Mattei; Davide Edoardo Bonasia; Davide Blonna

    2012-01-01

    Fibromyalgia syndrome is mainly characterized by pain, fatigue, and sleep disruption. The etiology of fibromyalgia is still unclear: if central sensitization is considered to be the main mechanism involved, then many other factors, genetic, immunological, and hormonal, may play an important role. The diagnosis is typically clinical (there are no laboratory abnormalities) and the physician must concentrate on pain and on its features. Additional symptoms (e.g., Raynaud’s phenomenon, irritable ...

  12. Early diagnosis of severe combined immunodeficiency syndrome.

    OpenAIRE

    Hague, R A; Rassam, S; Morgan, G; Cant, A. J.

    1994-01-01

    Infants with severe combined immunodeficiency syndrome (SCIDS) have a greatly improved prognosis if diagnosed and treated before they develop overwhelming infection. Clinical and laboratory data on 45 patients with SCIDS were retrospectively reviewed to assess the value of absolute lymphocyte counts in making an early diagnosis. Ninety infants matched for age, sex, and presenting symptoms were used as controls. Thirteen (29%) infants with SCIDS were diagnosed at birth as previous siblings had...

  13. [Burnout syndrome: diagnosis, principles of treatment, prophylaxis].

    Science.gov (United States)

    Ovchinnikov, Yu V; Palchenkova, M V; Kalachev, O V

    2015-07-01

    Burnout syndrome is a socio-psychological phenomenon of emotional, motivational, and physical exhaustion as a result of chronic occupational stress. It is manifested as long-term emotional exhaustion, depersonalization and diminished personal and professional achievements. Burnout syndrome is common among health care workers, 'due to their high dedication, empathy for suffering patients, and decision-making related to life and health of patients. Personal, role and organizational factors influence on development of burnout. The clinical picture of burnout is multifactorial and can be described as a set of psychosomatic and somatic disorders, symptoms of social dysfunction. Diversity and non-specific symptoms of burnout syndrome determine the need for an interdisciplinary approach to its diagnosis. The leading role in solving problems related to stress and emotional burnout plays psychotherapy. The paper presents diagnostic criteria, risk factors, and methods of prevention and treatment of emotional burnout.

  14. Preimplantation genetic diagnosis for Down syndrome pregnancy

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yu; XU Chen-ming; ZHU Yi-min; DONG Min-yue; QIAN Yu-li; JIN Fan; HUANG He-feng

    2007-01-01

    Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results:Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome previously, PGD can be considered, and has been shown to be an effective strategy.

  15. Restless Legs Syndrome -- Self-Tests and Diagnosis

    Science.gov (United States)

    ... Overview & Facts Causes & Symptoms Self-Tests & Diagnosis Treatment Restless Legs Syndrome - Self-Tests & Diagnosis Self-Tests Do you have ... to any of these questions you may have restless legs syndrome Diagnosis Talk to a board certified sleep medicine ...

  16. Asperger's syndrome: diagnosis, comorbidity and therapy.

    Science.gov (United States)

    Tarazi, F I; Sahli, Z T; Pleskow, J; Mousa, S A

    2015-03-01

    Asperger's syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality. This article reviews the clinical diagnosis of AS and discusses the comorbid disorders that may be present with AS, as well as the efficacy, safety, and tolerability of pharmacotherapies given to AS patients, as reported in preclinical and clinical studies. AS may be present with several comorbid disorders including: attention deficit hyperactivity disorder, anxiety, schizophrenia, bipolar disorder, depression, and Tourette's syndrome. The difficulty in distinguishing AS from autism results in treating the comorbid disorder symptoms, rather than treating the symptoms of AS. Accordingly, there is a great need to further understand the psychobiology of AS and its association with other disorders, which should expand the pharmacological and non-pharmacological therapeutic options and improve the quality of life for AS patients.

  17. Cushing's syndrome: why is diagnosis so difficult?

    Science.gov (United States)

    Aron, David C

    2010-06-01

    Practicing and perfecting the art of medicine demands recognition that uncertainty permeates all clinical decisions. When delivering clinical care, clinicians face a multiplicity of potential diagnoses, limitations in diagnostic capacity, and "sub-clinical" disease identified by tests rather than by clinical manifestations. In addition, clinicians must recognize the rapid changes in scientific knowledge needed to guide decisions. Cushing's syndrome is one of several disorders in which there may be considerable difficulty and delay in diagnosis. This article describes a current model of clinical reasoning, some of its challenges, and the application of the principles of clinical epidemiology to meet some of those challenges.

  18. Diagnosis and classification of Susac syndrome.

    Science.gov (United States)

    García-Carrasco, Mario; Mendoza-Pinto, Claudia; Cervera, Ricard

    2014-01-01

    Susac syndrome (SS) is an autoimmune disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusions and neuro-sensorial hearing loss; it is due to a microangiopathy affecting the precapillary arterioles of the brain, retina and inner ear. SS is characterized by typical radiological features on magnetic resonance imaging (MRI) which, together with clinical symptoms, may permit a diagnosis. Branch retinal artery occlusions (BRAOs) are best evaluated using fluorescein angiography (FA) which may show the typical multifocal fluorescence. SS is an autoimmune endotheliopathy that requires treatment with immunosuppressive agents: steroids, azathioprine, mycophenolate mofetil, methotrexate, cyclophosphamide and intravenous immunoglobulin, usually in combination. Plasma exchange is also useful. In addition, antiplatelet agents may be a useful adjunct. Correct immunosuppressive therapy results in significant clinical and radiological improvement. An early diagnosis and treatment are important to delay the disease progression and prevent permanent disability. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Recommendations for the diagnosis and management of Turner syndrome.

    Science.gov (United States)

    Saenger, P; Wikland, K A; Conway, G S; Davenport, M; Gravholt, C H; Hintz, R; Hovatta, O; Hultcrantz, M; Landin-Wilhelmsen, K; Lin, A; Lippe, B; Pasquino, A M; Ranke, M B; Rosenfeld, R; Silberbach, M

    2001-07-01

    Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented.

  20. Fibromyalgia Syndrome: Etiology, Pathogenesis, Diagnosis, and Treatment

    Directory of Open Access Journals (Sweden)

    Enrico Bellato

    2012-01-01

    Full Text Available Fibromyalgia syndrome is mainly characterized by pain, fatigue, and sleep disruption. The etiology of fibromyalgia is still unclear: if central sensitization is considered to be the main mechanism involved, then many other factors, genetic, immunological, and hormonal, may play an important role. The diagnosis is typically clinical (there are no laboratory abnormalities and the physician must concentrate on pain and on its features. Additional symptoms (e.g., Raynaud’s phenomenon, irritable bowel disease, and heat and cold intolerance can be associated with this condition. A careful differential diagnosis is mandatory: fibromyalgia is not a diagnosis of exclusion. Since 1990, diagnosis has been principally based on the two major diagnostic criteria defined by the ACR. Recently, new criteria have been proposed. The main goals of the treatment are to alleviate pain, increase restorative sleep, and improve physical function. A multidisciplinary approach is optimal. While most nonsteroidal anti-inflammatory drugs and opioids have limited benefit, an important role is played by antidepressants and neuromodulating antiepileptics: currently duloxetine (NNT for a 30% pain reduction 7.2, milnacipran (NNT 19, and pregabalin (NNT 8.6 are the only drugs approved by the US Food and Drug Administration for the treatment of fibromyalgia. In addition, nonpharmacological treatments should be associated with drug therapy.

  1. Hepatorenal syndrome: Update on diagnosis and therapy

    Science.gov (United States)

    Acevedo, Juan G; Cramp, Matthew E

    2017-01-01

    Hepatorenal syndrome (HRS) is a manifestation of extreme circulatory dysfunction and entails high morbidity and mortality. A new definition has been recently recommended by the International Club of Ascites, according to which HRS diagnosis relies in serum creatinine changes instead that on a fixed high value. Moreover, new data on urinary biomarkers has been recently published. In this sense, the use of urinary neutrophil gelatinase-associated lipocalin seems useful to identify patients with acute tubular necrosis and should be employed in the diagnostic algorithm. Treatment with terlipressin and albumin is the current standard of care. Recent data show that terlipressin in intravenous continuous infusion is better tolerated than intravenous boluses and has the same efficacy. Terlipressin is effective in reversing HRS in only 40%-50% of patients. Serum bilirubin and creatinine levels along with the increase in blood pressure and the presence of systemic inflammatory response syndrome have been identified as predictors of response. Clearly, there is a need for further research in novel treatments. Other treatments have been assessed such as noradrenaline, dopamine, transjugular intrahepatic portosystemic shunt, renal and liver replacement therapy, etc. Among all of them, liver transplant is the only curative option and should be considered in all patients. HRS can be prevented with volume expansion with albumin during spontaneous bacterial peritonitis and after post large volume paracentesis, and with antibiotic prophylaxis in patients with advanced cirrhosis and low proteins in the ascitic fluid. This manuscript reviews the recent advances in the diagnosis and management of this life-threatening condition.

  2. Medical management of the acute radiation syndrome.

    Science.gov (United States)

    López, Mario; Martín, Margarita

    2011-07-13

    The acute radiation syndrome (ARS) occurs after whole-body or significant partial-body irradiation (typically at a dose of >1 Gy). ARS can involve the hematopoietic, cutaneous, gastrointestinal and the neurovascular organ systems either individually or in combination. There is a correlation between the severity of clinical signs and symptoms of ARS and radiation dose. Radiation induced multi-organ failure (MOF) describes the progressive dysfunction of two or more organ systems over time. Radiation combined injury (RCI) is defined as radiation injury combined with blunt or penetrating trauma, burns, blast, or infection. The classic syndromes are: hematopoietic (doses >2-3 Gy), gastrointestinal (doses 5-12 Gy) and cerebrovascular syndrome (doses 10-20 Gy). There is no possibility to survive after doses >10-12 Gy. The Phases of ARS are-prodromal: 0-2 days from exposure, latent: 2-20 days, and manifest illness: 21-60 days from exposure. Granulocyte-colony stimulating factor (G-CSF) at a dose of 5 μg/kg body weight per day subcutaneously has been recommended as treatment of neutropenia, and antibiotics, antiviral and antifungal agents for prevention or treatment of infections. If taken within the first hours of contamination, stable iodine in the form of nonradioactive potassium iodide (KI) saturates iodine binding sites within the thyroid and inhibits incorporation of radioiodines into the gland. Finally, if severe aplasia persists under cytokines for more than 14 days, the possibility of a hematopoietic stem cell (HSC) transplantation should be evaluated. This review will focus on the clinical aspects of the ARS, using the European triage system (METREPOL) to evaluate the severity of radiation injury, and scoring groups of patients for the general and specific management of the syndrome.

  3. Diagnosis and diagnostic tests for fibromyalgia (syndrome

    Directory of Open Access Journals (Sweden)

    F. Wolfe

    2012-09-01

    Full Text Available Objectives: To present diagnostic criteria for the clinical diagnosis of fibromyalgia syndrome (FMS and to offer a scheme for diagnostic work-up in clinical practice. Methods: Narrative review of the literature, consensus documents by the American College of Rheumatology (ACR, evidence-based interdisciplinary German guidelines on the diagnosis and management of FMS. Results: The ACR 1990 classification criteria emphasized tender points and widespread pain as the key features of FMS. In 2010, the ACR proposed preliminary diagnostic criteria for fibromyalgia that abandoned the tender point count and placed increased emphasis of patient symptoms. A later modification of the ACR 2010 criteria for use in surveys employed a self-report questionnaire (Fibromyalgia Survey Questionnaire FSQ to assess patient symptoms. The FSQ can be used to assist physician’s diagnosis of FMS. We recommend a stepwise diagnostic work-up of patients with chronic widespread pain (CWP in primary care: Complete medical history including medication, complete medical examination, basic laboratory tests to screen for inflammatory or endocrinology diseases, referral to specialists only in case of suspected somatic diseases, assessment of limitations of daily functioning, screening for other functional somatic symptoms and mental disorders, and referring to mental health specialists in case of mental disorder. Conclusions: The diagnosis of FMS is easy in most patients with CWP and does not ordinarily require a rheumatologist. A rheumatologist’s expertise might be needed to exclude difficult to diagnose or concomitant inflammatory rheumatic diseases. In the presence of mental illness referral to a mental health specialist for evaluation is recommended.

  4. Diagnosis of TIG welding based on ultraviolet radiation

    Institute of Scientific and Technical Information of China (English)

    Li Zhiyong; Gu Xiaoyan; Wang Bao

    2009-01-01

    Through collecting the radiation of tungsten inert gas (TIG) welding arc, the radiation distribution in ultraviolet zone is analyzed in order to study the variation rule of ultraviolet radiation versus welding condition. The explanation for the variation is also provided bused on spectral radiation theory of arc light. Furthermore, through analysis of disturbanee factors, the integral intensity signal of radiation in ultraviolet zone is applied for diagnosis of welding process. The spectral signal of ultraviolet radiation can reflect the disturbance factors and welding conditions, which can be used for online diagnosis of welding process.

  5. Radiation-induced neuroinflammation and radiation somnolence syndrome.

    Science.gov (United States)

    Ballesteros-Zebadúa, Paola; Chavarria, Anahi; Celis, Miguel Angel; Paz, Carlos; Franco-Pérez, Javier

    2012-11-01

    Cranial irradiation remains a standard treatment for malignant and benign brain diseases. Although this procedure helps to lengthen the life expectancy of the patient, the appearance of adverse effects related to radiation-induced injury is inevitable. Radiation somnolence syndrome (RSS) has been described as a delayed effect observed mainly after whole-brain radiotherapy in children. The RSS was first linked to demyelination, but more recently it has been proposed that the inflammatory response plays a primary role in the aforementioned syndrome. To evaluate the feasibility of this hypothesis, we explored previous work about RSS and reviewed published research that included measurements of the inflammatory response in models of brain exposure to ionizing radiation. Pro-inflammatory cytokines such as interleukin-1β, tumor necrosis factor-α, interleukin-6 and interleukin-18 as well as other inflammatory markers such as cyclooxygenase-2, prostaglandin E₂, glial fibrillary acid protein, intercellular adhesion molecule-1 and nuclear factor-κB appear to be involved in the brain's response to radiation. However, certain publications have described the somnogenic effects of these cytokines and inflammatory markers. Although the radiation response is a complex phenomenon that involves several molecular and cellular processes, we propose that inflammation may be closely related to the adverse effects of brain irradiation and therefore to the etiology of RSS.

  6. Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Neerja Gupta

    2013-01-01

    Full Text Available Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

  7. Irritable bowel syndrome: Diagnosis and pathogenesis

    Institute of Scientific and Technical Information of China (English)

    Magdy El-Salhy

    2012-01-01

    Irritable bowel syndrome (IBS) is a common gastrointestinal (GI) disorder that considerably reduces the quality of life.It further represents an economic burden on society due to the high consumption of healthcare resources and the non-productivity of IBS patients.The diagnosis of IBS is based on symptom assessment and the Rome Ⅲ criteria.A combination of the Rome Ⅲ criteria,a physical examination,blood tests,gastroscopy and colonoscopy with biopsies is believed to be necessary for diagnosis.Duodenal chromogranin A cell density is a promising biomarker for the diagnosis of IBS.The pathogenesis of IBS seems to be multifactorial,with the following factors playing a central role in the pathogenesis of IBS:heritability and genetics,dietary/intestinal microbiota,low-grade inflammation,and disturbances in the neuroendocrine system (NES) of the gut.One hypothesis proposes that the cause of IBS is an altered NES,which would cause abnormal GI motility,secretions and sensation.All of these abnormalities are characteristic of IBS.Alterations in the NES could be the result of one or more of the following:genetic factors,dietary intake,intestinal flora,or low-grade inflammation.Post-infectious IBS (PI-IBS) and inflammatory bowel disease-associated IBS (IBD-IBS) represent a considerable subset of IBS cases.Patients with PI-and IBD-IBS exhibit low-grade mucosal inflammation,as well as abnormalities in the NES of the gut.

  8. Diagnosis Delayed but not Denied - Sheehan’s syndrome

    OpenAIRE

    Vijayeshree Thyagaraj; MJ Vinod Kumar

    2015-01-01

    Sheehan’s syndrome is a rare complication of postpartum hemorrhage. With advancement in obstetric care, Sheehan's syndrome has become uncommon except in developing countries. Here, we report a patient with Sheehan’s syndrome who escaped diagnosis for 22 years and presented with life threatening complications. This patient also had certain unusual features of Sheehan’s syndrome like pancytopenia and renal failure. A high index of suspicion is necessary in diagnosing such patients. ...

  9. Reconstructive dosimetry for cutaneous radiation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lima, C.M.A.; Lima, A.R.; Degenhardt, Ä.L.; Da Silva, F.C.A., E-mail: dasilva@ird.gov.br [Instituto de Radioprotecao e Dosimetria (IRD/CNEN-RJ), Rio de Janeiro, RJ (Brazil); Valverde, N.J. [Fundacao Eletronuclear de Assistencia Medica, Rio de Janeiro, RJ (Brazil)

    2015-10-15

    According to the International Atomic Energy Agency (IAEA), a relatively significant number of radiological accidents have occurred in recent years mainly because of the practices referred to as potentially high-risk activities, such as radiotherapy, large irradiators and industrial radiography, especially in gammagraphy assays. In some instances, severe injuries have occurred in exposed persons due to high radiation doses. In industrial radiography, 80 cases involving a total of 120 radiation workers, 110 members of the public including 12 deaths have been recorded up to 2014. Radiological accidents in industrial practices in Brazil have mainly resulted in development of cutaneous radiation syndrome (CRS) in hands and fingers. Brazilian data include 5 serious cases related to industrial gammagraphy, affecting 7 radiation workers and 19 members of the public; however, none of them were fatal. Some methods of reconstructive dosimetry have been used to estimate the radiation dose to assist in prescribing medical treatment. The type and development of cutaneous manifestations in the exposed areas of a person is the first achievable gross dose estimation. This review article presents the state-of-the-art reconstructive dosimetry methods enabling estimation of local radiation doses and provides guidelines for medical handling of the exposed individuals. The review also presents the Chilean and Brazilian radiological accident cases to highlight the importance of reconstructive dosimetry. (author)

  10. Reconstructive dosimetry for cutaneous radiation syndrome.

    Science.gov (United States)

    Lima, C M A; Lima, A R; Degenhardt, Ä L; Valverde, N J; Silva, F C A da

    2015-10-01

    According to the International Atomic Energy Agency (IAEA), a relatively significant number of radiological accidents have occurred in recent years mainly because of the practices referred to as potentially high-risk activities, such as radiotherapy, large irradiators and industrial radiography, especially in gammagraphy assays. In some instances, severe injuries have occurred in exposed persons due to high radiation doses. In industrial radiography, 80 cases involving a total of 120 radiation workers, 110 members of the public including 12 deaths have been recorded up to 2014. Radiological accidents in industrial practices in Brazil have mainly resulted in development of cutaneous radiation syndrome (CRS) in hands and fingers. Brazilian data include 5 serious cases related to industrial gammagraphy, affecting 7 radiation workers and 19 members of the public; however, none of them were fatal. Some methods of reconstructive dosimetry have been used to estimate the radiation dose to assist in prescribing medical treatment. The type and development of cutaneous manifestations in the exposed areas of a person is the first achievable gross dose estimation. This review article presents the state-of-the-art reconstructive dosimetry methods enabling estimation of local radiation doses and provides guidelines for medical handling of the exposed individuals. The review also presents the Chilean and Brazilian radiological accident cases to highlight the importance of reconstructive dosimetry.

  11. Reconstructive dosimetry for cutaneous radiation syndrome

    Directory of Open Access Journals (Sweden)

    C.M.A. Lima

    2015-01-01

    Full Text Available According to the International Atomic Energy Agency (IAEA, a relatively significant number of radiological accidents have occurred in recent years mainly because of the practices referred to as potentially high-risk activities, such as radiotherapy, large irradiators and industrial radiography, especially in gammagraphy assays. In some instances, severe injuries have occurred in exposed persons due to high radiation doses. In industrial radiography, 80 cases involving a total of 120 radiation workers, 110 members of the public including 12 deaths have been recorded up to 2014. Radiological accidents in industrial practices in Brazil have mainly resulted in development of cutaneous radiation syndrome (CRS in hands and fingers. Brazilian data include 5 serious cases related to industrial gammagraphy, affecting 7 radiation workers and 19 members of the public; however, none of them were fatal. Some methods of reconstructive dosimetry have been used to estimate the radiation dose to assist in prescribing medical treatment. The type and development of cutaneous manifestations in the exposed areas of a person is the first achievable gross dose estimation. This review article presents the state-of-the-art reconstructive dosimetry methods enabling estimation of local radiation doses and provides guidelines for medical handling of the exposed individuals. The review also presents the Chilean and Brazilian radiological accident cases to highlight the importance of reconstructive dosimetry.

  12. Polycystic ovarian syndrome: diagnosis and management.

    Science.gov (United States)

    Sheehan, Michael T

    2004-02-01

    Polycystic ovarian syndrome (PCOS) affects 4% to 12% of women of reproductive age. The lack of well-defined diagnostic criteria makes identification of this common disease confusing to many clinicians. Also, with the varied manifestations of the disorder a patient may present to any one of several providers: an internist, family practitioner, nurse practitioner, pediatrician, gynecologist, dermatologist, or endocrinologist. Furthermore, the most distressing aspect of PCOS for any given patient may change over time, from hirsutism as a teenager to infertility as a young adult--potentially requiring several different providers along the way. It is important, therefore, that those caring for these patients understand not only the management issues pertinent to their specialty, but also appreciate the other potential health risks in these women. Recent insights into the pathophysiology of PCOS have shown insulin resistance to play a substantial role and as such have brought the long-term issues of type 2 diabetes mellitus and its resultant increased risk of coronary artery disease to the forefront. No longer can irregular menses and/or hirsutism be thought of as benign nuisances. This review will focus on the two most confusing aspects of PCOS for the practicing provider--diagnosis/differential diagnosis and treatment options. Special attention is given to the role of insulin resistance and the potential utility of insulin sensitizers in management. The benefit and utmost importance of lifestyle modification for the long-term health of these women is stressed as well. It is hoped that some clarity in this regard will allow more women to not only be diagnosed and managed properly for their presenting symptoms (hirsutism, irregular menses, etc.), but also to be educated and managed for the continuing health risk of insulin resistance throughout their lives.

  13. Diagnosis and treatment of irritable bowel syndrome.

    Science.gov (United States)

    Suares, Nicole C; Ford, Alexander C

    2011-05-01

    Irritable bowel syndrome (IBS) is a chronic functional disorder of the gastrointestinal tract. The exact cause is unknown. The diagnosis should be made on clinical grounds, using symptom-based criteria such as the Manning or Rome criteria, unless symptoms are thought to be atypical. Excluding celiac disease in all patients consulting with symptoms suggestive of IBS is worthwhile, but evidence for performing other investigations to exclude organic disease is not convincing. No medical therapy for IBS has been shown to alter the disease course, and treatment has traditionally been directed towards symptom relief. The aim should be to improve the predominant symptom reported by the patient. Fiber, peppermint oil, or antispasmodic agents are beneficial as first-line therapies in some patients. Where these fail, emerging data have confirmed the efficacy of antidepressants, drugs acting on the 5-hydroxytryptamine receptor, and probiotics in the short-term treatment of IBS. There are a number of novel therapies under development that show promise, including non-absorbable antibiotics, lubiprostone, and linaclotide. This article will provide a summary of diagnostic criteria for IBS, evidence to support investigations to exclude organic disease, and current and emerging therapies in this field.

  14. The differential diagnosis of familial lentiginosis syndromes.

    Science.gov (United States)

    Lodish, Maya B; Stratakis, Constantine A

    2011-09-01

    Cutaneous markers of systemic disease are vital for clinicians to recognize. This chapter outlines familial lentiginosis syndromes that include Peutz-Jeghers syndrome, Carney Complex, the PTEN hamartomatous syndromes, and LEOPARD/Noonan syndrome. The inheritance of these syndromes is autosomal dominant; they also share characteristic skin findings that offer a clue to their recognition and treatment. We will discuss the clinical presentation of these disorders, with a focus on the dermatological manifestations, and will provide an update on the molecular mechanisms involved. Recognition of cutaneous markers associated with these rare familial cancer syndromes provides the opportunity to pursue early surveillance for malignancies, as well as genetic counseling.

  15. Symptoms and Diagnosis of Metabolic Syndrome

    Science.gov (United States)

    ... provider. How is metabolic syndrome diagnosed? To diagnose metabolic syndrome, most doctors look for the presence of three or more of these components: Central or abdominal obesity (measured by waist circumference): Men - greater than 40 ...

  16. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    Science.gov (United States)

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  17. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    Directory of Open Access Journals (Sweden)

    Md Abu Bakar Siddiq

    2014-01-01

    Full Text Available Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  18. Intestinal radiation syndrome: sepsis and endotoxin

    Energy Technology Data Exchange (ETDEWEB)

    Geraci, J.P.; Jackson, K.L.; Mariano, M.S.

    1985-03-01

    Rats were whole-body irradiated with 8-MeV cyclotron-produced neutrons and /sup 137/Cs ..gamma.. rays to study the role of enteric bacteria and endotoxin in the intestinal radiation syndrome. Decrease in intestinal weight was used as an index of radiation-induced breakdown of the mucosa. Neutron and ..gamma..-ray doses that were sublethal for intestinal death resulted in a dose-dependent decrease in intestinal weight, reaching minimal values 2 to 3 days after exposure, followed by recovery within 5 days after irradiation. Neutron and photon doses that caused intestinal death resulted in greater mucosal breakdown with little or no evidence of mucosal recovery. The presence of fluid in the intestine and diarrhea, but not bacteremia or endotoxemia, were related to mucosal breakdown and recovery. Neither sepsis nor endotoxin could be detected in liver samples taken at autopsy from animals which died a short time earlier from intestinal injury. These results suggest that overt sepsis and endotoxemia do not play a significant role in the intestinal radiation syndrome.

  19. Anal sphincter EMG in the diagnosis of parkinsonian syndromes

    DEFF Research Database (Denmark)

    Winge, K; Jennum, Poul Jørgen; Løkkegaard, Annemette;

    2010-01-01

    The role of electromyography (EMG) recorded from the external anal sphincter (EAS) in the diagnosis of atypical parkinsonian syndromes is a matter for continuous debate. Most studies addressing this issue are retrospective.......The role of electromyography (EMG) recorded from the external anal sphincter (EAS) in the diagnosis of atypical parkinsonian syndromes is a matter for continuous debate. Most studies addressing this issue are retrospective....

  20. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

    Science.gov (United States)

    Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

    2014-03-01

    Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome.

  1. Management of cutaneous radiation injuries: diagnostic and therapeutic principles of the cutaneous radiation syndrome.

    Science.gov (United States)

    Peter, Ralf Uwe; Gottlöber, Petra

    2002-02-01

    The cutaneous symptoms that appear after radiation exposure are caused by a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated proinflammatory cytokines and growth factors. The symptoms follow a time course consisting of prodromal erythema, manifestation, chronic stage, and late stage; these symptoms are referred to as cutaneous radiation syndrome (CRS). The time course depends on several factors such as the applied radiation dose, radiation quality, individual radiation sensitivity, extent of contamination and absorption, and volume of skin exposed. For diagnosis of CRS, the following procedures are used: 7.5 to 20 MHz B-scan sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy, and histology. Based on the results of previous experimental and clinical research, pharmacotherapy of CRS can include topical or systemic application of corticosteroids, gamma interferon, pentoxifylline and vitamin E, and superoxide dismutase. The treatment varies according to the stage of CRS. Due to the complexity of the clinical manifestations of radiation disease in most patients, interdisciplinary treatment at specialized centers is necessary. In most cases, dermatologists are asked to provide lifelong therapy and follow-up of the patients.

  2. Hematopoietic Acute Radiation Syndrome (Bone marrow syndrome, Aplastic Anemia): Molecular Mechanisms of Radiation Toxicity.

    Science.gov (United States)

    Popov, Dmitri

    Key Words: Aplastic Anemia (AA), Pluripotential Stem Cells (PSC) Introduction: Aplastic Anemia (AA) is a disorder of the pluripotential stem cells involve a decrease in the number of cells of myeloid, erythroid and megakaryotic lineage [Segel et al. 2000 ]. The etiology of AA include idiopathic cases and secondary aplastic anemia after exposure to drugs, toxins, chemicals, viral infections, lympho-proliferative diseases, radiation, genetic causes, myelodisplastic syndromes and hypoplastic anemias, thymomas, lymphomas. [Brodskyet al. 2005.,Modan et al. 1975., Szklo et al. 1975]. Hematopoietic Acute Radiation Syndrome (or Bone marrow syndrome, or Radiation-Acquired Aplastic Anemia) is the acute toxic syndrome which usually occurs with a dose of irradiation between 0.7 and 10 Gy (70- 1000 rads), depending on the species irradiated. [Waselenko et al., 2004]. The etiology of bone morrow damage from high-level radiation exposure results depends on the radiosensitivity of certain bone marrow cell lines. [Waselenko et al. 2004] Aplastic anemia after radiation exposure is a clinical syndrome that results from a marked disorder of bone marrow blood cell production. [Waselenko et al. 2004] Radiation hematotoxicity is mediated via genotoxic and other specific toxic mechanisms, leading to aplasia, cell apoptosis or necrosis, initiation via genetic mechanisms of clonal disorders, in cases such as the acute radiation-acquired form of AA. AA results from radiation injury to pluripotential and multipotential stem cells in the bone marrow. The clinical signs displayed in reticulocytopenia, anemia, granulocytopenia, monocytopenia, and thrombocytopenia. The number of marrow CD34+ cells (multipotential hematopoietic progenitors) and their derivative colony-forming unit{granulocyte-macrophage (CFU-GM) and burst forming unit {erythroid (BFU{E) are reduced markedly in patients with AA. [Guinan 2011, Brodski et al. 2005, Beutler et al.,2000] Cells expressing CD34 (CD34+ cell) are normally

  3. First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-12-01

    Conclusion: Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib–polydactyly syndrome, Bardet–Biedl syndrome, orofaciodigital syndrome, Smith–Lemli–Opitz syndrome, and hydrolethalus syndrome.

  4. Metabolic syndrome in children and adolescents - criteria for diagnosis

    OpenAIRE

    Mancini Marcio C

    2009-01-01

    Abstract In recent years, there has been a greater concern about the presence of obesity and metabolic syndrome in children and adolescents. However, there is no consensus regarding the diagnosis of metabolic syndrome in children and adolescents. It is evident that each component of the syndrome must be identified as early as possible in order to prevent definitive lesions. The question is how to do this and which cut-offs must be adopted for this diagnosis. For a matter of convenience, the d...

  5. Electromyographic diagnosis of the carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    K. Toyonaga

    1978-06-01

    Full Text Available Sensory conduction velocities of the median nerVe were studied from digit to palm and from palm to wrist in normal subjects and in patients with the carpal tunnel syndrome. Definite slowing was noted in the palm to wrist segment, even in the early carpal tunnel syndrome. It was noted that 37% of normal women over 40 years of age had electrophysiological evidence of the carpal tunnel syndrome.

  6. Stroke-like Migraine Attacks after Radiation Therapy Syndrome

    Institute of Scientific and Technical Information of China (English)

    Qian Zheng; Li Yang; Li-Ming Tan; Li-Xia Qin; Chun-Yu Wang; Hai-Nan Zhang

    2015-01-01

    Objective:To summarize the clinical presentation,pathogenesis,neuroimaging,treatment,and outcome of stroke-like migraine attacks after radiation therapy (SMART) syndrome,and to propose diagnostic criteria for this disorder.Data Sources:We searched the PubMed database for articles in English published from 1995 to 2015 using the terms of "stroke-like AND migraine AND radiation." Reference lists of the identified articles and reviews were used to retrieve additional articles.Study Selection:Data and articles related to late-onset effects of cerebral radiation were selected and reviewed.Results:SMART is a rare condition that involves complex migraines with focal neurologic deficits following cranial irradiation for central nervous system malignancies.The recovery,which ranges from hours to days to weeks,can be partial or complete.We propose the following diagnostic criteria for SMART:(1) Remote history of therapeutic external beam cranial irradiation for malignancy;(2) prolonged,reversible clinical manifestations mostly years after irradiation,which may include migraine,seizures,hemiparesis,hemisensory deficits,visuospatial defect,aphasia,confusion and so on;(3) reversible,transient,unilateral cortical gadolinium enhancement correlative abnormal T2 and fluid-attenuated inversion recovery signal of the affected cerebral region;(4) eventual complete or partial recovery,the length of duration of recovery ranging from hours to days to weeks;(5) no evidence of residual or recurrent tumor;(6) not attributable to another disease.To date,no specific treatment has been identified for this syndrome.Conclusions:SMART is an extremely rare delayed complication of brain irradiation.However,improvements in cancer survival rates have resulted in a rise in its frequency.Hence,awareness and recognition of the syndrome is important to make a rapid diagnosis and avoid aggressive interventions such as brain biopsy and cerebral angiography.

  7. Metabolic syndrome in children and adolescents - criteria for diagnosis

    Directory of Open Access Journals (Sweden)

    Mancini Marcio C

    2009-10-01

    Full Text Available Abstract In recent years, there has been a greater concern about the presence of obesity and metabolic syndrome in children and adolescents. However, there is no consensus regarding the diagnosis of metabolic syndrome in children and adolescents. It is evident that each component of the syndrome must be identified as early as possible in order to prevent definitive lesions. The question is how to do this and which cut-offs must be adopted for this diagnosis. For a matter of convenience, the definition chosen as the most appropriate is the one proposed by the IDF, with cut-offs fixed for pressure, lipids and glycemia, and abdominal circumference points assessed by percentile. Although on the one hand this definition could fail to include some children in the diagnosis of Metabolic Syndrome, on the other hand, it would be of easier acceptance as it does not use multiple tables to assess several anthropometric and metabolic criteria.

  8. Prevalence, incidence, and age at diagnosis in Marfan Syndrome

    DEFF Research Database (Denmark)

    Groth, Kristian A; Hove, Hanne; Kyhl, Kasper

    2015-01-01

    Background: Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria...... have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome. Method: Using unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977......-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology. Results: We identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014...

  9. [The role of insulin resistance in diagnosis of metabolic syndrome].

    Science.gov (United States)

    Roĭtberg, G E; Ushakova, T I; Dorosh, Zh V

    2004-01-01

    Early diagnosis of metabolic syndrome is based on detection of insulin resistance, hyperinsulinemia, and clinical presentations of this syndrome. Differences in approaches to diagnosis of metabolic syndrome and its multi component nature hamper comparison of results of different studies and elaboration of generalized guidelines for selection of high risk groups and prevention of cardiovascular diseases and type 2 diabetes. Until present there are no common criteria of the syndrome and this makes difficult standardization of methodology of its investigation. Several organizations (WHO, National Cholesterol Education Program, European Group for the Study of Insulin Resistance) issued documents in which diagnostic approaches to detection of metabolic syndrome and its separate components have been formulated. These approaches as well as comparative analysis of direct and calculated methods of assessment of insulin resistance are presented in this review.

  10. The "BUONGIORNO" project: burnout syndrome among young Italian radiation oncologists.

    Science.gov (United States)

    Ciammella, Patrizia; De Bari, Berardino; Fiorentino, Alba; Franco, Pierfrancesco; Cavuto, Silvio; Alongi, Filippo; Livi, Lorenzo; Filippi, Andrea Riccardo

    2013-10-01

    Few data exist about the prevalence of burnout syndrome among young radiation oncologists. A national survey to assess its prevalence among junior members (under 40 yrs of age) of the Italian Society of Radiation Oncology was conducted. One hundred and twelve young radiation oncologists completed the questionnaire: the prevalence of burnout syndrome was 35%, and it was related to the presence of different personal, organizational, and work-related aspects, with an impact also on the private life (pBurnout syndrome is relatively common among young Italian radiation oncologists, and specific educational tools to help improve the management of workload and stress are needed.

  11. Dual Diagnosis of Down Syndrome & Autism

    Science.gov (United States)

    ... Down syndrome in particular. Some of the same symptoms which occur in DS-ASD are also seen in stereotypy movement disorder, major depression, post-traumatic stress disorder, acute adjustment reactions, obsessive- ...

  12. Diagnosis of Acute Coronary Syndrome with a Support Vector Machine.

    Science.gov (United States)

    Berikol, Göksu Bozdereli; Yildiz, Oktay; Özcan, I Türkay

    2016-04-01

    Acute coronary syndrome (ACS) is a serious condition arising from an imbalance of supply and demand to meet myocardium's metabolic needs. Patients typically present with retrosternal chest pain radiating to neck and left arm. Electrocardiography (ECG) and laboratory tests are used indiagnosis. However in emergency departments, there are some difficulties for physicians to decide whether hospitalizing, following up or discharging the patient. The aim of the study is to diagnose ACS and helping the physician with his decisionto discharge or to hospitalizevia machine learning techniques such as support vector machine (SVM) by using patient data including age, sex, risk factors, and cardiac enzymes (CK-MB, Troponin I) of patients presenting to emergency department with chest pain. Clinical, laboratory, and imaging data of 228 patients presenting to emergency department with chest pain were reviewedand the performance of support vector machine. Four different methods (Support vector machine (SVM), Artificial neural network (ANN), Naïve Bayes and Logistic Regression) were tested and the results of SVM which has the highest accuracy is reported. Among 228 patients aged 19 to 91 years who were included in the study, 99 (43.4 %) were qualified as ACS, while 129 (56.5 %) had no ACS. The classification model using SVM attained a 99.13 % classification success. The present study showed a 99.13 % classification success for ACS diagnosis attained by Support Vector Machine. This study showed that machine learning techniques may help emergency department staff make decisions by rapidly producing relevant data.

  13. Rett syndrome molecular diagnosis and implications in genetic counseling

    Directory of Open Access Journals (Sweden)

    Noruzinia M

    2007-01-01

    Full Text Available Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However clinical diagnosis can be very difficult when the expression is not in the classical form. Mutations in MeCP2 are responsible for 80% of cases. When MeCP2 mutation is found in an index case, genetic counseling is similar to that in other X-linked dominant genetic diseases. However, mutations in this gene can cause a spectrum of atypical forms. On the other hand, other genetic conditions like translocations, sex chromosome numerical anomalies, and mutations in other genes can complicate genetic counseling in this syndrome. We present the first case of molecular diagnosis of Rett syndrome in Iran and discuss the recent developments in its genetic counseling.

  14. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  15. The clinical diagnosis of the narcoleptic syndrome.

    Science.gov (United States)

    Parkes, J D; Chen, S Y; Clift, S J; Dahlitz, M J; Dunn, G

    1998-03-01

    Sleep-wake habits and control of postural muscle tone were investigated by self-report questionnaire in 183 subjects considered to have the narcoleptic syndrome, 62 subjects with hypersomnia and 10 with obstructive sleep apnoea. Results were compared with those in a group of 188 control subjects with normal sleep wake habits. Excessive daytime sleepiness, determined by the Epworth Sleepiness Scale (ESS), was five times greater in the narcoleptic syndrome than in control subjects (score range 0-24, mean scores +/-SD 19.6+/-3.0; and 4.5+/-3.3 respectively; Ppostural tone in response to sudden emotional stimuli, including laughter, was 10 times greater in narcoleptic syndrome than in control subjects (postural atonia total score range 0-600; mean + SD 334+/-122 and 28+/-45, respectively; Ppostural atonia scores were similar to those of control subjects.

  16. Prenatal sonographic diagnosis of Aarskog syndrome.

    Science.gov (United States)

    Sepulveda, W; Dezerega, V; Horvath, E; Aracena, M

    1999-10-01

    In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

  17. The Haglund syndrome: initial and differential diagnosis.

    Science.gov (United States)

    Pavlov, H; Heneghan, M A; Hersh, A; Goldman, A B; Vigorita, V

    1982-07-01

    Haglund syndrome is a common cause of posterior heel pain, characterized clinically by a painful soft-tissue swelling at the level of the achilles tendon insertion. On the lateral heel radiograph the syndrome is characterized by a prominent calcaneal bursal projection, retrocalcaneal bursitis, thickening of the Achilles tendon, and a convexity of the superficial soft tissues at the level of the Achilles tendon insertion, a "pump-bump." An objective method for evaluating prominence of the bursal projection is measurement using the parallel pitch lines. This measurement helps to identify patients with Haglund syndrome and patients predisposed to develop this condition, and also to differentiate local causes of posterior heel pain from systemic causes. The parallel pitch line measurement was determined in 10 symptomatic feet and 78 control feet and the results were analyzed statistically.

  18. Feasibility of radiation dose range capable to cause subacute course of radiation syndrome

    Directory of Open Access Journals (Sweden)

    Krasnyuk V.I.

    2013-12-01

    Full Text Available There had been analysed cases of radiation syndrome which clinical picture takes an intermediate place between the acute radiation syndrome (ARS and the chronic radiation syndrome (CRS, and differs from them because of a subacute. This variant of disease can develop as a result of the fractioned or prolonged radiation lasting from several days to several weeks. Development of primary reaction took place only in the extremely hard cases which ends with an early fatality. After the general radiation the marrow failure was characterized by directly expressed formation and restoration period, specific features of which were defined by the radiation duration, a total dose and dose derivative. The most typical outcomes of a subacute radiation syndrome are death from infectious complications in the period of an eruptive phase or leukosis development in the remote period.

  19. Melkersson-Rosenthal Syndrome: A forgotten diagnosis

    Directory of Open Access Journals (Sweden)

    Michael D. Karon

    2012-03-01

    Full Text Available The rare, non-caseating, granulomatous disease known as Melkersson-Rosenthal syndrome (MRS can be diagnostically difficult especially when not presenting as the characteristic triad of facial palsy, facial edema, and fissured tongue.1 We present a case of a 65-year-old female with a 15-year history of recurrent bilateral upper eyelid swelling previously unsuccessfully treated for a presumed lid allergy and rosacea. Following imaging and histopathology results, she has now been diagnosed with Melkersson-Rosenthal syndrome. Since this disease is typically refractory to treatment, she is being followed and treated with cosmetic eyelid skin reduction if necessary during inactive stages of the disease.

  20. Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound

    Institute of Scientific and Technical Information of China (English)

    Claudio; Rodrigues; Pires; Edward; Araujo; Júnior; Adriano; Czapkowski; Sebasti?o; Marques; Zanforlin; Filho

    2014-01-01

    Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities(spasms),agenesis of the corpus callosum and ophthalmological abnormalities(chorioretinal lacunae).The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum.Usually,the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.We present a case of newborn with Aicardi syndrome,being the transfontanellar identified partial dysgenesis of the corpus callosum and a cyst in the inter-hemispheric fissure.Ophthalmological examination showed bilateral chorioretinal lacunae.

  1. ANTIPHOSPHOLIPID SYNDROME: DIAGNOSIS AND CLINICAL MANIFESTATIONS (A LECTURE

    Directory of Open Access Journals (Sweden)

    Tat’yana M Reshetnyak

    2014-01-01

    Full Text Available The lecture provides information about the etiology and pathogenesis of antiphospholipid syndrome (APS and genetic susceptibility to its development. The most recent international diagnostic criteria for APS and its variants have been reported. This syndrome can affect multiple organ systems depending on localization of thrombosis; therefore, nowadays the problem of APS is multidisciplinary. Clinical manifestations of APS are rather general (thrombosis of different localization; thus, the diagnosis can be verified only in the case of presence of antiphospholipid antibodies. The differential diagnosis of APS is discussed.

  2. Ultrasound diagnosis of ulnar nerve dislocation and snapping triceps syndrome

    Directory of Open Access Journals (Sweden)

    Vivek Bhagwat Gupta

    2012-06-01

    Full Text Available Dislocation of the ulnar nerve with snapping triceps syndrome has been implicated as a cause of cubital tunnel syndrome. Patients with this condition may clinically present with a snapping sensation at the elbow upon flexion along with ulnar neuropathic symptoms. Though demonstration of this condition is possible by static MRI images, ultrasound can be used as a more accessible and inexpensive modality for attaining diagnosis. This pictorial essay emphasises the technique, findings and role of dynamic ultrasound in the diagnosis of this entity.

  3. The diagnosis and management of Piriformis Syndrome: myths and facts.

    Science.gov (United States)

    Miller, T A; White, K P; Ross, D C

    2012-09-01

    Piriformis Syndrome (PS) is an uncommon, controversial neuromuscular disorder that is presumed to be a compression neuropathy of the sciatic nerve at the level of the piriformis muscle (PM). The diagnosis is hampered by a lack of agreed upon clinical criteria and a lack of definitive investigations such as imaging or electrodiagnostic testing. Treatment has focused on stretching, physical therapies, local injections, including botulinum toxin, and surgical management. This article explores the various sources of controversy surrounding piriformis syndrome including diagnosis, investigation and management. We conclude with a proposal for diagnostic criteria which include signs and symptoms, imaging, and response to therapeutic injections.

  4. Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes

    Science.gov (United States)

    Vora, Neeta; Bianchi, Diana W.

    2015-01-01

    Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. PMID:19609940

  5. Nosology and Diagnosis of Rett Syndrome

    Science.gov (United States)

    Matson, Johnny L.; Fodstad, Jill C.; Boisjoli, Jessica A.

    2008-01-01

    Rett Syndrome is one of the least commonly occurring autism spectrum disorders (ASD), but certainly one of the most devastating. A genetic profile has been identified, but checklists still have an important role for prescreening, especially before expensive genetic testing, and to provide precise strengths and weaknesses with respect to the core…

  6. Diagnosis and treatment of restless legs syndrome.

    Science.gov (United States)

    Sales, Samantha; Sanghera, Manjit K; Klocko, David J; Stewart, R Malcolm

    2016-07-01

    Restless legs syndrome (RLS) is a disorder characterized by an irresistible urge to move the legs during rest, usually accompanied by uncomfortable sensations in the affected extremity or extremities. RLS can manifest at any age but prevalence increases with advancing age. This article describes the symptoms of RLS, associated comorbidities, and how to diagnose and manage RLS.

  7. Acute Cerebrovascular Radiation Syndrome: Radiation Neurotoxicity , mechanisms of CNS radiation injury, advanced countermeasures for Radiation Protection of Central Nervous System.

    Science.gov (United States)

    Popov, Dmitri; Jones, Jeffrey; Maliev, Slava

    Key words: Cerebrovascular Acute Radiation Syndrome (Cv ARS), Radiation Neurotoxins (RNT), Neurotransmitters, Radiation Countermeasures, Antiradiation Vaccine (ArV), Antiradiation Blocking Antibodies, Antiradiation Antidote. Psychoneuroimmunology, Neurotoxicity. ABSTRACT: To review the role of Radiation Neurotoxins in triggering, developing of radiation induced central nervous system injury. Radiation Neurotoxins - rapidly acting blood toxic lethal agent, which activated after irradiation and concentrated, circulated in interstitial fluid, lymph, blood with interactions with cell membranes, receptors and cell compartments. Radiation Neurotoxins - biological molecules with high enzymatic activity and/or specific lipids and activated or modified after irradiation. The Radiation Neurotoxins induce increased permeability of blood vessels, disruption of the blood-brain barrier, blood-cerebrospinal fluid (CSF) barrier and developing severe disorder of blood macro- and micro-circulation. Principles of Radiation Psychoneuro-immunology and Psychoneuro-allergology were applied for determination of pathological processes developed after irradiation or selective administration of Radiation Neurotoxins to radiation naïve mammals. Effects of radiation and exposure to radiation can develop severe irreversible abnormalities of Central Nervous System, brain structures and functions. Antiradiation Vaccine - most effective, advanced methods of protection, prevention, mitigation and treatment and was used for of Acute Radiation Syndromes and elaboration of new technology for immune-prophylaxis and immune-protection against ϒ, Heavy Ion, Neutron irradiation. Results of experiments suggested that blocking, antitoxic, antiradiation antibodies can significantly reduce toxicity of Radiation Toxins. New advanced technology include active immune-prophylaxis with Antiradiation Vaccine and Antiradiation therapy that included specific blocking antibodies to Radiation Neurotoxins

  8. Challenges With the Diagnosis and Treatment of Cerebral Radiation Necrosis

    Energy Technology Data Exchange (ETDEWEB)

    Chao, Samuel T., E-mail: chaos@ccf.org [Department of Radiation Oncology, Cleveland Clinic, Cleveland, Ohio (United States); Rose Ella Burkhardt Brain Tumor and Neuro-oncology Center, Cleveland Clinic, Cleveland, Ohio (United States); Ahluwalia, Manmeet S. [Department of Medical Oncology, Cleveland Clinic, Cleveland, Ohio (United States); Rose Ella Burkhardt Brain Tumor and Neuro-oncology Center, Cleveland Clinic, Cleveland, Ohio (United States); Barnett, Gene H. [Department of Neurosurgery, Cleveland Clinic, Cleveland, Ohio (United States); Rose Ella Burkhardt Brain Tumor and Neuro-oncology Center, Cleveland Clinic, Cleveland, Ohio (United States); Stevens, Glen H.J. [Department of Neurology, Cleveland Clinic, Cleveland, Ohio (United States); Rose Ella Burkhardt Brain Tumor and Neuro-oncology Center, Cleveland Clinic, Cleveland, Ohio (United States); Murphy, Erin S. [Department of Radiation Oncology, Cleveland Clinic, Cleveland, Ohio (United States); Rose Ella Burkhardt Brain Tumor and Neuro-oncology Center, Cleveland Clinic, Cleveland, Ohio (United States); Stockham, Abigail L. [Department of Radiation Oncology, Cleveland Clinic, Cleveland, Ohio (United States); Shiue, Kevin [Case Western Reserve University School of Medicine, Cleveland, Ohio (United States); Suh, John H. [Department of Radiation Oncology, Cleveland Clinic, Cleveland, Ohio (United States); Rose Ella Burkhardt Brain Tumor and Neuro-oncology Center, Cleveland Clinic, Cleveland, Ohio (United States)

    2013-11-01

    The incidence of radiation necrosis has increased secondary to greater use of combined modality therapy for brain tumors and stereotactic radiosurgery. Given that its characteristics on standard imaging are no different that tumor recurrence, it is difficult to diagnose without use of more sophisticated imaging and nuclear medicine scans, although the accuracy of such scans is controversial. Historically, treatment had been limited to steroids, hyperbaric oxygen, anticoagulants, and surgical resection. A recent prospective randomized study has confirmed the efficacy of bevacizumab in treating radiation necrosis. Novel therapies include using focused interstitial laser thermal therapy. This article will review the diagnosis and treatment of radiation necrosis.

  9. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    Science.gov (United States)

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  10. Acute Compartment Syndrome in Orthopedics: Causes, Diagnosis, and Management

    Science.gov (United States)

    Raza, Hasnain; Mahapatra, Anant

    2015-01-01

    Almost all orthopaedic surgeons come across acute compartment syndrome (ACS) in their clinical practice. Diagnosis of ACS mostly relies on clinical findings. If the diagnosis is missed and left untreated, it can lead to serious consequences which can endanger limb and life of the patient and also risk the clinician to face lawsuits. This review article highlights the characteristic features of ACS which will help an orthopaedic surgeon to understand the pathophysiology, natural history, high risk patients, diagnosis, and surgical management of the condition. PMID:25688303

  11. Diagnosis of Restless Leg Syndrome (Willis-Ekbom Disease).

    Science.gov (United States)

    Becker, Philip M

    2015-09-01

    Restless leg syndrome, or Willis-Ekbom disease, is a neurosensorimotor disorder with significant impact that is diagnosed through 5 clinical criteria. Adherence to 5 criteria and a thorough physical examination are often sufficient for diagnosis. Associated features prove helpful in young children or the cognitively impaired. Polysomnography is not routinely required unless the patient has other sleep-related symptoms. The finding of periodic leg movements in sleep only suggests, instead of confirms, the diagnosis. It is important to arrive at appropriate diagnosis because the prevalence is in the millions and treatment significantly improves sleep quality and daytime function. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Diagnosis of the syndrome of inappropriate secretion of antidiuretic hormone

    DEFF Research Database (Denmark)

    Holm, Ellen Astrid; Bie, Peter; Ottesen, Michael;

    2009-01-01

    BACKGROUND: Hyponatremia is a frequent condition in elderly patients. In diagnostic workup, a 24-hour urine sample is used to measure urinary osmolality and urinary sodium concentration necessary to confirm the diagnosis of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH...

  13. Diagnosis and X-ray results of Goodpasture syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kulke, H.; Heidbreder, E.; Schmidt, M.; Strohm, D.

    1986-12-01

    Typical diagnostic findings of Goodpasture syndrome are described. A significant aspect of this description are radiological findings of the chest X-ray. The variety of typical pulmonary changes, with respect to their form and localization, are described, and the differential diagnosis of the disease is presented.

  14. Diagnosis of Irritable Bowel Syndrome: Role of Potential Biomarkers

    Directory of Open Access Journals (Sweden)

    Ivana Plavšić

    2015-01-01

    Full Text Available Irritable bowel syndrome is a disorder diagnosed on symptom-based criteria without inclusion of any objective parameter measurable by known diagnostic methods. Heterogeneity of the disorder and overlapping with more serious organic diseases increase uncertainty for the physician’s work and increase the cost of confirming the diagnosis. This paper is an attempt to summarize the efforts to find adequate biomarkers for irritable bowel syndrome, which should shorten the time to diagnosis and reduce the cost. Most of the reviewed papers were observational studies from secondary care institutions. Since publication of the Rome III criteria in 2006, most recent studies use these for the recruitment of IBS patients. This is a positive step forward as future studies should use the same criteria, facilitating comparison of their results. Among the studied biomarkers, most evidence is provided for fecal calprotectin. Cutoff values for fecal calprotectin have still to be investigated prior to inclusion in the irritable bowel syndrome diagnostic algorithm.

  15. Diagnosis and treatment of SAPHO syndrome: A case report.

    Science.gov (United States)

    Song, Xinghua; Sun, Wenwen; Meng, Zhaowei; Gong, Lu; Tan, Jian; Jia, Qiang; Yu, Chunshui; Yu, Tielian

    2014-08-01

    The present study reports a rare case of synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome in an adult male. The 42-year-old man complained of skin lesions, chest pain and lumbago. Laboratory evaluations demonstrated an elevated erythrocyte sedimentation rate and increased levels of C-reactive protein. Computerized tomography, bone scintigraphy and magnetic resonance imaging revealed multiple bone lesions. A diagnosis of SAPHO syndrome was made. Non-steroidal anti-inflammatory drugs, alendronate sodium and steroids were administered, which resulted in clinical improvement. The current case study demonstrates that skin manifestation and multiple imaging modalities are important in generating a definite diagnosis of SAPHO syndrome, and that early treatment is vital for a positive outcome.

  16. Obstructive sleep apnea syndrome: diagnosis and management.

    Science.gov (United States)

    Goodday, R H; Percious, D S; Morrison, A D; Robertson, C G

    2001-12-01

    Increased awareness that changes in sleeping habits and daytime behaviour may be attributable to obstructive sleep apnea syndrome (OSAS) has led many patients to seek both information and definitive treatment. The purpose of this article is to provide information to dentists that will enable them to identify patients who may have OSAS and to assist these patients in making informed decisions regarding treatment options. In patients who have identifiable anatomic abnormalities of the maxilla and mandible resulting in a narrow pharyngeal airway, orthognathic surgery appears to be an excellent treatment option.

  17. Organophosphate poisoning: Diagnosis of intermediate syndrome

    Directory of Open Access Journals (Sweden)

    Poojara L

    2003-01-01

    Full Text Available Organophosphate compound (OPC poisoning with suicidal intent is common in Indian ICUs. The effect of OPCs is to produce a persistent depolarization of the neuromuscular junction leading to muscle weakness. After initial recovery from cholinergic crisis, some patients have resurgence of respiratory muscle paralysis requiring continued ventilatory support. This is termed intermediate syndrome (IMS. This could be due to a change in the type of neuromuscular block to a non depolarisation block characterized by a fade on tetanic stimulation. However peripheral nerve stimulation using train-of-four ratio (TOF and/tetanus have failed to consistently show such a change. We elected to study whether electro physiological monitoring using repetitive nerve stimulation might show a decremental response during IMS. Material & Methods: This was a prospective blinded study done from April 2002 to March 2003 in our ICU. 45 consecutive patients of OPC poisoning admitted during this period were included in this study. Repetitive nerve stimulation (RNS using a train of ten at 3Hz 10Hz and 30Hz (slow , intermediate and fast speeds respectively at the median nerve was done on all patients on day 1, 4, 7 and every 4th day thereafter until discharge. Patients were ventilated until ready to wean as per our usual protocol. The results of the RNS study were not revealed to the intensivist. Results: 9 out of 45 patients required ventilation for more than 6 days and showed overt signs of intermediate syndrome - proximal muscle weakness, twitching and respiratory weakness. Only 2 patients out of the 9 had a decremental response on RNS at 3Hz indicating a post-junctional dysfunction at the motor end-plate, Both patients had consumed a very large quantity of OPC and were deeply comatose for >4 days and required ventilation for >12 days. All other patients with IMS showed no changes on RNS. The exact type of poison consumed varied with each individual patient. Conclusion: RNS

  18. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  19. Hepatorenal Syndrome: Diagnosis and Treatment – newsreel –

    Directory of Open Access Journals (Sweden)

    Enescu Aurelia

    2016-09-01

    Full Text Available Hepatorenal syndrome (HRS is defined as renal failure that occurs in the presence of severe acute or chronic liver disease in the absence of underlying renal pathology. Due to the functional nature of the disease and the absence of specific diagnostic markers, HRS diagnosis is determined based on positive criteria associated with excluding other causes of renal failure in patients with liver cirrhosis and ascites. Differentiation from other types of acute or chronic renal disease is extremely difficult and therapeutic options are limited, prophylactic behavior is most appropriate in patients with severe hepatic disease and risk factors for the installation of hepatorenal syndrome.

  20. [Differential diagnosis of essential adiposity and Cushings syndrome].

    Science.gov (United States)

    Kubel, M; Schwerdtner, U

    1975-04-01

    On account of the increasing number of patients with essential obesity the delimitation of the Cushing-syndrome is of actual importance. Two observations of hypercortisolism in hyperplasia of the adrenal glands are reported on and the differential-diagnostically important parameters are demonstrated. According to our opinion anamnesis and clinical findings give the possibility of making a diagnosis already on a large scale. Analyses of the hormones and special X-ray examinations only serve for the preoperative ascertainment and localisation of the endocrine defective function. With the help of literary data causes and possibilities of treatment of Cushing's syndrome are entered.

  1. THE DIAGNOSIS AND TREATMENT OF PANDAS SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    V. I. Kharitonov

    2014-01-01

    Full Text Available This paper describes a case of PANDAS in a 12-year-old girl. The unusual clinical manifestations and course of the disease as long-term sneezing attacks make the diagnosis of the syndrome difficult. Long-term video-assisted electroencephalographic monitoring, brain magnetic resonance imaging, and blood biochemical tests could define the nature of the condition. Antibiotic therapy and intravenous immunoglobulin could achieve remission. Further investigations are needed to evaluate the efficacy of antibiotics and intravenous immunoglobulin in this syndrome.

  2. Diagnosis and classification of the antiphospholipid syndrome.

    Science.gov (United States)

    Gómez-Puerta, Jose A; Cervera, Ricard

    2014-01-01

    The antiphospholipid syndrome (APS) is defined by the occurrence of venous and arterial thromboses, often multiple, and recurrent fetal losses, frequently accompanied by a moderate thrombocytopenia, in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. The original classification criteria for the APS were formulated at a workshop in Sapporo, Japan, in 1998, during the 8th International Congress on aPL. The Sapporo criteria, as they are often called, were revised at another workshop in Sydney, Australia, in 2004, during the 11th International Congress on aPL. At least one clinical (vascular thrombosis or pregnancy morbidity) and one laboratory (anticardiolipin antibodies, lupus anticoagulant or anti-β2-glycoprotein I antibodies) criterion had to be met for the classification of APS. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Comparison of syndromic diagnosis of reproductive tract infections with laboratory diagnosis among rural married women in Medak district, Andhra Pradesh

    Directory of Open Access Journals (Sweden)

    M. L.S. Prabha

    2012-01-01

    Full Text Available Introduction: In developing countries, reproductive tract infections (RTI commonly affect the quality of life. Many reproductive tract infections including sexually transmitted infections (STI and cervical cancers remain asymptomatic for long periods. Syndromic case management (SCM is the mainstay in the control of RTI/STI, especially at primary level, where laboratory diagnosis is not possible. However, lab diagnosis should be used when it is available. Objective: To assess the consistency of syndromic diagnosis with laboratory diagnosis. Materials and Methods: A total of 407 women were screened. Women were categorized according to Syndromic Diagnosis of RTI/STI based on history and clinical examination. Microbiological tests and Pap smears were done to confirm the diagnosis and compared with Syndromic Diagnosis. Results: Microbiologically, 33.14% were positive for at least one organism. Bacterial vaginosis was the most common finding (14%. Pap smear showed 32.9% inflammatory changes and 0.25% low-grade squamous intraepithelial lesion. Sensitivity and specificity of syndromic diagnosis with laboratory findings: Vaginal discharge syndrome with microbiological tests- (Se 58.9; Sp55.1% Lower abdominal pain syndrome with microbiological tests-(Se 14.4%; Sp76.6% Conclusion: The findings of this study highlight the wide variation of syndromic and laboratory diagnosis.

  4. Antiradiation Vaccine: Immunological neutralization of Radiation Toxins at Acute Radiation Syndromes.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Introduction: Current medical management of the Acute Radiation Syndromes (ARS) does not include immune prophylaxis based on the Antiradiation Vaccine. Existing principles for the treatment of acute radiation syndromes are based on the replacement and supportive therapy. Haemotopoietic cell transplantation is recomended as an important method of treatment of a Haemopoietic form of the ARS. Though in the different hospitals and institutions, 31 pa-tients with a haemopoietic form have previously undergone transplantation with stem cells, in all cases(100%) the transplantants were rejected. Lethality rate was 87%.(N.Daniak et al. 2005). A large amount of biological substances or antigens isolated from bacterias (flagellin and derivates), plants, different types of venom (honeybees, scorpions, snakes) have been studied. This biological active substances can produce a nonspecific stimulation of immune system of mammals and protect against of mild doses of irradiation. But their radioprotection efficacy against high doses of radiation were not sufficient. Relative radioprotection characteristics or adaptive properties of antioxidants were expressed only at mild doses of radiation. However antioxidants demonstrated a very low protective efficacy at high doses of radiation. Some ex-periments demonstrated even a harmful effect of antioxidants administered to animals that had severe forms of the ARS. Only Specific Radiation Toxins roused a specific antigenic stim-ulation of antibody synthesis. An active immunization by non-toxic doses of radiation toxins includes a complex of radiation toxins that we call the Specific Radiation Determinant (SRD). Immunization must be provided not less than 24 days before irradiation and it is effective up to three years and more. Active immunization by radiation toxins significantly reduces the mortality rate (100%) and improves survival rate up to 60% compare with the 0% sur-vival rate among the irradiated animals in control groups

  5. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

    2005-10-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

  6. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Perez-Carbajo

    2015-01-01

    Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

  7. Equine gastric ulcer syndrome (egus: diagnosis and therapy

    Directory of Open Access Journals (Sweden)

    Mot, T.,

    2008-06-01

    Full Text Available Equine gastric ulcer syndrome is especially reported in racing horses, with a prevalence of 60-90% in adults and 25-50% in foals. The ethiology of equine gastric ulcer is polifactorial, represented by nutritional factors, stress generated by training and captivity, drugs (corticosteroids-prednisolone, dexametasone, nesteroidicanti-inflammatory drugs: flumixin-meglumine, fenilbutazone, duodenal refluence. The diagnosis is established on clinical signs and therapeutic response and it is confirmed by endoscopic exam. Therapeutically it is recommended to administer: antiacide (aluminiu hydroxide, magnesium hydroxide, inhibitors of H2 receptors(cimetidine, ranitidine, famotidine, inhibitors of protons pump (Omeprazol, Sucralphate. Diagnosis and therapeutic aspects in equine gastric ulcer syndrome are presented in this study.

  8. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

    Science.gov (United States)

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

  9. Diagnosis of Zollinger-Ellison syndrome: Increasingly difficult

    Institute of Scientific and Technical Information of China (English)

    Tetsuhide Ito; Guillaume Cadiot; Robert T Jensen

    2012-01-01

    In the present paper the increasing difficulty of diagnosis of Zollinger-Ellison syndrome (ZES) due to issues raised in two recent papers is discussed.These issues involve the difficulty and need to withdraw patients suspected of ZES from treatment with Proton Pump Inhibitors (omeprazole,esomeprazole,lansoprazole,rabeprazole,pantoprazole) and the unreliability of many gastrin radioimmunoassays.The clinical context of each of these important issues is reviewed and the conclusions in these articles commented from the perspective of clinical management.

  10. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    OpenAIRE

    Sirmans SM; Pate KA

    2013-01-01

    Susan M Sirmans, Kristen A PateDepartment of Clinical and Administrative Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA, USAAbstract: Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and...

  11. Diagnosis and management of Silver-Russell syndrome

    DEFF Research Database (Denmark)

    Wakeling, Emma L; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi

    2017-01-01

    This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born...... and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body...

  12. Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

    Science.gov (United States)

    Halley, D; Heukels-Dully, M J

    1977-01-01

    Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome. Images PMID:856956

  13. [Malignant neuroleptic syndrome--a possibility for early diagnosis].

    Science.gov (United States)

    Rasmussen, K T; Scherling, A

    1991-10-21

    A 17-year-old man developed the malignant neuroleptic syndrome and recovered after the neuroleptic drug was discontinued. When the treatment with the neuroleptic was resumed four weeks later, an elevated serum creatine kinase level was found without any other symptoms of the malignant neuroleptic syndrome. The neuroleptic was discontinued and the serum creatine kinase level was normalized. In both episodes, serum creatine kinase level was followed daily. The elimination of creatine kinase followed a first order kinetic, indicating that release of the enzyme to the blood stopped as soon the neuroleptic was discontinued. In the second episode, the increase in serum creatine kinase level was found before the symptoms of malignant neuroleptic syndrome appeared. This opens a possible way to early diagnosis and in that way prevention of severe symptoms.

  14. [Genetic and clinical diagnosis of Angelman syndrome. Case Reviews].

    Science.gov (United States)

    García Ramírez, M; Csanyi, B; Martínez Antón, J; Delgado Marqués, M; Bauzano Poley, E

    2008-09-01

    Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene. There is a percentage of cases which satisfy these clinical features but have negative genetic testing. We consider it necessary to analyse the patient characteristics and possible phenotype-genotype correlations. All cases which were treated between 1981 and 2007 in a neurology unit and fulfilled the clinical criteria were included. Genetic diagnosis was made by methylation testing and fluorescent in situ hybridization. Thirteen patients were studied, nine with positive genetic testing and four with negative testing who completed the clinical criteria. The average age at diagnosis was 37 months. Eleven cases showed acquired microcephaly. Flat occiput, mouth and maxillary malformations, hypopigmentation, a happy appearance and hyperactivity were practically constant characteristics. Speech and walking ability were the areas which showed most deficit. Twelve cases had epilepsy. Three of the cases with normal genetic testing showed less microcephaly and better psychomotor development, particularly in walking ability. The phenotypical characteristics of the syndrome should be known before requesting specific genetic testing and to make a diagnosis even in cases with negative genetic. The phenotype characteristics that describe Angelman syndrome were verified. Deletion cases had a worse outcome.

  15. Diagnosis and management of acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Baker Hamilton

    2013-09-01

    La prévalence des maladies cardiovasculaires connaît une croissance rapide dans les pays en développement, entraînant une incidence croissante du syndrome coronarien aigu (SCA. Les modalités de diagnostic et de traitement de cette maladie continuent d’évoluer, et il convient de tenir compte des ressources locales lors de la réalisation d’un diagnostic et la détermination des options thérapeutiques. Cet article constitue un guide à la prise en charge du SCA fondé sur l’expérience, et fournit des recommandations spécifiques destinées aux médecins hospitaliers travaillant dans les pays à bas et moyen revenu. Le diagnostic du SCA, y compris les SCA sans élévation du ST et avec élévation du ST, se concentre sur la stratification du risque, la vigilance relative aux manifestations subtiles ou atypiques, et la prise en considération d’autres causes des douleurs poitrinaires. Le processus de diagnostic implique l’évaluation des facteurs de risque, la connaissance des antécédents médicaux défavorables et les conclusions de l’examen physique (des variantes étant susceptibles d’exister dans les différentes populations, ainsi que l’utilisation de tests de diagnostic appropriés. Il est recommandé d’utiliser de l’aspirine à titre de traitement initial, parallèlement à un antiagrégant plaquettaire supplémentaire. Le prasugrel est préféré au clopidogrel si le patient présente un SCA avec élévation du ST et qu’une intervention coronaire percutanée (ICP est prévue. La bivalidurine devrait être le premier choix pour éviter la coagulation dans les SCA avec élévation du ST, suivie de l’enoxaparine (qui ne nécessite pas de perfusion, puis d’héparine non fractionnée. Pour les patients présentant un SCA sans élévation du ST et en cas de risque de saignement accru, le fondaparinux devrait être envisagé à la place de l’énoxaparine. Les patients souffrant de dyspnée, présentant des signes d

  16. Twin-twin transfusion syndrome - diagnosis and prognosis

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    Hajrić-Egić Amira

    2003-01-01

    Full Text Available Twin-twin transfusion syndrome is a serious complication of monozygotic, monochorionic, diamniotic twins resulting from transplacental vascular communications. In this syndrome blood is thought to be shunted from one twin - donor,who develops anaemia,growth retardation and oligoamnios, to the other twin - recipient,who becomes plethoric,macrosomic and develops polyhydroamnios. The incidence of twin-twin transfusion syndrome ranges from 5-15% of all twin pregnancies. If this condition develops in the second trimester, it is usually associated with spontaneous abortion and death of one or both fetuses before viability. Developing the syndrome in the third trimester has better perinatal outcome. Mortality rates ranging from 56%-100%, depending on gestational age and severity of the syndrome. The ultrasound criterias for diagnosis, in this study,were the presence of twins of the same sex with discordant growth, with oligohydroamnios in one twin sac and polyhydroamnios in the other one, one placenta and thin membrane between twins. The present study shows clinical course of 14 cases and value of Doppler ultrasound to analyze the usefulness of umbilical artery blood flow velocimetry for predicting the risk of twin-twin transfusion syndrome. 14 twin pregnancies with twin-twin transfusion syndrome were diagnosed during the last four years period and prospectivelly followed. 9 cases were diagnosed before the completion od 28 weeks of gestation.The mean gestational age was 21,6_+4,2 weeks at diagnosis and 23,2+_3,6 weeks at delivery. 5 cases were diagnosed after 28 weeks of gestation. The mean gestational age in this group was 29,6+_2,1 weeks at diagnosis and 33+_3,3 weeks at delivery. The survival rate in this study was 29%(8/28.9 cases ended in spontaneous abortion between 18th and 27th weeks of pregnancy (table 1 and 5 in premature labor (table 2.There were 7 intrauterine death (5 at admission and 2 few days after admission and 13 neonatal deaths

  17. Diagnosis, comorbidities, and management of restless legs syndrome.

    Science.gov (United States)

    Becker, Philip M; Novak, Marta

    2014-08-01

    This narrative review describes the differential diagnosis of restless legs syndrome, and provides an overview of the evidence for the associations between RLS and potential comorbidities. Secondary causes of RLS and the characteristics of pediatric RLS are also discussed. Finally, management strategies for RLS are summarized. The review began with a comprehensive PubMed search for 'restless legs syndrome/Willis-Ekbom disease' in combination with the following: anxiety, arthritis, attention-deficit hyperactivity disorder, cardiac, cardiovascular disease, comorbidities, depression, end-stage renal disease, erectile dysfunction, fibromyalgia, insomnia, kidney disease, liver disease, migraine, mood disorder, multiple sclerosis, narcolepsy, neuropathy, obesity, pain, Parkinson's disease, polyneuropathy, pregnancy, psychiatric disorder, sleep disorder, somatoform pain disorder, and uremia. Additional papers were identified by reviewing the reference lists of retrieved publications. Although clinical diagnosis of RLS can be straightforward, diagnostic challenges may arise when patients present with comorbid conditions. Comorbidities of RLS include insomnia, depressive and anxiety disorders, and pain disorders. Differential diagnosis is particularly important, as some of the medications used to treat insomnia and depression may exacerbate RLS symptoms. Appropriate diagnosis and management of RLS symptoms may benefit patient well-being and, in some cases, may lessen comorbid disease burden. Therefore, it is important that physicians are aware of the presence of RLS when treating patients with conditions that commonly co-occur with the disorder.

  18. Pathophysiology, diagnosis and management of postoperative dumping syndrome.

    Science.gov (United States)

    Tack, Jan; Arts, Joris; Caenepeel, Philip; De Wulf, Dominiek; Bisschops, Raf

    2009-10-01

    Dumping syndrome is a frequent complication of esophageal, gastric or bariatric surgery. Rapid gastric emptying, with the delivery to the small intestine of a significant proportion of solid food as large particles that are difficult to digest, is a key event in the pathogenesis of this syndrome. This occurrence causes a shift of fluid from the intravascular component to the intestinal lumen, which results in cardiovascular symptoms, release of several gastrointestinal and pancreatic hormones and late postprandial hypoglycemia. Early dumping symptoms comprise both gastrointestinal and vasomotor symptoms. Late dumping symptoms are the result of reactive hypoglycemia. Besides the assessment of clinical alertness and endoscopic or radiological imaging, a modified oral glucose tolerance test might help to establish a diagnosis. The first step in treating dumping syndrome is the introduction of dietary measures. Acarbose can be added to these measures for patients with hypoglycemia, whereas several studies advocate guar gum or pectin to slow gastric emptying. Somatostatin analogs are the most effective medical therapy for dumping syndrome, and a slow-release preparation is the treatment of choice. In patients with treatment-refractory dumping syndrome, surgical reintervention or continuous enteral feeding can be considered, but the outcomes of such approaches are variable.

  19. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  20. The Pathophysiology, Diagnosis and Current Management of Acute Compartment Syndrome

    Science.gov (United States)

    Donaldson, James; Haddad, Behrooz; Khan, Wasim S

    2014-01-01

    Acute compartment syndrome (ACS) is a surgical emergency warranting prompt evaluation and treatment. It can occur with any elevation in interstitial pressure in a closed osseo-fascial compartment. Resultant ischaemic damage may be irreversible within six hours and can result in long-term morbidity and even death. The diagnosis is largely clinical with the classical description of ‘pain out of proportion to the injury’. Compartment pressure monitors can be a helpful adjunct where the diagnosis is in doubt. Initial treatment is with the removal of any constricting dressings or casts, avoiding hypotension and optimizing tissue perfusion by keeping the limb at heart level. If symptoms persist, definitive treatment is necessary with timely surgical decompression of all the involved compartments. This article reviews the pathophysiology, diagnosis and current management of ACS. PMID:25067973

  1. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

    Science.gov (United States)

    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  2. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  3. Diagnosis of clear sky ultraviolet radiation for Mexico

    Energy Technology Data Exchange (ETDEWEB)

    Lemus Deschamps, L. [Bureau of Meteorology Research Centre (Australia); Galindo, I.; Solano, R.; Elizalde, A.T.; Fonseca, J. [Centro Universitario de Investigaciones en Ciencias del Ambiente, University of Colima (Mexico)

    2002-07-01

    A discrete-ordinate radiative transfer model is employed to develop a regional clear sky ultraviolet (UV) diagnosis system. The clear sky UV radiation, weighted by the spectral sensitivity of human skin is calculated using the Total Ozone Mapping Spectrometer (TOMS) data sets. Examples of the geographical clear sky UV Index distributions are presented and the model results are compared with surface UV measurements from University of Colima for 1999. [Spanish] Utilizando un modelo de transferencia de radiacion de ordenadas discretas se desarrolla un sistema para el diagnostico de la distribucion de radiacion ultravioleta para cielo despejado en la Republica Mexicana. La radiacion para cielo despejado se obtiene utilizando la respuesta espectral de la piel humana y los datos de satelite de ozono total registrados por el espectrometro TOMS. Se presentan ejemplos del Indice de radiacion ultravioleta (UV Index) calculados con el modelo y se comparan con las mediciones en superficie obtenidas en la Universidad de Colima durante 1999.

  4. Somatostatinoma syndrome: a challenging differential diagnosis among pancreatic tumors

    Directory of Open Access Journals (Sweden)

    Paula Martinez Vianna

    2013-03-01

    Full Text Available Among the neuroendocrine neoplasia, the pancreatic somatostatin-producing tumors are very rare. Usually functional, these tumors produce the somatostatinoma syndrome, which encompasses diabetes mellitus, diarrhea/steatorrhoea, and cholelithiasis. Other symptoms may include dyspepsia, weight loss, anemia, and hypochlorhydria. All theses symptoms are explained by the inhibitory actions of the somatostatin released by tumoral cells originated from pancreatic delta cells or endocrine cells of the digestive tract. The diagnosis is easy to overlook since these symptoms are commonly observed in other more common syndromes. Besides the clinical features, diagnosis is based on serum determination of somatostatin, and imaging exams, such as ultrasound, computer tomography and positron emission tomography. Pathologic examination is characterized by the positivity of immunohistochemical reaction for synaptophysin, chromogranin, and somatostatin. These tumors can be classified according to tumor size, mitotic index, neural or vascular invasion, and distant metastases. The authors describe the case of a 61-year-old female patient who sought medical care because of a 6-month history of watery diarrhea, weight loss, and depression. She was diagnosed with diabetes mellitus 3 years ago. Imaging examination revealed a tumoral mass of 4 cm in its longest axis in the topography of the head of the pancreas and calculous cholecistopathy. The patient’s clinical status was unfavorable for a surgical approach. She died after 20 days of hospitalization. The definitive diagnosis was achieved with the autopsy findings, which disclosed a pancreatic somatostatinoma.

  5. Budd-Chiari syndrome: Etiology, pathogenesis and diagnosis

    Science.gov (United States)

    Aydinli, Musa; Bayraktar, Yusuf

    2007-01-01

    Budd-Chiari syndrome is a congestive hepatopathy caused by blockage of hepatic veins. This syndrome occurs in 1/100 000 in the general population. Hypercoagulable state could be identified in 75% of the patients; more than one etiologic factor may play a role in 25% of the patients. Primary myeloproliferative diseases are the leading cause of the disease. Two of the hepatic veins must be blocked for clinically evident disease. Liver congestion and hypoxic damage of hepatocytes eventually result in predominantly centrilobular fibrosis. Doppler ultrasonography of the liver should be the initial diagnostic procedure. Hepatic venography is the reference procedure if required. Additionally liver biopsy may be helpful for differential diagnosis. The prognosis of the chronic form is acceptable compared to other chronic liver diseases. PMID:17569137

  6. Budd-Chiari syndrome: Etiology, pathogenesis and diagnosis

    Institute of Scientific and Technical Information of China (English)

    Musa Aydinli; Yusuf Bayraktar

    2007-01-01

    Budd-Chiari syndrome is a congestive hepatopathy caused by blockage of hepatic veins. This syndrome occurs in 1/100000 in the general population. Hypercoagulable state could be identified in 75% of the patients; more than one etiologic factor may play a role in 25% of the patients. Primary myeloproliferative diseases are the leading cause of the disease. Two of the hepatic veins must be blocked for clinically evident disease. Liver congestion and hypoxic damage of hepatocytes eventually result in predominantly centrilobular fibrosis. Doppler ultrasonography of the liver should be the initial diagnostic procedure. Hepatic venography is the reference procedure if required. Additionally liver biopsy may be helpful for differential diagnosis. The prognosis of the chronic form is acceptable compared to other chronic liver diseases.

  7. Gorlin-Goltz Syndrome: Diagnosis and Treatment Options

    Directory of Open Access Journals (Sweden)

    João Mendes-Abreu

    2017-05-01

    Full Text Available The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients.

  8. Exploring the Diagnosis and Management of Bouveret's Syndrome

    Directory of Open Access Journals (Sweden)

    Mukul Bhattarai

    2016-03-01

    Full Text Available Bouveret’s syndrome is an unusual cause of gastric outlet obstruction secondary to gallstone impaction. It is so rare that it is commonly missed in clinical practice if it is not considered in differential diagnoses of intestinal obstruction more specifically in man who does not report the history of gall stone. Furthermore, there are no definitive guidelines on approach and management of this condition. We present a seventy eight year old man who developed acute abdominal symptoms due to impaction of a gallstone in the duodenum. He did not have history of gall stone. The diagnosis was supported via CT abdomen and Endoscopy. The patient was successfully managed by exploratory laparotomy followed by anterior pylorotomy to remove the stone without cholecystectomy and fistula repair. Keywords: Bouveret’s syndrome; cholelithiasis; enterolithotomy; Gallstone ileus. | PubMed

  9. Еctopic ACTH syndrome: clinical picture, diagnosis, treatment

    Directory of Open Access Journals (Sweden)

    N S Kuznetsov

    2012-03-01

    Full Text Available Diagnosis and treatment of ectopic ACTH-syndrome currently is one of the most challenging problems among other forms of endogenous hypercorticism. This syndrome is associated with presence of extrapituitary tumors characterized with different histogenesis and localization, which produce adrenocorticotropic hormone (ACTH, or – rarely – corticotrophin-releasing hormone. In most cases the ectopic synthesis of ACTH is performed in bronchial carcinoid tumors (36–46%, oat cell cancer (18–20%, medullary thyroid cancer (3–7%, pheochromocytoma (9–23%, other sites are infrequent (pancreas, thymus, parotid gland, ovaries, uterus, prostate, colon, stomach, esophagus, etc.. Much of these tumors are aggressive and are characterized with propensity to metastasize and relapse. Currently there are few contradictory data on the comparative evaluation of the effectiveness of methods of topical diagnosis of the source of ectopic ACTH-secretion, and therefore there is an urgent need to develop an optimal and most efficient algorithm for diagnostic procedures to determine the extent of the tumor in patients with ectopic ACTH-syndrome. Indications for surgery, timing and extent of surgical intervention, the effectiveness of the operation, the causes and frequency of relapses are still discussed.The present difficulties of diagnosis, as well as the lack of a unified approach to the treatment of this disease in the complex, often lead to the progression and development of a large number of serious complications functions of up to disability, which in turn does not lead to significant improvement of quality of life. Thus further research is necessary to study of this disease

  10. Syndromic Diagnosis in Evaluation of Women with Symptoms of Vaginitis.

    Science.gov (United States)

    Nwankwo, Theophilus Ogochukwu; Aniebue, Uzochukwu Uzoma; Umeh, Uchenna Anthony

    2017-01-01

    This review aims to determine the effectiveness of the use of syndrome diagnosis in the evaluation of vaginitis and to make suggestions based on the review findings. Vaginal discharge as the main symptom of vaginitis is unspecific. A randomized study of symptom-based diagnosis and treatment of vaginitis in the USA favored symptoms used for treatment; however, this was only a pilot study. Hence, a population-based study is necessary to validate these findings. Most of the study that assessed treatment of vaginitis in pregnancy reported low diagnostic sensitivity and specificity for bacterial vaginosis and vaginal candidiasis and a wide range for trichomonas vaginalis reflecting ineffectiveness of syndrome-based treatment in pregnancy. A systematic review of the web for relevant literature was made, and appropriate articles were extracted and reviewed. Sensitivity, specificity, and positive values were used, where applicable to determine effectiveness. Forty-three full articles and abstracts were reviewed. Studies that validated or applied WHO algorithm for treatment of vaginitis reported high sensitivity (91.5-100%) but moderate to low specificity (0-27.5%) among women with vaginal symptoms. Studies that focused on symptoms for diagnosis of the three main etiologic agents of vaginitis reported low sensitivity and specificity, while such studies in pregnancy reported sensitivity and specificity ranging from 35.4 to 54% for TV, 11 to 100% for BV, and 0 to 56.2% for trichomonas vaginalis, bacterial vaginosis, and vaginal candidiasis, respectively. Studies that added point of care test reported higher sensitivity and specificity and positive predictive value. The use of WHO syndrome-based algorithm or its modification for treatment of vaginitis though moderately effective has the potential for overtreatment and physician error. Point of care testing and laboratory investigation are essential for productive intervention especially in pregnancy.

  11. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Sirmans SM

    2013-12-01

    Full Text Available Susan M Sirmans, Kristen A PateDepartment of Clinical and Administrative Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA, USAAbstract: Polycystic ovary syndrome (PCOS is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%–70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.Keywords: polycystic ovary syndrome

  12. Diagnosis and Management of Budd Chiari Syndrome: An Update

    Energy Technology Data Exchange (ETDEWEB)

    Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org [Cleveland Clinic, Imaging Institute (United States); Nghiem, Hanh, E-mail: HNghiem@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Kapoor, Baljendra, E-mail: kapoorb@ccf.org [Cleveland Clinic, Imaging Institute (United States)

    2015-02-15

    Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

  13. Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

    Directory of Open Access Journals (Sweden)

    Subramaniyan Ramanathan

    2015-01-01

    Full Text Available Gorlin syndrome (GS is a rare inherited multisystem disorder with predisposition to basal cell carcinomas and various other neoplasms. Characteristic features include falx calcification, multiple odontogenic keratocysts (OKCs, early onset medulloblastoma, craniofacial and skeletal malformations, cardiac and ovarian fibroma. We present a case of GS in a 9-year-old girl with recurrent dental infections which was overlooked for 8 years. Diagnosis was finally suggested by the incidental detection of multiple OKCs and ovarian fibromas on follow-up magnetic resonance imaging performed for surveillance of previous operated brain tumor.

  14. Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

    Science.gov (United States)

    Ramanathan, Subramaniyan; Kumar, Devendra; Al Heidous, Mahmoud; Palaniappan, Yegu

    2015-01-01

    Gorlin syndrome (GS) is a rare inherited multisystem disorder with predisposition to basal cell carcinomas and various other neoplasms. Characteristic features include falx calcification, multiple odontogenic keratocysts (OKCs), early onset medulloblastoma, craniofacial and skeletal malformations, cardiac and ovarian fibroma. We present a case of GS in a 9-year-old girl with recurrent dental infections which was overlooked for 8 years. Diagnosis was finally suggested by the incidental detection of multiple OKCs and ovarian fibromas on follow-up magnetic resonance imaging performed for surveillance of previous operated brain tumor.

  15. Meckel-Gruber Syndrome: Autopsy Based Approach to Diagnosis

    Directory of Open Access Journals (Sweden)

    Asaranti Kar

    2016-01-01

    Full Text Available Meckel-Gruber syndrome (MGS is a rare lethal congenital malformation affecting 1 in 13,250-140,000 live births. The classical diagnostic triad comprises multicystic dysplastic kidneys, occipital encephalocele, and postaxial polydactyly. It can variably be associated with other malformations such as cleft lip and palate, pulmonary hypoplasia, hepatic fibrosis, and anomalies of central nervous system. A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly, microphthalmia, hypertelorism, cleft lip and palate, neonatal teeth, and the right side club foot which were detected only after doing autopsy. This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death, especially where the antenatal diagnosis has not been made previously. A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.

  16. Restless legs syndrome: demographics, presentation, and differential diagnosis.

    Science.gov (United States)

    Hening, Wayne; Allen, Richard P; Tenzer, Penny; Winkelman, John W

    2007-09-01

    Restless legs syndrome (RLS) is a sensorimotor disorder characterized by a distressing urge to move the legs and sometimes other parts of the body. Diagnosis is based on clinical features that may be easily remembered with the mnemonic URGE: Urge to move, Rest induced, Gets better with activity, and Evening and night accentuation. RLS is common, its prevalence increases with age, and women are more frequently affected. The course is chronic with often severe sleep disruption, including periodic leg movements. Differential diagnosis includes disorders of restlessness and leg discomfort. Primary RLS is familial and likely to be genetic. Important causes of secondary RLS are end-stage renal disease, pregnancy, and iron deficiency. Every patient should be checked for iron status with a serum ferritin measurement.

  17. Anti-mullerian hormon level and polycystic ovarian syndrome diagnosis

    Directory of Open Access Journals (Sweden)

    Shahrzad Zadehmodarres

    2015-03-01

    Full Text Available Background: Polycystic ovarian syndrome (PCOS is a common endocrinopathy that accompanied with long term complications. The early diagnosis of this syndrome can prevent it. Objective: The aim was to determine the role of anti-mullerian hormon (AMH in PCOS diagnosis and to find cut off level of it. Materials and Methods: In this cross sectional study, 117 women between 20-40 years old were participated in two groups: 60 PCOS women (based on Rotterdam criteria consensus as the case group and 57 normal ovulatory women as the control group. In day 2-4 of cycle, transvaginal sonography was performed and serum hormonal level of AMH, luteinizing hormone (LH, follicle stimulating hormone (FSH, estradiol (E2, testosterone, fasting blood sugar (FBS, thyroid stimulating hormone (TSH, and prolactin (PRL were measured in all of participants. For all of them score of hirsutism (base on Freeman-Galloway scoring was determined. Results: There were statistically significant in irregular pattern of menstruation, AMH and FSH level, and presence of hirsutism between two groups. But regarding mean of age, body mass index, plasma level of PRL, TSH, LH, Testosterone, FBS, and E2 differences were not significant. Construction by ROC curve present 3.15 ng/ml as AMH cut off with 70.37% sensitivity and 77.36% specificity in order to PCOS diagnosis. Conclusion: AMH with cut off level of 3.15 ng/ml with sensitivity 70.37% and specificity 77.36% could use for early diagnosis of PCOS patients.

  18. Pertussis-like syndrome or pertussis: a delay diagnosis

    Directory of Open Access Journals (Sweden)

    Heda Melinda Nataprawira

    2012-01-01

    Full Text Available Background Recent reports of pertussis epidemiology from Asia, Africa and South America have been limited, but the World Health Organization estimates indicate that these regions have the highest disease burden. Difficulty in estimating the prevalence of pertussis is due to lack of access to diagnostic methods, misdiagnoses, under-reporting, and different countries’ reporting criteria. A syndrome characterized by severe episodes of coughing resembling whooping cough (pertussis has also been defined as pertussis-like syndrome. Objective To report eleven cases of pertussis or pertussis-like syndrome in the pediatric ward of Hasan Sadikin Hospital. Methods This retrospective study was conducted by reviewing medical records from 2008–2010. Characteristics of 11 pertussis-like syndrome patients were documented including age, gender, history of pertussis immunization, clinical manifestations, laboratory findings, initial diagnosis, treatment and clinical response. Isolation of Bordetella pertussis using Bordet-Gengou agar was also noted. Pertussis diagnoses were grouped based on two classifications: probable and confirmed. Results Eleven patients were diagnosed with pertussis-like syndrome, including 5 boys and 6 girls. Mmost subjects were less than 6 months of age. Only one subject had received previous pertussis immunization. Dyspnea, paroxysmal cough, and fever were the most common symptoms. All were initially diagnosed to have had severe bacterial pneumonia, and later changed to probable pertussis. Three subjects exhibited post-tussive vomiting and cyanosis, while none had apneic symptoms. All B. pertussis isolations yielded negative results. Ampicillin or cephalosporin was initially administered. Patients receiving subsequent clarithromycin showed good clinical responses. Conclusion All infants were likely considered to have pertussis, as most had no pertussis immunizations. However, B. pertussis isolation was unsuccessful in all cases. As

  19. Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

    OpenAIRE

    Tarquinio, DC; W Hou; Neul, JL; Lane, JB; Barnes, KV; O'Leary, HM; Bruck, NM; Kaufmann, WE; Motil, KJ; Glaze, DG; Skinner, SA; Annese, F.; Baggett, L; Barrish, JO; Geerts, SP

    2015-01-01

    © 2015 Elsevier Inc. Purpose Diagnosis of Rett syndrome (RTT) is often delayed. We sought to determine the type of physician who typically makes the RTT diagnosis and to identify risk factors for delayed diagnosis. Methods A total of 1085 participants from the multicenter longitudinal RTT natural history study with classic and atypical RTT were recruited between 2006 and 2014. Age of diagnosis, diagnostician, diagnostic criteria, and clinical and developmental data were collected. Results Amo...

  20. The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline: commentary from a European perspective

    National Research Council Canada - National Science Library

    Laurence Guignat; Jérôme Bertherat

    2010-01-01

    .... Establishment of evidence-based recommendations is difficult. In 2008, several national and international consensus recommendations for the diagnosis or management of Cushing's syndrome were reported...

  1. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the

  2. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the Netherlands

  3. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

    Directory of Open Access Journals (Sweden)

    Daniela Cardoso Pereira

    2013-01-01

    Full Text Available Treacher-Collins syndrome (TCS is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  4. Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

    Science.gov (United States)

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  5. Epidemiology, diagnosis, and management of polycystic ovary syndrome.

    Science.gov (United States)

    Sirmans, Susan M; Pate, Kristen A

    2013-12-18

    Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%-20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%-70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.

  6. Morquio A syndrome: diagnosis and current and future therapies.

    Science.gov (United States)

    Tomatsu, Shunji; Yasuda, Eriko; Patel, Pravin; Ruhnke, Kristen; Shimada, Tsutomu; Mackenzie, William G; Mason, Robert; Thacker, Mihir M; Theroux, Mary; Montaño, Adriana M; Alméciga-Díaz, Carlos J; Barrera, Luis A; Chinen, Yasutsugu; Sly, William S; Rowan, Daniel; Suzuki, Yasuyuki; Orii, Tado

    2014-09-01

    Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced in the cartilage, therefore, the undegraded substrates accumulate mainly in cartilage and in its extracelluar matrix (ECM), causing direct leads to direct impact on cartilage and bone development and leading to the resultant systemic skeletal spondyloepiphyseal dysplasia. Chondrogenesis ,the earliest phase of skeletal formation that leads to cartilage and bone formation is controlled by cellular interactions with the ECM, growth and differentiation factors and other molecules that affect signaling pathways and transcription factors in a temporal-spatial manner. In Morquio A patients, in early childhood or even at birth, the cartilage is disrupted presumably as a result of abnormal chondrogenesis and/ or endochondral ossification. The unique clinical features are characterized by a marked short stature, odontoid hypoplasia, protrusion of the chest, kyphoscoliosis, platyspondyly, coxa valga, abnormal gait, and laxity of joints. In spite of many descriptions of the unique clinical manifestations, diagnosis delay still occurs. The pathogenesis of systemic skeletal dysplasia in Morquio A syndrome remains an enigmatic challenge. In this review article, screening, diagnosis, pathogenesis and current and future therapies of Morquio A are discussed.

  7. CASE OF THE LATE DIAGNOSIS OF POEMS-SYNDROME

    Directory of Open Access Journals (Sweden)

    P. N. Barlamov

    2014-07-01

    Full Text Available POEMS-syndrome (P — polyneuropathy, O — organomegaly, E — endocrinopathy, M — M-protein, S — skin in 64-year old patient isdescribed in the article. The clinical picture was marked by such symptoms, as polyneuropathy, multiple myeloma, organomegaly (hepatosplenomegaly, endocrinopathy (diabetes, skin changes (redness and induration of the dermis in the neck, fever, hypoproteinemia, edema, weight loss, thrombocytosis. Bone-destructive syndrome was absent. In myelogram 18 % of the cells with signs of some plasmatic anaplasia were found. In blood, low level of paraprotein secretion Aλ, increased β2-microglobulin was fixed. A course of therapy with prednisolone and alkeranom was accompanied by slight positive effect. However, a second course was interrupted in the third day due to worsening of concomitant cardiac disease (ischemic heart disease in combination with hypertension. Last episode of recurrent of pulmonary edema occurred fatal. Autopsy study was not conducted. This observation illustrates the need for more rigorous examination (myelogram, immunochemical study of blood and urine in the presence of clinical signs of POEMS-syndrome for the timely diagnosis of the underlying disease and its treatment.

  8. Meckel-Gruber syndrome. Importance of prenatal diagnosis.

    Science.gov (United States)

    Nyberg, D A; Hallesy, D; Mahony, B S; Hirsch, J H; Luthy, D A; Hickok, D

    1990-12-01

    Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.

  9. Diagnosis of shoulder impingement syndrome; Diagnostik des Schulterimpingementsyndroms

    Energy Technology Data Exchange (ETDEWEB)

    Hodler, J. [Orthopaedische Universitaetsklinik Balgrist, Zuerich (Switzerland)

    1996-12-01

    This article reviews the pathogenesis and clinical and imaging findings in shoulder impingement syndrome. Different stages of impingement syndrome are described. Stage I relates to edema and hemorrhage of the supraspinatus tendon. Stage II is characterized by bursal inflammation and fibrosis, as well as tendinopathy. In stage III there is a tear of the rotator cuff. Clinical signs many overlap. Moreover, calcifying tendinitis, fractures and pain originating from the cervical spine may mimic shoulder impingement syndrome. Imaging is important for the exact diagnosis. Standard radiographs are the basis of imaging in shoulder impingement syndrome. They may demonstrate subchondral sclerosis of the major tuberosity, subacromial spurs, and form anomalies of the acromion. They are also important in the differential diagnosis of shoulder impingement syndrome and demonstrate calcifying tendinitis, fractures and neoplasm. Ultrasonography has found acceptance as a screening tool and even as a final diagnostic method by many authors. However, there is a high interobserver variability in the demonstration of rotator cuff tears. Its usefulness has therefore been questioned. MR imaging is probably the method of choice in the evaluation of the rotator cuff and surrounding structures. Several investigations have demonstrated that differentiation of early findings, such as tendinopathy versus partial tears, may be difficult with MR imaging. However, reproducibility for fullthickness tears appears to be higher than for sonography. Moreover, specificity appears to be superior to sonography. MR arthrography is not universally accepted. However, it allows for more exact differentiation of discrete findings and may be indicated in preoperative planning. Standard arthrography and CT have a limited role in the current assessment of the rotator cuff. (orig.) [Deutsch] Grundlage des Impingementsyndroms ist eine Kompression des Supraspinatus am akromioklavikularen Bogen vor allem bei Flexion

  10. An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.

    Science.gov (United States)

    Minzala, G; Ismail, G

    2016-10-01

    Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome.

  11. Diagnosis of Acute Respiratory Distress Syndrome in Nosocomial Pneumonia

    Directory of Open Access Journals (Sweden)

    A. N. Kuzovlev

    2009-01-01

    Full Text Available Objective: to define the informative value of the parameters of gas exchange, lung volumetry, and central hemodynamics in the diagnosis of acute respiratory distress syndrome (ARDS in nosocomial pneumonia (NP. Subjects and methods. The study included 38 patients with cancer and severe injury who were divided into 3 groups in accordance with the diagnostic criteria of ARDS and NP: 1 patients with ARDS + NP; 2 those with NP; 3 those with non-ARDS, non-PN. ARDS was diagnosed in 2 steps. At Step 1, the investigators took into account risk factors for ARDS and used the lung injury scale developed by J. Murray et al. and the ARDS diagnostic criteria defined by the American-European Consensus Conference on ARDS. At Step 2, after obtaining the data of lung volume-try (1—2 hours after Step 1, they assessed the compliance of the above criteria for ARDS with those developed by the V. A. Negovsky Research Institute of General Reanimatology, Russian Academy of Medical Sciences, and redistributed the patients between the groups. The stage of ARDS was determined in accordance with the classification of the above Institute. All the patients underwent a comprehensive examination the key element of which was to estimate gas exchange parameters and to monitor lung volumetry and central hemodynamics by the transpulmonary thermodilution methods, by using a Pulsion PiCCO Plus monitor (Pulsion Medical Systems, Germany. The findings were statistically analyzed using a Statistica 7.0 package (arithmetic mean, error of the mean, _ Student’s test, Newman-Keuls test, correlation analysis. The difference was considered to be significant if p-value was Results. The patients with ARDS + NP were observed to have a significantly lower oxygenation index (10 ml/kg and Murray scale scores (>2 than those in patients with NP without ARDS. The reference values of the pulmonary vascular permeability index due to its inadequate informative value call for further investigation. The

  12. Reconstructive dosimetry for cutaneous radiation syndrome

    OpenAIRE

    Lima, C.M.A.; Lima, A. R.; Degenhardt,Ä.L.; Valverde, N.J.; Da Silva,F.C.A.

    2015-01-01

    According to the International Atomic Energy Agency (IAEA), a relatively significant number of radiological accidents have occurred in recent years mainly because of the practices referred to as potentially high-risk activities, such as radiotherapy, large irradiators and industrial radiography, especially in gammagraphy assays. In some instances, severe injuries have occurred in exposed persons due to high radiation doses. In industrial radiography, 80 cases involving a total of 120 radiatio...

  13. Recognition, diagnosis, and treatment of restless legs syndrome.

    Science.gov (United States)

    Smith, Jennifer E; Tolson, Jerry M

    2008-08-01

    To review the symptoms, diagnosis, and treatment of restless legs syndrome (RLS) and its relevance to nurse practitioners (NPs). Comprehensive review of the scientific literature on the diagnosis and treatment of RLS in adults. RLS is a chronic neurological disorder that, with varying degrees of severity, affects 5%-10% of the general population. Because of the circadian pattern of onset, the symptoms of RLS may be associated with significant sleep disturbance and may have a negative impact on quality of life. RLS is characterized by a compelling urge to move the legs and usually accompanied or caused by uncomfortable sensations in the legs. Symptoms begin or worsen during periods of rest or inactivity and are worse in the evening or at night. Other features supportive of a diagnosis include a family history, the presence of periodic leg movements in sleep, and the relief of symptoms after treatment with a dopaminergic therapy. Although the etiology of RLS is unknown, it is thought that symptoms result from a central dopaminergic dysfunction and dopamine agonists are considered first-line treatment for moderate-to-severe primary RLS. Nondopaminergic therapies and nonpharmacologic interventions may also be appropriate in the management of less severe cases of RLS. NPs are often the first healthcare providers to see patients with RLS and therefore need to be able to accurately recognize and diagnose the disorder; this, in turn, will enable them to successfully manage the treatment of RLS.

  14. The "Not Guilty Verdict": Psychological Reactions to a Diagnosis of Asperger Syndrome in Adulthood

    Science.gov (United States)

    Punshon, C.; Skirrow, P.; Murphy, G.

    2009-01-01

    Asperger syndrome is a relatively new diagnostic classification. A number of factors make receiving a diagnosis of Asperger syndrome in adulthood a unique experience. This study used a phenomenological approach to examine the experiences of 10 adults receiving such a diagnosis. Results suggested that six major themes were associated with receiving…

  15. The "Not Guilty Verdict": Psychological Reactions to a Diagnosis of Asperger Syndrome in Adulthood

    Science.gov (United States)

    Punshon, C.; Skirrow, P.; Murphy, G.

    2009-01-01

    Asperger syndrome is a relatively new diagnostic classification. A number of factors make receiving a diagnosis of Asperger syndrome in adulthood a unique experience. This study used a phenomenological approach to examine the experiences of 10 adults receiving such a diagnosis. Results suggested that six major themes were associated with receiving…

  16. The investigation and differential diagnosis of Asperger syndrome in adults.

    Science.gov (United States)

    Lehnhardt, Fritz-Georg; Gawronski, Astrid; Pfeiffer, Kathleen; Kockler, Hanna; Schilbach, Leonhard; Vogeley, Kai

    2013-11-08

    As a result of the increased public interest in autism spectrum disorders (ASD), certain core manifestations of ASD--impaired social interaction and communication, bizarre interests--are now commonly recognized as being typical of autism, not only in children, but in adults as well. More often than before, general practitioners, neurologists, and psychiatrists find themselves being asked whether a patient is suffering from previously unrecognized Asperger syndrome (AS). The prevalence of ASD is estimated at 1%, and the ratio of diagnosed to undiagnosed cases at about 3:2. Little is known about the diagnostic evaluation of AS in adulthood. We selectively searched the Medline database for pertinent literature, paying special attention to diagnostic manuals and to the guideline of the United Kingdom's National Institute for Health and Care Excellence (NICE). Centrally important aspects of the diagnosis of AS include an assessment of the patient's ability to assume the emotional perspectives of others, non-verbal modes of expression, repetitive behavior patterns, and childhood social behavioral history. The autism quotient (AQ) is now established as a simple but nonspecific screening test. Up to 70% of all affected adults have comorbid disturbances, most often depression and anxiety disorders. The differential diagnosis includes personality disorders, anxiety disorders, obsessive-compulsive disorder, and attention deficit-hyperactivity disorder. The diagnostic assessment should proceed in stepwise fashion, starting from simple screening in primary care and then moving on to evaluation of the suspected diagnosis by a mental health care specialist, followed by extensive further investigation in an outpatient clinic specifically devoted to patients with autism spectrum disorders. The diagnostic assessment of autism in adults requires knowledge of the core and accompanying manifestations of autism and of their differential diagnoses. More research is needed for the

  17. An expert system for the diagnosis of irritable bowel syndrome.

    Science.gov (United States)

    Surdea-Blaga, Teodora; Dumitraşcu, Dan-Lucian

    2013-01-01

    For a long time functional digestive disorders (FGIDs), including irritable bowel syndrome (IBS), were described based on what they are not, without considering them real entities. Although IBS evolution is benign, it has major effects on the quality of life, it determines a higher number of days of sick leave or days when work activities had to be interrupted, thus increasing the expenses for the society. Our system, developed using CORVID Exsys, is called IBS Expert and addresses both patients and physicians. Answering some simple questions, patients will receive information about their diagnosis, together with additional recommendations. Non-expert physicians will have rapid access to the algorithm of IBS diagnosis, and could use recommendations for future investigations. This expert system is based on the information provided by the most complete collection of data about FGIDs, created by an international group of experts, who elaborated Rome III criteria. The system consists of three sub-systems, including a set of eighteen questions and the diagnosis of IBS, as well as additional recommendations, established using confidence variables. The evaluation of the system consisted of verification (determining the accuracy of the results to ensure the delivery of diagnosis and recommendations as it was intended), validation of knowledge (met through the use of the gold standard in the field) and assessment of the impact on users, either patients or physicians (measuring overall satisfaction and the user effort score in using the system). The system is available online at www.gastroterra.ro and can be accessed by using any Java-enabled device, from standard computers to mobile devices.

  18. [Practical guidelines for diagnosis and therapy of restless legs syndrome].

    Science.gov (United States)

    Krenzer, M; Oertel, W; Trenkwalder, C

    2014-01-01

    Restless legs syndrome (RLS) is the most common neurological sleep disorder affecting 10 % of the Caucasian population. The disorder is characterized by painful sensations in the lower limbs, especially during the evening, at night and during rest, resulting in an urge to move the legs and insomnia. As a result the quality of life is significantly reduced. Dopaminergic agents, opioids and anticonvulsants have proven to be effective for RLS with only the former being currently licensed; however, affected patients have to be identified, which is not always the case, especially in outpatient settings. Possible impediments to the adequate management of patients with RLS may include a lack of awareness, comorbidities and other medical conditions mimicking RLS. To overcome some of these difficulties practical guidelines for the diagnosis and therapy of RLS are provided.

  19. Diagnosis and Management of Polycystic Ovary Syndrome in Adolescent Girls.

    Science.gov (United States)

    Lanzo, Erin; Monge, Maria; Trent, Maria

    2015-09-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder in adolescent girls that has both reproductive and metabolic implications. Patients with PCOS typically present to their pediatrician for evaluation of menstrual irregularity and/or signs of hyperandrogenism, such as hirsutism and acne. The diagnosis of PCOS is made by clinical symptoms and laboratory evaluation. Because of the long-term health consequences that can accompany the disorder, pediatricians should consider PCOS in their initial evaluation of menstrual irregularity. Lifestyle modification is the cornerstone of treatment for girls with PCOS; however, hormonal medication such as oral contraceptive pills and insulin-sensitizing agents are useful and effective adjuncts to therapy. The goals of treatment for girls with PCOS are to improve clinical manifestations of the disorder, health-related quality of life, and long-term health outcomes.

  20. The not guilty verdict: psychological reactions to a diagnosis of Asperger syndrome in adulthood.

    Science.gov (United States)

    Punshon, Clare; Skirrow, Paul; Murphy, Glynis

    2009-05-01

    Asperger syndrome is a relatively new diagnostic classification. A number of factors make receiving a diagnosis of Asperger syndrome in adulthood a unique experience. This study used a phenomenological approach to examine the experiences of 10 adults receiving such a diagnosis. Results suggested that six major themes were associated with receiving a diagnosis of Asperger syndrome. Individuals discussed their negative life experiences and their experience of services prior to diagnosis, which led to individuals holding certain beliefs about the symptoms of Asperger syndrome. These beliefs had an effect on the formation of each individual's perceived self-identity. Participants made links between how they felt when they received the diagnosis and their current beliefs about both their ;symptoms' and themselves. Finally, participants highlighted the importance of the societal view of Asperger syndrome. The implications of these findings are reappraised in the context of previous research and the wider literature on identity formation.

  1. Does the metabolic syndrome add to the diagnosis and treatment of cardiovascular disease?

    NARCIS (Netherlands)

    de Zeeuw, Dick; Bakker, Stephan J. L.

    Much controversy has surrounded both the pathological basis and the clinical utility of the metabolic syndrome. Key questions still revolve around the definition of this syndrome, its utility as a predictor of cardiovascular risk, and the treatment implications of diagnosis. The metabolic syndrome

  2. Does the metabolic syndrome add to the diagnosis and treatment of cardiovascular disease?

    NARCIS (Netherlands)

    de Zeeuw, Dick; Bakker, Stephan J. L.

    2008-01-01

    Much controversy has surrounded both the pathological basis and the clinical utility of the metabolic syndrome. Key questions still revolve around the definition of this syndrome, its utility as a predictor of cardiovascular risk, and the treatment implications of diagnosis. The metabolic syndrome i

  3. Does the metabolic syndrome add to the diagnosis and treatment of cardiovascular disease?

    NARCIS (Netherlands)

    de Zeeuw, Dick; Bakker, Stephan J. L.

    2008-01-01

    Much controversy has surrounded both the pathological basis and the clinical utility of the metabolic syndrome. Key questions still revolve around the definition of this syndrome, its utility as a predictor of cardiovascular risk, and the treatment implications of diagnosis. The metabolic syndrome i

  4. Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes.

    Science.gov (United States)

    Singer, Kanakadurga; Heiniger, Nicholas; Thomas, Inas; Worden, Francis P; Menon, Ram K; Chen, Ming

    2014-09-01

    We describe a 13-year-old male with multiple endocrine neoplasia syndrome type 2B with medullary thyroid carcinoma who was diagnosed with ectopic adrenocorticotropin-dependent Cushing syndrome. This report highlights the importance of monitoring for paraneoplastic syndrome in MEN and clues to the diagnosis of this complication provided by growth patterns.

  5. Restless legs syndrome: differential diagnosis and management with pramipexole

    Directory of Open Access Journals (Sweden)

    Francesca Brindani

    2009-06-01

    Full Text Available Francesca Brindani, Francesca Vitetta, Franco GemignaniDepartment of Neurosciences, University of Parma, ItalyAbstract: Restless legs syndrome (RLS is a condition characterized by discomfort at rest and urge to move focused on the legs. RLS may occur as an idiopathic, often hereditary condition (primary RLS, or in association with medical conditions (secondary RLS including iron deficiency, uremia, and polyneuropathy. Current understanding of the pathophysiology of RLS points to the involvement of three interrelated components: dopaminergic dysfunction, impaired iron homeostasis, and genetic mechanisms. The diagnosis of RLS is made according to the consensus criteria by a National Institutes of Health panel: 1 an urge to move the legs, usually accompanied by uncomfortable sensations; 2 beginning or worsening during rest; 3 relieved by movement; and 4 worse, or only occurring, in the evening or at night. The differential diagnosis of RLS aims to: 1 distinguish RLS from other disorders with RLS-like symptoms and 2 identify secondary forms, with investigation of underlying diseases. The treatment of RLS demands a clinical evaluation to rule out and cure causes of secondary RLS, including iron supplementation when deficient, and to eliminate the triggering factors. The presence of neuropathy should be especially investigated in nonhereditary, late-onset RLS, in view of a possible treatment of the underlying disease. The first line treatment for idiopathic RLS is represented by dopamine agonists, in particular nonergot-derived ropinirole and pramipexole, whereas ergot dopamine agonists (cabergoline and pergolide are no longer in first-line use given the risks of cardiac valvulopathy. Although no comparative trials have been published, a meta-analysis of pramipexole versus ropinirole suggests differences in efficacy and tolerability favoring pramipexole.Keywords: restless legs syndrome, pramipexole, dopamine, agonists, small fiber neuropathy

  6. PATIENTS' PERCEPTION ON CLINICAL OUTCOME AND QUALITY OF LIFE AFTER A DIAGNOSIS OF CUSHING SYNDROME.

    Science.gov (United States)

    Papoian, Vardan; Biller, Beverly M K; Webb, Susan M; Campbell, Karen K; Hodin, Richard A; Phitayakorn, Roy

    2016-01-01

    Excess cortisol production (Cushing syndrome, CS) is a chronic disease affecting many organ systems and impacting quality of life (QoL). This study analyzed factors associated with self-reported QoL, including aspects related to the diagnosis and treatment modalities of CS. In collaboration with the Cushing's Support and Research Foundation (CSRF), surveys using a validated QoL instrument were sent to CSRF members. Data were analyzed for associations between QoL and demographic, treatment, and disease factors. A total of 269 patients completed the survey. Respondents were 89.9% female, and the mean age was 48 years (SD 12, range 16-76). Respondents visited a median of 4 physicians (range 1-40) prior to the diagnosis of CS, with a median of 5 years (mean 7, SD 5, range 1-30) to obtain a diagnosis, showing a statistically significant negative correlation (P<.001). In one-quarter of cases, someone other than a physician suggested the diagnosis. Multiple regression analysis demonstrated that remission status, time to diagnosis, radiation therapy, and hypopituitarism were significant predictors of QoL. There was no association between QoL and patient's sex, age, replacement steroid use, having follow-up with an endocrinologist, or surgical approach. This is one of the largest QoL studies of CS patients and provides information for treatment and education goals. It is notable that early diagnosis and treatment was the major predictor of better QoL after achieving remission from disease, highlighting the need for awareness about the disorder. Patients in remission had better QoL, emphasizing the importance of disease control.

  7. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Senocak, Efsun Urger; Oguz, Kader Karli; Akata, Deniz [Hacettepe University Faculty of Medicine, Department of Radiology, Sihhiye, Ankara (Turkey); Haliloglu, Goknur [Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara (Turkey); Karcaaltincaba, Deniz; Kandemir, Omer [Etlik Zubeyde Hanim Woman' s Hospital, Department of Obstetrics and Gynaecology, Ankara (Turkey)

    2009-04-15

    Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented. (orig.)

  8. Sawyer Syndrome Coexisting with Gonadoblastoma and Dysgerminoma, Delayed Diagnosis

    Directory of Open Access Journals (Sweden)

    zohreh yousefiu

    2016-06-01

    Full Text Available Introduction: Sawyer   syndrome characterized by the presence   sexual abnormality , gonadal disgenesis. The current practice is to proceed to a gonadectomy once the diagnosis due to due to the fact that the  risk   malignant transformation entirely in dysgenetic gonad.  Case   report: We present a case of Sawyer   syndrome  who  referred to the department of gynecology   oncology at Ghaem Hospital, Mashhad University, Iran in 2015 for evaluation of abdomino- pelvic distention.  She was a 18-year-old female with 46, XY karyotype and   poor secondary sexual characters  ,she suffered of abdominal  pain , multiple abdomino- pelvic  mass. Surgical excision of the mass along with bilateral salpingophorectomy  revealed   gonadoblastoma  in one gonad and dysgerminoma in the second one.  After combination chemotherapy she was under fallow-up. Conclusion: This case is presented because of its  could excellent prognosis if   not  missed opportunities in early recognizing  and  furthermore  adequate  treated with gonadectomy.

  9. [Short bowel syndrome in children: a diagnosis and management update].

    Science.gov (United States)

    Valdovinos, D; Cadena, J; Montijo, E; Zárate, F; Cazares, M; Toro, E; Cervantes, R; Ramírez-Mayans, J

    2012-01-01

    Short bowel syndrome (SBS) refers to the sum of the functional alterations that are the result of a critical reduction in the length of the intestine, which in the absence of adequate treatment, presents as chronic diarrhea, chronic dehydration, malnutrition, weight loss, nutriment and electrolyte deficiency, along with a failure to grow that is present with greater frequency during the neonatal period. The aim was to carry out a review of the literature encompassing the definition and the most frequent causes of SBS, together with an understanding of its physiopathology, prognostic factors, and treatment. An Internet search of PubMed articles was carried out for the existing information published over the last 20 years on SBS in children, using the keywords "short bowel syndrome". From a total of 784 potential articles, 82 articles were chosen for the literature review. The treatment of patients presenting with SBS is quite a challenge and therefore it is necessary to establish multidisciplinary management with a focus on maintaining optimal nutritional support that covers the necessities of growth and development and at the same time provides a maximum reduction of short, medium, and long-term complications. The diagnosis and treatment of a child with SBS require a team of professionals that are experts in gastroenterologic, pediatric, and nutritional management. The outcome for the child will be directly related to opportune management, as well as to the length of the intestinal resection and the presence or absence of the ileocecal valve.

  10. SAPHO syndrome in the differential diagnosis of metastasis.

    Science.gov (United States)

    Berenguer Francés, Miguel Ángel; Lafaurie Acevedo, Alejandro; Tormo Ferrero, Vicente; Cardenal Macia, Rafael; Andreu Martínez, Francisco José

    2016-01-01

    SAPHO syndrome was proposed in the late 80s in order to group different osteoarticular manifestations with specific radiological findings such as the hyperostosis of the front part of the chest wall. Prevalence, etiology and pathogenesis of the disease are unknown, while diagnosis is made both clinically and by the specific gammagraphic image of «bull horn» in the sternoclavicular joint. The following case of a 64-year-old woman diagnosed with infiltrating ductal carcinoma of the right breast pT1N0Mx is reported. When studying the extent of the disease, a gammagraphic image of diffuse blast injury in the sterna manubrium was evidenced, which allowed the suspicion of Paget's disease or metastatic injury. Study was completed with a chest CT in which manubrium sclerosis was evidenced, suggesting metástasis. Res ults of the studies pointed out SAPHO syndrome as the most likely diagnostic option. The low tumor stage of the patient prompted the idea of possible alternative diagnoses. A deeper knowledge of this clinical condition may be crucial to avoid mistakes when classifying a subject in more advanced tumor stages, and consequently, to prevent the use of more aggressive chemotherapy and radiotherapy treatments.

  11. Cerebrovascular Acute Radiation Syndrome : Radiation Neurotoxins, Mechanisms of Toxicity, Neuroimmune Interactions.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Introduction: Cerebrovascular Acute Radiation Syndrome (CvARS) is an extremely severe in-jury of Central Nervous System (CNS) and Peripheral Nervous System (PNS). CvARS can be induced by the high doses of neutron, heavy ions, or gamma radiation. The Syndrome clinical picture depends on a type, timing, and the doses of radiation. Four grades of the CvARS were defined: mild, moderate, severe, and extremely severe. Also, four stages of CvARS were developed: prodromal, latent, manifest, outcome -death. Duration of stages depends on the types, doses, and time of radiation. The CvARS clinical symptoms are: respiratory distress, hypotension, cerebral edema, severe disorder of cerebral blood microcirculation, and acute motor weakness. The radiation toxins, Cerebro-Vascular Radiation Neurotoxins (SvARSn), determine development of the acute radiation syndrome. Mechanism of action of the toxins: Though pathogenesis of radiation injury of CNS remains unknown, our concept describes the Cv ARS as a result of Neurotoxicity and Excitotoxicity, cell death through apoptotic necrosis. Neurotoxicity occurs after the high doses radiation exposure, formation of radiation neuro-toxins, possible bioradicals, or group of specific enzymes. Intracerebral hemorrhage can be a consequence of the damage of endothelial cells caused by radiation and the radiation tox-ins. Disruption of blood-brain barrier (BBB)and blood-cerebrospinal fluid barrier (BCFB)is possibly the most significant effect of microcirculation disorder and metabolic insufficiency. NMDA-receptors excitotoxic injury mediated by cerebral ischemia and cerebral hypoxia. Dam-age of the pyramidal cells in layers 3 and 5 and Purkinje cell layer the cerebral cortex , damage of pyramidal cells in the hippocampus occur as a result of cerebral ischemia and intracerebral bleeding. Methods: Radiation Toxins of CV ARS are defined as glycoproteins with the molec-ular weight of RT toxins ranges from 200-250 kDa and with high enzymatic activity

  12. Diagnosis and management of non-criteria obstetric antiphospholipid syndrome.

    Science.gov (United States)

    Arachchillage, Deepa R Jayakody; Machin, Samuel J; Mackie, Ian J; Cohen, Hannah

    2015-01-01

    Accurate diagnosis of obstetric antiphospholipid syndrome (APS) is a prerequisite for optimal clinical management. The international consensus (revised Sapporo) criteria for obstetric APS do not include low positive anticardiolipin (aCL) and anti β2 glycoprotein I (aβ2GPI) antibodies (pregnancy morbidity, particularly recurrent pregnancy loss, suggest that elimination of aCL and/or IgM aβ2GPI, or low positive positive aCL or aβ2GPI from APS laboratory diagnostic criteria may result in missing the diagnosis in a sizeable number of women who could be regarded to have obstetric APS. Such prospective and retrospective studies also suggest that women with non-criteria obstetric APS may benefit from standard treatment for obstetric APS with low-molecular-weight heparin plus low-dose aspirin, with good pregnancy outcomes. Thus, non-criteria manifestations of obstetric APS may be clinically relevant, and merit investigation of therapeutic approaches. Women with obstetric APS appear to be at a higher risk than other women of pre-eclampsia, placenta-mediated complications and neonatal mortality, and also at increased long-term risk of thrombotic events. The applicability of these observations to outcomes in women with non-criteria obstetric APS remains to be determined.

  13. EARLY DIAGNOSIS OF MYELODYSPLASTIC SYNDROMES USING CLONAL ANALYSES

    Institute of Scientific and Technical Information of China (English)

    钱军; 薛永权; 虞斐; 吴亚芳; 潘金兰; 陆定伟

    2002-01-01

    Objective: To study the value of clonal analysis to the early diagnosis of myelodysplastic syndrome (MDS). Methods: Four types of clonal analyses were performed on the bone marrow samples from 50 patients suspected of MDS: (1) Conventional Cytogenetics (CC) for clonal chromosomal abnormalities; (2) BrdU-Sister Chromatid Differentiation (BrdU-SCD) for cell cycle kinetics; (3) Fluorescence in Situ Hybridization (FISH) for trisomy 8; (4) Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) for N-ras mutation. Results: The diagnosis of forty-three patients was compatible with the FAB criteria for MDS. The other seven cases didn't meet the FAB criteria, with only one lineage of dyspoiesis or with no obvious dysplastic changes. Among these seven cases, two were morphologically diagnosed with suspicious refractory anemia, one with sideroblastic anemia, one with leukemoid reaction, one with hypercellular anemia and two with chronic aplastic anemia. Clonal analyses of the 7 patients showed that six cases had clonal karyotype abnormalities, four had prolonged cell cycle patterns, four had trisomy 8 of different proportions and one had mutation of the exon 1 of N-RAS. Thus, they were revaluated as MDS patients. Conclusion: The untypical MDS patients with one lineage dyspoiesis or without obvious dysplastic changes can be diagnosed early by combining multiple clonal analysis techniques such as CC, SCD, FISH and PCR-SSCR.

  14. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.

    Science.gov (United States)

    Alexiev, Borislav A; Lin, Xiaoqing; Sun, Chen-Chih; Brenner, David S

    2006-08-01

    This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and differential diagnosis. Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the 14th week of gestation, but the pathologist may encounter clinically unsuspected or atypical cases that require morphologic confirmation. In these cases, a meticulous autopsy is necessary to establish the diagnosis of Meckel-Gruber syndrome.

  15. Case Report : A Relieved Family with the Diagnosis of Wernicke-Korsakoff Syndrome

    Directory of Open Access Journals (Sweden)

    Ahmet Kokurcan

    2014-02-01

    Full Text Available Wernicke-Korsakoff Syndrome (WKS is a diagnosis formed from Wernicke ensephalopathy and Korsakoff Syndrome together. WKS is usually a chronic syndrome beginning acutely. Wernicke%u2019s encephalopathy is an acute syndrome composed of the triad of oculomotor signs; ataxia and confusion. B vitamines especially tiamine are considered to cause the syndrome. Korsakoff syndrome is a syndrome presenting with amnesia and amnesia is permanent in many cases. While Korsakoff syndrome is a continuation form of Wernicke; the syndromes are admitted as the acute and chronic conditions of the same pathophysiology. WKS syndrome means despair for many psychiatrists and the family unless treatment is initiated in the acute phase and irreversible cognitive impairment is prevented. We will discuss a case of WKS pleasing his family as nervousness has improved with cognitive impairment.

  16. Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.

    Science.gov (United States)

    Kurtulmuş, Seçil; Demirpençe, Savaş; Can Öztekin, Deniz; Koç, Altuğ; Tavlı, Vedide

    2014-03-01

    We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liver, left-sided stomach and vena cava interruption with azygos continuation. There was also an apical trabecular ventricular septal defect, aorta and pulmonary artery arising from the left ventricle, pulmonary artery hypoplasia, pulmonary valve stenosis and left atrial isomerism. The heart rate was 46/min, consistent with third-degree atrioventricular block. Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. The pregnancy was terminated in the 23rd gestational week based on the consensus of perinatology council. The autopsy examination confirmed the diagnosis of MKS, left atrial isomerism and heterotaxy syndrome. Although some cardiac defects have been reported previously in MKS fetuses, here we expand the cardiac spectrum of anomalies associated with MKS to include left atrial isomerism and heterotaxy syndrome.

  17. [Diagnosis and novel treatment approaches in restless legs syndrome: I. Pathophysiology and diagnosis].

    Science.gov (United States)

    Hirata, Koichi; Suzuki, Keisuke

    2013-10-01

    Restless legs syndrome (RLS) is a clinically important, common disease and should be diagnosed and treated early and adequately. At present, there have been no clinical biomarkers or methodologies that can contribute to the correct diagnosis of RLS, RLS should be diagnosed on the basis of 4 essential criteria: urge to move the legs, improvement after movement, and worsening or occurrence of symptoms in the evening and at rest. When applying the criteria, RLS mimics should be ruled out and comorbid diseases should be taken into account. The origin and pathogenesis of RLS are still under investigation; however, iron deficiency in the brain has been observed on imaging and cerebrospinal fluid analyses of patients with RLS. In contrast, the results of neuroimaging studies evaluating brain dopaminergic functions in patients with RLS have yielded inconclusive results, although involvement of the hypothalamus (A11) is thought to cause impaired dopaminergic modulation in the dorsal horn and intermediolateral nucleus, resulting in the restlessness of legs.

  18. Incidence of a clinical diagnosis of the irritable bowel syndrome in a United States population.

    Science.gov (United States)

    Locke, G R; Yawn, B P; Wollan, P C; Melton, L J; Lydick, E; Talley, N J

    2004-05-01

    The incidence of irritable bowel syndrome is uncertain. We aimed to determine the incidence of clinically diagnosed irritable bowel syndrome in the community. Using the Rochester Epidemiology Project, all diagnoses of irritable bowel syndrome made among adult residents of Olmsted County, Minnesota, over a 3-year period were identified. The complete medical records of a random sample of the potential subjects were reviewed for the 10 years prior to the irritable bowel syndrome diagnosis and any patient who had received a previous diagnosis of irritable bowel syndrome was excluded (prevalent cases). The diagnostic index listed 1245 possible irritable bowel syndrome patients; 416 patient charts were reviewed and, of these, 149 were physician diagnosed incident cases of irritable bowel syndrome. The age- and sex-adjusted incidence rate was 196 per 100,000 person-years and increased with age (P = 0.006). The age-adjusted annual incidence per 100,000 in women was higher than in men: 238 vs. 141 (ratio 3:2; P = 0.005). The overall symptom frequency at the time of diagnosis was abdominal pain (73%), diarrhoea (41%) and constipation (16%). The incidence of a clinical diagnosis of irritable bowel syndrome in adults was estimated to be two per 1000 per year, increased with age and was higher in women than men. As many people with irritable bowel syndrome do not seek care, the true incidence of irritable bowel syndrome is likely to be higher.

  19. Optical diagnosis of internal cystitis / painful bladder syndrome

    Science.gov (United States)

    Shadgan, Babak; Macnab, Andrew; Stothers, Lynn

    Background: Painful bladder syndrome/interstitial cystitis (PBS/IC) is defined as a syndrome of urgency, frequency, and suprapubic pain in the absence of positive urine culture or obvious bladder pathology. As no specific etiology has been identified yet, no specific methodology exists for diagnosis of this condition. One potential etiology of PBS/IC is inflammation of the bladder mucosa associated with abnormal angiogenesis and ulcerative lesions. The purpose of this study was to examine the feasibility of using transcutaneous near infrared spectroscopy (NIRS) of the bladder to monitor tissue oxygenation and hemodynamics as a means of differentiating subjects diagnosed with PBS/IC from those with other bladder conditions. Methods: Twenty-four adult patients with lower urinary tract dysfunction were divided into 2 groups, PBS/IC and non-PBS/IC after standard diagnostic investigations. Detrusor oxygen saturation percentage (TSI%) was measured in all subjects while they were at rest in a supine position, using a spatially resolved (SR) NIRS instrument. Mean values of detrusor TSI% were significantly different between the two groups (74.2%+/-4.9 in PBS/IC vs. 63.6%+/-5.5 in non-PBS/IC, P<0.0005). Results: Noninvasive NIRS interrogation of the bladder demonstrated that patients diagnosed as having PBS/IC had significantly higher detrusor oxygen saturation at rest. Conclusions: SR-NIRS as a feasible non-noninvasive entity for use in the evaluation of patients for the presence or absence of physiologic changes associated with PBS/IC.

  20. Antiradiation Antitoxin IgG : Immunological neutralization of Radiation Toxins at Acute Radiation Syndromes.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Introduction: High doses of radiation induce apoptotic necrosis of radio-sensitive cells. Mild doses of radiation induce apoptosis or controlled programmed death of radio-sensitive cells with-out development of inflammation and formation of Radiation Toxins. Cell apoptotic necrosis initiates Radiation Toxins (RT)formation. Radiation Toxins play an important role as a trig-ger mechanism for inflammation development and cell lysis. If an immunotherapy approach to treatment of the acute radiation syndromes (ARS) were to be developed, a consideration could be given to neutralization of radiation toxins (Specific Radiation Determinants-SRD) by specific antiradiation antibodies. Therapeutic neutralization effects of the blocking anti-radiation antibodies on the circulated RT had been studied. Radiation Toxins were isolated from the central lymph of irradiated animals with Cerebrovascular(Cv ARS),Cardiovascular (Cr ARS),Gastrointestinal(Gi ARS) and Haemopoietic (Hp ARS) forms of ARS. To accomplish this objective, irradiated animals were injected with a preparation of anti-radiation immunoglobulin G (IgG) obtained from hyperimmune donors. Radiation-induced toxins that we call Specific Radiation Determinants (SRD) possess toxic (neurotoxic, haemotoxic) characteristics as well as specific antigenic properties. Depending on direct physiochemical radiation damage, they can induce development of many of the pathological processes associated with ARS. We have tested several specific hyperimmune IgG preparations against these radiation toxins and ob-served that their toxic properties were neutralized by the specific antiradiation IgGs. Material and Methods: A scheme of experiments was following: 1.Isolation of radiation toxins (RT) from the central lymph of irradiated animals with different form of ARS. 2.Transformation of a toxic form of the RT to a toxoid form of the RT. 3.Immunization of radiation naive animals. Four groups of rabbits were inoculated with a toxoid form of SRD

  1. Neonatal Respiratory Distress Syndrome: Early Diagnosis, Prevention, and Treatment

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available to improve treatment results in premature infants with neonatal respiratory distress syndrome (NRDS, by establishing developmental mechanisms and elaborating methods for its early diagnosis, treatment, and prevention. Material and methods. The paper analyzes the results of a clinical observation and laboratory, instrumental, immunological, morphological, and radiological studies of 320 premature neonates at 26—35 weeks gestational age. The following groups of neonates were identified: 1 40 premature neonatal infants without NRDS and with the physiological course of an early neonatal period (a comparison group; 2 190 premature neonates with severe NRDS in whom the efficiency of therapy with exogenous surfactants, such as surfactant BL versus curosurf, was evaluated; 3 90 premature newborn infants who had died from NRDS at its different stages. Results. The poor maternal somatic, obstetric, and gynecological histories in the early periods of the current pregnancy create prerequisites for its termination, favor the development of severe acute gestosis, and cause abnormal placental changes. Each gestational age is marked by certain placental changes that promote impaired uterineplacentalfetal blood flow and premature birth. Alveolar and bronchial epithelial damages, including those ante and intranatally, microcircula tory disorders play a leading role in the tanatogenesis of NRDS. Intranatal hypoxia and amniotic fluid aspiration are one of the important factors contributing to alveolar epithelial damage and NRDS in premature neonates. Exogenous surfactants prevent the development of hyaline membranes and are useful in the normalization of ventilation-perfusion relationships and lung biomechanical properties. Conclusion. This study could improve the diagnosis and treatment of NRDS, which assisted in reducing the duration of mechanical ventilation from 130±7.6 to 65±11.6 hours, the number of complications (the incidence of intragastric

  2. [Diagnosis and symptom rating scale of restless legs syndrome].

    Science.gov (United States)

    Inoue, Yuichi

    2009-05-01

    Restless legs syndrome (RLS) is a sensorimotor disorder, characterized by an irresistible urge to move the legs and usually accompanied or caused by uncomfortable and unpleasant sensations. It begins or worsens during periods of rest or inactivity, is partially or totally relieved by movement and is exacerbated or occurs mainly in the evening or night. People suffering from RLS are estimated to represent 2-3% of the general Japanese population, which is relatively lower than the estimated prevalence in western countries. Supportive diagnostic critevia include family history, the presence of periodic-leg movements (PLM) when awake or asleep, and a positive response to dopaminergic treatment. RLS phenotypes include an early onset form that is usually idiopathic with frequent familial history and a late onset form that is usually secondary to other somatic conditions that are causative factors in RLS occurrence. In all patients presenting with complaints of insomnia or discomfort in the lower limbs, diagnosis of RLS should be considered. RLS should be differentiated from akathisia, which is an urge to move the whole body in the absence of uncomfortable sensations. Polysomnographic studies and the suggested immobilization test (SIT) can detect PLM in patients that are asleep or awake. RLS may cause severe sleep disturbances, poor quality of life, depressive and anxious symptoms, and may be a risk factor for cardiovascular disease. Secondary RLS may occur due to iron deficiency, end-stage renal disease, pregnancy, peripheral neuropathy and drug use including antipsychotics and antidepressants. Small fiber neuropathy can trigger RLS or mimic its symptoms. RLS is associated with many neurological disorders, including Parkinson disease and multiple system atrophy; althoughit does not predispose to these diseases. A symptom rating scale for RLS authorized by the International RLS Study Group (IRLS) would facilitate accurate diagnosis of this condition.

  3. Restless legs syndrome: differential diagnosis and management with pramipexole.

    Science.gov (United States)

    Brindani, Francesca; Vitetta, Francesca; Gemignani, Franco

    2009-01-01

    Restless legs syndrome (RLS) is a condition characterized by discomfort at rest and urge to move focused on the legs. RLS may occur as an idiopathic, often hereditary condition (primary RLS), or in association with medical conditions (secondary RLS) including iron deficiency, uremia, and polyneuropathy. Current understanding of the pathophysiology of RLS points to the involvement of three interrelated components: dopaminergic dysfunction, impaired iron homeostasis, and genetic mechanisms. The diagnosis of RLS is made according to the consensus criteria by a National Institutes of Health panel: 1) an urge to move the legs, usually accompanied by uncomfortable sensations; 2) beginning or worsening during rest; 3) relieved by movement; and 4) worse, or only occurring, in the evening or at night. The differential diagnosis of RLS aims to: 1) distinguish RLS from other disorders with RLS-like symptoms and 2) identify secondary forms, with investigation of underlying diseases. The treatment of RLS demands a clinical evaluation to rule out and cure causes of secondary RLS, including iron supplementation when deficient, and to eliminate the triggering factors. The presence of neuropathy should be especially investigated in nonhereditary, late-onset RLS, in view of a possible treatment of the underlying disease. The first line treatment for idiopathic RLS is represented by dopamine agonists, in particular nonergot-derived ropinirole and pramipexole, whereas ergot dopamine agonists (cabergoline and pergolide) are no longer in first-line use given the risks of cardiac valvulopathy. Although no comparative trials have been published, a meta-analysis of pramipexole versus ropinirole suggests differences in efficacy and tolerability favoring pramipexole.

  4. The Diagnosis of Polycystic Ovary Syndrome in Adolescents.

    Science.gov (United States)

    Rosenfield, Robert L

    2015-12-01

    Consensus has recently been reached by international pediatric subspecialty societies that otherwise unexplained persistent hyperandrogenic anovulation using age- and stage-appropriate standards are appropriate diagnostic criteria for polycystic ovary syndrome (PCOS) in adolescents. The purpose of this review is to summarize these recommendations and discuss their basis and implications. Anovulation is indicated by abnormal uterine bleeding, which exists when menstrual cycle length is outside the normal range or bleeding is excessive: cycles outside 19 to 90 days are always abnormal, and most are 21 to 45 days even during the first postmenarcheal year. Continued menstrual abnormality in a hyperandrogenic adolescent for 1 year prognosticates at least 50% risk of persistence. Hyperandrogenism is best indicated by persistent elevation of serum testosterone above adult norms as determined in a reliable reference laboratory. Because hyperandrogenemia documentation can be problematic, moderate-severe hirsutism constitutes clinical evidence of hyperandrogenism. Moderate-severe inflammatory acne vulgaris unresponsive to topical treatment is an indication to test for hyperandrogenemia. Treatment of PCOS is symptom-directed. Cyclic estrogen-progestin oral contraceptives are ordinarily the preferred first-line medical treatment because they reliably improve both the menstrual abnormality and hyperandrogenism. First-line treatment of the comorbidities of obesity and insulin resistance is lifestyle modification with calorie restriction and increased exercise. Metformin in conjunction with behavior modification is indicated for glucose intolerance. Although persistence of hyperandrogenic anovulation for ≥2 years ensures the distinction of PCOS from physiologic anovulation, early workup is advisable to make a provisional diagnosis so that combined oral contraceptive treatment, which will mask diagnosis by suppressing hyperandrogenemia, is not unnecessarily delayed.

  5. European consensus on the medical management of acute radiation syndrome and analysis of the radiation accidents in Belgium and Senegal.

    Science.gov (United States)

    Gourmelon, Patrick; Benderitter, Marc; Bertho, Jean Marc; Huet, Christelle; Gorin, Norbert Claude; De Revel, Patrick

    2010-06-01

    A European consensus concerning the medical management of mass radiation exposure was obtained in 2005 during a conference held by the European Group for Blood and Bone Marrow Transplantation, the Institute of Radioprotection and Nuclear Safety, and the University of Ulm. At the conference, a two-step triage strategy to deal with large masses of radiation-exposed patients was designed. The first step of this strategy concerns the first 48 h and involves scoring the patients exclusively on the basis of their clinical symptoms and biological data. This allows the non-irradiated bystanders and outpatient candidates to be identified. The remaining patients are hospitalized and diagnosis is confirmed after the first 48-h period according to the METREPOL (Medical Treatment Protocols for radiation accident victims) scale. This grades the patients according to the severity of their symptoms. It was also agreed that in the case of acute radiation syndrome (ARS), emergency hematopoietic stem cell (HSC) transplantation is not necessary. Instead, cytokines that promote hematological reconstruction should be administered as early as possible for 14-21 d. Crucial tests for determining whether the patient has residual hematopoiesis are physical dose reconstructions combined with daily blood count analyses. It was agreed that HSC transplantation should only be considered if severe aplasia persists after cytokine treatment. Two recent cases of accidental radiation exposure that were managed successfully by following the European consensus with modification are reviewed here. Thus, a European standard for the evaluation and treatment of ARS victims is now available. This standard may be suitable for application around the world.

  6. [Differential diagnosis of corticobasal syndrome (CBS) and its biomarkers].

    Science.gov (United States)

    Tokuda, Takahiko

    2013-01-01

    Corticobasal degeneration (CBD) was initially thought to represent a clinicopathological entity, but recent studies have shown its considerable clinicopathological heterogeneity. Thus, the constellation of the findings initially considered characteristic of CBD is now named "corticobasal syndrome" (CBS), while the term "CBD" is used for the histopathological disorder. Multiple phenotypes associated with CBD pathology and multiple diseases associated with CBS, the latter of which are called "CBD mimickers," make the correct diagnosis of these conditions on the basis of only clinical symptoms and signs difficult. Therefore, the development of specific biomarkers for diagnosing each causative disease of CBS is extremely important. Abnormal accumulations of the microtubule-associated tau protein are found in both neurons and glia, and CBD is thus considered one of the tauopathies. Although some studies have measured total and phosphorylated tau in the CSF of patients with CBS, their results are inconclusive. Disease-specific truncation and/or phosphorylation of tau protein and its fragments in the CSF would be a promising biomarker candidate; however, its effectiveness still needs to be confirmed by further studies. Progress in biomarker development to differentiate CBD from CBD mimickers has been slow, but it is essential to improve diagnostic accuracy and to develop disease-modifying therapies.

  7. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Shiyi Guo

    2017-06-01

    Full Text Available Restless legs syndrome (RLS, a common neurological sensorimotor disorder in western countries, has gained more and more attention in Asian countries. The prevalence of RLS is higher in older people and females. RLS is most commonly related to iron deficiency, pregnancy and uremia. The RLS symptoms show a significant circadian rhythm and a close relationship to periodic limb movements (PLMs in clinical observations, while the pathophysiological pathways are still unknown. The diagnostic criteria have been revised in 2012 to improve the validity of RLS diagnosis. Recent studies have suggested an important role of iron decrease of brain in RLS pathophysiology. Dopaminergic (DA system dysfunction in A11 cell groups has been recognized long ago from clinical treatment and autopsy. Nowadays, it is believed that iron dysfunction can affect DA system from different pathways and opioids have a protective effect on DA system. Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS. Several pharmacological and non-pharmacological treatment are discussed in this review. First-line treatments of RLS include DA agents and α2δ agonists. Augmentation is very common in long-term treatment of RLS which makes prevention and management of augmentation very important for RLS patients. A combination of different types of medication is effective in preventing and treating augmentation. The knowledge on RLS is still limited, the pathophysiology and better management of RLS remain to be discovered.

  8. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management

    Science.gov (United States)

    Guo, Shiyi; Huang, Jinsha; Jiang, Haiyang; Han, Chao; Li, Jie; Xu, Xiaoyun; Zhang, Guoxin; Lin, Zhicheng; Xiong, Nian; Wang, Tao

    2017-01-01

    Restless legs syndrome (RLS), a common neurological sensorimotor disorder in western countries, has gained more and more attention in Asian countries. The prevalence of RLS is higher in older people and females. RLS is most commonly related to iron deficiency, pregnancy and uremia. The RLS symptoms show a significant circadian rhythm and a close relationship to periodic limb movements (PLMs) in clinical observations, while the pathophysiological pathways are still unknown. The diagnostic criteria have been revised in 2012 to improve the validity of RLS diagnosis. Recent studies have suggested an important role of iron decrease of brain in RLS pathophysiology. Dopaminergic (DA) system dysfunction in A11 cell groups has been recognized long ago from clinical treatment and autopsy. Nowadays, it is believed that iron dysfunction can affect DA system from different pathways and opioids have a protective effect on DA system. Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS. Several pharmacological and non-pharmacological treatment are discussed in this review. First-line treatments of RLS include DA agents and α2δ agonists. Augmentation is very common in long-term treatment of RLS which makes prevention and management of augmentation very important for RLS patients. A combination of different types of medication is effective in preventing and treating augmentation. The knowledge on RLS is still limited, the pathophysiology and better management of RLS remain to be discovered. PMID:28626420

  9. [Syndrome of inadequate ADH secretion: pitfalls in diagnosis and therapy].

    Science.gov (United States)

    Schäffler, Andreas; Lindner, Uwe

    2015-03-01

    Euvolemic hyponatremia is most frequently caused by the syndrome of inappropriate antidiuretic hormone secretion (SIADH). Causes of SIADH-induced hyponatremia are myriad and include tumors, pulmonary diseases or central nervous system disorders. SIADH can also be induced by a broad spectrum of drugs such as antidepressants and antiepileptics. The unfavorable prognostic relevance of hyponatremia is often underestimated. SIADH therapy focuses on the treatment of the underlying disease. Thus, a thorough differential diagnostic assessment of the genesis of SIADH is crucial. Therapy options for euvolemic hyponatremia include fluid restriction, administration of hyperosmolar saline solution in case of severe symptoms, or therapy with tolvaptan. Tolvaptan is a selective, oral vasopressin-V2-receptor-antagonist that inhibits ADH-induced retention of electrolyte-free water in the connecting duct of the kidney. This inhibition results in an increased serum sodium level. Close monitoring of serum sodium levels and volume status is imperative, especially during the initial phase of therapy. Fluid restriction is unnecessary during tolvaptan therapy; a previously prescribed fluid re-striction should be stopped when therapy begins. Treatment with tolvaptan can often result in a rapid and controlled improvement of the symptoms. Different cases presented in this article illustrate the diversity of SIADH in clinical practice relating to its diagnosis and its therapy as well as difficulties in identifying the underlying cause in clinical practice.

  10. Scalp hair cortisol for diagnosis of Cushing's syndrome.

    Science.gov (United States)

    Wester, Vincent L; Reincke, Martin; Koper, Jan W; van den Akker, Erica L T; Manenschijn, Laura; Berr, Christina M; Fazel, Julia; de Rijke, Yolanda B; Feelders, Richard A; van Rossum, Elisabeth F C

    2017-06-01

    Current first-line screening tests for Cushing's syndrome (CS) only measure time-point or short-term cortisol. Hair cortisol content (HCC) offers a non-invasive way to measure long-term cortisol exposure over several months of time. We aimed to evaluate HCC as a screening tool for CS. Case-control study in two academic referral centers for CS. Between 2009 and 2016, we collected scalp hair from patients suspected of CS and healthy controls. HCC was measured using ELISA. HCC was available in 43 confirmed CS patients, 35 patients in whom the diagnosis CS was rejected during diagnostic work-up and follow-up (patient controls), and 174 healthy controls. Additionally, we created HCC timelines in two patients with ectopic CS. CS patients had higher HCC than patient controls and healthy controls (geometric mean 106.9 vs 12.7 and 8.4 pg/mg respectively, P cortisol (r = 0.691, P cortisol was increased 3 and 6 months before CS became clinically apparent. Analysis of cortisol in a single scalp hair sample offers diagnostic accuracy for CS similar to currently used first-line tests, and can be used to investigate cortisol exposure in CS patients months to years back in time, enabling the estimation of disease onset. © 2017 European Society of Endocrinology.

  11. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

    Directory of Open Access Journals (Sweden)

    F.B. Scalco

    2003-10-01

    Full Text Available Smith-Lemli-Opitz syndrome (SLOS is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase, responsible for the conversion of 7-dehydrocholesterol (7-DHC to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present study, we used a simple, fast, and selective method based on ultraviolet spectrophotometry to measure 7-DHC in order to diagnose SLOS. 7-DHC was extracted serially from 200 µl plasma with ethanol and n-hexane and the absorbance at 234 and 282 nm was determined. The method was applied to negative control plasma samples from 23 normal individuals and from 6 cases of suspected SLOS. The method was adequate and reliable and 2 SLOS cases were diagnosed.

  12. Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

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    umesh chandra parashari

    2012-02-01

    Full Text Available Mucopolysaccharidosis (MPS comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism, MPS II (Hunter's syndrome, MPS III (Sanfilippo's syndrome, MPS IV (Morquio-Brailsford syndrome, MPS I-S (Scheie's syndrome and MPS VI (Maroteaux-Lamy syndrome. The Hunter type is inherited as an X-linked recessive; the others are autosomal recessive. Patients with MPS IV can usually be clinically distinguished from patients with other forms of MPS; their intelligence is unimpaired, in contrast with other forms of MPS. Husler coined the term dysostosis multiplex to describe the skeletal findings.

  13. A NORMAL BRADYSYSTOLIC FORM OF ATRIAL FIBRILLATION (FREDERICQ’S SYNDROME: LATE DIAGNOSIS AND TREATMENT

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    N. Ye. Trekina

    2014-11-01

    Full Text Available It is presented a case of delayed diagnosis brad systole against permanent atrial fibrillation (syndrome Frederick which became to syncope patient and to the later implanting of pacemaker.

  14. Antenatal diagnosis of Patau syndrome with previous anomalous baby

    OpenAIRE

    Keerthi Kocherla; Vasantha Kocherla

    2014-01-01

    Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings and gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and...

  15. Antenatal diagnosis of Patau syndrome with previous anomalous baby

    OpenAIRE

    Keerthi Kocherla; Vasantha Kocherla

    2014-01-01

    Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings and gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and...

  16. Compartment Syndrome of the Hand: A Little Thought about Diagnosis

    Science.gov (United States)

    Reichman, Eric F.

    2016-01-01

    Compartment syndrome of the forearm is a well described entity but there have been relatively few case reports in the emergency medicine literature of hand compartment syndromes (HCS). Prompt recognition and treatment of this potential limb threat are essential to minimize morbidity and mortality. Presented is a case of a documented hand compartment syndrome following a motor vehicle collision. PMID:27293917

  17. Gorlin-Goltz syndrome: An often missed diagnosis.

    Science.gov (United States)

    Thomas, Ninan; Vinod, Sankar V; George, Arun; Varghese, Aabu

    2016-01-01

    Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature.

  18. Algorithms for the diagnosis and treatment of restless legs syndrome in primary care

    Science.gov (United States)

    2011-01-01

    Background Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common. Methods The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored task force consisting of experts and primary care practioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms. Results The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS. Conclusion The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here. PMID:21352569

  19. Anterior interosseous nerve syndrome diagnosis and intraoperative findings: A case report

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    Abdulla Aljawder

    2016-01-01

    Conclusion: Clinical suspicion should arise in the presence of isolated paralysis of the AIN-supplied muscles. MRI and electrodiagnostic studies will confirm the diagnosis and identify the etiology. The optimal treatment of AIN syndrome has not been established. We recommend surgical intervention in confirmed AIN syndrome from compression neuropathy, refractive to conservative therapy.

  20. The diagnosis of Asperger syndrome: a pilot study of Czech version ASSQ and ASAS

    OpenAIRE

    Krejčířová, Helena

    2006-01-01

    In a theoretical part of the present study we describe history, epidemiology, ethiology, diagnostic classification, diagnostic criteria and clinical features of Asperger syndrome, comorbidity, theory of autism, differential diagnosis and diagnostic methods for the Asperger syndrome. A practical part of this study examines the validity and reliability of two diagnostic schedule - ASSQ - High-functioning Autism Spectrum Screening Questionnaire/Asperger Syndrome Screening Questionnaire - and ASA...

  1. Transesophageal echo diagnosis of perioperative unusual transient left ventricular apical ballooning syndrome

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    Hugo Andrés Mantilla

    2016-01-01

    Full Text Available Stress cardiomyopathy, or Takotsubo syndrome, is a widely recognized cardiac pathology with a clinical presentation similar to acute coronary syndrome and related to physical or emotional stress. Perioperatively, it is challenging to identify it given the variety of forms and scenarios in which it can present. We describe a 22-year-old patient with an atypical presentation of Takotsubo syndrome during anesthesia induction, which highlights the usefulness of transesophageal echocardiography for the initial diagnosis.

  2. Transesophageal echo diagnosis of perioperative unusual transient left ventricular apical ballooning syndrome

    Science.gov (United States)

    Mantilla, Hugo Andrés; Montes, Felix Ramón; Amaya, William F.

    2016-01-01

    Stress cardiomyopathy, or Takotsubo syndrome, is a widely recognized cardiac pathology with a clinical presentation similar to acute coronary syndrome and related to physical or emotional stress. Perioperatively, it is challenging to identify it given the variety of forms and scenarios in which it can present. We describe a 22-year-old patient with an atypical presentation of Takotsubo syndrome during anesthesia induction, which highlights the usefulness of transesophageal echocardiography for the initial diagnosis. PMID:27716708

  3. Primary headache syndromes and sinus headache: An approach to diagnosis and management.

    Science.gov (United States)

    Cashman, Emma Catherine; Smyth, David

    2012-06-01

    Chronic rhinosinusitis (CRS) and primary headache syndromes are common disease entities and headache and facial pain are common reasons for referral to otolaryngology units. Because of an association of nasal symptoms with primary headache syndromes and considerable similarities in their clinical presentations, primary headache syndromes may be misdiagnosed as sinus disease and vice versa. In this review we examine the evidence on which otolaryngologists can base clinical diagnosis and management and offer an approach to distinguishing these common clinical entities.

  4. Differential diagnosis of myelodysplastic syndrome and aplastic anemia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Seung Eun; Park, Jung Mi; Lee, Jae Mun; Kim, Ki Tae; Kim, Dong Wook; Kim, Chun Choo; Kim, Chun Yul; Shinn, Kyung Sub [Catholic University Medical College, Seoul (Korea, Republic of)

    1995-04-15

    To assess the patterns of myelodysplastic syndrome (MDS) and aplastic anemia (AA) on MRI of the spinal bone marrow and to find the differential points between the two groups. Fourteen patients with MDS (n=7) and AA (n=7) were studied using magnetic resonance imaging. Sagittal images from the lower thoracic and lumbar vertebral marrow were evaluated on T1-weighted and STIR images. Five distinct patterns of signal intensity of the T1-weighted and STIR images were classified. T1 and T2 relaxation times and T1 marrow/fat signal intensity ratio were measured and analyzed (t-test). The cellularity of bone marrow was evaluated on histologic slides. MDS showed homogeneously low signal intensity on T1WI and high signal intensity on STIR image, indicating hypercellular marrow, whereas AA showed relative high signal intensity on T1WI and low signal intensity on STIR image, representing fatty marrow. T1 and T2 relaxation time (T1 for MDS=750.26 msec {+-} 177.50, T1 for AA=413.21 msec {+-} 167.39 ({rho} < 0.000), T2 for MDS=91.86 msec {+-} 14.16, T2 for AA=81.44 msec {+-} 15.31 ({rho} < 0.001) and T1 marrow/fat signal intensity ratio (0.22 {+-} 0.048 in MDS, 0.30 {+-} 0.083 in AA ({rho} < 0.000) revealed statistically significant difference between the two groups. Although the marrow aspiration and needle biopsy are mandatory in hematologic disease for diagnosis, there are limited in assessing the change of total marrow mass. Therefore MRI of bone marrow might be useful in distinguishing MDS from AA because of its ability of representation of total marrow mass.

  5. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    OpenAIRE

    Md Abu Bakar Siddiq; Moshiur Rahman Khasru; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis m...

  6. ON DIFFERENTIAL DIAGNOSIS BETWEEN AUTISTIC DISORDER AND ASPERGER’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Stefan Todorov

    2012-11-01

    Full Text Available The differential diagnosis between Autistic disorder (AD and Asperger’s syndrome (AS in most cases is quite difficult since most of the symptoms are clinically undistinguished. Several factors complicate the diagnosis of AS- an autism spectrum disorder (ASD. It is considered by some authors to be simply a milder version of autistic disorder. Problems in diagnosis include disagreement among diagnostic criteria, controversy over the distinction between AS and other ASD forms or even whether AS exists as a separate syndrome, and over- and under-diagnosis. Our paper is based on the diagnostic and differential diagnostic criteria of DSM-IV, ICD-10 and our clinical experience.In the process of diagnosis and differential diagnosis we, naturally, illustrate and discuss the similarities and differences between the two disorders.

  7. Antenatal diagnosis of Patau syndrome with previous anomalous baby

    Directory of Open Access Journals (Sweden)

    Keerthi Kocherla

    2014-06-01

    Full Text Available Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings and gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and monoamniotic twins who died at 14 weeks of gestation. [Int J Res Med Sci 2014; 2(3.000: 1172-1175

  8. Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

    OpenAIRE

    Ahmed, Kiran Jan; Ahmed, Mushtaq; Jafri, Hussain S; Raashid, Yasmin; Ahmed, Shenaz

    2014-01-01

    Down syndrome (DS) is a relatively common chromosomal condition, which can be diagnosed prenatally. However, little is known about the diagnosis of the condition in developing countries. This qualitative study explored parents’ experiences of the diagnosis of DS in Pakistan. Fifteen mothers and fifteen fathers of children with DS had semi-structured interviews, which were analysed using thematic analysis. All the parents received their child’s diagnosis after birth, ranging from the postnatal...

  9. Improving the understanding of Takotsubo syndrome: consequences of diagnosis and treatment.

    Science.gov (United States)

    Tanabe, Yasuhiro; Akashi, Yoshihiro J

    2016-06-01

    Takotsubo syndrome was first described in Japan in 1990. Although it has gained worldwide recognition in the last 25 years, the pathophysiology of Takotsubo syndrome remains controversial. This syndrome is often reported in elderly postmenopausal women suffering from sudden, unexpected emotional and physical stress. Its clinical presentation resembles that of acute myocardial infarction. The prognosis of Takotsubo syndrome was initially considered favorable compared with that of myocardial infarction; however, subsequent studies have demonstrated that the mortality was higher than previously reported. Prompt diagnosis followed by appropriate management for acute complications such as heart failure, arrhythmia, intraventricular thrombus, and left ventricular outflow tract obstruction is required. We discuss the current knowledge on Takotsubo syndrome to facilitate optimal diagnosis and treatment.

  10. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

    Science.gov (United States)

    Yapar, E G; Ekici, E; Dogan, M; Gökmen, O

    1996-10-01

    Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

  11. Hypersensitivity to G/sub 2/ chromatid radiation damage in familial dysplastic naevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sanford, K.K.; Tarone, R.E.; Parshad, Ram; Tucker, M.A.; Greene, M.H.; Jones, G.M.

    1987-11-14

    Skin fibroblasts from 25 members of nine kindreds with familial dysplastic naevus syndrome (DNS), 12 apparently normal spouses, and 11 additional unrelated normal individuals were tested for G/sub 2/ cell-cycle phase sensitivity to ionising radiation. The cells from individuals with DNS or hereditary cutaneous malignant melanoma with DNS (HCMM/DNS) had significantly more chromatid breaks and gaps when entering metaphase 0.5-1.5 h after G/sub 2/ phase X-irradiation (1 Gy) than those from unaffected controls. In two cases, the test results positively identified individuals before the clinical diagnosis of DNS. A clinically normal obligate carrier of the HCMM/DNS gene showed the enhanced G/sub 2/ radiosensitivity. Moreover, in a test on 1 proband, the sensitivity was apparent in peripheral blood lymphoblasts. Enhanced G/sub 2/ chromatid radiosensitivity may be a marker of genetic susceptibility to HCMM/DNS.

  12. Guideline for diagnosis and treatment of subacromial pain syndrome

    NARCIS (Netherlands)

    Diercks, Ronald; Bron, Carel; Dorrestijn, Oscar; Meskers, Carel; Naber, René; de Ruiter, Tjerk; Willems, Jaap; Winters, Jan; van der Woude, Henk Jan

    2014-01-01

    Treatment of "subacromial impingement syndrome" of the shoulder has changed drastically in the past decade. The anatomical explanation as "impingement" of the rotator cuff is not sufficient to cover the pathology. "Subacromial pain syndrome", SAPS, describes the condition better. A working group for

  13. Guideline for diagnosis and treatment of subacromial pain syndrome

    NARCIS (Netherlands)

    Diercks, Ronald; Bron, Carel; Dorrestijn, Oscar; Meskers, Carel; Naber, René; de Ruiter, Tjerk; Willems, Jaap; Winters, Jan; van der Woude, Henk Jan

    2014-01-01

    Treatment of "subacromial impingement syndrome" of the shoulder has changed drastically in the past decade. The anatomical explanation as "impingement" of the rotator cuff is not sufficient to cover the pathology. "Subacromial pain syndrome", SAPS, describes the condition better. A working group for

  14. Guideline for diagnosis and treatment of subacromial pain syndrome

    NARCIS (Netherlands)

    Diercks, Ronald; Bron, Carel; Dorrestijn, Oscar; Meskers, Carel; Naber, René; de Ruiter, Tjerk; Willems, Jaap; Winters, Jan; van der Woude, Henk Jan

    Treatment of "subacromial impingement syndrome" of the shoulder has changed drastically in the past decade. The anatomical explanation as "impingement" of the rotator cuff is not sufficient to cover the pathology. "Subacromial pain syndrome", SAPS, describes the condition better. A working group

  15. Reliability of the Eight Guiding Principles and Syndrome Diagnosis in Chinese Medicine Diagnosis of Patients with Knee Osteoarthritis.

    Science.gov (United States)

    Hua, Bin; Abbas, Estelle; Hayes, Alan; Ryan, Peter F; Nelson, Lisa; O'Brien, Kylie

    2012-08-21

    Abstract Background: A Chinese medicine (CM) "Syndrome" or "pattern of disharmony" is a diagnostic subcategory of a disease/disorder or symptom, characterized by particular symptoms and signs, and indicative of the etiology and the state of pathogenesis at that point in time. In CM, treatment is aimed at addressing the disease/disorder and the underlying CM Syndrome. A few studies have assessed reliability of CM Syndrome diagnosis according to one of the major CM theories, Zang-Fu theory, but only 1 study has investigated the reliability of diagnosis according to a fundamental theory, that of the Eight Guiding Principles. Given that treatment follows diagnosis, if diagnosis is not reliable there will be lower confidence that optimal treatment is received. There have not yet been any reliability studies in osteoarthritis (OA). Little is known about the characteristics or Syndromes of OA with respect to the Eight Guiding Principles and Zang-Fu theory. Objectives: The objectives of this study were to characterize diagnostic subcategories of OA according to the Eight Guiding Principles and Zang-Fu theory and to investigate the inter-rater reliability of CM diagnosis according to these two theories. Methods: An inter-rater reliability study was conducted as a substudy of a clinical trial investigating the treatment of knee OA with Chinese herbal medicine. Two (2) experienced CM practitioners conducted a CM examination separately, within 2 hours of each other, of 40 participants. A CM assessment form was utilized to record the diagnostic data. Cohen's κ coefficient was used as a measure of reliability. Results: Results support the concept that knee OA is more likely a disease with characteristics of Interior, Deficiency, and Yin according to the Eight Guiding Principles. There was no clear agreement on CM Syndromes of knee OA according to Zang-Fu theory. The main Zang Organs involved were broadly agreed on; they were Kidney, Liver, and Spleen. Conclusions: Results lend

  16. [Prevalence and Comorbidity of Self-Reported Diagnosis of Burnout Syndrome in the General Population].

    Science.gov (United States)

    Maske, Ulrike E; Riedel-Heller, Steffi G; Seiffert, Ingeburg; Jacobi, Frank; Hapke, Ulfert

    2016-01-01

    To determine the prevalence and comorbid mental disorders of self-reported diagnosis of burnout syndrome in the general population of Germany. In the German Health Interview and Examination Survey (DEGS1) self-reported diagnosis of a burnout syndrome made by a physician or psychotherapist was assessed in a standardized interview (N = 7987). For N = 4483 mental disorders were determined with the Composite International Diagnostic Interview (CIDI). Weighted lifetime and 12-month prevalences were calculated. Lifetime prevalence of diagnosed burnout syndrome was 4.2 % (women 5.2 %, men 3.3 %), 12-month prevalence was 1.5 % (women 1.9 %, men 1.1 %). Highest prevalences were found in 40 - 59 year olds, in people with middle and high socio economic status and in women with low and men with high social support. Among the 12-month cases, 70.9 % had at least one DSM-IV disorder. Associations were found for the diagnosis of burnout syndrome with somatoform, affective and anxiety disorders. The diagnosis of burnout syndrome is less frequently given and reported than expected. People with a burnout diagnosis often have a manifest mental disorder. © Georg Thieme Verlag KG Stuttgart · New York.

  17. Acute coronary syndrome: emerging tools for diagnosis and risk assessment

    National Research Council Canada - National Science Library

    Scirica, Benjamin M

    2010-01-01

    .... Although there are many established tools for diagnosis, prognosis, and clinical decision making, understanding the advantages and limitations of each tool according the clinical scenario is essential...

  18. [Ultrasonic diagnosis of radiation injuries of the urinary system].

    Science.gov (United States)

    Mukhamedzhanov, I Kh; Kiseleva, M V; Kurpesheva, A K; Poltorakov, A M

    1991-01-01

    The paper is concerned with the results of ultrasound investigation of the kidneys and bladder in 78 patients with radiation injuries of pelvic tissues and organs. Comparison of the results of USI, isotope renography and excretory urography has shown that with an increase in the gravity of injury of the urinary system, the frequency of ultrasound findings rises from 60.8% in renal dysfunction of a mean gravity up to 91.2% in severe disorders. Echography data on the presence of hydronephrosis, pyelocaliectasis, a granular kidney, pyelonephritis, and nephroptosis usually coincided with the results of excretory urography in these patients. A combined use of echography and renography permits obtaining in most cases necessary data on structural and functional disorders of the urinary tracts. Echographic semiotics of radiation cystitis was studied in detail versus cystoscopy data. The informative value of ultrasound scanning of the bladder was observed in patients with radiation cystitis.

  19. Impact of copeptin on diagnosis of acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Zeinab H. El Sayed

    2014-07-01

    Conclusion: In suspected acute coronary syndrome, determination of copeptin and cardiac troponin I provides a remarkable negative predictive value, which aids in early and safe ruling out of myocardial infarction.

  20. [Diagnosis and etiology of Asperger syndrome in children and adolescents].

    Science.gov (United States)

    Kamp-Becker, Inge; Mattejat, Fritz; Remschmidt, Helmut

    2004-01-01

    The Asperger-Syndrom is a pervasive developmental disorder, characterized by impairments in primarily social and communicative competence, empathy, associated with motor awkwardness and/or clumsiness and highly circumscribed interests. The diagnostic criteria and the diagnostic methods are in detail exemplified. While the validity of autism (Kanner-syndrom) has been shown through multiple different levels of evidence, the validity of Asperger-Syndrom is still unestablished. The few literature is extremely difficult to summarize (Volkmar u. Klin 2000), given that a range of important methodological issues render comparability of findings across studies virtually impossible: these include differences in definition and circularity in definition relative to validating measures. In terms of causes of Asperger-Syndrom the following factors are discussed: genetic reasons, neurobiological disturbances and neuropsychological deficits.

  1. [Lemierre's syndrome as differential diagnosis of lung cancer].

    Science.gov (United States)

    Reinholdt Jensen, Jacob; Weinreich, Ulla Møller

    2012-05-28

    Lemierre's syndrome is a disseminated infection which is usually caused by Fusobacterium necrophorum. An oropharyngeal infection progresses to a septic thrombophlebitis of the internal jugular vein and later metastatic infections throughout the body occur. We present a clinical case in which a patient, initially presenting with symptoms characteristic of pulmonary cancer, turned out to have a rare variant of Lemierre's syndrome caused by Fusobacterium nucleatum.

  2. Sudden infant death syndrome: methodological and patogenetical types of diagnosis

    Directory of Open Access Journals (Sweden)

    B.I. Glukhovets

    2011-01-01

    Full Text Available The review presents an analysis of literature data on pathogenesis of sudden infant death syndrome (SIDS in comparison with author’s experience of infants dead in home. Diagnostic significance of qualified autopsy examinations in analysis of infants’ death is shown. Frequent combination of morphogenetic cardiopathy and early signs of atrial myocarditis can be estimated as pathogenetic basis of SIDS.Key words: sudden infant death syndrome, morphogenetic cardiopathy, atrial myocarditis.

  3. ANTIPHOSPHOLIPID SYNDROME: DIAGNOSIS AND CLINICAL MANIFESTATIONS (A LECTURE)

    OpenAIRE

    Tat’yana M Reshetnyak

    2014-01-01

    The lecture provides information about the etiology and pathogenesis of antiphospholipid syndrome (APS) and genetic susceptibility to its development. The most recent international diagnostic criteria for APS and its variants have been reported. This syndrome can affect multiple organ systems depending on localization of thrombosis; therefore, nowadays the problem of APS is multidisciplinary. Clinical manifestations of APS are rather general (thrombosis of different localization); thus, the d...

  4. Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update

    Science.gov (United States)

    De Blasi, Roberto; Grasso, Daniela; Savica, Rodolfo

    2016-01-01

    Brain magnetic resonance (MR) represents a useful and feasible tool for the differential diagnosis of Parkinson's disease. Conventional MR may reveal secondary forms of parkinsonism and may show peculiar brain alterations of atypical parkinsonian syndromes. Furthermore, advanced MR techniques, such as morphometric-volumetric analyses, diffusion-weighted imaging, diffusion tensor imaging, tractography, proton MR spectroscopy, and iron-content sensitive imaging, have been used to obtain quantitative parameters useful to increase the diagnostic accuracy. Currently, many MR studies have provided both qualitative and quantitative findings, reflecting the underlying neuropathological pattern of the different degenerative parkinsonian syndromes. Although the variability in the methods and results across the studies limits the conclusion about which technique is the best, specific radiologic phenotypes may be identified. Qualitative/quantitative MR changes in the substantia nigra do not discriminate between different parkinsonisms. In the absence of extranigral abnormalities, the diagnosis of PD is more probable, whereas basal ganglia changes (mainly in the putamen) suggest the diagnosis of an atypical parkinsonian syndrome. In this context, changes in pons, middle cerebellar peduncles, and cerebellum suggest the diagnosis of MSA, in midbrain and superior cerebellar peduncles the diagnosis of PSP, and in whole cerebral hemispheres (mainly in frontoparietal cortex with asymmetric distribution) the diagnosis of Corticobasal Syndrome. PMID:27774334

  5. Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update

    Directory of Open Access Journals (Sweden)

    Giovanni Rizzo

    2016-01-01

    Full Text Available Brain magnetic resonance (MR represents a useful and feasible tool for the differential diagnosis of Parkinson’s disease. Conventional MR may reveal secondary forms of parkinsonism and may show peculiar brain alterations of atypical parkinsonian syndromes. Furthermore, advanced MR techniques, such as morphometric-volumetric analyses, diffusion-weighted imaging, diffusion tensor imaging, tractography, proton MR spectroscopy, and iron-content sensitive imaging, have been used to obtain quantitative parameters useful to increase the diagnostic accuracy. Currently, many MR studies have provided both qualitative and quantitative findings, reflecting the underlying neuropathological pattern of the different degenerative parkinsonian syndromes. Although the variability in the methods and results across the studies limits the conclusion about which technique is the best, specific radiologic phenotypes may be identified. Qualitative/quantitative MR changes in the substantia nigra do not discriminate between different parkinsonisms. In the absence of extranigral abnormalities, the diagnosis of PD is more probable, whereas basal ganglia changes (mainly in the putamen suggest the diagnosis of an atypical parkinsonian syndrome. In this context, changes in pons, middle cerebellar peduncles, and cerebellum suggest the diagnosis of MSA, in midbrain and superior cerebellar peduncles the diagnosis of PSP, and in whole cerebral hemispheres (mainly in frontoparietal cortex with asymmetric distribution the diagnosis of Corticobasal Syndrome.

  6. Prenatal Diagnosis and Pathology of Laryngeal Atresia in Congenital High Airway Obstruction Syndrome

    Directory of Open Access Journals (Sweden)

    Piya Chaemsaithong

    2012-01-01

    Full Text Available Congenital high airway obstruction syndrome is a rare but life-threatening condition. Therefore, prenatal diagnosis is important. The obstruction can be due to laryngeal/tracheal atresia or external compression. While a differential diagnosis with congenital cystic adenomatoid malformation (CCAM type III may be difficult, it is still possible with ultrasonography. In this study, we report a case of bilateral echogenic lungs with hydrops fetalis. After the prenatal diagnosis of laryngeal atresia, the couple opted to have an elective termination of pregnancy performed at 20 weeks of gestation. The diagnosis was confirmed by a complete pathological examination.

  7. Saliva as a potential tool for diagnosis of dry mouth including Sjögren's syndrome.

    Science.gov (United States)

    Ohyama, K; Moriyama, M; Hayashida, J-N; Tanaka, A; Maehara, T; Ieda, S; Furukawa, S; Ohta, M; Imabayashi, Y; Nakamura, S

    2015-03-01

    Recently, the use of saliva as a diagnostic tool has gained considerable attention because it is non-invasive and easy to perform repeatedly. In this study, we focused on soluble molecules in saliva to establish a new diagnostic method for xerostomia. Saliva was obtained from 90 patients with Sjögren's syndrome (SS), 22 patients with xerostomia associated with neurogenic/neuropsychiatric disorders and drugs (XND), 30 patients with radiation-induced xerostomia (RX), and 36 healthy controls. Concentrations of helper T (Th) cytokines in saliva were measured by flow cytometric analysis. Concentrations of secretory IgA (SIgA) and chromogranin A (CgA) were measured by ELISA. Unstimulated and stimulated whole saliva from patients with SS, XND, and RX was significantly reduced compared with controls. Th1 and Th2 cytokines from SS patients were significantly higher than controls. Furthermore, Th2 cytokines were closely associated with strong lymphocytic accumulation in salivary glands from SS patients, while Th1 and Th17 cytokines were negatively associated. SIgA levels were not significantly different between all patient groups and controls. CgA levels from XND patients were significantly higher than controls. The measurement of cytokines, CgA, and SIgA in saliva is suggested to be useful for the diagnosis of xerostomia and also to reveal disease status. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Nuclear imaging for the Cushing's syndrome etiological diagnosis; Les scintigraphies des etiologies du syndrome de Cushing

    Energy Technology Data Exchange (ETDEWEB)

    Nocaudie, M. [Centre Hospitalier Universitaire, 59 - Lille (France). Service central de medecine nucleaire et imagerie fonctionnelle

    2000-11-01

    Etiologic diagnosing of a Cushing's syndrome relies upon the probabilities of the various causes of the pathologies. It takes advantage of the hormonal determinations to establish the mechanism of the hyper-secretion and of the radiological examination to detect morphological abnormalities. The scinti-scans are useful at this time only, to locate hyper-functioning tissue, to guide its resection and to suggest alternative option, either pharmaceutical or radio-metabolic. In the ACTH-independent Cushing's syndrome, noriodocholesterol scintigraphy can indicate that the adrenocortical hyper-functioning is unilateral or that it is bilateral. In the ACTH-dependent Cushing's syndrome, the current somatostatin radio-analogs have not proven their efficiency in pituitary ACTH-producing tumours but they are useful in the diagnosis and the management of bronchial carcinoids as of other neuro-endocrine tumors with the para-neoplastic Cushing's syndrome. (author)

  9. Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders

    Institute of Scientific and Technical Information of China (English)

    GAO Ling-gen; YAO Xiu-ping; ZHANG Lin; HUI Ru-tai; ZHOU Xian-liang

    2011-01-01

    Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. The continuing improvements in molecular biology and increasing availability of molecular diagnosis in clinical practice allow recognition of Marfan syndrome in patients with incomplete phenotypes. Additionally, molecular analyses could also be used for preimplantation genetic diagnosis. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening.

  10. Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Aydin Canpolat

    2014-01-01

    Full Text Available Chiari malformation Type I (CM-I related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon′s syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I.

  11. Current concepts in the pathophysiology, evaluation, and diagnosis of compartment syndrome

    Science.gov (United States)

    Hargens, A. R.; Mubarak, S. J.

    1998-01-01

    This article reviews present knowledge of the pathophysiology and diagnosis of acute compartment syndromes. Recent results using compression of legs in normal volunteers provide objective data concerning local pressure thresholds for neuromuscular dysfunction in the anterior compartment. Results with this model indicate that a progression of neuromuscular deficits occurs when IMP increases to within 35 to 40 mm Hg of diastolic blood pressure. These findings provide useful information on the diagnosis and compression thresholds for acute compartment syndromes. Time factors are also important, however, and usually are incompletely known in most cases of acute compartment syndrome. Although the slit catheter is a very good technique for monitoring IMP during rest, these catheters and their associated extracorporeal transducer systems are not ideal. Recently developed miniature transducer-tipped catheters and, perhaps, future development of noninvasive techniques may provide accurate recordings of IMP in patients with acute compartment syndromes.

  12. Granulocyte Colony-Stimulating Factor in the Treatment of Acute Radiation Syndrome: A Concise Review

    Directory of Open Access Journals (Sweden)

    Michal Hofer

    2014-04-01

    Full Text Available This article concisely summarizes data on the action of one of the principal and best known growth factors, the granulocyte colony-stimulating factor (G-CSF, in a mammalian organism exposed to radiation doses inducing acute radiation syndrome. Highlighted are the topics of its real or anticipated use in radiation accident victims, the timing of its administration, the possibilities of combining G-CSF with other drugs, the ability of other agents to stimulate endogenous G-CSF production, as well as of the capability of this growth factor to ameliorate not only the bone marrow radiation syndrome but also the gastrointestinal radiation syndrome. G-CSF is one of the pivotal drugs in the treatment of radiation accident victims and its employment in this indication can be expected to remain or even grow in the future.

  13. [Piriformis muscle syndrome: etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2013-01-01

    The term 'piriformis syndrome' (PS), introduced by Robinson in 1947, implies a group of signs and symptoms caused by piriformis muscle (PM) disorders. Since PM disorders lead to irritation/compression of the anatomic structures passing under its belly, the main clinical PS signs and symptoms are actually the clinical signs and symptoms of irritation/ compression of neural and vascular structures passing through the infrapiriform foramen: sciatic nerve/SN, inferior gluteal nerve, posterior femoral cutaneous nerve, pudendal nerve, inferior gluteal artery and vein and inferior pudendal artery and vein. The clinical picture is usually dominated by signs and symptoms of irritation/compression of SN (SN irritation --> low back and buttock pain, sciatica,paresthesias in distribution of SN; SN compression --> low back and buttock pain,sciatica, paresthesias and neurologic deficit in distribution of SN). Irritation/compression of other structures can result in the following signs and symptoms: inferior gluteal nerve --> atrophy of gluteal muscles; posterior femoral cutaneous nerve --> pain, paresthesias and sensory disturbances in the posterior thigh; pudendal nerve --> pudendal neuralgia, painful sexual intercourse (dyspareunia), sexual dysfunction, urination and defecation problems; inferior gluteal artery --> ischemic buttock pain; inferior pudendal artery --> ischemic pain in the area of external sex organs, perineum and rectum, sexual dysfunction, urination and defecation problems; inferior gluteal vein --> venous stasis in gluteal area; inferior pudendal vein --> venous stasis in external sex organs and rectum. Functional/non-organic and organic PM disorders can cause PS: spasm, shortening, hypertrophy, anatomic variations, edema, fibrosis, adhesions, hematoma, atrophy, cyst, bursitis, abscess, myositis ossificans, endometriosis, tumors (functional disorders: PM spasm and shortening). The most common causes for PS are PM spasm, shortening and hypertrophy and anatomic

  14. An Approach to Differential Diagnosis of Antiphospholipid Antibody Syndrome and Related Conditions

    OpenAIRE

    Giacomo Emmi; Elena Silvestri; Danilo Squatrito; Lucia Ciucciarelli; Anna Maria Cameli; Gentian Denas; Mario Milco D’Elios; Vittorio Pengo; Lorenzo Emmi; Domenico Prisco

    2014-01-01

    The antiphospholipid antibody syndrome is a systemic, acquired, immune-mediated disorder characterized by episodes of venous, arterial, or microcirculation thrombosis and/or pregnancy abnormalities, associated with the persistent presence of autoantibodies, confirmed at least in two occasions 12 weeks apart, directed to molecular complexes consisting of phospholipids and proteins. Antiphospholipid antibody syndrome should always be considered as a potential diagnosis especially for young pati...

  15. [Exploration on syndrome differentiation standardization of Chinese medicine diagnosis and treatment].

    Science.gov (United States)

    Yu, Wen-ya; Lu, Ai-ping; Han, Xue-jie

    2011-10-01

    The syndrome differentiation standardization of Chinese medicine and treatment technologies is the premise of Chinese medicine's entry into the world. But its individualized diagnosis and therapeutic features are contrary to the specification of standardization. The achievement and existent problems in syndrome differentiation standardization of Chinese medicine and treatment technologies were summarized in this paper. The thinking ways and recommendations to solve were proposed as well.

  16. Diagnosis of compartment syndrome using a microwave-based detector

    Science.gov (United States)

    Ling, Geoffrey S. F.; Riechers, Ronald G., Sr.; Pasala, Krishna M.; Blanchard, Jeremy; Rosner, Michael; Jarell, Abel; Yun, Catherine; Garcia-Pinto, Patricia; Song, Ki-Il; Day, Keith; Riechers, Ronald G., Jr.; Zeidman, Seth M.; Rhee, Peter; Ecklund, James M.; Fitzpatrick, Thomas; Lockhart, Stephen

    2002-07-01

    A novel method for identifying compartment syndrome is presented. This method is based on a novel device that uses electromagnetic waves in the microwave radio frequency (RF) region and a modified algorithm previously used for the estimation of the angle of arrival of radar signals. In this study, we employ this radio frequency triage tool (RAFT) to the clinical condition of compartment syndrome, which is a clinical condition where blood or edema in the muscle compartment of the leg leads to critical sichemia of that exptremity. In anesthetized pigs, RAFT, can detect changes in the RF signature from a leg is due to 2cc or greater of either blood or slaine (a surrogate of edema). These results are compared to clinical examination. RAFT is superior to clinical examination in its ability to detect compartment syndrome in pgis.

  17. First Report of Preoperative Imaging Diagnosis of a Surgically Confirmed Case of Valentino′s Syndrome

    Directory of Open Access Journals (Sweden)

    Parag Suresh Mahajan

    2014-01-01

    Full Text Available Perforation of a duodenal ulcer (DU into the retroperitoneal space presenting with clinical features of acute appendicitis is known as Valentino′s syndrome. Post duodenal perforation, the gastric and duodenal fluids tend to settle in the right paracolic gutter causing peritonitis and clinically mimicking acute appendicitis. Only three cases of Valentino′s syndrome have been reported till date in the published literature and there is only one previous report of its preoperative imaging diagnosis. To our knowledge, this is the first reported case of preoperative imaging diagnosis in a surgically confirmed case of Valentino′s syndrome. In most cases, patients with undiagnosed Valentino′s syndrome are operated for acute appendicitis, and on finding a normal appendix, search is made for the cause of peritonitis, which then leads to retroperitoneal perforation of duodenum. The diagnosis of Valentino′s syndrome by computed tomography (CT imaging is easy and can help in avoiding the surgery or directing the surgeon directly to the repair of the duodenal perforation. It is, therefore, essential for emergency physicians, surgeons, and radiologists to know about this entity and consider it in the differential diagnosis.

  18. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    Energy Technology Data Exchange (ETDEWEB)

    Estroff, Judy A. [Harvard Medical School, Fetal-Neonatal Radiology, Boston, MA (United States); Children' s Hospital Boston, Advanced Fetal Care Center, Department of Radiology, Boston, MA (United States)

    2012-01-15

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  19. Compartment syndrome: diagnosis, management, and unique concerns in the twenty-first century.

    Science.gov (United States)

    Garner, Matthew R; Taylor, Samuel A; Gausden, Elizabeth; Lyden, John P

    2014-07-01

    Compartment syndrome is an elevation of intracompartmental pressure to a level that impairs circulation. While the most common etiology is trauma, other less common etiologies such as burns, emboli, and iatrogenic injuries can be equally troublesome and challenging to diagnose. The sequelae of a delayed diagnosis of compartment syndrome may be devastating. All care providers must understand the etiologies, high-risk situation, and the urgency of intervention. This study was conducted to perform a comprehensive review of compartment syndrome discussing etiologies, risk stratification, clinical progression, noninvasive and invasive monitoring, documentation, medical-legal implication, and our step-by-step approach to compartment syndrome prevention, detection, and early intervention. A literature search was performed using the PubMed Database and the following search terms: "Compartment syndrome AND Extremity," "Compartment syndrome AND Gluteal," and Compartment syndrome AND Paraspinal." A total of 2,068 articles were identified. Filters allowed for the exclusion of studies not printed in English (359) and those focusing on exertional compartment syndrome (84), leaving a total of 1,625 articles available for review. The literature provides details regarding the etiologies, risk stratification, clinical progression, noninvasive and invasive monitoring, documentation, medical-legal implication, and our step-by-step approach to compartment syndrome prevention, detection, and early intervention. The development and progression of compartment syndrome is multifactorial, and as complexity of care increases, the opportunity for the syndrome to be missed is increased. Recent changes in the structure of in-hospital medical care including resident work hour restrictions and the incorporation of midlevel providers have increased the frequency of "signouts" or "patient handoffs" which present opportunities for the syndrome to be mismanaged. The changing dynamics of the health

  20. Image diagnosis in snapping syndromes; Diagnostico por imagem nas sindromes do estalido ou do ressalto

    Energy Technology Data Exchange (ETDEWEB)

    Silva, Henrique Ribeiro da [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Hospital das Clinicas; Simao, Marcelo Novelino [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Hospital das Clinicas. Servico de Radiodiagnostico; Elias Junior, Jorge; Muglia, Valdair Francisco; Nogueira-Barbosa, Marcello Henrique [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Hospital das Clinicas. Centro de Ciencias das Imagens e Fisica Medica]. E-mail: marcello@fmrp.usp.br

    2009-01-15

    Snapping syndromes occur during certain movements in several joints and may be accompanied by local pain and crepitation or audible snapping sensation. Snapping joints may eventually have no pathologic significance and in this case no treatment is required. There is an array of intra- and extra-articular causes of snapping syndrome and the lack of precise clinical findings impairs the definition of the most appropriate imaging method to confirm the diagnosis. The present study is aimed at discussing the most frequent causes of snapping syndrome in different joints, emphasizing the indications and limitations of each of the different diagnostic methods in specific situations of the clinical practice. (author)

  1. Traditional Chinese medicine in diagnosis and treatment of fibromyalgia syndrome.

    Science.gov (United States)

    Aliyev, R; Vieth, T; Geiger, G

    2010-11-01

    Fibromyalgia Syndrome (FS) is known for the difficulties arising from classification. The accompanying pain in skeletal muscles, myofascial peri-articular structures and a number of polymorphic symptoms cannot be separated into complexes of symptoms. The application of principles of Traditional Chinese Medicine (TCM) helps in analyzing the symptoms of FS to detect a leading syndrome and thereby establish an individual therapy. Medical histories and objective examinations of 25 patients with FS and 22 patients with vertebrogenic pain syndromes were analyzed according to TCM. A questionnaire was used to determine the leading constitutional type according to the 5-elements-theory. Analyses of the results showed that 83% of patients with FS were of constitutional type of the element earth. The following syndromes were found to be important in FS: 1) liver-Qi-stagnation, 2) Yin and blood deficiency of the liver, 3) Yang-weakness of the spleen and kidney, 4) Yin-weakness of the kidney. Applying TCM for FS allows for separating a group of symptoms and thus individual therapy. The determination of the constitutional type according to the 5-elements-theory may be used for a better understanding of the disharmony pattern.

  2. Birt-Hogg-Dube syndrome: diagnosis and management

    DEFF Research Database (Denmark)

    Menko, F.H.; Steensel, M.A. van; Giraud, S.

    2009-01-01

    Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein...

  3. Neuropsychological Evaluation in the Diagnosis and Treatment of Tourette's Syndrome

    Science.gov (United States)

    Osmon, David C.; Smerz, Jessica M.

    2005-01-01

    The neurobiological basis of Tourettes syndrome is reviewed for the purpose of presenting a clinically relevant account of the neuropsychology of the disorder for the clinician who is behaviorally oriented. The neuropathology and neuropsychological deficits typically found in Tourettes are reviewed, and a neuropsychological test battery is…

  4. Sjogren's Syndrome in Older Patients Aetiology, Diagnosis and Management

    NARCIS (Netherlands)

    Moerman, Rada V.; Bootsma, Hendrika; Kroese, Frans G. M.; Vissink, Arjan

    2013-01-01

    Sjogren's syndrome (SS) is a systemic autoimmune disease, characterized by chronic inflammation of exocrine glands that results in development of xerostomia and keratoconjunctivitis sicca. The disease activity of SS is not restricted to exocrine glands, and many other organs and organ systems can be

  5. Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

    Science.gov (United States)

    Berg, Jonathan S; Potocki, Lorraine; Bacino, Carlos A

    2010-05-01

    Details on the phenotypic consequences of genomic microdeletions and microduplications are rapidly emerging in the wake of increased utilization of high-resolution methods for the detection of genomic copy number variants (CNVs). Due to their recent discovery, the complete phenotypic characterization of these syndromes is still in progress. For practicing clinicians, this unprecedented molecular diagnostic capability has in many cases outpaced our ability to convey conclusive information regarding these conditions to patients and family members. In particular, genomic microduplication syndromes are frequently associated with variable phenotypes and incomplete penetrance, leading to difficulty in counseling regarding the potential future consequences of a given microduplication. In this review, we have attempted to provide an initial set of recommendations for the management of patients with recurrent microduplication syndromes. We summarize the clinical information for microduplications of 14 different genomic regions and provide a framework for clinical evaluation and anticipatory guidance in these conditions. It is our expectation that these preliminary guidelines will be revised further for each microduplication syndrome as more information becomes available.

  6. Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.

    Science.gov (United States)

    Mohamed, Sarar; Ibrahim, Fatima; Kamil, Kameel; Satti, Satti A

    2012-01-01

    Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. We report on a Sudanese patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 25 weeks of gestation.

  7. Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury

    OpenAIRE

    Lauren Surdyke; Jennifer Fernandez; Hannah Foster; Pamela Spigel

    2017-01-01

    Locked-in syndrome (LIS) is a rare diagnosis in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. It is clinically difficult to differentiate from other similarly presenting diagnoses with no standard approach for assessing such poorly responsive patients. The purpose of this case is to highlight the clinical differential diagnosis process and outcomes of a patient with LIS during acute inpatient rehabilitation. A 32-year-old female was admitted following tr...

  8. Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

    Science.gov (United States)

    Ciana, G.; Fertz, M. C.; Pecile, V.; Demarini, S.

    2011-01-01

    Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS. PMID:22606524

  9. Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

    Directory of Open Access Journals (Sweden)

    G. Ciana

    2011-01-01

    Full Text Available Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.

  10. Lemierre’s syndrome: current perspectives on diagnosis and management

    Directory of Open Access Journals (Sweden)

    Johannesen KM

    2016-09-01

    Full Text Available Katrine M Johannesen,1 Uffe Bodtger1–3 1Department of Lung Medicine, Naestved Hospital, Naestved, 2Institute for Regional Health Research, University of Southern Denmark, Odense, 3Department of Pulmonology, Zealand University Hospital, Roskilde, Denmark Abstract: This is a systematic review of cases with Lemierre’s syndrome (LS in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4–6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other treatment options included anticoagulants in 46% of cases, which is unwarrantedly high, as to date, no evidence of the positive effects of anticoagulants in LS exists. Only two cases had ligation of the internal jugular vein performed. This review confirms the rare, but severe aspects of LS. Mortality from LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician. Keywords: Lemierre’s syndrome

  11. [Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

    Science.gov (United States)

    Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

    2009-01-01

    The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

  12. A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis.

    Science.gov (United States)

    Baab, Karen L; Brown, Peter; Falk, Dean; Richtsmeier, Joan T; Hildebolt, Charles F; Smith, Kirk; Jungers, William

    2016-01-01

    The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004. These remains have been assigned to a new species, Homo floresiensis, with the partial skeleton LB1 as the type specimen. The Liang Bua hominins are notable for their short stature, small endocranial volume, and many features that appear phylogenetically primitive relative to modern humans, despite their late Pleistocene age. Recently, some workers suggested that the remains represent members of a small-bodied island population of modern Austro-Melanesian humans, with LB1 exhibiting clinical signs of Down syndrome. Many classic Down syndrome signs are soft tissue features that could not be assessed in skeletal remains. Moreover, a definitive diagnosis of Down syndrome can only be made by genetic analysis as the phenotypes associated with Down syndrome are variable. Most features that contribute to the Down syndrome phenotype are not restricted to Down syndrome but are seen in other chromosomal disorders and in the general population. Nevertheless, we re-evaluated the presence of those phenotypic features used to support this classification by comparing LB1 to samples of modern humans diagnosed with Down syndrome and euploid modern humans using comparative morphometric analyses. We present new data regarding neurocranial, brain, and symphyseal shape in Down syndrome, additional estimates of stature for LB1, and analyses of inter- and intralimb proportions. The presence of cranial sinuses is addressed using CT images of LB1. We found minimal congruence between the LB1 phenotype and clinical descriptions of Down syndrome. We present important differences between the phenotypes of LB1 and individuals with Down syndrome, and quantitative data that characterize LB1 as an outlier compared with Down syndrome and non-Down syndrome groups. Homo floresiensis remains a phenotypically unique, valid species with its roots

  13. Prognostic significance of gastrointestinal symptoms and diagnosis in relation to the acute radiation syndrome. A retrospective analysis based on the data base SEARCH; Prognostische Bedeutung von gastrointestinalen Symptomen und Befunden in Zusammenhang mit dem aktuen Strahlensyndrom. Eine retrospektive Datenanalyse anhand der Datenbank SEARCH

    Energy Technology Data Exchange (ETDEWEB)

    Hoebbel, Mathias Niklaus Johannes

    2016-11-17

    The following thesis explores the prognostic significance of gastrointestinal symptoms and diagnoses in relation to acute radiation syndrome. This is a retrospective analysis based on the SEARCH (System of Evaluation and Archiving of Radiation Accidents based on Case Histories) database, which was created by a team of researchers in Ulm in 1998. The SEARCH database compiled health status data of individuals involved in a total of 78 ionized radiation accidents between 1945 and 2003. In the past changes in bloodbuilding systems were considered the defining factor in determining a prognosis regarding survival times. Treatment decisions were made in line with these findings, including stem-cell transplants. In recent history, especially after the nuclear disaster in Chernobyl in 1986, the focus shifted onto other organ systems. As a result it has been proven that significant cutaneous damages present an important influence on survival regardless of haematopoiesis. Several researchers have looked at changes in the gastrointestinal tract and possible correlations with radiation induced multiple organ failure. In this paper, all of the data recorded in SEARCH in regards to gastrointestinal symptoms have been analyzed. These include symptoms such as nausea, vomiting and changes in bowel movement as well as their onset and severity. Radiation-induced oral mucositis was also further investigated. Despite the occasional gaps in data in SEARCH, results from the analysis proved that the occurrence of certain symptoms, their severity and their onset were directly correlated to life expectancy, regardless of the dose estimation, and the pending blood test results. An immediate triage of these patients by skilled medical professionals is imperative to accurate categorization.

  14. Polycystic ovary syndrome: update on diagnosis and treatment.

    Science.gov (United States)

    Setji, Tracy L; Brown, Ann J

    2014-10-01

    Polycystic ovary syndrome is now a well-recognized condition affecting 6%-25% of reproductive-aged women, depending on the definition. Over the past 3 decades, research has launched it from relative medical obscurity to a condition increasingly recognized as common in internal medicine practices. It affects multiple systems, and requires a comprehensive perspective on health care for effective treatment. Metabolic derangements and associated complications include insulin resistance and diabetes, hyperlipidemia, hypertension, fatty liver, metabolic syndrome, and sleep apnea. Reproductive complications include oligo-/amenorrhea, sub-fertility, endometrial hyperplasia, and cancer. Associated psychosocial concerns include depression and disordered eating. Additionally, cosmetic issues include hirsutism, androgenic alopecia, and acne. This review organizes this multi-system approach around the mnemonic "MY PCOS" and discusses evaluation and treatment options for the reproductive, cosmetic, and metabolic complications of this condition.

  15. Chronic Prostatitis/Chronic Pelvic Pain Syndrome Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    Cem Nedim Yuceturk

    2014-08-01

    Full Text Available Chronic prostatitis is a chronic syndrome that effects men with a wide range of age. The etiology, natural history and appropriate therapy models are still unclear. According to the classification of National Institutes of Health; 4 types of prostatitis were defined; acute bacterial prostatitis (category I, chronic bacterial prostatitis (category II, chronic nonbacterial prostatitis/chronic pelvic pain syndrome (category III and asymptomatic prostatitis (category IV.Since microorganisms can only be isolated from a small percent of patients, empiric treatment is given to the most of the men. Multidisciplinary approach to the patients with suspected chronic prostatitis will help clinicians to play an active role in the treatment and prevent unnecessary medical therapies. [Archives Medical Review Journal 2014; 23(4.000: 691-702

  16. Sweet's syndrome associated with cellulitis - a challenging diagnosis

    OpenAIRE

    Resende, Cristina; Santos, Rui; Pereira,Teresa; Brito,Celeste

    2016-01-01

    Abstract Sweet's syndrome is a neutrophilic dermatosis with worldwide distribution that has been associated with inflammatory autoimmune diseases, infections, malignancies, drugs, and pregnancy. The disease is idiopathic in up to 50% of patients. A 64-year-old woman, diagnosed with right limb cellulitis (4 days of evolution), was seen at our department, due to persistent cellulitis and progressive appearance of painful nodules and plaques in both shins and the right forearm (2 days of evoluti...

  17. Prenatal diagnosis of nail patella syndrome: A case report

    Directory of Open Access Journals (Sweden)

    L D Padmanabhan

    2017-01-01

    Full Text Available The Nail Patella Syndrome (NPS is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.

  18. Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements and its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by Amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-12-01

    Conclusion: We found a frequency of 0.019% for rea(21q21q Down syndrome in patients undergoing amniocentesis. Down syndrome caused by the homologous rearrangement rea(21q21q can be associated with recurrence. Prenatal diagnosis of rea(21q21q Down syndrome should include extensive cytogenetic and molecular analyses of the parents and probands.

  19. Reassessing the reliability of the salivary cortisol assay for the diagnosis of Cushing syndrome.

    Science.gov (United States)

    Zhang, Qian; Dou, Jingtao; Gu, Weijun; Yang, Guoqing; Lu, Juming

    2013-10-01

    The cortisol concentration in saliva is 10-fold lower than total serum cortisol and accurately reflects the serum concentration, both levels being lowest around midnight. The salivary cortisol assay measures free cortisol and is unaffected by confounding factors. This study analysed published data on the sensitivity and specificity of salivary cortisol levels in the diagnosis of Cushing syndrome. Data from studies on the use of different salivary cortisol assay techniques in the diagnosis of Cushing syndrome, published between 1998 and 2012 and retrieved using Ovid MEDLINE®, were analysed for variance and correlation. For the 11 studies analysed, mean sensitivity and specificity of the salivary cortisol assay were both >90%. Repeated measurements were easily made with this assay, enabling improved diagnostic accuracy in comparison with total serum cortisol measurements. This analysis confirms the reliability of the saliva cortisol assay as pragmatic tool for the accurate diagnosis of Cushing syndrome. With many countries reporting a rising prevalence of metabolic syndrome, diabetes and obesity--in which there is often a high circulating cortisol level--salivary cortisol measurement will help distinguish these states from Cushing syndrome.

  20. Does DSM-IV Have Equivalents for the Parental Alienation Syndrome (PAS) Diagnosis?

    Science.gov (United States)

    Gardner, Richard A.

    2003-01-01

    Child custody evaluators commonly find themselves confronted with resistance when they attempt to use the term parental alienation syndrome (PAS) in courts of law. The purpose of this article is to elucidate the reasons for the reluctance to use the PAS diagnosis and the applicability of parental alienation, as well as current DSM-IV substitute…

  1. Possible applications of RIA of LH and FSH in diagnosis of Stein-Leventhal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Zenisek, L.; Talas, M.; Stehlikova, J.; Fingerova, H.; Duskova, M.

    1981-01-01

    LH determination in the serum significantly assists in diagnosing polycystic ovaries. Values exceeding 22 mIU/ml serum are indicative of a typical picture of polycystic ovaries similar to those found in the Stein-Leventhal syndrome. Lower levels indicate an atypical picture of polycystic ovaries or low-cyst ovary degeneration. FSH level cannot be used for this diagnosis.

  2. Biomarkers for the diagnosis of acute coronary syndrome : studies in primary care

    NARCIS (Netherlands)

    Bruins Slot, M.H.E.

    2010-01-01

    The research described in this thesis focuses on the potential value of early cardiac biomarkers in the diagnosis of acute coronary syndrome (ACS) in the primary care setting, with special attention for point-of-care tests. The design and results of a large diagnostic study on the value of a bedside

  3. The Acute Compartment Syndrome of the Lower Leg: A Difficult Diagnosis?

    NARCIS (Netherlands)

    J. Vlot; M.G. Eversdijk (Martin); D. den Hartog (Dennis); P.P. Oprel (Pim); W.E. Tuinebreijer (Wim)

    2010-01-01

    textabstractThree patients, two adults and one child, developed an acute compartment syndrome of the lower leg. Due to delay in diagnosis, severe complications developed, resulting in two transfemoral amputations. In the youngest patient, the lower leg was able to be saved after extensive reconstruc

  4. Brazilian consensus on guidelines for diagnosis and treatment for restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Alan Christmann Fröhlich

    2015-03-01

    Full Text Available The Consensus on restless legs syndrome is an effort of neurologists from several Brazilian states, which tirelessly reviewed the literature of recent years in search of evidence, both in regard to diagnosis and treatment, according to the Oxford Centre for Evidence-based Medicine.

  5. Plain film diagnosis in meconium plug syndrome, meconium ileus and neonatal Hirschsprung's disease - A scoring system

    NARCIS (Netherlands)

    S.M. Hussain (Shahid); M. Meradji (Morteza); S.G.F. Robben (Simon); W.C.J. Hop (Wim)

    1991-01-01

    textabstractAbdominal plain films of 133 neonates, with 82 cases of meconium plug syndrome (MPS), 27 cases of meconium ileus (MI) and 24 cases of neonatal Hirschsprung's disease (HD), were reviewed to assess the value of such radiographs for diagnosis. The radiographs were examined according to a li

  6. The Acute Compartment Syndrome of the Lower Leg: A Difficult Diagnosis?

    NARCIS (Netherlands)

    J. Vlot; M.G. Eversdijk (Martin); D. den Hartog (Dennis); P.P. Oprel (Pim); W.E. Tuinebreijer (Wim)

    2010-01-01

    textabstractThree patients, two adults and one child, developed an acute compartment syndrome of the lower leg. Due to delay in diagnosis, severe complications developed, resulting in two transfemoral amputations. In the youngest patient, the lower leg was able to be saved after extensive

  7. Recent advances in the diagnosis of Cushing’s syndrome in dogs

    NARCIS (Netherlands)

    Kooistra, H.S.|info:eu-repo/dai/nl/205285864; Galac, S.|info:eu-repo/dai/nl/304830860

    2010-01-01

    Vet Clin North Am Small Anim Pract. 2010 Mar;40(2):259-67. Recent advances in the diagnosis of Cushing's syndrome in dogs. Kooistra HS, Galac S. Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3584 CM Utrecht, The Netherlands.

  8. Delay and poor diagnosis of Down syndrome in KwaZulu-Natal ...

    African Journals Online (AJOL)

    Down syndrome (DS) is the most common chromosomal disorder in newborns, with a birth ... has been undertaken on DS in black African children in SA, and. Christianson's[3] ..... in low- and middle-income countries.[15] If diagnosis, which is ...

  9. Recommendations for the diagnosis and management of Prader-Willi syndrome

    NARCIS (Netherlands)

    A.P. Goldstone (Anthony); A.J. Holland; B.P. Hauffa (Berthold); A.C.S. Hokken-Koelega (Anita); M. Tauber (Maïthé)

    2008-01-01

    textabstractObjective: The objective of the study was to provide recommendations for the diagnosis and management of Prader-Willi syndrome throughout the life span to guide clinical practice. Participants: An open international multidisciplinary expert meeting was held in October 2006 in Toulouse, F

  10. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

    Science.gov (United States)

    Celentano, Claudio; Prefumo, Federico; Liberati, Marco; Gallo, Giuseppina; Di Nisio, Quirino; Rotmensch, Sigfried

    2006-06-01

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

  11. Establishing a murine model of the Hematopoietic Syndrome of the Acute Radiation Syndrome

    Science.gov (United States)

    Plett, P. Artur; Sampson, Carol H.; Chua, Hui Lin; Joshi, Mandar; Booth, Catherine; Gough, Alec; Johnson, Cynthia S.; Katz, Barry P.; Farese, Ann M.; Parker, Jeffrey; MacVittie, Thomas J.; Orschell, Christie M.

    2012-01-01

    We have developed a murine model of the Hematopoietic Syndrome of the Acute Radiation Syndrome (H-ARS) for efficacy testing of medical countermeasures (MCM) against radiation according to the FDA Animal Rule. Ten to 12 week old male and female C57BL/6 mice were exposed to the LD50/30-LD70/30 dose of total body irradiation (TBI, 137Cs, 0.62-0.67 Gy min-1) in the morning hours when mice were determined to be most radiosensitive, and assessed for 30 day survival and mean survival time (MST). Antibiotics were delivered in the drinking water on days 4-30 post-TBI at a concentration based on the amount of water that lethally-irradiated mice were found to consume. The fluoroquinolones, ciprofloxacin and levofloxacin, and the tetracycline doxycycline and aminoglycoside neomycin, all significantly increased MST of decedent mice, while ciprofloxacin (p=0.061) and doxycycline + neomycin (p=0.005) showed at least some efficacy to increase 30 day survival. Blood sampling (30uL/mouse every 5th day) was found to negatively impact 30 day survival. Histopathology of tissues harvested from non-moribund mice showed expected effects of lethal irradiation, while moribund mice were largely septicemic with a preponderance of enteric organisms. Kinetics of loss and recovery of peripheral blood cells in untreated mice and those treated with two MCM, granulocyte-colony stimulating factor and Amifostine, further characterized and validated our model for use in screening studies and pivotal efficacy studies of candidate MCM for licensure to treat irradiated individuals suffering from H-ARS. PMID:22929467

  12. Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis.

    Science.gov (United States)

    Faustino, Ana; Paiva, Luís; Morgadinho, Ana; Trigo, Emília; Botelho, Ana; Costa, Marco; Leitão-Marques, António

    2014-02-01

    Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a 39-year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  13. Adult diagnosis of Swyer-James-MacLeod syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Gouveia Paulo

    2011-01-01

    Full Text Available Abstract Introduction Swyer-James-MacLeod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. It is characterized by hypoplasia and/or agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion. Case presentation Here we report the case of a 53-year-old Caucasian woman with Swyer-James-MacLeod syndrome found in the differential diagnosis workup for a new onset of heart failure, secondary to pulmonary arterial hypertension complicated by a patent ductus arteriosus. Conclusion Typically, this disorder is diagnosed in childhood after evaluation for recurrent respiratory infections, but sometimes an indolent course means diagnosis is not made until adulthood.

  14. Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

    Directory of Open Access Journals (Sweden)

    Cresio Alves

    2013-01-01

    Full Text Available Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. A radiological study revealed metaphyseal chondrodysplasia. A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 103/µL, neutropenia (segmented neutrophils: 15-22%, but normal hemoglobin, hematocrit and platelet count. A molecular study revealed biallelic mutations in the Shwachman-Bodian-Diamond Syndrome gene (183-184TA-CT K62X in exon 2 and a 258+2T-C transition confirming the diagnosis of Shwachman-Diamond Syndrome. A non-pathologic, silent nucleotide A to G transition at position 201 was also found in heterozygosis in the Shwachman-Bodian-Diamond Syndrome gene. This is the first report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, intermittent or persistent neutropenia and skeletal changes. Other characteristics include immune system, hepatic and cardiac changes and predisposition to leukemia. Recurrent bacterial, viral and fungal infections are common. The possibility of Shwachman-Diamond Syndrome should be kept in mind when investigating children with a diagnosis of cystic fibrosis and normal sweat tests.

  15. Anti-radiation vaccine: Immunologically-based Prophylaxis of Acute Toxic Radiation Syndromes Associated with Long-term Space Flight

    Science.gov (United States)

    Popov, Dmitri; Maliev, Vecheslav; Jones, Jeffrey; Casey, Rachael C.

    2007-01-01

    Protecting crew from ionizing radiation is a key life sciences problem for long-duration space missions. The three major sources/types of radiation are found in space: galactic cosmic rays, trapped Van Allen belt radiation, and solar particle events. All present varying degrees of hazard to crews; however, exposure to high doses of any of these types of radiation ultimately induce both acute and long-term biological effects. High doses of space radiation can lead to the development of toxicity associated with the acute radiation syndrome (ARS) which could have significant mission impact, and even render the crew incapable of performing flight duties. The creation of efficient radiation protection technologies is considered an important target in space radiobiology, immunology, biochemistry and pharmacology. Two major mechanisms of cellular, organelle, and molecular destruction as a result of radiation exposure have been identified: 1) damage induced directly by incident radiation on the macromolecules they encounter and 2) radiolysis of water and generation of secondary free radicals and reactive oxygen species (ROS), which induce chemical bond breakage, molecular substitutions, and damage to biological molecules and membranes. Free-radical scavengers and antioxidants, which neutralize the damaging activities of ROS, are effective in reducing the impact of small to moderate doses of radiation. In the case of high doses of radiation, antioxidants alone may be inadequate as a radioprotective therapy. However, it remains a valuable component of a more holistic strategy of prophylaxis and therapy. High doses of radiation directly damage biological molecules and modify chemical bond, resulting in the main pathological processes that drive the development of acute radiation syndromes (ARS). Which of two types of radiation-induced cellular lethality that ultimately develops, apoptosis or necrosis, depends on the spectrum of incident radiation, dose, dose rate, and

  16. Proposal on the diagnosis and classification of polycystic ovary syndrome

    Institute of Scientific and Technical Information of China (English)

    Yu Jin

    2007-01-01

    In order to improve the treatment outcome and facilitate the clinical practice, a diagnostic classification of heterogeneous disease-polycystic ovary syndrome (PCOS) is proposed.PCOS is classified into 2 main types (Ⅰ ,Ⅱ ) and 4 subtypes ( Ⅰ a,Ⅰb,Ⅱa, Ⅱb) : PCOS Ⅰ refers to eases with hyperandrogenemia derived from the ovary ( Ⅰa) or from both the ovary and the adrenal cortex ( Ⅰ b).PCOS Ⅱ refers to cases with both hyperandrogenemia and hyperinsulinemia, while Ⅱb being severer than Ⅱ a, like hyperthecosis.Better efficacy of integrative medicine treatment on this classification is mentioned.

  17. Radiologic diagnosis of Fitz-Hugh-Curtis syndrome

    Institute of Scientific and Technical Information of China (English)

    WANG Cheng-lin; GUO Xue-jun; YUAN Zhi-dong; SHI Qiao; HU Xiao-hong; FANG Lin

    2009-01-01

    @@ Litz-Hugh-Curtis syndrome (FHCS) was reported by Curtis after he found a fibrous adhesion between the surface of the liver and peritoneum in patients with gonococcal pelvic inflammation during laparoscopy in 1930, and the first report by Fitz-Hugh as acute gonococcal peritonitis in the right upper quadrant abdomen was published in 1934.1,2 The so-called FHCS is believed to originate from an inflammation in the pelvis which may ascend toward the diaphragmatic surface of the liver along the right paracolic gutters to cause the inflammation of the liver caosule with right upper abdominal pain.3-7

  18. Fibromyalgia Syndrome: An Overview of Pathophysiology, Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Firdous Jahan

    2012-05-01

    Full Text Available Fibromyalgia Syndrome (FMS is a chronic condition causing pain, stiffness, and tenderness of the muscles, tendons, and joints. It is also characterized by restless sleep, tiredness, fatigue, anxiety, depression, and disturbances in bowel functions. The etiology of fibromyalgia remains unknown, but recent advances and discoveries have helped to unravel some of the mysteries of this disease. Research highlights some of the biochemical, metabolic, and immunoregulatory abnormalities associated with fibromyalgia. Management of FMS at the present time is very difficult as it has multiple etiological factors and psychological predispositions; however, a patient centered approach is essential to handle this problem.

  19. [The pathogenesis, diagnosis and treatment of antiphospholipid syndrome].

    Science.gov (United States)

    Ohmura, Kazumasa; Oku, Kenji; Atsumi, Tatsuya

    2014-07-01

    Antiphospholipid syndrome (APS) is a clinical condition characterized by recurrent thrombotic events and/or pregnancy morbidity associated with the persistence of antiphospholipid antibodies (aPLs). It is the one of the most common diseases in acquired thrombophilia. In approximately 50 % of APS patients, systemic lupus erythematosus coexist. APS is diagnosed by the 2006 Sydney revised Sapporo criteria. The pathogenic processes of APS have not been fully elucidated. Multiple mechanisms have been proposed, including interference with hemostatic reactions, activation of endothelial cells and complement activation. The treatment of APS is virtually the preventive therapy such as long-term anticoagulation and the role of corticosteroid or immunosuppressive agents is limited.

  20. Restless leg syndrome: pathogenesis, diagnosis and treatment. Literature review

    Directory of Open Access Journals (Sweden)

    M. O. Kovalchuk

    2012-01-01

    Full Text Available Restless leg syndrome (RLS is a chronic sensory‑motor disorder characterized by sensory discomfort in legs, appearing or worsening during rest in the evening or night time, evoking the urge to move. Despite its wide prevalence (around 5−10% in the population and essential influence on the quality of life, not all the physicians, specialists of the primary care and even neurologists are common with this disorder. Because of that RLS stays commonly unrecognized.

  1. MRCP diagnosis of Mirizzi syndrome in a paediatric patient: importance of T1-weighted gradient echo images for diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Kaya, Diana; Karcaaltincaba, Musturay; Akhan, Okan; Haliloglu, Mithat [Hacettepe University School of Medicine, Department of Radiology, Sihhiye, Ankara (Turkey); Uslu, Nuray [Hacettepe University School of Medicine, Department of Pediatric Gastroenterology, Sihhiye, Ankara (Turkey)

    2006-09-15

    We report a 15-year-old boy with Mirizzi syndrome diagnosed by MR cholangiopancreatography (MRCP). Respiratory-triggered 3D MRCP was performed during free breathing. An impacted gallstone was noted in the infundibulum; this was not visible on T2-weighted images, but was hyperintense on T1-weighted gradient-echo images. This case illustrates the utility of 3D MRCP with parallel imaging in paediatric patients and the importance of T1-weighted gradient-echo images for the diagnosis of impacted gallstones. (orig.)

  2. SLEEP APNEA/HIPOPNEA SYNDROME (SAHS: HOME DIAGNOSIS AND TREATMENT

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    Coma del Corral MJ

    2006-02-01

    Full Text Available SUMMARYRecent studies associate SAHS with higher cardiovascular morbidity-mortality and we know that even today SAHS continues to be under-diagnosed. This under-diagnosis, signifies, on the one hand, a lowering or loss of health, and on the other, an increase in costs, since it has been demonstrated that patients with undiagnosed or untreated SAHS are higher consumers of health service resources and have higher work absenteeism, while these costs are reduced in SAHS patients treated with CPAP. Therefore, we find ourselves faced with the need to diagnose and suitably treat the largest possible number of patients who suffer from SAHS.The diagnostic method of choice continues to be supervised nocturnal PSG in the sleep laboratory, however, the future of SAHS diagnosis is inevitably moving towards the use of simplified systems with a high sensitivity and specificity. In this sense, the Respiratory Polygraphy represents an alternative tool for the diagnosis of SAHS, being able to be carried out in the home of the patient, just like the Auto-CPAP systems. Thus, the current approach to SAHS has changed and therefore, a patient with a high probability of suffering from SAHS, is able to have a RP carried out at home which might diagnose SAHS and later to have the CPAP adjusted to the optimum pressure level, as a recording using Auto-CPAP, could be carried out at home.With this new approach to SAHS, waiting lists could be reduced and thus reduce the under-diagnosis. All this brings about an implicit saving of resources. The place of diagnosis will basically be the home, and in this sense, the development of telematic applications will contribute significantly to the modification of diagnostic strategies.The success of this form of approach to SAHS, will be established with a suitable selection of subsidiary diagnosed patients and adjustment of home treatment, therefore, each sleep unit must set up its own diagnostic-therapeutic strategy which may be more

  3. Polycystic ovary syndrome: reviewing diagnosis and management of metabolic disturbances.

    Science.gov (United States)

    Spritzer, Poli Mara

    2014-03-01

    Polycystic ovary syndrome (PCOS) is a common condition in women at reproductive age associated with reproductive and metabolic dysfunction. Proposed diagnosed criteria for PCOS include two out of three features: androgen excess, menstrual irregularity, and polycystic ovary appearance on ultrasound (PCO), after other causes of hyperandrogenism and dysovulation are excluded. Based on these diagnostic criteria, the most common phenotypes are the "classic PCOS"--hyperandrogenism and oligomenorrhea, with or without PCO; the "ovulatory phenotype"--hyperandrogenism and PCO in ovulatory women; and the "non-hyperandrogenic phenotype", in which there is oligomenorrhea and PCO, without overt hyperandrogenism. The presence of obesity may exacerbate the metabolic and reproductive disorders associated with the syndrome. In addition, PCOS women present higher risk for type 2 diabetes and higher prevalence of cardiovascular risk factors that seems to be associated with the classic phenotype. The main interventions to minimize cardiovascular and metabolic risks in PCOS are lifestyle changes, pharmacological therapy, and bariatric surgery. Treatment with metformin has been shown to improve insulin sensitivity, lowering blood glucose and androgen levels. These effects are more potent when combined with lifestyle interventions. In conclusion, besides reproductive abnormalities, PCOS has been associated to metabolic comorbidities, most of them linked to obesity. Confounders, such as the lack of standard diagnostic criteria, heterogeneity of the clinical presentation, and presence of obesity, make management of PCOS difficult. Therefore, the approach to metabolic abnormalities should be tailored to the risks and treatment goals of each individual woman.

  4. Diagnosis of Brugada's syndrome after subarachnoid injection of prilocaine.

    Science.gov (United States)

    Oliván, B; Arbeláez, A; de Miguel, M; Pelavski, A

    2016-10-01

    Brugada syndrome is an autosomal dominant genetic disease affecting sodium ion channels. It is characterised by right bundle branch block and ST elevation in the right precordial leads, and with no structural cardiac abnormalities. It is associated with sudden death. This disease may be unmasked by certain drugs and sudden changes in autonomic tone. Local anaesthetics may increase ECG changes due to a blockade of the sodium channels, mainly depending on the dose and the type of anaesthetic. Thus, there have been reported electrocardiographic changes consistent with Brugada syndrome, triggered after epidural or paravertebral infusion of bupivacaine and ropivacaine. The case is described of a 66 years old man, scheduled for inguinal herniorrhaphy as an outpatient. He had no history of syncope or arrhythmias. After spinal anaesthesia with 40mg of prilocaine the ECG showed ST elevation>2mm, and right bundle branch block in V1-V3. Copyright © 2015 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Superior Semicircular Canal Dehiscence SyndromeDiagnosis and Surgical Management

    Science.gov (United States)

    Palma Diaz, Marite; Cisneros Lesser, Juan Carlos; Vega Alarcón, Alfredo

    2017-01-01

    Introduction Superior semicircular canal dehiscence syndrome was described by Minor et al in 1998. It is a troublesome syndrome that results in vertigo and oscillopsia induced by loud sounds or changes in the pressure of the external auditory canal or middle ear. Patients may present with autophony, hyperacusis, pulsatile tinnitus and hearing loss. When symptoms are mild, they are usually managed conservatively, but surgical intervention may be needed for patients with debilitating symptoms. Objective The aim of this manuscript is to review the different surgical techniques used to repair the superior semicircular canal dehiscence. Data Sources PubMed and Ovid-SP databases. Data Synthesis The different approaches are described and discussed, as well as their limitations. We also review the advantages and disadvantages of the plugging, capping and resurfacing techniques to repair the dehiscence. Conclusions Each of the surgical approaches has advantages and disadvantages. The middle fossa approach gives a better view of the dehiscence, but comes with a higher morbidity than the transmastoid approach. Endoscopic assistance may be advantageous during the middle cranial fossa approach for better visualization. The plugging and capping techniques are associated with higher success rates than resurfacing, with no added risk of hearing loss. PMID:28382131

  6. Novel Implications in Molecular Diagnosis of Lynch Syndrome

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    Raffaella Liccardo

    2017-01-01

    Full Text Available About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP and Lynch syndrome (LS. In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives.

  7. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

    Science.gov (United States)

    Luk, Ho-Ming

    2016-01-01

    Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular diagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. It would provide important clue during the diagnostic process for clinicians. PMID:26942024

  8. An Approach to Differential Diagnosis of Antiphospholipid Antibody Syndrome and Related Conditions

    Directory of Open Access Journals (Sweden)

    Giacomo Emmi

    2014-01-01

    Full Text Available The antiphospholipid antibody syndrome is a systemic, acquired, immune-mediated disorder characterized by episodes of venous, arterial, or microcirculation thrombosis and/or pregnancy abnormalities, associated with the persistent presence of autoantibodies, confirmed at least in two occasions 12 weeks apart, directed to molecular complexes consisting of phospholipids and proteins. Antiphospholipid antibody syndrome should always be considered as a potential diagnosis especially for young patients presenting with a history of thrombotic events, in particular when they occur without any obvious external trigger or any inherited thrombophilic mutation (even if 2006 criteria do not exclude antiphospholipid antibody syndrome in patients with other inherited or acquired prothrombotic conditions, or for women with recurrent pregnancy losses or later fetal deaths. Many other disorders are able to mimic antiphospholipid antibody syndrome, so a broad range of alternative diagnoses should be investigated and ruled out during clinical workup.

  9. An approach to differential diagnosis of antiphospholipid antibody syndrome and related conditions.

    Science.gov (United States)

    Emmi, Giacomo; Silvestri, Elena; Squatrito, Danilo; Ciucciarelli, Lucia; Cameli, Anna Maria; Denas, Gentian; D'Elios, Mario Milco; Pengo, Vittorio; Emmi, Lorenzo; Prisco, Domenico

    2014-01-01

    The antiphospholipid antibody syndrome is a systemic, acquired, immune-mediated disorder characterized by episodes of venous, arterial, or microcirculation thrombosis and/or pregnancy abnormalities, associated with the persistent presence of autoantibodies, confirmed at least in two occasions 12 weeks apart, directed to molecular complexes consisting of phospholipids and proteins. Antiphospholipid antibody syndrome should always be considered as a potential diagnosis especially for young patients presenting with a history of thrombotic events, in particular when they occur without any obvious external trigger or any inherited thrombophilic mutation (even if 2006 criteria do not exclude antiphospholipid antibody syndrome in patients with other inherited or acquired prothrombotic conditions), or for women with recurrent pregnancy losses or later fetal deaths. Many other disorders are able to mimic antiphospholipid antibody syndrome, so a broad range of alternative diagnoses should be investigated and ruled out during clinical workup.

  10. Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review.

    Science.gov (United States)

    Bombard, David S; Mousa, Shaker A

    2014-09-01

    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a disorder in women that presents as Mullerian agenesis. These patients present internal genitalia abnormalities that include the absence of a uterus and the upper two-thirds of the vagina. In this review, current diagnostic methods, accompanying complications (congenital and psychological) and non-surgical and surgical treatments are summarized. Ultrasound and MRI have been the most documented options in MRKH syndrome diagnosis. Many women with MRKH syndrome have renal, skeletal, hearing or cardiac congenital anomalies and increased levels of psychological distress. Non-surgical interventions can be used to create a sexually functional neovagina through vaginal dilation, and surgical interventions provide alternate methods of creating a neovagina. Additionally, vaginal tissue engineering and gene therapy might provide more effective approaches in solving MRKH syndrome.

  11. Stevens-Johnson syndrome limited to multiple sites of radiation therapy in a patient receiving phenobarbital.

    Science.gov (United States)

    Duncan, K O; Tigelaar, R E; Bolognia, J L

    1999-03-01

    Stevens-Johnson syndrome (SJS) is a severe cutaneous eruption that most often appears as an adverse reaction to a medication. There have been 21 reported cases of atypical erythema multiforme, toxic epidermal necrolysis, and SJS arising in patients receiving radiation therapy in addition to phenytoin, phenobarbital, or carbamazepine. We report the second case of SJS resulting from concomitant phenobarbital and radiation therapy, in which the eruption was limited to the sites of radiation, which were multiple.

  12. Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge

    Science.gov (United States)

    Marangi, Giuseppe; Zollino, Marcella

    2015-01-01

    Pitt–Hopkins syndrome is an emerging neurodevelopmental disorder caused by haploinsufficiency of the TCF4 gene on chromosome 18q21. It is characterized by severe intellectual disability, seizures, microcephaly, constipation and a distinctive facial gestalt. Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat–Wilson syndrome, distinctive of Pitt–Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth. The occurrence of these signs in variable association of uncoordinated movements, microcephaly of postnatal onset, eye abnormalities, constipation, epilepsy and subtle brain abnormalities is highly predictive of a TCF4 mutation, making it possible to plan a genetic test of choice among severe encephalopathies. Angelman syndrome represents the nosological condition closest to Pitt–Hopkins syndrome. PMID:27617128

  13. Restless legs syndrome: clinical presentation diagnosis and treatment.

    Science.gov (United States)

    Wijemanne, Subhashie; Jankovic, Joseph

    2015-06-01

    Restless legs syndrome (RLS) is a circadian disorder of sensory-motor integration that may be related to genetically determined dysregulation of iron transport across the blood-brain barrier. Dopamine agonists (DAs) have been considered the first-line therapy, but with the growing appreciation of problems associated with long-term treatment, particularly augmentation and impulse control disorder, alpha-2-delta drugs, such as gabapentin, are now considered the first line of treatment in patients with troublesome RLS. Opioids can be considered as an alternative therapy, particularly in patients with DA-related augmentation. In more severe cases, a combination therapy may be required. Intravenous iron therapy may be considered on those patients with refractory RLS.

  14. Diagnosis and clinical genetics of Cushing syndrome in pediatrics

    Science.gov (United States)

    Stratakis, Constantine A.

    2016-01-01

    SYNOPSIS Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin (ACTH) in the pituitary gland (this form of CS is called Cushing disease) or elsewhere (ectopic CS), tumors that produce corticotropin-releasing hormone (CRH) anywhere (mostly neuroendocrine tissues), and finally adrenocortical masses that produce cortisol, such as adrenocortical cancer (ACC) or adenomas, and bilateral adrenocortical hypeprlasia (BAHs). ACC is a very rare cause of CS in children but should be excluded first, especially among younger patients. CS in children is often caused by germline or somatic mutations in an expanding list of genes with implications for the prognosis of the patients and for their families. CS should be early recognized in children; otherwise, it can lead to significant morbidity and mortality. All patients with suspected CS should be referred to specialized clinical centers for work-up; these centers should have access to experienced endocrine and neurological surgeons. PMID:27241967

  15. Prenatal diagnosis of Meckel-Gruber syndrome case reports.

    Science.gov (United States)

    Su, S L; Liu, C M; Lee, J N

    1995-02-01

    Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.

  16. Catastrophic antiphospholipid syndrome in pregnancy, a diagnosis that should not be missed.

    Science.gov (United States)

    Hoayek, Jennifer G; Moussa, Hind N; Rehman, Hina A; Nasab, Susan Hosseini; Blackwell, Sean C; Sibai, Baha M

    2016-12-01

    Catastrophic antiphospholipid syndrome (CAPS) is an accelerated form of the antiphospholipid antibody syndrome resulting in multi-organ ischemia and failure. It is a rare and life-threatening condition that can be easily mistaken with hemolysis elevated liver enzymes low platelets syndrome, thrombotic thrombocytopenic purpura, and hemolytic uremic syndrome. In order to make a diagnosis, it is required to have multi-organ thrombosis over 1 week affecting at least three organs or systems, and to have positive antiphospholipid antibody on two occasions (6 weeks apart), and histopathologic confirmation of small vessel occlusion. However, due to similarities in clinical and laboratory findings between CAPS and some other obstetric complications, potential misdiagnosis or delay in diagnosis are common, increasing the risk of adverse maternal and perinatal outcomes. In this review we summarized information presented in previous studies, focusing on CAPS related to pregnancy. We reviewed diagnostic criteria, differential diagnosis, and common presentation ranging from malaise, abdominal pain, dyspnea, hypertension, to altered mental status and seizures. We also discussed management in pregnancy and included a detailed algorithm with steps to take. Of note, the most significant reduction in mortality was seen in patients receiving triple therapy which will be discussed in this review.

  17. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

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    Yanuarita Tursinawati

    2015-08-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  18. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yanuarita Tursinawati

    2015-12-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  19. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.

    Science.gov (United States)

    Sheikhzadeh, S; Kade, C; Keyser, B; Stuhrmann, M; Arslan-Kirchner, M; Rybczynski, M; Bernhardt, A M; Habermann, C R; Hillebrand, M; Mir, T; Robinson, P N; Berger, J; Detter, C; Blankenberg, S; Schmidtke, J; von Kodolitsch, Y

    2012-09-01

    Marfan syndrome is considered a clinical diagnosis. Three diagnostic classifications comprising first, Marfan genotype with a causative FBN1 gene mutation; second, Marfan phenotype with clinical criteria of the original Ghent nosology (Ghent-1); and third, phenotype with clinical criteria of its current revision (Ghent-2) in 300 consecutive persons referred for confirmation or exclusion of Marfan syndrome (150 men, 150 women aged 35 ± 13 years) were used. Sequencing of TGBR1/2 genes was performed in 128 persons without FBN1 mutation. Marfan genotype was present in 140, Ghent-1 phenotype in 139, and Ghent-2 phenotype in 124 of 300 study patients. Marfan syndrome was confirmed in 94 and excluded in 129 persons consistently by all classifications, but classifications were discordant in 77 persons. With combined genotype and phenotype information confirmation of Marfan syndrome was finally achieved in 126 persons by Ghent-1 and in 125 persons by Ghent-2 among 140 persons with Marfan genotype, and exclusion was accomplished in 139 persons by Ghent-1 and in 141 persons by Ghent-2 among 160 persons without Marfan genotype. In total, genotype information changed final diagnoses in 22 persons with Ghent-1, and in 32 persons with Ghent-2. It is concluded that genotype information is essential for diagnosis or exclusion of Marfan syndrome.

  20. Cutaneous manifestations of antiphospholipid syndrome: a review of the clinical features, diagnosis and management.

    Science.gov (United States)

    Pinto-Almeida, Teresa; Caetano, Mónica; Sanches, Madalena; Selores, Manuela

    2013-01-01

    Antiphospholipid syndrome is a relatively recent systemic autoimmune disorder defined by thrombotic events and/or obstetric complications in the presence of persistent elevated antiphospholipid antibodies. It\\'s characterized by a wide spectrum of clinical presentations and virtually any organ system or tissue may be affected by the consequences of vascular occlusion. Diagnosis is sometimes difficult and although classification criteria have been published and revised there remain ongoing issues regarding nomenclature, expanding clinical features, laboratory tests and management and much still has to be done. Cutaneous manifestations are common and frequently the first sign of the disease. Although extremely diverse it\\'s important to know which dermatological findings should prompt consideration of antiphospholipid syndrome and the appropriate management for those patients. Much has been debated about when to consider antiphospholipid syndrome and consensus still does not exist, however in spite of being a diagnostic challenge clinicians should know when to look for antiphospholipid antibodies since an early diagnosis is important to prevent further and serious complications. In this article we focus on the cutaneous features that should raise suspicion on the presence of antiphospholipid syndrome and on the complex management of such patients. Many other dermatological signs related to this syndrome have been described in the literature but only occasionally and without consistency or statistic impact and therefore will not be considered here.

  1. False Positive Results of Carpal tunnel syndrome in Electro Diagnosis Tests

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    MR Emad

    2010-07-01

    Full Text Available Introduction & Objective: Carpal tunnel syndrome is identified due to compression of median nerve at wrist and develops symptoms such as wrist pain, paresthesia, numbness and the dysfunction of the hands. The gold standard to diagnose, determining prognosis and planning treatment process based on the severity of nerve involvement are electro-diagnosis tests. The purpose of this study was to specify the least and the most false positive results in common electro-diagnosis tests. Materials & Methods: This descriptive study was conducted at Shiraz University of Medical Sciences in 2009. Twelve different electro-diagnosis tests on fifty-five normal cases (110 available hands, which never had experienced the symptoms of this syndrome, were carried out. The data was statistically analyzed by SPSS software, using T test and Cochran's `Q. Results: There were false positive results in many of the performed tests. The most false-positive result was in- difference between median and ulnar motor distal latencies- test with the rate of 15.5% and the lowest false positive result was in- difference between median and ulnar sensory distal latencies of digit 4- test with the rate of 0%. Conclusion: This study revealed that tests which evaluate the differences between median and ulnar or radial nerves sensory distal latency (in the finger 4 and or 1, respectively, had less false positive results, and are more reliable in suspected cases of this syndrome. Also by using several different electro-diagnostic tests, rapid and efficient diagnosis can be achieved.

  2. Deconvolving the temporal response of photoelectric x-ray detectors for the diagnosis of pulsed radiations.

    Science.gov (United States)

    Zou, Shiyang; Song, Peng; Guo, Liang; Pei, Wenbing

    2013-09-01

    Based on the conjugate gradient method, a simple algorithm is presented for deconvolving the temporal response of photoelectric x-ray detectors (XRDs) to reconstruct the resolved time-dependent x-ray fluxes. With this algorithm, we have studied the impact of temporal response of XRD on the radiation diagnosis of hohlraum heated by a short intense laser pulse. It is found that the limiting temporal response of XRD not only postpones the rising edge and peak position of x-ray pulses but also smoothes the possible fluctuations of radiation fluxes. Without a proper consideration of the temporal response of XRD, the measured radiation flux can be largely misinterpreted for radiation pulses of a hohlraum heated by short or shaped laser pulses.

  3. Diagnosis and care of irritable bowel syndrome in a community-based population.

    Science.gov (United States)

    Yawn, B P; Locke, G R; Lydick, E; Wollan, P C; Bertram, S L; Kurland, M J

    2001-06-01

    To identify the healthcare utilization and evaluation in a community-based population with an incident diagnosis of irritable bowel syndrome (IBS). Retrospective cohort. A randomly selected cohort of 149 Olmsted County, MN, adults with an incident diagnosis of IBS between June 1, 1992, and December 31, 1994. Retrospective medical record review of each medical encounter for the 10 years before and the 3 years after the incident IBS diagnosis. Specific attention was given to healthcare visits, tests, and treatment associated with documented gastrointestinal (GI) tract symptoms and diagnosis of IBS. Of 149 patients, 98 (66%) were women, and the mean patient age was 46.6 years. Patients averaged 4.7 healthcare visits annually, including 0.5 related to GI tract symptoms. Two thirds of patients had GI tract symptom-related visits at least 2 years before IBS diagnosis. Only 5% of IBS diagnoses were made by a gastroenterologist. Colon examinations (colonoscopy or barium enema) were performed on 47% of patients and were more common in those aged > or = 55 years (58% vs 36%; P = .02). One third of patients had no GI tract testing proximal to the IBS diagnosis. Following the IBS diagnosis, only about half the patients made any IBS or GI tract symptom-related visits per year. The path to diagnosis of IBS is through the primary care physician and includes minimal testing and limited follow-up care.

  4. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country

    Energy Technology Data Exchange (ETDEWEB)

    Petersen, M.B.; Brondum-Nielsen, K.; Hansen, L.K.; Wulff, K.

    1995-06-19

    Angelman syndrome (AS) was initially considered a rather rare abnormality, but in later years, with the possibilities for cytogenetic and molecular diagnosis an increasing number of patients have been reported. The incidence is quoted to be around 1:20,000. The etiology of AS is associated with the lack of maternal allele(s) of one or more loci at 15q11-q13, and is considered an effect of parental imprinting of that region, since a similar deficiency of paternal alleles leads to Prader-Willi syndrome. 9 refs., 1 tab.

  5. [Elements of a clinical differential diagnosis between Asperger syndrome and the schizoid/paranoid personality].

    Science.gov (United States)

    Mottron, Laurent; Soulières, Isabelle; Ménard, Edith

    2007-01-01

    Individuals with Asperger syndrome may, when exposed to hostility (e.g. bullying at school or at work), develop hostile ideas against their social environment, sometimes leading to aggression. These ideas and acts may be confounded with those arising from a persecutory state in schizoid or schizotypal personality, or even schizophrenia. These entities can be confounded with Asperger syndrome due to their permanent nature, and the presence of atypical social and emotional behaviours. This paper proposes cognitive (Wechsler profile), developmental (course of hostile behaviours), discursive (qualitative features of discourse reporting hostile thoughts), which may contribute to differential diagnosis in the presence of hostile thoughts and behaviours. Consequences for case management are also reported.

  6. Posterior reversible encephalopathy syndrome: the importance of early diagnosis.

    Science.gov (United States)

    Teotónio, Rute; Marmoto, Dina; Januário, Cristina; Bento, Conceição

    2012-09-17

    A 14-year-old boy was submitted to cardiac transplant due to a dilated cardiomyopathy. On the fourth day of immunosuppression (corticosteroids, mycophenolate mofetil and tacrolimus), he developed right focal seizures and drowsiness. Blood pressure was in the normal range and laboratory findings in cerebral spinal fluid and blood were unremarkable, with drugs in non-toxic levels. The EEG showed a slow background rhythm more pronounced on the right and a seizure onset in the right occipital region. MRI revealed a diffuse hyperintense subcortical white-matter lesion on fluid attenuated inversion recovery, with lesser involvement of left temporal-occipital region. There was no enhancement with gadolinium and MRI diffusion-weighted imaging was consistent with vasogenic oedema. Tacrolimus was stopped with regression of MRI abnormalities and clinical recovery. Posterior reversible encephalopathy associated with tacrolimus is a rare but potentially serious complication of solid organ transplants. A prompt diagnosis and correct treatment is essential to avoid irreversible brain damage.

  7. The differential diagnosis of multiple sclerosis: classification and clinical features of relapsing and progressive neurological syndromes.

    Science.gov (United States)

    Trojano, M; Paolicelli, D

    2001-11-01

    In the absence of pathognomonic clinical features or a definitive laboratory test, multiple sclerosis (MS) remains ultimately a diagnosis of exclusion. Accurate diagnosis is increasingly important with available disease modifying therapy. Unfortunately the rate of misdiagnosis remains around 5%-10%, indicating that 1 in 20 patients thought to have MS has, instead, a condition resembling MS. In this review we describe conditions that may be confused with MS because they can present as lesions disseminated in time, space, or both. Conditions often confused with MS may be inflammatory (systemic lupus erythematosus, Sjögren's syndrome, vasculitis, sarcoidosis, Behçet's disease), infectious (Lyme disease, syphilis, progressive multifocal leukoencephalopathy, HTLV-1 infection, herpes zoster), genetic (lysosomal disorders, adrenoleukodystrophy, mitochondrial disorders, CADASIL), metabolic (vitamin B12 deficiency), neoplastic (CNS lymphoma) and spinal (degenerative and vascular malformations) diseases. The key to the accurate diagnosis of MS is vigilance for atypical features, suggesting the possibility of an alternative diagnosis.

  8. Forensic and clinical diagnosis in "shaken baby syndrome", between child abuse and iatrogenic abuse

    Directory of Open Access Journals (Sweden)

    Roxana M. Duncea

    2017-04-01

    Full Text Available “Shaken baby syndrome” in child abuse cases is a challenge for pediatrician and forensic experts, often a diagnosis of exclusion, with overwhelming moral and legal implications. Diagnosis is based on: subdural bleeding, rupture of retinal vessels, traumatic diffuse axonal injury with diffuse brain encephalopathy in the absence of external traumatic injuries and anamnesis data of an accidentally head injury. Microscopic findings in diffuse axonal injuries were initially considered as a specific traumatic effect due to unrestricted movement and accelerated rotation of the head. Immunohistochemistry of beta amyloid protein precursor is gold standard method for identifying pathological diffuse axonal lesions, which is however nonspecific in brain trauma. In the diagnosis of this syndrome pediatricians and forensic examiners must take into account the particularities of each case, avoiding scientific speculation, to intuit controversies and always be familiar with the differential diagnosis.

  9. Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management.

    Science.gov (United States)

    Gonzalez Corcia, M Cecilia; de Asmundis, Carlo; Chierchia, Gian-Battista; Brugada, Pedro

    2016-08-01

    Brugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family's specific preferences.

  10. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  11. Pediatric Balint's Syndrome Variant: A Possible Diagnosis in Children

    Science.gov (United States)

    Mani, Sunithi Elizabeth; Dutton, Gordon N.

    2016-01-01

    Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7.4 years, [range 4−11 years]; birth weight ≤ 2.5 kg; four were born ≤ 36 weeks of gestational age and one at 40 weeks) who presented to the Cerebral Visual Impairment Clinic at a tertiary care center in South India with clinical features remarkably consistent with the above description. In all children neuroimaging showed bilateral parietooccipital gliosis with regional white matter volume loss and focal callosal thinning, consistent with perinatal hypoxic ischemic encephalopathy and possible neonatal hypoglycemia. PMID:27895948

  12. Xeroradiography in the diagnosis of the Haglund syndrome.

    Science.gov (United States)

    Burhenne, L J; Connell, D G

    1986-09-01

    Xeroradiography is the radiographic method of choice for assessment of soft tissues and calcaneal detail in patients suffering from a painful swelling localized in the heel. The radiographic triad of retrocalcaneal bursitis, superficial tendo Achillis bursitis, and Achilles tendon thickening, in the presence of an intact posterior superior calcaneal margin, are readily evaluated with xeroradiography. The Haglund syndrome is a painful inflammation involving the two bursae which surround the Achilles tendon. It is associated with a prominent posterior superior calcaneal margin. Of the two objective measurements devised to assess this prominence, neither the posterior calcaneal angle of Philip and Fowler of greater than 75 degrees nor the parallel pitch line (PPL) has proved to be a reliable index. In the present study, we evaluated four patients with heel pain and swelling as well as 100 control patients. The findings suggest that the prominence of the posterior calcaneal angle should be assessed relative to the known normal range rather than by comparison to a single fixed angulation which is arbitrarily designated as being abnormal.

  13. Kleine-Levin syndrome: Etiology, diagnosis, and treatment

    Directory of Open Access Journals (Sweden)

    Ramdurg Santosh

    2010-01-01

    Full Text Available Kleine-Levin syndrome (KLS is a rare sleep disorder mainly affecting teenage boys in which the main features are intermittent hypersomnolence, behavioral and cognitive disturbances, hyperphagia, and in some cases hypersexuality. Each episode is of brief duration varying from a week to 1-2 months and affected people are entirely asymptomatic between episodes. No definite cause has been identified, and no effective treatments are available even though illness is having well-defined clinical features. Multiple relapses occur every few weeks or months, and the condition may last for a decade or more before spontaneous resolution. In this study, PubMed was searched and appropriate articles were reviewed to highlight etiology, clinical features, and management of KLS. On the basis of this knowledge, practical information is offered to help clinicians about how to investigate a case of KLS, and what are the possible treatment modalities available currently for the treatment during an episode and interepisodic period for prophylaxis. Comprehensive research into the etiology, pathophysiology, investigation, and treatments are required to aid the development of disease-specific targeted therapies.

  14. Tricho-Dento-Osseous Syndrome: Diagnosis and Dental Management

    Directory of Open Access Journals (Sweden)

    Ola B. Al-Batayneh

    2012-01-01

    Full Text Available Tricho-dento-osseous (TDO syndrome is a rare, autosomal dominant disorder principally characterised by curly hair at infancy, severe enamel hypomineralization and hypoplasia and taurodontism of teeth, sclerotic bone, and other defects. Diagnostic criteria are based on the generalized enamel defects, severe taurodontism especially of the mandibular first permanent molars, an autosomal dominant mode of inheritance, and at least one of the other features (i.e., nail defects, bone sclerosis, and curly, kinky or wavy hair present at a young age that may straighten out later. Confusion with amelogenesis imperfecta is common; however, taurodontism is not a constant feature of any of the types of amelogenesis imperfecta. Management of TDO requires a team approach, proper documentation, and a long-term treatment and follow-up plan. The aim of treatment is to prevent problems such as sensitivity, caries, dental abscesses, and loss of occlusal vertical dimension through attrition of hypoplastic tooth structure. Another aim is to restore function of the dentition and enhance the esthetics and self-esteem of the patient. This paper proposes treatment approaches that include preventive, restorative, endodontic, prosthetic, and surgical options to management. In addition, it sheds light on the difficulties faced during dental treatment of such cases.

  15. The acute radiation syndrome: A study of ten cases and a review of the problem

    Energy Technology Data Exchange (ETDEWEB)

    Hempelmann, L.H.; Lisco, H.

    1950-03-17

    In this report ten cases of acute radiation syndrome are described resulting from two accidents occurring at the Los Alamos Scientific Laboratory of unique nature involving fissionable material. These cases are described in considerable detail. The report comprises ten sections. This volume, part II of the report, is comprised of sections entitled: (1) the Biological Basis for the Clinical Response seen in the Acute radiation Syndrome, (2) Clinical Signs and Symptoms, (3) Discussion of Hematological Findings, (4) Chemistry of the Blood and Urine, (5) Discussion of Pathological Findings, and (6) Reconsiderations of the Calculated Radiation Doses in Terms of the Observed Biological Response of the Patients. This report was prepared primarily for the clinician who is interested in radiation injuries and therefore emphasis has been placed on the correlation of clinical and pathological changes with the type of cytogenetic change known to be produced by ionizing radiation.

  16. 骨质疏松症证候诊断%Syndrome diagnosis of osteoporosis

    Institute of Scientific and Technical Information of China (English)

    张亚军; 张鹏; 刘忠厚

    2011-01-01

    目的 总结骨质疏松症的常见辨证分型及证候诊断.方法 从大量公开发表的文献、期刊及其他相关资料进行辨证分型及症状统计,总结并比较分析骨质疏松症中医证型的累积频率,结合专业知识,筛选出骨质疏松症的常见辨证分型及其症状.结果 按照累积频率的第25百分位数以上且出现相对频率由大到小共有7型,依次为肾阳亏虚型、肾阴亏虚型、瘀血阻络型、肝肾阴虚型、脾胃虚弱型、脾肾阳虚型和肾精亏虚型;通过剔除各证型累积频率为25%以下的症状和体征,得到各证型的主要症状和体征.结论 肾阳亏虚证、肾阴亏虚证、瘀血阻络证、肝肾阴虚证、脾胃虚弱证、脾肾阳虚证和肾精亏虚证为骨质疏松症的常见证候.%Objective To summarize the common syndrome differentiation typing and syndrome diagnosis for osteoporosis. Methods The cumulative frequency of osteoporosis in Chinese syndrome differentiation was summarized and compared from published literatures, journal articles, and other relevant information.Common osteoporosis syndrome types were screened combined with our professional knowledge. Results Seven types appeared in accordance with the cumulative frequency of more than 25 percentile. They were syndrome of deficiency of kidney yang, syndrome of deficiency of kidney yin, syndrome of blood stasis,syndrome of yin deficiency of liver and kidney, syndrome of deficiency of spleen and stomach, syndrome of yang deficiency of spleen and kidney, syndrome of deficiency of kidney essence, consecutively. Main symptoms and signs were obtained after exclusion of symptoms and signs with cumulative frequency below 25 percentages in each syndrome type. Conclusion The most common osteoporosis syndrome types were syndrome of deficiency of kidney yang, syndrome of deficiency of kidney yin, syndrome of blood stasis,syndrome of yin deficiency of liver and kidney, syndrome of deficiency of spleen and

  17. Diagnosis of PFAPA syndrome applied to a cohort of 17 adults with unexplained recurrent fevers.

    Science.gov (United States)

    Cantarini, Luca; Vitale, Antonio; Bartolomei, Beatrice; Galeazzi, Mauro; Rigante, Donato

    2012-01-01

    The pathophysiology of PFAPA syndrome, mainly characterised by regularly recurring periodic fevers associated with aphthous stomatitis, pharyngitis and/or lymphadenitis, and mostly occurring in the paediatric setting, resembles an acquired autoinflammatory disease. The description of PFAPA syndrome in adult patients is largely increasing. To recognise PFAPA syndrome in a group of adult patients evaluated for recurrent fevers in our Rheumatology Unit. To apply current diagnostic criteria for PFAPA syndrome in a group of 359 adults with unexplained recurrent fevers monitored in our Unit between January 2007 and June 2011. We have found 17 out of 359 patients fulfilling the diagnosis of PFAPA syndrome: these patients (10 males, 7 females) were Caucasian with a mean age of 33.3±9.5 years, had recurrent febrile episodes begun at a mean age of 25.9±8.3 years and a mean number of episodes of 8.3±5.2 per year with a mean duration of 5.5±1.8 days. In particular, 7/17 patients had the 3 cardinal signs, the other 10 had a combination of 2 signs. Corticosteroids were given in 14/17 patients; tonsillectomy was performed in 9/17 patients: corticosteroid responsiveness and tonsillectomy efficacy were observed respectively in 11 and 2 patients. Our case highlights the importance of considering PFAPA syndrome in adults presenting with unexplained recurrent fevers and symptoms commonly encountered in general medical practice.

  18. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.

    Science.gov (United States)

    Sepulveda, W; Sebire, N J; Souka, A; Snijders, R J; Nicolaides, K H

    1997-02-01

    Our purpose was to examine the feasibility of diagnosing the Meckel-Gruber syndrome at 11 to 14 weeks' gestation, both in high-risk pregnancies and during routine ultrasonographic screening for fetal chromosomal abnormalities. The high-risk population consisted of 9 pregnancies in 7 women with previous pregnancies affected by the Meckel-Gruber syndrome. At 11 to 14 weeks' gestation, systematic ultrasonographic examinations of the fetal skull, brain, kidneys, bladder, hands, and feet were undertaken in each case. The low-risk population consisted of 21,477 self-referred pregnancies undergoing first-trimester ultrasonographic screening for chromosomal defects at 11 to 14 weeks' gestation. The triad of fetal occipital encephalocele, bilateral polycystic kidneys, and postaxial polydactyly was detected by transabdominal ultrasonography and confirmed by transvaginal scanning in 4 of the 9 pregnancies in the high-risk group. The parents were counseled of the likely recurrence of the Meckel-Gruber syndrome, and all elected to terminate the pregnancy by transcervical evacuation at 12 to 13 weeks. In the low-risk population the only case of Meckel-Gruber syndrome was identified at 13 weeks; in the remaining screened pregnancies there were no other cases of termination of pregnancy or neonatal death with the diagnosis of Meckel-Gruber syndrome. This report demonstrates that the Meckel-Gruber syndrome can be confidently detected at the 11- to 14-week scan in both high- and low-risk populations.

  19. Delayed Diagnosis of Gastric Outlet Obstruction from Bouveret Syndrome in a Young Woman

    Directory of Open Access Journals (Sweden)

    Smith, Zachary

    2014-11-01

    Full Text Available Bouveret syndrome is a rare presentation of gastric outlet obstruction caused by a gallstone in the proximal duodenum via a bilioenteric fistula. This is an infrequent although clinically significant cause of abdominal pain, almost exclusively in the elderly. The clinical presentation is similar to that of a small bowel obstruction with abdominal pain, nausea and vomiting. Surgery or endoscopy is often required for definitive diagnosis and therapy. We describe the case of a young woman with this condition who had a delayed diagnosis in part because of her age and the rarity of the condition. [West J Emerg Med. 2015;16(1:151-153.

  20. [Restless legs syndrome and nocturnal leg pain : Differential diagnosis and treatment].

    Science.gov (United States)

    Hornyak, M; Stiasny-Kolster, K; Evers, S; Happe, S

    2011-09-01

    Pain in the legs belongs to the five most frequent regional pain symptoms. Restless legs syndrome (RLS) presents a particular differential diagnosis for pain in the legs, which is characterized by a nocturnal urge to move the legs often associated with painful sensations in the legs. It is one of the most common neurological disorders and probably the leading cause of nocturnal pain in the legs. In this overview, the diagnosis and therapy of RLS as well as aspects of pain therapy of the disorder are presented. In addition, the differential diagnoses for exclusion of other specific causes of nocturnal pain in the legs are discussed.

  1. Critical analysis of the manoeuvres proposed for the diagnosis of the tunnel carpal syndrome

    Directory of Open Access Journals (Sweden)

    T. Vangelista

    2011-09-01

    Full Text Available Carpal tunnel syndrome (CTS is the most common entrapment neuropathy. It is mainly due to the compression of median nerve at the wrist and it may be idiopathic or secondary to different rheumatic or non rheumatic diseases, including occupational activities. Since signs and symptoms of CTS are characteristic, a careful examination of the affected patient may be very satisfactory for the diagnosis, in particular by mean of some manoeuvres. In this review we described and commented the tests considered most useful in the diagnosis of CTS. We also analysed the diagnostic values of electromiography, the most important electrodiagnostic study for the CTS.

  2. "FISHed" out the diagnosis: A case of DiGeorge syndrome

    Directory of Open Access Journals (Sweden)

    S Bajaj

    2016-01-01

    Full Text Available Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot, hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge syndrome (DGS, a fluorescence in situ hybridization (FISH analysis for 22q11.2 deletion was made. The child had a hemizygous deletion in the 22q11.2 region, diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations. This case stresses the importance of a detailed physical examination and a high index of suspicion for diagnosing this genetic condition. Timely diagnosis can help manage and monitor these patients better and also offer prenatal diagnosis in the next pregnancy.

  3. Diagnosis and Treatment of Chronic Exertional Compartment Syndrome - a Proposition for an Algorithm

    DEFF Research Database (Denmark)

    Larsen, Peter Birk; Jensen, Steffen Skov

    Title: Diagnosis and treatment of chronic exertional compartment syndrome - a proposition for an algorithm based on case series of patients treated at Sports Medicine Division, Department of Orthopaedic Surgery, Viborg Regional Hospital, Denmark Background: Chronic exertional compartment syndrome...... that specific activity induced strain (SAIS) can be used to diagnose the specific affected compartments, and in this way be able to safely and effectively treat this disorder using endoscopic assisted selective fasciotomy (EASF). Materials and Methods: Retrospective follow-up study of 13 consecutive selected...... in conjunction with a thorough medical history formed the basis for the diagnosis. Results: 11 patients were offered surgical treatment consisting of EASF of the affected compartment (10 bilateral and 1 unilateral, 8 affected in specific compartments and 3 affected in all compartments. Only 1 patient required...

  4. The importance of proprioception in the diagnosis of cases thought to be Munchausen syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Nazim Karalezli

    2016-12-01

    Full Text Available Munchausen Syndrome is known as a condition where individuals who seek attention for themselves present at healthcare institutions with exaggerated complaints. Diagnosis can be difficult in some cases. In this paper are presented two cases of Munchausen Syndrome diagnosis by removing finger proprioception with local anesthetic based on incompatibility between trauma history and clinical findings. Evaluation of the resting position of the hand is primarily associated with proprioception. Sight and touch are important for proprioception. In patients thought to be potentially faking symptoms in areas where local anesthesia can be applied easily, such as the fingers, removing proprioception in the physical examination is important in diagnosing these individuals. [Hand Microsurg 2016; 5(3.000: 160-163

  5. Neurochemical Approaches in the Laboratory Diagnosis of Parkinson and Parkinson Dementia Syndromes: A Review

    OpenAIRE

    Jesse, Sarah; Steinacker, Petra; Lehnert, Stefan; Gillardon, Frank; Hengerer, Bastian; Otto, Markus

    2009-01-01

    The diagnosis of Parkinson disease (PD) is rendered on the basis of clinical parameters, whereby laboratory chemical tests or morphological imaging is only called upon to exclude other neurodegenerative diseases. The differentiation between PD and other diseases of the basal ganglia, especially the postsynaptic Parkinson syndromes multisystem atrophy (MSA) and progressive supranuclear palsy (PSP), is of decisive importance, on the one hand, for the response to an appropriate therapy, and on t...

  6. Value of ultrasonography in the diagnosis of polycystic ovary syndrome – literature review

    OpenAIRE

    Bachanek, Michał; Abdalla, Nebil; Cendrowski, Krzysztof; Sawicki, Włodzimierz

    2015-01-01

    Polycystic ovary syndrome is a multi-factorial disease. Its etiopathogenesis has not been elucidated in detail. It is the most common endocrine disorder in women of child-bearing age. This disease entity is primarily characterized by disrupted ovulation and hyperandrogenism, but the clinical picture can be diversified and symptom intensity can vary. Currently, the sonographic assessment of ovaries is one of the obligatory criteria for the diagnosis of PCOS according to the Rotterdam consensus...

  7. The role of radiological imaging in diagnosis and treatment of severe acute respiratory syndrome

    Institute of Scientific and Technical Information of China (English)

    张雪哲; 薛爱华

    2003-01-01

    @@ Severe acute respiratory syndrome (SARS) is a severe contagious disease. Based on the current etiological study, SARS-CoV is thought to be the cause of SARS,[1,2] and the disease is transmitted mainly by respiratory droplets within a near distance and close contactwith a patient's secretions. The diagnosis of SARS depends on epidemiologicalhistory, clinical symptoms and signs, laboratory tests, and imaging findings, all of which will be discussed in this report for better understanding and control of SARS.

  8. Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady

    Institute of Scientific and Technical Information of China (English)

    SHEA Yat-fung; LEE Chi-ho; Harinder Gill; CHOW Wing-sun; LAM Yui-ming; LUK Ho-ming; LAM Stephen Tak-sum; CHU Leung-wing

    2012-01-01

    We report a 32 year-old Chinese lady with history of tetralogy of Fallot,presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism.With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study.Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease,facial dysmorphism,intellectual disability and primary hypoparathyroidism.

  9. Unusual case of recurrent SMART (stroke-like migraine attacks after radiation therapy syndrome

    Directory of Open Access Journals (Sweden)

    Ramnath Santosh Ramanathan

    2016-01-01

    Full Text Available Stroke-like migraine attacks after radiation therapy (SMART syndrome is a rare delayed complication of cerebral radiation therapy. A 53-year-old female initially presented with headache, confusion and left homonymous hemianopia. Her medical history was notable for cerebellar hemangioblastoma, which was treated with radiation in 1987. Her initial brain MRI (magnetic resonance imaging revealed cortical enhancement in the right temporo-parieto-occipital region. She improved spontaneously in 2 weeks and follow-up scan at 4 weeks revealed no residual enhancement or encephalomalacia. She presented 6 weeks later with aphasia. Her MRI brain revealed similar contrast-enhancing cortical lesion but on the left side. Repeat CSF studies was again negative other than elevated protein. She was treated conservatively and recovered completely within a week. Before diagnosing SMART syndrome, it is important to rule out tumor recurrence, encephalitis, posterior reversible encephalopathy syndrome (PRES and stroke. Typically the condition is self-limiting, and gradually resolves.

  10. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

    Science.gov (United States)

    Castiñeyra, G; Panal, M; Lopez Presas, H; Goldschmidt, E; Sánchez, J M

    1992-01-01

    A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome. Images PMID:1619643

  11. [Lowe syndrome revealed by prenatal diagnosis of congenital cataract with brain abnormalities].

    Science.gov (United States)

    Zéphir, P; Decramer, S; Sartor, A; Vayssière, C

    2014-05-01

    Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is idiopathic in 50% of cases, hereditary forms representing 25% of cases. Other causes of congenital cataract are represented by viral embryofoetopathies acquired during pregnancy, metabolic disorders and chromosomal aberrations within the scope of malformative syndromes. The authors report the case of a neonatal diagnosis of Lowe syndrome suspected by the discovery of bilateral cataract initially isolated. The morphological exploration was completed by secondary brain abnormalities (periventricular lesions). The etiological prenatal exploration was negative. Lowe syndrome is a rare cause of antenatal cataract, which so far only one case has been reported.

  12. A case of Kartagener′s syndrome: Importance of early diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Sanjay Gupta

    2013-01-01

    Full Text Available Kartagener′s syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus are having Kartagener syndrome. We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case.

  13. A case of Kartagener′s syndrome: Importance of early diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Sanjay Gupta

    2012-01-01

    Full Text Available Kartagener′s syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus are having Kartagener syndrome. We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case.

  14. Diagnosis and prevention of overtraining syndrome: an opinion on education strategies

    Directory of Open Access Journals (Sweden)

    Kreher JB

    2016-09-01

    Full Text Available Jeffrey B Kreher Department of Orthopaedics, Division of Pediatric Orthopaedics, Massachusetts General Hospital and Massachusetts General Hospital for Children, Boston, MA, USA Abstract: Overtraining syndrome is a condition of maladapted physiology in the setting of excessive exercise without adequate rest. The exact etiology and pathogenesis are unknown and being investigated. Symptoms are multisystem in nature and often representative of underlying hormonal, immunologic, neurologic, and psychologic disturbances. Unfortunately, systematic review of the literature does not clearly direct diagnosis, management, or prevention. However, given the severity of symptoms and impairment to quality of life, prevention of overtraining syndrome should be considered by all who interact with endurance athletes. This article will provide suggestions for management of at-risk athletes despite absence of validated diagnostic tests and preventative measures. Keywords: overreaching, unexplained underperformance, burnout, muscle failure syndrome

  15. Scalded skin syndrome: Diagnosis, differential diagnosis, and management of 42 children.

    Science.gov (United States)

    Margileth, A M

    1975-04-01

    The bacteriologic, epidemiologic, clinical, and diagnostic findings and management of the scalded skin syndrome (SSS) in 42 children are reported SSS may present in one of three ways: (1) Ritter's disease in infants, characterized by an acute, generalized bullous dermatitis simulating the appearance of scalded skin, followed by exfoliation; (2) Lyell's disease, or toxic epidermal necrolysis (TEN), in children or adults, with scalded skin and bullae followed by extensive exfoliation; or (3) a nonstreptococcal scarlatiniform eruption, or staphylococcal scarlet fever, manifested by a generalized scarlatiniform erythema ans subsequent minimal to moderate fine desquamation. Staphylococcus aureus was isolated and implicated as the causative agent in 32 of the 42 children; nine of the other ten children had received a drug or vaccine preceding their rash. SSS in children has increased in frequency recently, is usually due to S aureus infection with potential epidemic aspects, can be recognized easily by its unusual clinical features, and has an excellent prognosis with appropriate management.

  16. Population Based Trends in the Incidence of Hospital Admission for the Diagnosis of Hepatorenal Syndrome: 1998–2011

    Directory of Open Access Journals (Sweden)

    Manish Suneja

    2016-01-01

    Full Text Available Background and Objectives. Hepatorenal syndrome carries a high risk of mortality. Understanding the incidence and mortality trends in hepatorenal syndrome will help inform future studies regarding the safety and efficacy of potential therapeutic interventions. Design and Methods. We conducted a retrospective cohort study using the Nationwide Inpatient Sample. We identified hospitalizations from January 1998–June 2011 with a primary diagnosis of hepatorenal syndrome. To characterize the incidence trends in monthly hepatorenal syndrome hospitalizations, we fit a piecewise linear model with a change point at January 2008. We examined hospital and patient characteristics before and after the change point. Results. Hospital admissions with a diagnosis of hepatorenal syndrome increased markedly between September of 2007 and March of 2008. Comparing patients who were admitted with a diagnosis of hepatorenal syndrome prior to 2008 with those after 2008, we found that length of stay increased while the mortality of patients admitted for hepatorenal syndrome decreased. Conclusion. The revision of the diagnostic criteria for hepatorenal syndrome may have contributed to the increase in the incidence of admissions for hepatorenal syndrome. However, the changes in the principles of hepatorenal syndrome management may have also contributed to the increase in incidence and lower mortality.

  17. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

    Science.gov (United States)

    Giugliani, Roberto; Villarreal, Martha Luz Solano; Valdez, C. Araceli Arellano; Hawilou, Antonieta Mahfoud; Guelbert, Norberto; Garzón, Luz Norela Correa; Martins, Ana Maria; Acosta, Angelina; Cabello, Juan Francisco; Lemes, Aída; Santos, Mara Lucia Schmitz Ferreira; Amartino, Hernán

    2014-01-01

    This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients’ responses. PMID:25071396

  18. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

    Directory of Open Access Journals (Sweden)

    Roberto Giugliani

    2014-06-01

    Full Text Available This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S, an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S (Elaprase®, Shire enzyme replacement therapy (ERT, designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.

  19. A Case of Pulmonary-Renal Syndrome Leading to the Diagnosis of Legionnaires' Disease.

    Science.gov (United States)

    Sabani, Erasmia; Sarafidis, Pantelis A; Lazaridis, Antonios; Kouloukourgiotou, Theodora; Stylianou, Konstantinos; Pantzaki, Afroditi; Papagianni, Aikaterini; Efstratiadis, Georgios

    2016-01-01

    We report a case of a 51-year-old Caucasian man referred at our department due to acute renal failure (ARF) complicating respiratory failure during hospitalization in a regional hospital. The patient was previously started on steroids due to the suspicion of rapidly progressive glomerulonephritis (RPGN) in the context of Goodpasture syndrome. However, clinical and laboratory findings did not support this diagnosis; instead a careful evaluation limited differential diagnosis of the renal insult to acute tubular necrosis or acute interstitial nephritis (AIN) following respiratory infection. With lung function fully improved but renal function not recovering, a renal biopsy revealed AIN, a finding leading to further diagnostic testing and finally to the diagnosis of Legionnaires' disease as a cause of this patient's pulmonary-renal syndrome. The management consisted of progressive tapering of oral steroids associated with full recovery of the patient's renal function. This is a rare case of Legionnaires' disease causing immune-mediated AIN and highlights the possibility of Legionella infection as a cause of pulmonary-renal syndrome.

  20. A Case of Pulmonary-Renal Syndrome Leading to the Diagnosis of Legionnaires’ Disease

    Directory of Open Access Journals (Sweden)

    Erasmia Sabani

    2016-01-01

    Full Text Available We report a case of a 51-year-old Caucasian man referred at our department due to acute renal failure (ARF complicating respiratory failure during hospitalization in a regional hospital. The patient was previously started on steroids due to the suspicion of rapidly progressive glomerulonephritis (RPGN in the context of Goodpasture syndrome. However, clinical and laboratory findings did not support this diagnosis; instead a careful evaluation limited differential diagnosis of the renal insult to acute tubular necrosis or acute interstitial nephritis (AIN following respiratory infection. With lung function fully improved but renal function not recovering, a renal biopsy revealed AIN, a finding leading to further diagnostic testing and finally to the diagnosis of Legionnaires’ disease as a cause of this patient’s pulmonary-renal syndrome. The management consisted of progressive tapering of oral steroids associated with full recovery of the patient’s renal function. This is a rare case of Legionnaires’ disease causing immune-mediated AIN and highlights the possibility of Legionella infection as a cause of pulmonary-renal syndrome.

  1. [Importance of the interdisciplinary, evidence-based diagnosis of polycystic ovary syndrome].

    Science.gov (United States)

    Gődény, Sándor; Csenteri, Orsolya

    2014-07-27

    Polycystic ovary syndrome is recognized as the most common hormonal and metabolic disorder of women. This heterogeneous endocrinopathy characterized by clinical and/or biochemical hyperandrogenism, oligo- or amenorrhoea, anovulatory infertility, and polycystic ovarian morphology. The prevalence, clinical feature and the risk of co-morbidity vary depending on the accuracy of the diagnosis and the criteria used. Evidence suggests that those women are at high risk who fulfil the criteria based on National Institute of Health. The complex feature of the syndrome and the considerable practice heterogeneity that is present with regards to diagnostic testing of patients who are suspected to have polycystic ovary syndrome require an interdisciplinary, evidence-based diagnostic approach. Such a method can ensure the patient safety and the effectiveness and efficiency of the diagnosis. This paper summarises the highest available evidence provided by well-designed studies, meta-analysis and systematic reviews of the clinical feature and the clinical implications of the diagnostic criteria of polycystic ovary syndrome.

  2. Whole Body Magnetic Resonance Imaging in the Diagnosis of Parsonage Turner Syndrome

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    Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S. [Cappagh National Orthopaedic Hospital Finglas, Dublin (Ireland)

    2004-08-01

    Purpose: To describe magnetic resonance imaging (MRI) findings in patients with suspected Parsonage Turner syndrome and to emphasize the value of an additional whole body MR scan to improve specificity of this diagnosis. Material and Methods: Three patients with proven Parsonage Turner syndrome referred for conventional MRI of the shoulder girdle and additional whole body turboSTIR MRI were included for study. Results: In each case, imaging revealed edema in the muscles of the shoulder girdle. Whole body turboSTIR MRI scan confirmed localized unilateral changes in each case improving specificity and confidence in the diagnosis of Parsonage Turner syndrome in each case. Conclusion: Whole body turboSTIR MR imaging is a useful diagnostic tool in the evaluation of patients with suspected Parsonage Turner syndrome. Inclusion of the brain, neck, brachial plexus, and extremity musculature at whole body imaging allows differentiation from polymyositis and elimination of additional causes of shoulder girdle pain and weakness including gross lesions in the brain, neck, and brachial plexus by a single non-invasive study.

  3. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

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    Hidekane Yoshimura

    Full Text Available Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using this technique combined with direct sequence analysis, we screened 17 unrelated Usher syndrome type 1 patients and detected probable pathogenic variants in the 16 of them (94.1% who carried at least one mutation. Seven patients had the MYO7A mutation (41.2%, which is the most common type in Japanese. Most of the mutations were detected by only the massively parallel DNA sequencing. We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance. This is the first report of Usher syndrome mutation analysis using massively parallel DNA sequencing and the frequency of Usher syndrome type 1 genes in Japanese. Mutation screening using this technique has the power to quickly identify mutations of many causative genes while maintaining cost-benefit performance. In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance.

  4. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia

    DEFF Research Database (Denmark)

    Storr, Helen L; Mitchell, J H; Swords, F M

    2004-01-01

    BACKGROUND: Primary nodular adrenocortical hyperplasia (PNAH) is a well recognized, but infrequently studied cause of paediatric Cushing's syndrome (CS). OBJECTIVE: To assess presentation, diagnosis, radiological imaging, treatment and molecular analysis of patients with childhood-onset CS due...

  5. Case report of physiotherapeutic care about patient with diagnosis of radicular syndrome with left L5 irritation

    OpenAIRE

    Ambrož, Ondřej

    2013-01-01

    Title of bachelors thesis: Case report of physiotherapeutic care about patient with diagnosis of radicular syndrome with left L5 irritation. Objective: Acquisition of theoretical and practical introduction to the herniated lumbar intervertebral disc and possible physiotherapy approaches used in this problem. Special part includes detailed case study of patient with the diagnosis of radicular syndrome with left L5 irritation. Summary: The general part focuses on theoretical knowledge of anatom...

  6. Intracranial Hypotension Syndrome, Diagnosis and Treatment in Radiology Clinics

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    S. Albayram

    2005-08-01

    Full Text Available Introduction & Background: Only 12 years ago the first report on pachymeningeal gadolinium enhance-ment in low-pressure headaches appeared in the lit-erature. Intracranial hypotension is a result of low CSF volume caused by either spontaneous or postoperative leakage. The syndrome has been reported to occur after head trauma, a tear in a spinal nerve root sheath, perineural cyst, or spinal arachnoid diverticulum. Iatrogenic causes include lumbar puncture or overdraining ventricular or spinal shunts. Spontaneous intracranial hypotension is thought to result from rupture of a spinal arachnoid membrane that allows CSF passage into the subdural or epidural space. It is typically not attributable to a major traumatic event or prior diagnostic or therapeutic intervention; however, intracranial hypotension may be associated with a history of minor trauma such as sports activities or severe coughing. Diffuse pachymeningeal enhancement is thought to reflect the Monro-Kellie rule, which describes the inverse relationship of CSF volume and intracranial blood volume within the rigid confines of the skull. This reflex mechanism protects nervous tissue by maintaining a constant buffer (ie, blood or CSF subjacent to its bony covering. Though this principle was described for intracranial processes and helps to explain the reason for intracranial pachymeningeal enhancement, it can also be applied to the bony spinal canal. Explaining pachymeningeal enhancement in the spine becomes more difficult because the hypervascular outer dural layer covering the brain does not extend to cover the spine, and the single layer of dura that does cover the spine is relatively avascular. Perhaps reports of pachymeningeal enhancement along the spinal canal in intracranial hypotension more accurately reflect prominent epidural venous engorgement. In all cases of intracranial hypotension reported in the literature, patients presented with headaches. These headaches are typically

  7. The role of autofluorescence colonoscopy in diagnosis and management of solitary rectal ulcer syndrome

    Science.gov (United States)

    Latos, W.; Kawczyk-Krupka, A.; Ledwon, A.; Kosciarz-Grzesiok, A.; Misiak, A.; Sieron-Stoltny, K.; Sieron, A.

    2008-02-01

    Solitary rectal ulcer syndrome (SRUS) is a chronic disease of the rectum. Although SRUS is a benign condition there are studies which suggest that chronic ischaemia which occurs in the SRUS may lead to "transitional mucosa" that is similar to that adjacent to colorectal carcinomas and adenomas and may lead to colorectal dysplasia and carcinoma development. The exclusion of primary or metastatic malignancy is the most important aim in the differential diagnosis of SRUS. In our study we assess the possibilities of autofluorescence colonoscopy (AFC) in diagnosis and management of SRUS. We performed white light colonoscopy first. The tissue samples were taken for pathological examination. When SRUS was histopathologically confirmed AFC was performed by means of Xillix OncoLIFE. During AFC numerical colour value (NCV) of autofluorescence of SRUS lesions was noted. During 1946 colonoscopies eight persons were diagnosed as having solitary rectal ulcer syndrome. We did not observe autofluorescence increase in case of polipoid and flat ulcer lesions (NCV 0,39-0,67; mean 0,525) and little increase of autofluorescence in case of erythema lesion (NCV- 0,94). SRUS is a rare disorder of the rectum but it causes differential diagnosis problems. The most common reason for incorrect diagnosis are inadequate tissue specimens. AFC allows to reveal subtle areas within the lesions of more intense autofluorescence and localizes the potential cancer-transformating dysplasia. In this way the most representative area with highest risk of pre- or cancerous changes, for biopsy specimen is indicated.

  8. Abdominal Cocoon Syndrome (Idiopathic Sclerosing Encapsulating Peritonitis: How Easy Is Its Diagnosis Preoperatively? A Case Report

    Directory of Open Access Journals (Sweden)

    Julius A. A. Awe

    2013-01-01

    Full Text Available The abdominal cocoon syndrome (or idiopathic encapsulating peritonitis is a rare cause of intestinal obstruction. It has been reported predominantly in adolescent girls living in tropical/subtropical region in which diagnosis is only made at laparotomy in most cases. The cause and pathogenesis of the condition have not been elucidated. Prolonged administration of practalol, meconium peritonitis, and tuberculous infection of the female genital tract have been incriminated as possible causes. The author reports a case of a female patient with recurrent intestinal obstruction treated for years but failed to settle down on conservative treatment during her last hospital admission and had to undergo surgery. Preoperative diagnosis of this syndrome as the cause of her intestinal obstruction was not made until at laparotomy, when a thick fibrotic peritoneal wrapping of the bowel in a concertina-like fashion with some adhesions was found. Excision of this membrane and adhesiolysis were carried out without any need for bowel resection, and this led to relief of the obstruction and patient’s complete recovery. Awareness of this benign condition in the differential diagnosis of intestinal obstruction will result in early diagnosis and correct management and prevent unnecessary bowel resections and bad outcomes.

  9. Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week.

    Science.gov (United States)

    Mittermayer, C; Lee, A; Brugger, P C

    2004-08-01

    The Meckel-Gruber syndrome (MKS) is a rare autosomal recessive disorder that is characterized by typical sonographical findings: occipital encephalocele, postaxial polydactyly and cystic enlargement of the kidneys. Its recurrence risk of 25 % demands an exact diagnosis. Retrospective analysis of the sonographic characteristics in relation to the gestational age in eight cases with the pathologic diagnosis of MKS. The sonographic characteristics depend on the gestational age. The classic trias was solely seen in the case diagnosed before 14 (th) week of gestation. In the other seven cases, diagnosed between the 17 (th) and 20 (th) week of gestational age, only two of three characteristic signs of MKS could be visualised by US. Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion. The Meckel-Gruber syndrome can be confidently detected and diagnosed by sonography at the 11th to 14th gestational week. Later in the pregnancy, severe oligohydramnion makes it more difficult to establish the diagnosis by US alone. In these cases a meticulous autopsy is necessary to establish the diagnosis of MKS.

  10. Kounis syndrome: an update on epidemiology, pathogenesis, diagnosis and therapeutic management.

    Science.gov (United States)

    Kounis, Nicholas G

    2016-10-01

    Kounis syndrome has been established as a hypersensitivity coronary disorder induced by various conditions, drugs, environmental exposures, foods and coronary stents. Allergic, hypersensitivity, anaphylactic and anaphylactoid reactions are associated with this syndrome. Vasospastic allergic angina, allergic myocardial infarction and stent thrombosis with occluding thrombus infiltrated by eosinophils and/or mast cells constitute are the three reported, so far, variants of this syndrome. Apart from coronary arteries, it affects the cerebral and mesenteric arteries. Its manifestations are broadening and its etiology is continuously increasing. Kounis syndrome is a ubiquitous disease which represents a magnificent natural paradigm and nature's own experiment in a final trigger pathway implicated in cases of coronary artery spasm and plaque rupture. Kounis syndrome seems to be not a rare disease but an infrequently diagnosed clinical entity which has revealed that the same mediators released from the same inflammatory cells are also present and in acute coronary events of non allergic etiology. These cells are not only present in the culprit region before plaque erosion or rupture but they release their contents just before an actual coronary event. Therefore, awareness of etiology, epidemiology, pathogenesis and clinical manifestations seems to be important for its prognosis, diagnosis, treatment, prevention.

  11. Differential diagnosis of cervical nerve compression syndrome of the external intervertebral foramen

    Institute of Scientific and Technical Information of China (English)

    WANG Jinwu; NI Weifeng; LI Qi; XU Jianguang; ZHU Haibo; ZHAO Binghui; GUO Shangchun; ZENG Bingfang

    2007-01-01

    The aim of the present research is to study the mechanism of cervical nerve compression syndrome of the external intervertebral foramen and its difierential diagnosis with cervical spondylosis.Diagnostic treatment with muscle relaxant,vasodilator,neurotrophic medicine and celecoxib (COX)-2 inhibitor were performed in 20 patients with cervical nerve compression syndrome of the external intervertebral foramen and 20 patients with cervical spondylosis confirmed by operation.Diagnostic local block therapy was performed additionally in cases showing little effect after diagnostic treatment.All the patients were followed up postoperatively for more than one year.Fifteen cases with cervical nerve compression syndrome of the external intervertebral foramen were healed by the diagnostic treatment.The other five cases had a short-term remission and there was no recurrence after diagnostic local block therapy.Diagnostic treatment led to short-term alleviation of the symptom in 20 cases with cervical spondylosis confirmed by operation,the results of which was far from satisfactory and operation was undertaken finally in all the 20 cases.The etiology of cervical nerve compression syndrome of the extemal intervertebral foramen lies in the compression of the cervical plexus,brachial plexus and cervical dorsal rami by the tendinous decussating fibers of the scalenus anticus,medius,minimus and the posterior muscles of the neck.Diagnostic treatment was propitious to differentiate cervical nerve compression syndrome of the external intervertebral foramen from cervical spondylosis.

  12. Infrared thermography based on artificial intelligence as a screening method for carpal tunnel syndrome diagnosis.

    Science.gov (United States)

    Jesensek Papez, B; Palfy, M; Mertik, M; Turk, Z

    2009-01-01

    This study further evaluated a computer-based infrared thermography (IRT) system, which employs artificial neural networks for the diagnosis of carpal tunnel syndrome (CTS) using a large database of 502 thermal images of the dorsal and palmar side of 132 healthy and 119 pathological hands. It confirmed the hypothesis that the dorsal side of the hand is of greater importance than the palmar side when diagnosing CTS thermographically. Using this method it was possible correctly to classify 72.2% of all hands (healthy and pathological) based on dorsal images and > 80% of hands when only severely affected and healthy hands were considered. Compared with the gold standard electromyographic diagnosis of CTS, IRT cannot be recommended as an adequate diagnostic tool when exact severity level diagnosis is required, however we conclude that IRT could be used as a screening tool for severe cases in populations with high ergonomic risk factors of CTS.

  13. Ocular versus cervical VEMPs in the diagnosis of superior semicircular canal dehiscence syndrome.

    Science.gov (United States)

    Zuniga, M Geraldine; Janky, Kristen L; Nguyen, Kimanh D; Welgampola, Miriam S; Carey, John P

    2013-01-01

    To determine whether cervical vestibular evoked myogenic potential (cVEMP) thresholds or ocular VEMP (oVEMP) amplitudes are more sensitive and specific in the diagnosis of superior semicircular canal dehiscence syndrome (SCDS). Prospective case-control study. Tertiary referral center. Twenty-nine patients with SCDS (mean age 48 yr; range, 31-66 yr) and 25 age-matched controls (mean age 48 yr; range, 30-66 yr). cVEMP and oVEMP in response to air-conducted sound. All patients underwent surgery for repair of SCDS. cVEMP thresholds; oVEMP n10 and peak-to-peak amplitudes. cVEMP threshold results showed sensitivity and specificity ranging from 80% to 100% for the diagnosis of SCDS. In contrast, oVEMP amplitudes demonstrated sensitivity and specificity greater than 90%. oVEMP amplitudes are superior to cVEMP thresholds in the diagnosis of SCDS.

  14. A Smart Tool for the Diagnosis of Parkinsonian Syndromes using Wireless Watches

    Directory of Open Access Journals (Sweden)

    Andreas Goll

    2014-11-01

    Full Text Available Early detection and diagnosis of Parkinson disease will provide a good chance for patients to take early actions and prevent its further development. In this paper, a smart tool for the diagnosis of Parkinsonian syndromes is designed and developed using low–cost Texas Instruments eZ430-Chronos wireless watches. With this smart tool, Parkinson Bradykinesia is detected based on the cycle of a human gait, with the watch worn on the foot, and Parkinson Tremor shaking is detected and differed by frequency 0 to 8 Hz on the arm in real-time with a developed statistical diagnosis chart. It can be used in small clinics as well as home environment due to its low-cost and easy-use property.

  15. Conservation of nucleotide sequences for molecular diagnosis of Middle East respiratory syndrome coronavirus, 2015.

    Science.gov (United States)

    Furuse, Yuki; Okamoto, Michiko; Oshitani, Hitoshi

    2015-11-01

    Infection due to the Middle East respiratory syndrome coronavirus (MERS-CoV) is widespread. The present study was performed to assess the protocols used for the molecular diagnosis of MERS-CoV by analyzing the nucleotide sequences of viruses detected between 2012 and 2015, including sequences from the large outbreak in eastern Asia in 2015. Although the diagnostic protocols were established only 2 years ago, mismatches between the sequences of primers/probes and viruses were found for several of the assays. Such mismatches could lead to a lower sensitivity of the assay, thereby leading to false-negative diagnosis. A slight modification in the primer design is suggested. Protocols for the molecular diagnosis of viral infections should be reviewed regularly after they are established, particularly for viruses that pose a great threat to public health such as MERS-CoV.

  16. Conservation of nucleotide sequences for molecular diagnosis of Middle East respiratory syndrome coronavirus, 2015

    Directory of Open Access Journals (Sweden)

    Yuki Furuse

    2015-11-01

    Full Text Available Infection due to the Middle East respiratory syndrome coronavirus (MERS-CoV is widespread. The present study was performed to assess the protocols used for the molecular diagnosis of MERS-CoV by analyzing the nucleotide sequences of viruses detected between 2012 and 2015, including sequences from the large outbreak in eastern Asia in 2015. Although the diagnostic protocols were established only 2 years ago, mismatches between the sequences of primers/probes and viruses were found for several of the assays. Such mismatches could lead to a lower sensitivity of the assay, thereby leading to false-negative diagnosis. A slight modification in the primer design is suggested. Protocols for the molecular diagnosis of viral infections should be reviewed regularly after they are established, particularly for viruses that pose a great threat to public health such as MERS-CoV.

  17. The diagnosis of hyper immunoglobulin e syndrome based on project management.

    Directory of Open Access Journals (Sweden)

    Shiva Saghafi

    2015-04-01

    Full Text Available Hyperimmunoglobulin E Syndrome (HIES is a complex primary immunodeficiency characterized by both immunologic and non-immunologic manifestations. High serum IgE level, eosinophilia, eczema, recurrent skin and lung infections constitute the immunologic profile of HIES, whereas characteristic facial appearance, scoliosis, retained primary teeth, joint hyperextensibility, bone fractures following minimal trauma and craniosynostosis are the main non-immunologic manifestations. The diagnosis of HIES cannot be made by routine immunologic tests. As the main characteristic laboratory abnormalities of this syndrome are highly elevated serum IgE levels and eosinophilia; both features have a broad spectrum of differential diagnosis. The purpose of this essay was presenting the best way for diagnosis management of HIES. Based on the genetic reports of patients of the Center for Chronic Immunodeficiency (CCI as a single center experience, and applying project management (PM in health care research projects, we sought the best way for a rapid diagnosis of HIES. The combination of project management principles with immunologic and genetic knowledge to better define the laboratory and clinical diagnosis lead to an improvement of the management of patients with HIES. These results are shown in one "Decision Tree" which is based on 342 genetic reports of the CCI during the past ten years. It is necessary to facilitate the diagnostic analysis of suspected HIES patients; applying project management in health care research projects provides a better and more accurate diagnosis eventually leading to a better patients' care. This Abstract was presented at 16th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2014, Prague, Czech Republic.

  18. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

    Science.gov (United States)

    Wigby, Kristen; D'Epagnier, Cheryl; Howell, Susan; Reicks, Amy; Wilson, Rebecca; Cordeiro, Lisa; Tartaglia, Nicole

    2016-11-01

    Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.

    Science.gov (United States)

    Glueckert, Rudolf; Rask-Andersen, Helge; Sergi, Consolato; Schmutzhard, Joachim; Mueller, Bert; Beckmann, Felix; Rittinger, Olaf; Hoefsloot, Lies H; Schrott-Fischer, Anneliese; Janecke, Andreas R

    2010-03-01

    CHARGE (Coloboma of the iris or retina, heart defects, atresia of the choanae, retardation of growth and/or development, genital anomalies, ear anomalies) syndrome (OMIM #214800) affects about 1 in 10,000 children and is most often caused by chromodomain helicase DNA-binding protein-7 (CHD7) mutations. Inner ear defects and vestibular abnormalities are particularly common. Specifically, semicircular canal (SCC) hypoplasia/aplasia and the presence of a Mondini malformation can be considered pathognomonic in the context of congenital malformations of the CHARGE syndrome. We obtained a temporal bone (TB) of a patient with CHARGE syndrome who died from bacteremia at 3 months of age. The clinical diagnosis was confirmed in the patient by direct DNA sequencing and the detection of a de novo, truncating CHD7 mutation, c.6169dup (p.R2057fs). We assessed changes of the TB and the degree of neural preservation, which may influence the potential benefit of cochlear implantation. The TB was analyzed using synchrotron radiation-based micro computed tomography, and by light microscopy. The vestibular partition consisted of a rudimentary vestibule with agenesis of the SCCs. The cochlea was hypoplastic with poor or deficient interscaling and shortened (Mondini dysplasia). The organ of Corti had near normal structure and innervation. Modiolus and Rosenthal's canal were hypoplastic with perikarya displaced along the axon bundles into the internal acoustic meatus, which may be explained by the arrest or limited migration and translocation of the cell nuclei into the cochlear tube during development.

  20. Churg-Strauss vasculitis and idiopathic hypereosinophyl syndrome: role of molecular biology in the differential diagnosis of hypereosinophyl syndrome

    Directory of Open Access Journals (Sweden)

    A. d'Ascanio

    2011-09-01

    Full Text Available Objective: Hypereosinophilic syndromes are a heterogeneous group of uncommon disorders characterized by the presence of marked peripheral blood eosinophilia, tissue eosinophilia, or both, resulting in a wide variety of clinical manifestations, often without an identifiable cause. Churg-Strauss syndrome is a systemic vasculitis characterized by prominent peripheral eosinophilia, asthma and systemic involvement. The presence of mild to severe eosinophilia and systemic involvement raise the search of many trigger factor that need to be ruled out. Distinguishing CSS from idiopathic hypereosinophilic syndrome may be particularly challenging, especially in ANCA negative patients. Methods: The aim of the present study was to present a small case series of patients referred to a Rheumatology Unit for mild to severe eosinophilia and signs and symptoms of systemic involvement and to outline the clinical significance of molecular biology in the work-up of hypereosinophilia. Results: Eleven patients with moderate to severe peripheral eosinophylia, were referred to our Unit from 1996 to 2007. Female to male ratio was 7/4, mean age 40.54 (range 22-75. Three out of eleven patients resulted positive for molecular biology. The diagnosis of idiopathic hypereosinophylia was confirmed in one out of three on the basis of the clinical picture and bone marrow biopsy. Conclusions: Molecular biology may be useful in the screening and in the follow-up of a new hypereosinophylic patient.

  1. Radiation-induced camptocormia and dropped head syndrome. Review and case report of radiation-induced movement disorders

    Energy Technology Data Exchange (ETDEWEB)

    Seidel, Clemens; Kuhnt, Thomas; Kortmann, Rolf-Dieter; Hering, Kathrin [Leipzig University, Department of Radiotherapy and Radiation Oncology, Leipzig (Germany)

    2015-10-15

    In recent years, camptocormia and dropped head syndrome (DHS) have gained attention as particular forms of movement disorders. Camptocormia presents with involuntary forward flexion of the thoracolumbar spine that typically increases during walking or standing and may severely impede walking ability. DHS is characterized by weakness of the neck extensors and a consecutive inability to extend the neck; in severe cases the head is fixed in a ''chin to chest position.'' Many diseases may underlie these conditions, and there have been some reports about radiation-induced camptocormia and DHS. A PubMed search with the keywords ''camptocormia,'' ''dropped head syndrome,'' ''radiation-induced myopathy,'' ''radiation-induced neuropathy,'' and ''radiation-induced movement disorder'' was carried out to better characterize radiation-induced movement disorders and the radiation techniques involved. In addition, the case of a patient developing camptocormia 23 years after radiation therapy of a non-Hodgkin's lymphoma of the abdomen is described. In total, nine case series of radiation-induced DHS (n = 45 patients) and - including our case - three case reports (n = 3 patients) about radiogenic camptocormia were retrieved. Most cases (40/45 patients) occurred less than 15 years after radiotherapy involving extended fields for Hodgkin's disease. The use of wide radiation fields including many spinal segments with paraspinal muscles may lead to radiation-induced movement disorders. If paraspinal muscles and the thoracolumbar spine are involved, the clinical presentation can be that of camptocormia. DHS may result if there is involvement of the cervical spine. To prevent these disorders, sparing of the spine and paraspinal muscles is desirable. (orig.) [German] In den letzten Jahren haben Bewegungsstoerungen von Wirbelsaeule und paraspinaler Muskulatur in

  2. "Attenuated psychotic symptoms syndrome" as a risk syndrome of psychosis, diagnosis in DSM-V: The debate.

    Science.gov (United States)

    Shrivastava, Amresh; McGorry, P D; Tsuang, Ming; Woods, Scott W; Cornblatt, Barbara A; Corcoran, Cheryl; Carpenter, William

    2011-01-01

    Schizophrenia is a common disorder, affecting approximately 1 out of every 100 people, with a typical onset during adolescence and early adulthood. The personal and societal costs of schizophrenia are extremely high. Prevention of schizophrenia, would offer substantial benefits to patients, their family members, and the community at large. The prodromal phase of schizophrenia has been recognized since the 19th century. At-risk individuals for psychosis and schizophrenia are the subjects who can provide information for intervention prior to development of frank psychosis. This approach is currently being investigated. The question remains, however, whether it can be a diagnostic category by itself. The proposal for including the risk syndrome is one of the recommendations by the working group on schizophrenia and psychotic disorders for the forthcoming DSM-V. There are differing views in academia regarding this proposal. Prior to becoming fully psychotic, a consistent literature demonstrates that patients generally had suffered from accelerating attenuated symptoms and distress. It is important that the prodromal phase be accurately recognized in order to accomplish the goal of prevention. We can then purposefully engage in early intervention aiming toward prevention. A recent strong resurgent interest in this area stems largely from two developments: First, the identification of the neurobiological deficit processes associated with the severity and chronicity of schizophrenia, and second, the development of reliable criteria for diagnosis. Although the general at-risk construct appears to offer great potential to advance both the treatment and research dealing with psychotic illnesses, it seems premature to many researchers to include the syndrome as an established entity in the text of the new DSM-V. It would be far more appropriate to include this proposed syndrome in the appendix and evaluate the many contemporary issues in future studies. The main issues

  3. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality).

    Science.gov (United States)

    Mansfield, C; Hopfer, S; Marteau, T M

    1999-09-01

    The aims of this systematic literature review are to estimate termination rates after prenatal diagnosis of one of five conditions: Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes, and to determine the extent to which rates vary across conditions and with year of publication. Papers were included if they reported (i) numbers of prenatally diagnosed conditions that were terminated, (ii) at least five cases diagnosed with one of the five specified conditions, and (iii) were published between 1980 and 1998. 20 papers were found which met the inclusion criteria. Termination rates varied across conditions. They were highest following a prenatal diagnosis of Down syndrome (92 per cent; CI: 91 per cent to 93 per cent) and lowest following diagnosis of Klinefelter syndrome (58 per cent; CI: 50 per cent to 66 per cent). Where comparisons could be made, termination rates were similar in the 1990s to those reported in the 1980s.

  4. Patterns of retinal damage facilitate differential diagnosis between Susac syndrome and MS.

    Directory of Open Access Journals (Sweden)

    Alexander U Brandt

    Full Text Available Susac syndrome, a rare but probably underdiagnosed combination of encephalopathy, hearing loss, and visual deficits due to branch retinal artery occlusion of unknown aetiology has to be considered as differential diagnosis in various conditions. Particularly, differentiation from multiple sclerosis is often challenging since both clinical presentation and diagnostic findings may overlap. Optical coherence tomography is a powerful and easy to perform diagnostic tool to analyse the morphological integrity of retinal structures and is increasingly established to depict characteristic patterns of retinal pathology in multiple sclerosis. Against this background we hypothesised that differential patterns of retinal pathology facilitate a reliable differentiation between Susac syndrome and multiple sclerosis. In this multicenter cross-sectional observational study optical coherence tomography was performed in nine patients with a definite diagnosis of Susac syndrome. Data were compared with age-, sex-, and disease duration-matched relapsing remitting multiple sclerosis patients with and without a history of optic neuritis, and with healthy controls. Using generalised estimating equation models, Susac patients showed a significant reduction in either or both retinal nerve fibre layer thickness and total macular volume in comparison to both healthy controls and relapsing remitting multiple sclerosis patients. However, in contrast to the multiple sclerosis patients this reduction was not distributed over the entire scanning area but showed a distinct sectorial loss especially in the macular measurements. We therefore conclude that patients with Susac syndrome show distinct abnormalities in optical coherence tomography in comparison to multiple sclerosis patients. These findings recommend optical coherence tomography as a promising tool for differentiating Susac syndrome from MS.

  5. Systematic review: accuracy of symptom-based criteria for diagnosis of irritable bowel syndrome in primary care

    NARCIS (Netherlands)

    Jellema, A.P.; Windt, van der D.A.W.M.; Schellevis, F.G.; Horst, van der H.E.

    2009-01-01

    BACKGROUND: Despite the trend towards making a positive diagnosis of irritable bowel syndrome (IBS), many health care providers approach IBS as a diagnosis of exclusion. AIM: To summarize available evidence on the diagnostic performance of symptom-based IBS criteria in excluding organic diseases,

  6. Systematic review: accuracy of symptom-based criteria for diagnosis of irritable bowel syndrome in primary care.

    NARCIS (Netherlands)

    Jellema, P.; Windt, D.A.W.M. van der; Schellevis, F.G.; Horst, H.E. van der

    2009-01-01

    BACKGROUND: Despite the trend towards making a positive diagnosis of irritable bowel syndrome (IBS), many health care providers approach IBS as a diagnosis of exclusion. AIM: To summarize available evidence on the diagnostic performance of symptom-based IBS criteria in excluding organic diseases,

  7. Pitfalls in the diagnosis of reversible cerebral vasoconstriction syndrome and primary angiitis of the central nervous system

    NARCIS (Netherlands)

    Koopman, K; Uyttenboogaart, M; Luijckx, G J; De Keyser, J; Vroomen, P C A J

    2007-01-01

    A case of a 51-year-old woman with reversible cerebral vasoconstriction syndrome (RCVS) without an associative cause is reported. Initially the diagnosis primary angiitis of the central nervous system (PACNS) was considered. Both diagnosis are rare and can mimic each other. Distinction between both

  8. A case with Trico-rhino-phalangeal syndrome type 1 case with a preliminary diagnosis of Juvenile rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Ömer Cevit

    2011-12-01

    Full Text Available Thrico-rhino-falangeal syndrome is a rare disease characterized by a bulbous nose, sparse hairs, a long flat philtrum, and epiphyseal coning. We describe here in a 15 year old girl with Thrico-rhino-falangeal syndrome type 1 (TRPS I. Physical examination demonstrated bulbous nose, hair abnormalities, deformity of the phalanges and winged scapulae. Genetic study and radiologic findings confirmed the diagnosis. Thrico-rhino-falangeal syndrome is characterized by musculoskeletal deformities that at the first view may simulate juvenile idiopathic arthritis. These musculoskeletal deformities could imply the differential diagnosis with juvenile idiopathic arthritis. J Clin Exp Invest 2011; 2 (4: 441-442

  9. Combined injury syndrome in space-related radiation environments

    Science.gov (United States)

    Dons, R. F.; Fohlmeister, U.

    The risk of combined injury (CI) to space travelers is a function of exposure to anomalously large surges of a broad spectrum of particulate and photon radiations, conventional trauma (T), and effects of weightlessness including decreased intravascular fluid volume, and myocardial deconditioning. CI may occur even at relatively low doses of radiation which can synergistically enhance morbidity and mortality from T. Without effective countermeasures, prolonged residence in space is expected to predispose most individuals to bone fractures as a result of calcium loss in the microgravity environment. Immune dysfunction may occur from residence in space independent of radiation exposure. Thus, wound healing would be compromised if infection were to occur. Survival of the space traveler with CI would be significantly compromised if there were delays in wound closure or in the application of simple supportive medical or surgical therapies. Particulate radiation has the potential for causing greater gastrointestinal injury than photon radiation, but bone healing should not be compromised at the expected doses of either type of radiation in space.

  10. The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.

    Science.gov (United States)

    Martino, Davide; Stamelou, Maria; Bhatia, Kailash P

    2013-06-01

    A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline, behavioural abnormalities and progressive disease course proves negative to the genetic testing for HD causative mutations, that is, IT15 gene trinucleotide-repeat expansion. The differential diagnosis of HD-like syndromes is complex and may lead to unnecessary and costly investigations. We propose here a guide to this differential diagnosis focusing on a limited number of clinical features ('red flags') that can be identified through accurate clinical examination, collection of historical data and a few routine ancillary investigations. These features include the ethnic background of the patient, the involvement of the facio-bucco-lingual and cervical district by the movement disorder, the co-occurrence of cerebellar features and seizures, the presence of peculiar gait patterns and eye movement abnormalities, and an atypical progression of illness. Additional help may derive from the cognitive-behavioural presentation of the patient, as well as by a restricted number of ancillary investigations, mainly MRI and routine blood tests. These red flags should be constantly updated as the phenotypic characterisation and identification of more reliable diagnostic markers for HD-like syndromes progress over the following years.

  11. Experience of the diagnosis and observation of a child with wolf-hirschhorn syndrome

    Directory of Open Access Journals (Sweden)

    L.V. Besh

    2017-03-01

    Full Text Available Modern data about the causes, course peculiarities, principles of diagnosis and symptomatic treatment of Wolf-Hirshhorn syndrome are given in the article. The description of own clinical case is presented. In most cases, there are multiple developmental abnormalities, in particular heart and kidney defects. External symptoms include: the unusual structure of the skull (“ancient warrior’s helmet”, straight bridge of the nose, moderately severe microcephaly, hypertelorism, small mouth with drooping corners, abnormal auricle’s forms, also cleft lip and cleft palate, eyeballs anomalies, hypospadias, feet deformity. Hemangiomas of the skin are often presented, they are usually flat, small and located on the face. Muscle hypotonia, significantly reduced reaction to external stimuli are revealed during the examination. The diagnosis is based on clinical changes and is confirmed by the DNA research. Deletion of the short arm of chromosome 4 is detected in approximately 80 % of probands. The description of own clinical observation of a child with Wolf-Hirshhorn syndrome, confirmed at the age of 3 months, is presented. Despite the early detection of the syndrome and prescribed appropriate therapy, the disease has a poor prognosis.

  12. Barriers to diagnosis of a rare neurological disorder in China--lived experiences of Rett syndrome families.

    Science.gov (United States)

    Lim, Faye; Downs, Jenny; Li, Jianghong; Bao, Xin-Hua; Leonard, Helen

    2012-01-01

    Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer have received a diagnosis. Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. Telephone interviews were conducted in Mandarin to explore pathways to a diagnosis of Rett syndrome in China and associated barriers. Families consulted multiple clinical centers and eventually received a diagnosis at a centrally located hospital. Over the course of this pathway, families encountered lack of knowledge and diagnostic expertise for Rett syndrome at local levels and a heavily over-burdened hospital system. There was a paucity of information available to guide management of this rare disorder after the diagnosis had been received. Our study suggests that the frustrations experienced by families could in part be addressed by the provision of information, education, and training related to Rett syndrome for clinicians, additional resources to allow clinicians to request genetic testing for confirmation of the clinical diagnosis and for information and support services for families.

  13. Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

    Science.gov (United States)

    Francoual, Jeanne; Trioche, Pascale; Mokrani, Chahnez; Seboui, Hassen; Khrouf, Naïma; Chalas, Jacqueline; Clement, Marina; Capel, Liliane; Tachdjian, Gérard; Labrune, Philippe

    2002-10-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.

  14. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  15. MRI versus CT in the diagnosis of Nelson`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kasperlik-Zaluska, A. [Department of Endocrinology, Centre of Postgraduate Medical Education, Ceglowska 80, 01-809 Warsaw (Poland); Walecki, J. [Imaging Department, Centre of Postgraduate Medical Education, Warsaw (Poland); Brzezinski, J. [Imaging Department, Centre of Postgraduate Medical Education, Warsaw (Poland); Jeske, W. [Department of Endocrinology, Centre of Postgraduate Medical Education, Ceglowska 80, 01-809 Warsaw (Poland); Migdalska, B. [Department of Endocrinology, Centre of Postgraduate Medical Education, Ceglowska 80, 01-809 Warsaw (Poland); Bonicki, W. [Department of Neurosurgery, Academy of Medicine, Warsaw (Poland); Brzezinska, A. [Department of Endocrinology, Centre of Postgraduate Medical Education, Ceglowska 80, 01-809 Warsaw (Poland); Makowska, A. [Department of Endocrinology, Centre of Postgraduate Medical Education, Ceglowska 80, 01-809 Warsaw (Poland)

    1997-02-01

    The purpose of the study was to evaluate the utility of MRI and CT in the diagnosis of Nelson`s syndrome, i. e. pituitary tumours in patients bilaterally adrenalectomized for Cushing`s disease. Thirteen patients, followed up for 5-29 years after adrenalectomy, were studied. In 6 of them CT and MRI revealed no changes in the pituitary gland. In the remaining 7 patients only three CT scans were suggestive of a pituitary adenoma. MRI studies with administration of gadodiamide confirmed the CT diagnosis of Nelson`s tumour in 3 patients and disclosed microadenomas in a further 4 patients. Neurosurgical treatment in 4 patients confirmed the MRI findings. Additionally CT and MRI examinations were performed in 5 patients suspected of a recurrent Nelson`s tumour 3-11 years after neurosurgery. MRI visualized recurrent adenomas in 3 patients that were not well seen by CT scans. In our experience MRI was more effective than CT in the diagnosis of Nelson`s syndrome. (orig.). With 3 figs., 1 tab.

  16. Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation

    Directory of Open Access Journals (Sweden)

    Monica Castro Varela

    2002-01-01

    Full Text Available Seventy-two patients with clinical diagnoses of Prader-Willi (PWS; n = 28 patients or Angelman syndromes (AS; n = 44 patients were submitted to chromosome analysis, SNRPN-SNURF exon 1 methylation assay, and microsatellite genotyping. Analysis of the methylation pattern confirmed the PWS diagnosis in 18 out of 28 patients and the AS diagnosis in 20 out of 44 patients. FISH and microsatellite analysis detected a deletion in 30 patients (14 PWS and 16 AS. Eight patients had normal FISH results (4 PWS and 4 AS; microsatellite markers showed that these patients had a uniparental disomy (UPD. Based on this study, we propose a strategy for the routine diagnosis of these syndromes that consists of the following steps: 1 methylation analysis, which does not require parental samples; 2 microsatellite genotyping of patient and parents to differentiate deletions, UPD and imprinting mutations; and 3 FISH for otherwise uninformative cases, and whenever parental samples are not available. Of the 34 patients whose PWS or AS diagnoses were not confirmed by laboratory tests, five presented a small extra marker chromosome, identified in three of them as an inv dup(15. One AS patient carried a balanced t(15;15 translocation associated with paternal UPD. Therefore G-banded chromosome analysis should be performed on all such patients, to detect possible structural rearrangements.

  17. Diagnosis of carpal tunnel syndrome: interobserver reliability of the blinded scratch-collapse test.

    Science.gov (United States)

    Blok, Robin D; Becker, Stéphanie J E; Ring, David C

    2014-06-01

    The reliability of the scratch-collapse test for diagnosis of carpal tunnel syndrome (CTS) has not been tested by independent investigators. This study measured the reliability of the scratch-collapse test comparing the treating hand surgeon and blinded evaluators. We performed a prospective observational study of 41 patients with a provisional diagnosis of CTS or a combination of CTS and cubital tunnel syndrome and prescribed electrodiagnostic testing. The treating hand surgeon performed the scratch-collapse test. Next, the test was administered by one of the six observers, unaware of the patient's symptoms and the diagnosis made by treating hand surgeon. The kappa statistic (κ) was used to calculate the interrater reliability between the treating hand surgeons and blinded scratchers. The agreement between the blinded observers and the hand surgeons on the scratch-collapse test was substantial 0.63 (95 % CI, 0.34-0.87; p scratch test in our sample was 32 %. In a small study with a spectrum bias favoring electrophysiologically confirmed CTS the reliability was lower than that reported by the inventors of the test, but was still substantial. We propose a larger study of patients with a greater variety of electrodiagnostic test results using fewer observers with more experience.

  18. Diagnosis and Management of Severe Acute Pancreatitis Complicated with Abdominal Compartment Syndrome

    Institute of Scientific and Technical Information of China (English)

    陶京; 王春友; 陈立波; 杨智勇; 许逸卿; 熊炯炘; 周峰

    2003-01-01

    Presented in this paper is our experience in the diagnosis and management of abdominal compartment syndrome during severe acute pancreatitis. On the basis of the history of severe acute pancreatitis, after effective fluid resuscitation, if patients developed renal, pulmonary and cardiac insufficiency after abdominal expansion and abdominal wall tension, ACS should be considered.Cystometry could be performed to confirm the diagnosis. Emergency decompressive celiotomy and temporary abdominal closure with a 3 liter sterile plastic bag must be performed. It is also critical to prevent reperfusion syndrome. In 23 cases of ACS, 18 cases received emergency decompressive celiotomy and 5 cases did not. In the former, 3 patients died (16.7 %) while in the later, 4 (80%)died. Total mortality rate was 33.3% (7/21). In 7 death cases, 4 patients developed acute obstructive suppurative cholangitis (AOSC). All the patients who received emergency decompressive celiotomy 5 h after confirmation of ACS survived. The definitive abdominal closure took place mostly 3 to 5 days after emergency decompressive celiotomy, with longest time being 8 days. 6 cases of ACS at infection stage were all attributed to infected necrosis in abdominal cavity and retroperitoneum. ACS could occur in SIRS stage and infection stage during SAP, and has different pathophysiological basis. Early diagnosis, emergency decompressive celiotomy and temporary abdominal closure with a 3L sterile plastic bag are the keys to the management of the condition.

  19. Asperger syndrome in males over two decades: stability and predictors of diagnosis.

    Science.gov (United States)

    Helles, Adam; Gillberg, Carina I; Gillberg, Christopher; Billstedt, Eva

    2015-06-01

    To examine the diagnostic stability of a childhood diagnosis of Asperger Syndrome (AS) into adulthood in a prospective longitudinal study, and identify the predictors of stability. One hundred males with AS diagnosed in childhood (T0) according to Gillberg's AS criteria, were followed up prospectively into adulthood over an average of 19 years (range 13-26 years). Fifty males (mean age 30 years) participated in this second follow-up (T2) of the cohort. Seventy-six had participated in a previous follow-up (T1) at mean age 22 years (47 participated in both follow-ups). Diagnosis at T2 was assessed using three sets of diagnostic criteria (Gillberg's AS criteria, DSM-IV Pervasive Developmental Disorder (PDD) and DSM-5 Autism Spectrum Disorder (ASD) criteria) and compared to previous assessments. Background predictors of diagnostic stability were analyzed. General functioning at T2 was assessed and compared to T1. There was a decline in the stability of AS diagnosis over time, the rate dropping from 82% at T1 to 44% at T2, when using the Gillberg criteria. There was also a significant decrease in the rate of cases fulfilling any PDD diagnosis according to the DSM-IV, from 91% at T1 to 76% at T2 in the 47 cases followed up twice. Severity of autism spectrum symptoms at T1 was the main predictor of diagnostic stability at T2. Twenty percent of those meeting criteria for a PDD diagnosis according to DSM-IV, did not meet DSM-5 ASD criteria although they had marked difficulties in everyday life. Asperger Syndrome, when considered as an ASD/PDD diagnosis, was fairly stable into adulthood, but there was a significant increase over time in cases no longer meeting criteria for an ASD diagnosis according to the DSM-IV, or AS according to the Gillberg criteria. Cases with a stable diagnosis showed significantly more core ASD symptoms in adolescence/young adulthood. © 2014 Association for Child and Adolescent Mental Health.

  20. Biological dosimetry by the triage dicentric chromosome assay: potential implications for treatment of acute radiation syndrome in radiological mass casualties.

    Science.gov (United States)

    Romm, Horst; Wilkins, Ruth C; Coleman, C Norman; Lillis-Hearne, Patricia K; Pellmar, Terry C; Livingston, Gordon K; Awa, Akio A; Jenkins, Mark S; Yoshida, Mitsuaki A; Oestreicher, Ursula; Prasanna, Pataje G S

    2011-03-01

    Biological dosimetry is an essential tool for estimating radiation dose. The dicentric chromosome assay (DCA) is currently the tool of choice. Because the assay is labor-intensive and time-consuming, strategies are needed to increase throughput for use in radiation mass casualty incidents. One such strategy is to truncate metaphase spread analysis for triage dose estimates by scoring 50 or fewer metaphases, compared to a routine analysis of 500 to 1000 metaphases, and to increase throughput using a large group of scorers in a biodosimetry network. Previously, the National Institutes for Allergies and Infectious Diseases (NIAID) and the Armed Forces Radiobiology Research Institute (AFRRI) sponsored a double-blinded interlaboratory comparison among five established international cytogenetic biodosimetry laboratories to determine the variability in calibration curves and in dose measurements in unknown, irradiated samples. In the present study, we further analyzed the published data from this previous study to investigate how the number of metaphase spreads influences dose prediction accuracy and how this information could be of value in the triage and management of people at risk for the acute radiation syndrome (ARS). Although, as expected, accuracy decreased with lower numbers of metaphase spreads analyzed, predicted doses by the laboratories were in good agreement and were judged to be adequate to guide diagnosis and treatment of ARS. These results demonstrate that for rapid triage, a network of cytogenetic biodosimetry laboratories can accurately assess doses even with a lower number of scored metaphases.

  1. Revisiting of etiology, clinical picture and diagnosis of the Kleine-Levin syndrome.

    Directory of Open Access Journals (Sweden)

    Ulyanova О.V.

    2017-03-01

    Full Text Available Objective: to draw the attention to the Kleine - Levin syndrome (SKL, a rare, poorly understood disease, not only in Russia but throughout the world. We analyzed the case of the 23-year old patient M, with the Kleine — Levin syndrome. SKL belongs to the group of recurrent hypersomnia and is characterized by long bouts of sleep lasting an average of 10-14 days, beginning with the imperative and difficulty awakening. During bouts of sleep observed unusual behavior of patients: hyperphagia; hypersexuality in males; irritability, restlessness, impaired mental activity; aggression; feeling of unreality of it all; confusion, hallucinatory episodes and depression in females. During wakefulness, marked dyspho-ria, emotional stupefaction, loss of memory. The syndrome develops in 4 times more often in men than in women, aged 12-25 years. Etiological factors: brain tumor, head trauma, metabolic disorders, acute infectious diseases with fever. Often the development of the syndrome is preceded by hyperemia and hypothalamic-pituitary dysfunction. The article discussed the etiology, diagnosis, and possible combinations of clinical manifestations in SKL.

  2. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

    Science.gov (United States)

    Vallespín, Elena; Villaverde, Cristina; Martín-Arenas, Rubén; Vélez-Monsalve, Camilo; Lorda-Sánchez, Isabel; Nevado, Julián; Trujillo-Tiebas, María José; Lapunzina, Pablo; Ayuso, Carmen; Corton, Marta

    2017-01-01

    Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus. Our approach increased the detection rate in a Spanish cohort of 38 patients with aniridia, WAGR syndrome and other related ocular malformations, allowing to characterize four undiagnosed aniridia cases, and to confirm MLPA findings in four additional patients. For all patients, breakpoints were accurately established and a contiguous deletion syndrome, involving a large number of genes, was identified in three patients. Moreover, we identified novel microdeletions affecting 3' PAX6 regulatory regions in three families with isolated aniridia. This tool represents a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a more accurate CNVs detection, as well as a better delineation of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns and those without defects in PAX6 after diagnostic screening. PMID:28231309

  3. A diagnosis-based health economic analysis of postural orthostatic tachycardia syndrome in Chinese children

    Institute of Scientific and Technical Information of China (English)

    LI Ya-wen; DENG Wen-jun; ZHANG Feng-wen; DU Jun-bao; JIN Hong-fang

    2011-01-01

    Background Postural orthostatic tachycardia syndrome (POTS) is a common clinical problem in children and adolescents.The previous diagnostic approach to POTS of children and adolescents is based on a series of tests to exclude all other causes,which is time and medical resource consuming.Recently,a new diagnostic approach has been developed.The present study was designed to statistically analyze the results of clinical investigation items and the cost for the diagnosis of POTS in children patients,and evaluate cost changes in the diagnosis of POTS.Methods A total of 315 children patients were divided into two groups according to diagnosis period,including group Ⅰdiagnosed in 2002-2006 (100 cases) and group Ⅱ in 2007-2010 (215 cases) and the diagnostic item-based distribution of the cost was analyzed.The diagnostic costs were compared between two groups using SPSS17.0.Results The per-capita cost of diagnosis in group Ⅰ was (621.95±21.10) Yuan,costs of diagnostic tests (head-up tilt test,standing test,etc) accounted for 8.68% and the exclusive tests for 91.32%.The per-capita cost of diagnosis in group Ⅱwas (542.69±23.14) Yuan,diagnostic tests accounted for 10.50% and exclusive tests for 89.50%.Comparison of the total cost of diagnostic tests between the two groups showed significant differences (P <0.05).Conclusion The cost of POTS diagnosis has been declined in recent years,but the cost of exclusive diagnosis is still its major part.

  4. Rare case of spot diagnosis of nephrotic syndrome in a Saudi male

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    A Askar

    2011-01-01

    Full Text Available A 26- year- old Saudi male school teacher presented with clinical features of nephrotic syndrome. Physical examination revealed loss of subcutaneous fat over the face and upper arms (partial lipodystrophy and drusen in both eyes. The serum level of complement C3 was low, with normal C4. Renal biopsy revealed features consistent with membranoproliferative glomerulo- nephritis (MPGN type II [Dense Deposit Disease (DDD]. He was treated with prednisolone and mycophenolate mofetil with partial remission. He also received lipitor and lisinopril. The occurrence of partial lipo- dystrophy and drusen in a patient with nephrotic syndrome provides a rare clinical opportunity of making a bedside diagnosis of type II MPGN even before kidney biopsy.

  5. Usefulness of diastolic color kinesis imaging at rest in the diagnosis of acute coronary syndrome.

    Science.gov (United States)

    Odo, Takafumi; Muro, Takashi; Odo, Kyoko; Kikuda, Kenji; Tamimoto, Ayako; Najima, Chiyo; Sakaino, Naritsugu; Yoshiyama, Minoru

    2009-04-01

    The authors report two cases of acute coronary syndrome diagnosed by diastolic color kinesis imaging (CKI), an echocardiographic technique facilitating regional left ventricular wall motion analysis. Although both patients had experienced chest pain within the previous several days, the pain had remitted prior to visiting the clinic. In addition, neither electrocardiography nor routine echocardiography revealed ischemic changes. However, diastolic CKI clearly showed regional diastolic asynchrony of the left ventricle. Coronary angiography revealed significant stenosis compatible with the region of diastolic asynchrony observed on diastolic CKI. The patients underwent successful coronary revascularization, and diastolic asynchrony disappeared after revascularization. These findings suggest that diastolic CKI is useful for the diagnosis of acute coronary syndrome, even at rest and in the absence of chest pain.

  6. Diagnostic accuracy at several reduced radiation dose levels for CT imaging in the diagnosis of appendicitis

    Science.gov (United States)

    Zhang, Di; Khatonabadi, Maryam; Kim, Hyun; Jude, Matilda; Zaragoza, Edward; Lee, Margaret; Patel, Maitraya; Poon, Cheryce; Douek, Michael; Andrews-Tang, Denise; Doepke, Laura; McNitt-Gray, Shawn; Cagnon, Chris; DeMarco, John; McNitt-Gray, Michael

    2012-03-01

    Purpose: While several studies have investigated the tradeoffs between radiation dose and image quality (noise) in CT imaging, the purpose of this study was to take this analysis a step further by investigating the tradeoffs between patient radiation dose (including organ dose) and diagnostic accuracy in diagnosis of appendicitis using CT. Methods: This study was IRB approved and utilized data from 20 patients who underwent clinical CT exams for indications of appendicitis. Medical record review established true diagnosis of appendicitis, with 10 positives and 10 negatives. A validated software tool used raw projection data from each scan to create simulated images at lower dose levels (70%, 50%, 30%, 20% of original). An observer study was performed with 6 radiologists reviewing each case at each dose level in random order over several sessions. Readers assessed image quality and provided confidence in their diagnosis of appendicitis, each on a 5 point scale. Liver doses at each case and each dose level were estimated using Monte Carlo simulation based methods. Results: Overall diagnostic accuracy varies across dose levels: 92%, 93%, 91%, 90% and 90% across the 100%, 70%, 50%, 30% and 20% dose levels respectively. And it is 93%, 95%, 88%, 90% and 90% across the 13.5-22mGy, 9.6-13.5mGy, 6.4-9.6mGy, 4-6.4mGy, and 2-4mGy liver dose ranges respectively. Only 4 out of 600 observations were rated "unacceptable" for image quality. Conclusion: The results from this pilot study indicate that the diagnostic accuracy does not change dramatically even at significantly reduced radiation dose.

  7. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    Science.gov (United States)

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  8. [Intelligent systems tools in the diagnosis of acute coronary syndromes: A systemic review].

    Science.gov (United States)

    Sprockel, John; Tejeda, Miguel; Yate, José; Diaztagle, Juan; González, Enrique

    2017-03-27

    Acute myocardial infarction is the leading cause of non-communicable deaths worldwide. Its diagnosis is a highly complex task for which modeling through automated methods has been attempted. A systematic review of the literature of diagnostic tests that applied intelligent systems tools in the diagnosis of acute coronary syndromes. This manuscript presents a systematic review of the literature from the Medline, Embase, Scopus, IEEE/IET Electronic Library, ISI Web Of Science, Latindex and LILACS databases that includes the diagnostic evaluation of acute coronary syndromes through intelligent systems. The review process was conducted independently by 2 reviewers, and discrepancies were resolved through the participation of a third person. The operational characteristics of the studied tools were extracted. In total, 35 references met the inclusion criteria. In 22 (62.8%) cases, neural networks were used. In five studies, the performances of several intelligent systems tools were compared. Thirteen studies sought to perform diagnoses of all acute coronary syndromes, and in 22, only infarctions were studied. In 21 cases, clinical and electrocardiographic aspects were used as input data; in 10, only electrocardiographic data were used. Most intelligent systems use the clinical context as a reference standard. High rates of diagnostic accuracy were found with better performance using neural networks and support vector machines compared with statistical tools of pattern recognition and decision trees. We found extensive evidence that approaches using intelligent systems tools achieve a greater degree of accuracy than some clinical algorithms or scales and, thus, should be considered appropriate tools for supporting diagnostic decisions of acute coronary syndromes. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  9. Diagnosis and therapy for POEMS syndrome%POEMS综合征的诊断和治疗

    Institute of Scientific and Technical Information of China (English)

    周道斌; 李剑

    2014-01-01

    POEMS综合征是一种罕见的浆细胞疾病,近年来在POEMS的诊断和治疗方面都取得了很大进展。本文将重点阐述POEMS综合征的诊断标准以及早期诊断的要点。在治疗方面,自体造血干细胞移植由于其较好的疗效已经成为年轻POEMS综合征患者的一线治疗。马法兰联合地塞米松也有着较高的缓解率和很好的安全性,可以作为老年或其他不适合移植患者的治疗选择。新药例如来那度胺等给POEMS综合征患者提供了更多的治疗选择。%POEMS syndrome is a rare clonal plasma cell disease characterized by polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes. Significant advances have been made in the diagnosis and treatment of POEMS syndrome over the last decade. In this study, we reviewed the diagnostic criteria and characteristic features of POEMS syndrome. We also focused on the role of the characteristic features of POEMS syndrome in early diagnosis. Autologous peripheral blood stem cell transplantation has become the first-line treatment for younger patients with normal organ function because it has resulted in a high response rate and durable remission. Melphalan and dexamethasone is an effective and well-tolerated treatment for older patients and those with organ dysfunction. Patients with poor performance status or renal function can benefit from novel agents that can also improve transplantation eligibility.

  10. Immuno-therapy of Acute Radiation Syndromes : Extracorporeal Immuno-Lympho-Plasmo-Sorption.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Methods Results Summary and conclusions Introduction: Existing Medical Management of the Acute Radiation Syndromes (ARS) does not include methods of specific immunotherapy and active detoxication. Though the Acute Radiation Syndromes were defined as an acute toxic poisonous with development of pathological processes: Systemic Inflammatory Response Syndrome (SIRS), Toxic Multiple Organ Injury (TMOI), Toxic Multiple Organ Dysfunction Syndrome(TMODS), Toxic Multiple Organ Failure (TMOF). Radiation Toxins of SRD Group play an important role as the trigger mechanisms in development of the ARS clinical symptoms. Methods: Immuno-Lympho-Plasmo-Sorption is a type of Immuno-therapy which includes prin-ciples of immunochromato-graphy, plasmopheresis, and hemodialysis. Specific Antiradiation Antitoxic Antibodies are the active pharmacological agents of immunotherapy . Antiradia-tion Antitoxic Antibodies bind selectively to Radiation Neurotoxins, Cytotoxins, Hematotox-ins and neutralize their toxic activity. We have developed the highly sensitive method and system for extracorporeal-immune-lypmh-plasmo-sorption with antigen-specific IgG which is clinically important for treatment of the toxic and immunologic phases of the ARS. The method of extracorporeal-immune-lypmh-plasmo-sorption includes Antiradiation Antitoxic Antibodies (AAA) immobilized on microporous polymeric membranes with a pore size that is capable to provide diffusion of blood-lymph plasma. Plasma of blood or lymph of irradiated mammals contains Radiation Toxins (RT) that have toxic and antigenic properties. Radiation Toxins are Antigen-specific to Antitoxic blocking antibodies (Immunoglobulin G). Plasma diffuses through membranes with immobilized AAA and AA-antibodies bind to the polysaccharide chain of tox-ins molecules and complexes of AAA-RT that are captured on membrane surfaces. RT were removed from plasma. Re-transfusion of plasma of blood and lymph had been provided. We show a statistical significant

  11. Bone marrow stromal cell transplantation mitigates radiation-induced gastrointestinal syndrome in mice.

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    Subhrajit Saha

    Full Text Available BACKGROUND: Nuclear accidents and terrorism presents a serious threat for mass casualty. While bone-marrow transplantation might mitigate hematopoietic syndrome, currently there are no approved medical countermeasures to alleviate radiation-induced gastrointestinal syndrome (RIGS, resulting from direct cytocidal effects on intestinal stem cells (ISC and crypt stromal cells. We examined whether bone marrow-derived adherent stromal cell transplantation (BMSCT could restitute irradiated intestinal stem cells niche and mitigate radiation-induced gastrointestinal syndrome. METHODOLOGY/PRINCIPAL FINDINGS: Autologous bone marrow was cultured in mesenchymal basal medium and adherent cells were harvested for transplantation to C57Bl6 mice, 24 and 72 hours after lethal whole body irradiation (10.4 Gy or abdominal irradiation (16-20 Gy in a single fraction. Mesenchymal, endothelial and myeloid population were characterized by flow cytometry. Intestinal crypt regeneration and absorptive function was assessed by histopathology and xylose absorption assay, respectively. In contrast to 100% mortality in irradiated controls, BMSCT mitigated RIGS and rescued mice from radiation lethality after 18 Gy of abdominal irradiation or 10.4 Gy whole body irradiation with 100% survival (p<0.0007 and p<0.0009 respectively beyond 25 days. Transplantation of enriched myeloid and non-myeloid fractions failed to improve survival. BMASCT induced ISC regeneration, restitution of the ISC niche and xylose absorption. Serum levels of intestinal radioprotective factors, such as, R-Spondin1, KGF, PDGF and FGF2, and anti-inflammatory cytokines were elevated, while inflammatory cytokines were down regulated. CONCLUSION/SIGNIFICANCE: Mitigation of lethal intestinal injury, following high doses of irradiation, can be achieved by intravenous transplantation of marrow-derived stromal cells, including mesenchymal, endothelial and macrophage cell population. BMASCT increases blood levels of

  12. Dumping Syndrome: A Review of the Current Concepts of Pathophysiology, Diagnosis, and Treatment.

    Science.gov (United States)

    Berg, Patrick; McCallum, Richard

    2016-01-01

    Gastric surgery has long been known to be a cause of dumping syndrome (DS). However, the increasing incidence of gastric bypass surgery, as well as reports of DS unrelated to previous gastric surgeries, has increased the importance of understanding DS in recent years. DS is due to the gastrointestinal response to voluminous and hyperosmolar chyme that is rapidly expelled from the stomach into the small intestine. This response involves neural and hormonal mechanisms. This review encompasses the symptoms, diagnosis, and treatment approaches of DS and also focuses on the current research status of the pathophysiology of DS.

  13. Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

    Science.gov (United States)

    Piotrowski, Krzysztof; Halec, Wojciech; Wegrzynowski, Jerzy; Pietrzyk, Aleksandra; Henkelman, Małgorzata; Zajaczek, Stanisław

    2014-01-01

    Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

  14. Sjögren-Larsson syndrome: importance of early diagnosis and aggressive physiotherapy.

    Science.gov (United States)

    Kathuria, Sushruta; Arora, Shikha; Ramesh, V

    2012-09-15

    Sjögren-Larsson syndrome (SLS) is a congenital ichthyotic disorder with spasticity. We describe a case of a 5-year-old boy with SLS diagnosed clinically based on congenital ichythosis, quadriplegia, and mental retardation. The child responded well to emollients and antihistamines. His quadriplegia was managed by aggressive physiotherapy and mental retardation by stimulation techniques. After a 3-year follow up, significant improvement was seen in his motor and mental disability. This case highlights the importance of clinical diagnosis and early intervention for such a disabling disorder.

  15. Polycystic ovary syndrome: a review for dermatologists: Part I. Diagnosis and manifestations.

    Science.gov (United States)

    Housman, Elizabeth; Reynolds, Rachel V

    2014-11-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder among women who are of reproductive age. The pathogenesis involves several associated hormonal pathways that culminate in metabolic, reproductive, and cardiovascular effects. The hallmark features of hyperandrogenism and hyperinsulinemia have systemic long-term implications. Dermatologists frequently evaluate and manage the cutaneous manifestations of PCOS (ie, acanthosis nigricans, hirsutism, acne, and alopecia), and therefore play a key role in its diagnosis and management. In part I of this continuing medical education article, we review the definition, etiology, pathogenesis, and clinical features of PCOS.

  16. POSSIBILITIES OF DIAGNOSIS OF RADIATION INJURIES AND REHABILITATION OF PATIENTS AFTER COMBINED TREATMENT OF MALIGNANT TUMORS OF THE BREAST

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    A. V. Kondakov

    2016-01-01

    Full Text Available Purpose. To develop and introduce into practice health facility individual programs of rehabilitation treatment and rehabilitation after combined treatment of breast cancer with the use of thermal imaging diagnostic method.Materials and methods. The study included 259 women who had undergone combined treatment of breast cancer. The main contingent of the test (82.4% were middle-aged women from 33 to 59 years old. For an objective diagnosis of the state of post-radiation fibrosis and scarring using modern methods of instrumental diagnostics: Sonoelastography, infrared thermography and thermal imaging diagnostics. In individual cases, to assess the developmental stages of lymphedema using lymphoscintigraphy and MRI.Results. The proposed method of of research of the thermal state of postoperative functional area allows to identify disease and organic components in the form of scars and radiation fibrosis. This method allows to visualize the state of the heat balance on the surface of the skin and evaluate the impact of means of rehabilitation of the thermal regime of post-operative area. Critical thermal asymmetry increase by 2–3 degrees on Celsius indicates negative impact on homeostasis means of rehabilitation of post-operative area.Conclusions. Thermal imaging diagnostics of scares, radiation damage and postmastectomy syndrome is a highly informative method of objective evaluation of the effectiveness of the rehabilitation process and can be recommended for use in specialized medical rehabilitation offices. For this, it developed adhesive-correcting method of prevention and treatment of late radiation damage, fibrosis, and keloids through innovative adhesive ekzoform. Develop a model structure and staffing with specialized rehabilitation rooms for women after combined treatment of breast cancer. Traditional means of rehabilitation (silicone-biological prosthetics have a number of significant shortcomings in the

  17. Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years After Initial Diagnosis.

    Science.gov (United States)

    Gillberg, I Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher

    2016-01-01

    We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had never met criteria for an additional psychiatric/neurodevelopmental diagnosis and more than half had ongoing comorbidity (most commonly either ADHD or depression or both). Any psychiatric comorbidity increased the risk of poorer outcome. The minority of the AS group who no longer met criteria for a full diagnosis of an autism spectrum disorder were usually free of current psychiatric comorbidity. The high rate of psychiatric/neurodevelopmental comorbidities underscores the need for a full psychiatric/neurodevelopmental assessment at follow-up of males with AS.

  18. Role of F-18 FDG PET/CT imaging in the diagnosis of paraneoplastic neurological syndromes

    Institute of Scientific and Technical Information of China (English)

    Lei Kang; Xiaojie Xu; Hongwei Sun; Rongfu Wang

    2014-01-01

    Paraneoplastic neurological syndromes (PNS) is a series of rare neurologic disorders which happen with an underlying malignancy. It has various clinical symptoms proceding to the diagnosis of tumors. Although the abnormality of anti-neuronal antibodies is suggestive of PNS and tumors, there exist many false positive and false negative cases. The diagnosis of PNS is usualy a chalenge in clinic. Positron emission tomography/computed tomography (PET/CT) imaging is an anatomical and functional fusion imaging method, which provides the whole-body information by single scan. Fluorodeoxy-glucose (FDG) PET/CT imaging can not only detect potential malignant lesions in the whole body, but also assess functional abnormality in the brain. In this review, the mechanism, clinical manifestation, diagnostic procedure and the recent progress of the utility of FDG PET/CT in PNS are introduced respectively.

  19. Diagnosis and implications in the therapeutic management of patient with afebrile neurolepctic malignant syndrome

    Science.gov (United States)

    Gomes, Rafael Quintes Ducasble; dos Santos-Júnior, Amilton; Dias, Gabriel Augusto de Araujo Silva; Cais, Carlos Filinto da Silva

    2016-01-01

    This report aims at raising clinical awareness for the diagnosis of atypical presentations of neuroleptic malignant syndrome (NMS). We describe the case of a female patient with NMS symptoms, except fever, after starting the use of chlorpromazine. The afebrile condition delayed the consideration of NMS by the emergency clinicians who provided her initial assessment. Before this consideration, an anticholinergic agent, not recommended at this condition, was inadvertently prescribed. This might have contributed to the worsening of symptoms. NMS is a life-threatening idiosyncratic reaction most often seen as complication of antipsychotic treatment. Its clinical spectrum is broad and its diagnosis should be considered even if the patients do not fulfill all the possible described symptoms. PMID:27606070

  20. A case of parasite invasion of the intestinal tract: a missed diagnosis in irritable bowel syndrome.

    Science.gov (United States)

    Koh, Kang Hun; Kim, Sang Wook; Lee, So Young; Lee, Hee Jung; Yu, Hea Min; Jeon, Byung Jun; Kwon, Dae Hun; Lee, Soo Teik

    2013-11-01

    Irritable bowel syndrome (IBS) is a gastrointestinal disorder characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause. As the clinical manifestations are very diverse and associated with nonspecific symptoms, research seeking to identify organic causes to rule out IBS and to enable differential diagnosis is required. A 24-year-old man was referred to our hospital for specialized management of IBS. He had a 7-month history of intermittent epigastric and lower abdominal pain. On the basis of clinical examination, he was diagnosed with IBS and administered medication at a primary clinic. However, his symptoms did not improve after treatment. We performed capsule endoscopy at our hospital and identified a parasite (Ancylostoma duodenale) in the proximal jejunum. We therefore report a case of parasitic infection found by additional examination while evaluating symptoms associated with a previous diagnosis of refractory IBS.

  1. Congenital Horner′s syndrome and the usefulness of the apraclonidine test in its diagnosis

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    Mirzai Hasan

    2006-01-01

    Full Text Available We present a seven-month-old baby with miosis of the left pupil, left hypochromia, mild ipsilateral ptosis, left hemifacial anhidrosis and asymmetrical facial flushing. A diagnosis of Horner′s syndrome (HS was presumed and was confirmed by instillation of apraclonidine eye drops. Miosis was reversed upon apraclonidine instillation. Magnetic resonance imaging of the head, neck and thorax and ultrasonography of the neck and abdomen did not reveal any pathological conditions. Although delivery-related brachial plexus injury is known as the most common cause of congenital HS, it should be investigated and should include neuroimaging of the sympathetic pathway, to exclude a serious underlying disease. As in our case, a specific etiology may not always be elicited. Pharmacological testing with apraclonidine may be a practical alternative to cocaine in the diagnosis of HS.

  2. [Long QT syndrome: a brief review of the electrocardiographical diagnosis including Viskin's test].

    Science.gov (United States)

    Márquez, Manlio F

    2012-01-01

    The QT interval measures both repolarization and depolarization. Learning to measure the QT interval and know how to correct (QTc) for heart rate (HR) is essential for the diagnosis of long QT syndrome (LQTS). The QTc interval changes in duration and even morphology depending on the time of the day and on a day-to-day basis. A diminished adaptive response of the QTc interval to changes in HR is known as QT hysteresis. Viskin has introduced a very simple clinical test to confirm the diagnosis of LQTS based on the "hypoadaptation" of the QT when standing. This phenomenon gives the appearance of a "stretching of the QT" on the surface ECG. Likewise, he has coined the term "QT stunning" to refer to the phenomenon that the QTc interval does not return to baseline despite recovery of baseline HR after standing. This article shows some examples of the Viskin's test.

  3. Diagnosis and treatments of Prader-Willi syndrome: a review of current consensuses

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    Alisa Vital'evna Vitebskaya

    2014-05-01

    Full Text Available We analyzed international consensuses of experts and clinical recommendations on diagnosis and treatment of Prader-Willi syndrome (PWS: PWS consensus diagnostic criteria (1993; US PWS Association (PWSA-USA consensus statements on evaluating of breathing abnormalities (2007, osteoporosis (2008, growth hormone treatment in PWS (2000 and 2009; Endocrine society clinical practice guideline on Prevention and treatment of pediatric obesity (2008; the Second Expert Meeting of the Comprehensive Care of Patients with PWS Consensus published as Recommendations for the diagnosis and management of PWS (2008. Historical analysis and comparison of recommendations are presented in this review article. Absence of Russian clinical practice guidelines on PWS patients management makes necessary the detailed study of listed documents.

  4. Positive predictive value of the infant respiratory distress syndrome diagnosis in the Danish National Patient Registry

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    Thygesen SK

    2013-08-01

    Full Text Available Sandra Kruchov Thygesen, Morten Olsen, Christian Fynbo ChristiansenDepartment of Clinical Epidemiology, Aarhus University Hospital, Aarhus, DenmarkBackground: Infant respiratory distress syndrome (IRDS is the most common respiratory disease in preterm infants, and is associated with considerable morbidity and mortality. Valid data on IRDS are important in clinical epidemiological research.Objectives: The objective of this study was to estimate the positive predictive value (PPV of the IRDS diagnosis registered in the population-based Danish National Patient Registry according to the International Classification of Diseases, 8th and 10th revisions.Methods: Between January 1, 1977 and December 31, 2008, we randomly selected three patients per year, 96 in total, who were registered with an IRDS diagnosis in the Danish National Patient Registry and living in the northern part of Denmark. Data on the infants included information on the presence of predefined clinical symptoms. We defined IRDS as the presence of at least two of four clinical symptoms (tachypnea, retractions or nasal flaring, grunting, and central cyanosis, which had to be present for more than 30 minutes. Using medical record review as the reference standard, we computed the positive predictive value of the registered IRDS diagnosis including 95% confidence intervals (CIs.Results: We located the medical record for 90 of the 96 patients (94%, and found an overall PPV of the IRDS diagnosis of 81% (95% CI 72%–88%. This did not vary substantially between primary and secondary diagnoses. The PPV was higher, at 89% (95% CI 80%–95%, for preterm infants born before 37 weeks of gestation.Conclusion: The PPV of the IRDS diagnosis in the Danish National Patient Registry is reasonable when compared with symptoms described in the corresponding medical records. The Danish National Patient Registry is a useful data source for studies of IRDS, particularly if restricted to preterm infants

  5. Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure

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    Francisco A. Nicanor

    2005-10-01

    Full Text Available INTRODUCTION: The urofacial or Ochoa syndrome is a rare disease characterized by the presence of functional obstructive uropathy associated with peculiar facial features when patients attempt to smile or laugh. Unfortunately, many of these patients remain without proper diagnosis or adequate treatment due to lack of recognition of the disease. This can ultimately result in upper tract deterioration and eventual renal failure. We present our experience with this rare syndrome. MATERIALS AND METHODS: We identified 3 patients who presented initially with acute renal failure, urinary tract infection (UTI and severe dysfunctional elimination. All patients were thoroughly evaluated, including screening for spinal cord anomalies, and were subsequently diagnosed with urofacial syndrome. RESULTS: At the outset, the two older patients (aged 4 and 9 years presented with the typical facial features when attempting to smile or laugh. One patient in the newborn period presented with urinary and fecal retention and septicemia and, to our knowledge, represents the youngest case of urofacial syndrome reported so far. All patients were evaluated with ultrasonography, renal scan, voiding cystourethrogram (VCUG and urodynamics. Findings included hydronephrosis and a thick-walled, trabeculated bladder with poor compliance and detrusor hypereflexia respectively in each patient. All were subsequently treated with clean intermittent catheterization (CIC, antibiotic prophylaxis and anticholinergic therapy. One patient required appendicovesicostomy for CIC due to discomfort secondary to a sensate urethra. CONCLUSIONS: Our series demonstrates that early recognition of this rare syndrome is necessary to adequately treat and prevent upper tract deterioration in these unique individuals. Although the urofacial is difficult to diagnose in infants, cognizance must be maintained in order to prevent severe subsequent sequalae.

  6. Confusion and inconsistency in diagnosis of Asperger syndrome: a review of studies from 1981 to 2010.

    Science.gov (United States)

    Sharma, Shilpi; Woolfson, Lisa Marks; Hunter, Simon C

    2012-09-01

    This paper presents a review of past and current research on the diagnosis of Asperger syndrome (AS) in children. It is suggested that the widely used criteria for diagnosing AS in the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV are insufficient and invalid for a reliable diagnosis of AS. In addition, when these diagnostic criteria are applied, there is the potential bias of receiving a diagnosis towards the high-functioning end of the autism spectrum. Through a critical review of 69 research studies carried out between 1981 and 2010, this paper shows that six possible criteria for diagnosing AS (specifically, the age at which signs and symptoms related to autism become apparent, language and social communication abilities, intellectual abilities, motor or movement skills, repetitive patterns of behaviour and the nature of social interaction) overlap with the criteria for diagnosing autism. However, there is a possibility that some finer differences exist in the nature of social interaction, motor skills and speech patterns between groups with a diagnosis of AS and autism. These findings are proposed to be of relevance for designing intervention studies aimed at the treatment of specific symptoms in people with an autism spectrum disorder.

  7. Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - A challenging diagnosis not to be missed.

    Science.gov (United States)

    Zimmermann, Petra; Curtis, Nigel

    2016-07-05

    SAPHO syndrome manifests as chronic inflammation of bones and joints, which may or may not be accompanied by skin changes. The term SAPHO is an acronym that stands for synovitis, acne, pustulosis (usually palmoplantar), hyperostosis and osteitis. The bones most commonly affected are those in the anterior chest wall (mainly the sternum, clavicles and sternocostoclavicular joints), the vertebrae and the sacroiliac joints, but peripheral and flat bones may also be involved, especially in children. There are no validated diagnostic criteria for SAPHO, and diagnosis is based on clinical and radiological findings. One of the main challenges in diagnosis is that the clinical features may occur many years apart. Additionally, patients may not develop all manifestations. Delayed diagnosis, as a result of a lack of awareness of SAPHO, can lead to patients suffering ongoing pain and disfiguring skin manifestations. One theory is that Propionibacterium acnes (isolated from bone biopsies in many SAPHO patients) triggers an auto-immune mediated chronic inflammation in genetically predisposed individuals. Treatment involves the use of nonsteroidal anti-inflammatory drugs, intra-articular steroids, bisphosphonates and biologicals. The course of SAPHO is often prolonged but, despite the challenges in diagnosis and treatment, the long-term prognosis is good.

  8. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

    Science.gov (United States)

    De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

    2015-07-01

    Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

  9. Varied presentations of Sheehan′s syndrome at diagnosis: A review of 18 patients

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    Delmalya Sanyal

    2012-01-01

    Full Text Available Introduction: Sheehan′s syndrome (SS occurs due to ischemic pituitary necrosis as a result of severe postpartum hemorrhage (PPH. Aims and Objectives: The aim of the present study was to review the presenting features of SS at diagnosis. Materials and Methods: We retrospectively reviewed 18 cases of SS at diagnosis. Presenting clinical features, laboratory data, pituitary hormone deficiencies, and magnetic resonance imaging (MRI of the sella were analyzed. Results: Age ranged from 28-71 years with a mean age of 47 ± 14.44 years. Time to diagnosis of SS was 6-33 years with a mean of 15.35 ± 6.74 years. Four (22.2% patients were referred from emergency for hyponatremia, one each (5.6% for hypotension, hypoglycemia, and vomiting. Three (16.7% patients presented with asthenia and weight loss, two (11.1% with slightly raised thyroid stimulating hormone (TSH. Only six (33.3% presented with classic features of amenorrhea. None presented with isolated lactational failure or apoplexy after PPH. Seventeen (94.4% patients had lactational failure; thirteen (72.2% did not menstruate following last delivery. Lactotroph and gonadotroph failure were present in all at diagnosis but corticotrophs preservation was documented in three (16.7% and thyrotroph in two (11.1% patients. Twelve (66.7% patients had empty sella while six (33.3% had partial empty sella on MRI. Conclusion: SS has variable features at diagnosis and may present to different specialties. The clinical features of hypopituitarism are often subtle, leading to delay in diagnosis. History of PPH, lactational failure and cessation of menses are important clues. Thyrotroph, corticotroph axis may be preserved in some SS patients.

  10. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

    2015-03-01

    Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

  11. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

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    von Kodolitsch Y

    2015-06-01

    Full Text Available Yskert von Kodolitsch,1 Julie De Backer,2 Helke Schüler,1 Peter Bannas,3 Cyrus Behzadi,3 Alexander M Bernhardt,1 Mathias Hillebrand,1 Bettina Fuisting,4 Sara Sheikhzadeh,1 Meike Rybczynski,1 Tilo Kölbel,1 Klaus Püschel,5 Stefan Blankenberg,1 Peter N Robinson61Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany; 2Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium; 3Diagnostic and Interventional Radiology Department and Clinic, 4Department of Ophthalmology, 5Department of Legal Medicine, University Hospital Eppendorf, Hamburg, Germany; 6Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany Abstract: Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS: the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1; and the revised Ghent nosology in 2010 (Ghent-2. We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2 and in persons not having a causative FBN1 mutation (15% versus 13%. Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of

  12. [Devic syndrome--case report, current principles of diagnosis and therapy].

    Science.gov (United States)

    Iljicsov, Anna; Barsi, Péter; Várallyay, György; Tátrai, Erika; Somfai, Gábor Márk; Bereczki, Dánieli; Rudas, Gábor; Simó, Magdolna

    2010-09-30

    Neuromyelitis optica (NMO, Devic-syndrome) is a rare, relapsing autoimmune disease of the central nervous system, which is distinguished from other demyelinating disorders by a recently identified, specific autoantibody. By demonstrating the anti-aquaporin-4 IgG in the serum, a heterogenous group of syndromes can be defined, called NMO-spectrum. In the future, optical coherence tomography may support this diagnosis besides the clinical features, imaging examinations and presence of serum antibody. Early recognition and treatment can improve clinical outcome even in serious condition. Long-term immunosuppressive therapy is advised to prevent further relapses and to stabilize or improve clinical status. Hereby, we report a case of a 51-year-old woman, under treatment for one and a half years. We summarize the current knowledge about the pathomechanism, diagnostic strategy and therapy of neuromyelitis optica. We review recent findings and the diagnostic value of a new, non-invasive ophtalmological examination, the optical coherence tomography. According to the first results, this method may be helpful in the early differential diagnosis of optic neuritis.

  13. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis.

    Science.gov (United States)

    Yepishin, Ilya V; Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-07-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG).

  14. Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report

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    Silva Daniela M

    2011-09-01

    Full Text Available Abstract Introduction Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the testes and penis in male fetuses, and are directed by the testicular determining factor: the gene SRY (sex determining region on Y chromosome located on the short arm of chromosome Y. The differentiation of male external genitalia (penis, scrotum and penile urethra occurs between the 9th and 13th weeks of pregnancy and requires adequate concentration of testosterone and the conversion of this to another more potent androgen, dihydrotestosterone, through the action of 5α-reductase in target tissues. Case presentation This report describes the case of a teenage girl presenting with a male karyotype, and aims to determine the extension of the mutation that affected the AR gene. A Caucasian girl aged 15 was referred to our laboratory for genetic testing due to primary amenorrhea. Physical examination, karyotype testing and molecular analysis of the androgen receptor were critical in making the correct diagnosis of complete androgen insensitivity syndrome. Conclusions Sex determination and differentiation depend on a cascade of events that begins with the establishment of chromosomal sex at fertilization and ends with sexual maturation at puberty, subsequently leading to fertility. Mutations affecting the AR gene may cause either complete or partial androgen insensitivity syndrome. The case reported here is consistent with complete androgen insensitivity syndrome, misdiagnosed at birth, and consequently our patient was raised both socially and educationally as a female. It is critical that health care providers understand the importance of properly diagnosing a newborn manifesting ambiguous genitalia. Furthermore, a child with a pseudohermaphrodite phenotype should always undergo adequate

  15. Late effect of atomic bomb radiation on myeloid disorders: leukemia and myelodysplastic syndromes.

    Science.gov (United States)

    Tsushima, Hideki; Iwanaga, Masako; Miyazaki, Yasushi

    2012-03-01

    Leukemia was the first malignancy linked to radiation exposure in atomic bomb survivors. Clear evidence of the dose-dependent excess risk of three major types of leukemia (acute lymphocytic leukemia, acute myeloid leukemia [AML], and chronic myeloid leukemia) was found, especially in people exposed at young ages. Such leukemia risks were at their highest in the late 1950s, and declined gradually thereafter over the past 50 years. Findings from recent risk analyses, however, suggest the persistence of AML risk even after 1990, and evidence of increased risk of myelodysplastic syndromes (MDS) due to atomic bomb radiation has recently been shown. High-risk MDS and forms involving complex chromosomal aberrations were found to be much more frequent in people exposed to higher radiation doses. These lines of epidemiological evidence suggest that the risk of radiation-induced hematological malignancies has persisted for six decades since the initial exposure.

  16. Microscopic colitis and small intestinal bacterial overgrowth--diagnosis behind the irritable bowel syndrome?

    Science.gov (United States)

    Stoicescu, Adriana; Andrei, M; Becheanu, G; Stoicescu, M; Nicolaie, T; Diculescu, M

    2012-01-01

    Some patients previously diagnosed with irritable bowel syndrome (IBS) may develop microscopic colitis or small intestinal bacterial overgrowth (SIBO). To estimate the prevalence of microscopic colitis and SIBO in patients with IBS, to evaluate the symptoms and the efficacy of treatment. We examined patients with IBS admitted in our clinic during a three-year period. We identified patients with microscopic colitis by performing total colonoscopy with multiple biopsies from normal intestinal mucosa and those with SIBO by performing a H2-breath test with glucose. We compared the symptoms and the effectiveness of the treatment. Out of the 132 patients initially diagnosed with IBS 3% (n=4) had microscopic colitis and 43.9% (n=58) had SIBO. Diarrhea was the main symptom in patients with microscopic colitis and SIBO (p=0.041), while abdominal pain, abdominal bloating and flatulence were prominent in IBS patients (p=0.042; p=0.039; p=0.048). Specific treatment with rifaximin in SIBO patients negativated H2-breath test in 70.9% cases. Patients suspected to have irritable bowel syndrome should be evaluated for microscopic colitis and SIBO. The proper diagnosis and the specific treatment may cure some difficult cases of the so called "irritable bowel syndrome".

  17. Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.

    Science.gov (United States)

    Rios, Livia T; Araujo Júnior, Edward; Caetano, Ana C R; Nardozza, Luciano M; Moron, Antonio F; Martins, Marília G

    2012-01-01

    THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the "lobster-claw" hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

  18. Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

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    Fernando De Maio

    2016-01-01

    Full Text Available Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1. The most important features affect the cardiovascular system, eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affected by Marfan syndrome. Fifty-four patients (37% underwent cardiac surgery and 11 of them received emergent surgery for acute aortic dissection. Ectopia lentis was found in 68 patients (47% whereas myopia above 3D occurred in 46 patients (32%. Musculoskeletal anomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%, the associated “wrist and thumb sign” was present; in 58 patients (39.7%, pectus carinatum deformity; in 44 patients (30.1%, pectus excavatum; in 49 patients (33.5%, severe flatfoot; in 31 patients (21.2%, hindfoot deformity; in 54 patients (36.9%, reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%, scoliosis or thoracolumbar kyphosis; in 22 patients (15%, reduced elbow extension (170° or less. Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%. Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications.

  19. Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

    Science.gov (United States)

    Fichera, Alessandro; De Luna, Vincenzo; Mancini, Federico; Caterini, Roberto

    2016-01-01

    Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affected by Marfan syndrome. Fifty-four patients (37%) underwent cardiac surgery and 11 of them received emergent surgery for acute aortic dissection. Ectopia lentis was found in 68 patients (47%) whereas myopia above 3D occurred in 46 patients (32%). Musculoskeletal anomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%), the associated “wrist and thumb sign” was present; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severe flatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications. PMID:28050285

  20. Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

    Science.gov (United States)

    Pedroso, José Luiz; de Freitas, Maria Eliza Thomaz; Albuquerque, Marcus Vinicius Cristino; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Barsottini, Orlando G P

    2014-12-15

    In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. We provide a brief report of the three cases, with a video demonstrating chorea. Although a debate regarding the frequency of chorea in SCA patients is a fact, its occurrence, together with the autosomal dominant pattern of inheritance, clearly imposes SCA in the differentials of Huntington-like syndromes. There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. We believe that SCAs-at least SCA1, SCA2, SCA3/MJD, SCA7 and DRPLA-should be thought in the diagnostic workout of at least the atypical cases, such as those presented in this report.

  1. Pseudoactinomycotic Radiate Granules (PAMRAGs)- An Unusual Differential Diagnosis for Ovarian Neoplasm; A Diagnostic Dilemma.

    Science.gov (United States)

    P J, Cicy; P J, Tessy; P, Lekshmidevi; V, Letha; Poothiode, Usha

    2015-03-01

    Pseudoactinomycotic radiate granules (PAMRAGs) are rarely detected lesions in ovary. Endometrium is the usual site and a detailed search of literature yielded only two cases in the ovary. PAMRAGs must be differentiated from actinomycotic granules which are also strongly associated with the use of intrauterine contraceptive devices (IUCDs). In cases of suppurative oophoritis due to actinomycosis, a proper diagnosis and culture confirmation is mandatory to avoid further complications. This case is reported due to its rarity, unusual clinical presentation and to highlight the importance of special stains in cases of tuboovarian abscess, where PAMRAGs may cause diagnostic dilemma. Our patient was a 50 yr old female admitted with clinical diagnosis of malignant ovarian tumour. After preoperative work up, panhysterectomy, infracolic omentectomy and excision biopsy of the right inguinal lymph node were done. Peroperatively the right ovary was enlarged and adherent to the fallopian tube and pelvic wall. Gross examination revealed a right tuboovarian mass with yellowish areas of necrosis and fibrosis. Histology showed a suppurative granulomatous lesion with spherical granules having club like peripheral projections. A panel of special stains (GMS, GRAMs and AFB) done were negative. Thus, we ruled out actinomycosis and gave a diagnosis of PAMRAG.

  2. Clinical utility of DaTscan™ (123I-Ioflupane Injection in the diagnosis of Parkinsonian Syndromes

    Directory of Open Access Journals (Sweden)

    Roussakis AA

    2013-06-01

    Full Text Available Andreas-Antonios Roussakis, Paola Piccini, Marios PolitisCentre for Neuroinflammation and Neurodegeneration, Imperial College London, London, United KingdomAbstract: The diagnosis of movement disorders including Parkinsonian syndromes and essential tremor is mainly clinical. The most common diagnostic errors for Parkinson's disease include misdiagnoses such as Parkinson plus syndromes and cases of essential tremor. In this article, we discuss the clinical utility of DaTscan™ (123I-Ioflupane injection and its diagnostic value in Parkinson's disease and the other Parkinsonian syndromes. Single photon emission computed tomography with 123I-Ioflupane can be useful to assist in the diagnosis of uncertain cases of Parkinsonism. An accurate diagnosis can aid clinicians in making correct decisions that are related to the overall management and treatment of Parkinson's disease, avoiding common therapeutic errors.Keywords: DaTscan, SPECT, 123I-Ioflupane, 123I-β-FP-CIT, Parkinsonism

  3. Prenatal Diagnosis of Amniotic Band Syndrome in the Third Trimester of Pregnancy using 3D Ultrasound

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    Luciano Marcondes Machado Nardozza

    2012-01-01

    Full Text Available Amniotic band syndrome is characterized by a build-up of bands and strings of fibrous tissue that adhere to the fetus and can compress parts of the fetus, thus causing malformations and even limb amputation while the fetus is still in the uterus. The clinical manifestations are extremely variable and their extent may range from a single abnormality, like a constriction ring, to multiple abnormalities. Such abnormalities are generally diagnosed at the end of the first or the beginning of the second trimester using two-dimensional ultrasonography (2DUS. Three-dimensional ultrasonography (3DUS in rendering mode allows spatial analysis of the fetus and amniotic band, thus enabling better comprehension of this pathological condition and better counseling for the parents. There has not previously been any evidence to show that 3DUS would be useful in cases of late diagnosis (third trimester of amniotic band syndrome. In the present case, a primigravid woman underwent her second obstetric ultrasound scan in the 34 th week, from which we observed two bands in contact with the right forearm, but with normal movement of this limb and its fingers. 3DUS made it possible to see the spatial relationship of these bands to the fetal body, thereby confirming their adherence to the limb. After the birth, the prenatal diagnosis of amniotic band syndrome without limb constriction was confirmed. A surgical procedure was carried out on the third day after birth to excise the bands, and the newborn was then discharged in a good general condition.

  4. A Belgian survey on the diagnosis of asthma–COPD overlap syndrome

    Science.gov (United States)

    Cataldo, Didier; Corhay, Jean-Louis; Derom, Eric; Louis, Renaud; Marchand, Eric; Michils, Alain; Ninane, Vincent; Peché, Rudi; Pilette, Charles; Vincken, Walter; Janssens, Wim

    2017-01-01

    Introduction Patients with chronic airway disease may present features of both asthma and COPD, commonly referred to as asthma–COPD overlap syndrome (ACOS). Recommendations on their diagnosis are diffuse and inconsistent. This survey aimed to identify consensus on criteria for diagnosing ACOS. Methods A Belgian expert panel developed a survey on ACOS diagnosis, which was completed by 87 pulmonologists. Answers chosen by ≥70% of survey respondents were considered as useful criteria for ACOS diagnosis. The two most frequently selected answers were considered as major criteria, others as minor criteria. The expert panel proposed a minimal requirement of two major criteria and one minor criterion for ACOS diagnosis. Respondents were also asked which criteria are important for considering inhaled corticosteroids prescription in a COPD patient. Results To diagnose ACOS in COPD patients, major criteria were “high degree of variability in airway obstruction over time (change in forced expiratory volume in 1 second ≥400 mL)” and “high degree of response to bronchodilators (>200 mL and ≥12% predicted above baseline)”. Minor criteria were “personal/family history of atopy and/or IgE sensitivity to ≥1 airborne allergen”, “elevated blood/sputum eosinophil levels and/or increased fractional exhaled nitric oxide”, “diagnosis of asthma asthma)”. To diagnose ACOS in asthma patients, major criteria were “persistence of airflow obstruction over time (forced expiratory volume in 1 second/forced vital capacity ratio 40 years”; “emphysema on chest computed tomography scan”. Conclusion Specific criteria were identified that may guide physicians to a more uniform diagnostic approach for ACOS in COPD or asthma patients. These criteria are largely similar to those used to prescribe inhaled corticosteroids in COPD. PMID:28243078

  5. High false-positive rate of questionnaire-based restless legs syndrome diagnosis in multiple sclerosis.

    Science.gov (United States)

    Mery, V; Kimoff, R J; Suarez, I; Benedetti, A; Kaminska, M; Robinson, A; Lapierre, Y; Bar-Or, A; Trojan, D A

    2015-07-01

    Restless legs syndrome (RLS) is diagnosed by self-reported symptoms. Multiple sclerosis (MS) patients have disease-related symptoms which could mimic RLS. This study assessed the: (1) false-positive rate for questionnaire-based RLS diagnosis in MS patients and (2) utility of periodic leg movements during wakefulness (PLMW) on overnight polysomnography (PSG) in identifying true-positive RLS patients. Ambulatory MS patients without known sleep disorders were recruited. Subjects completed the International RLS Study Group (IRLSG) diagnostic questionnaire (IRLDQ) and underwent full overnight PSG. IRLDQ-positive patients underwent clinical evaluation to confirm the diagnosis and completed the RLS severity scale (IRLS). Seventy-one MS patients (mean age 46.8 ± 10.4 years) were evaluated. Thirty-eight had a positive IRLDQ. RLS diagnosis was confirmed in 22, yielding a false-positive rate of 42% [95% confidence interval (CI) 26-59%], predominantly attributable to paresthesiae (n = 7), and cramps and/or muscle spasms (n = 4). IRLS scores were not significantly different between subjects with confirmed and nonconfirmed RLS. The PLMW index was significantly higher in patients with confirmed RLS (55.4 ± 41.9 vs. 29.7 ± 18.8, p = 0.03). The sensitivity of a PLMW index >70/h for true-positive IRLDQ was 8/22 = 36%, 95% CI: 17.2-59.3, and the specificity was 16/16 = 100%, 95% CI: 79.4-100. MS patients have a high false-positive rate of RLS diagnosis using a standardized questionnaire largely attributable to MS-related sensorimotor symptoms. While detailed clinical evaluation is essential for confirming RLS diagnosis, the PLMW index may provide useful adjunctive information. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. A 54-year-old male with rapidly progressive neurologic syndrome: Clinicopathologic correlation of a rare diagnosis

    OpenAIRE

    Deepti Mutreja; Nikhil Moorchung; Salil Gupta; Rajeev Saxena; Rohini S Doshetty; Bhaskar Nandi

    2017-01-01

    Diagnosis of systemic lupus erythematosus (SLE) as primary presentation with central nervous system involvement as a rapidly progressive neurologic syndrome is extremely rare. We present a rare case of a 54-year-old hypertensive male patient, who presented with a fulminant neurologic syndrome. He presented with cerebellar and meningeal signs, aseptic meningitis and had a rapid downhill course following admission. A postmortem revealed feature of systemic connective tissue fulfilling diagnosti...

  7. [The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed patau syndrome fetuses (case analysis)].

    Science.gov (United States)

    Janiak, Katarzyna; Kaczmarek, Piotr; Krasoń, Aneta; Nowicki, Grzegorz; Piotrowicz, Małgorzata; Respondek-Liberska, Maria

    2002-07-01

    Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).

  8. Diagnosis of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Rowland, L P

    1998-10-01

    This review of the differential diagnosis of amyotrophic lateral sclerosis focuses on two themes. The first is practical, how to establish the diagnosis based primarily on clinical findings buttressed by electrodiagnosis. The main considerations are multifocal motor neuropathy and cervical spondylotic myelopathy. The second theme is the relationship of motor neuron disease to other conditions, including benign fasciculation (Denny-Brown, Foley syndrome), paraneoplastic syndromes, lymphoproliferative disease, radiation damage, monomelic amyotrophy (Hirayama syndrome), as well as an association with parkinsonism, dementia and multisystem disorders of the central nervous system.

  9. Charles Bonnet Syndrome: Comprehensive Review Providing an Optometric Approach to Diagnosis and Management

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    Theresa Zerilli-Zavgorodni, OD

    2014-01-01

    Full Text Available Given the aging population, the likelihood of eye care providers encountering Charles Bonnet syndrome (CBS will be high. Awareness of CBS is essential so that misdiagnosis and subsequent treatment for a non-existent psychiatric disease is prevented. After vision loss, patients can experience simple hallucinations such as unformed shapes or patterns, or complex hallucinations in the form of recognizable figures or faces. The prevalence of CBS is likely underestimated since individuals are hesitant to discuss these visual disturbances for fear of being labeled as mentally unstable. Since CBS is a diagnosis of exclusion, an extensive list of etiologies must be ruled out before the diagnosis is confirmed. Referrals to other medical disciplines are essential to ensure that the patient does not have another serious neurologic, psychiatric, or metabolic disorder that may be triggering the hallucinations. This comprehensive review is designed to update the reader on recent advances into understanding the pathophysiology of CBS. It is important to classify and differentiate CBS from other types of visual hallucinations. Since there are no universal standardized criteria for diagnosis and treatment, we hope to elucidate and provide the clinician with current diagnostic criteria, recommended work-up, and management plans for CBS patients.

  10. Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury

    Directory of Open Access Journals (Sweden)

    Lauren Surdyke

    2017-01-01

    Full Text Available Locked-in syndrome (LIS is a rare diagnosis in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. It is clinically difficult to differentiate from other similarly presenting diagnoses with no standard approach for assessing such poorly responsive patients. The purpose of this case is to highlight the clinical differential diagnosis process and outcomes of a patient with LIS during acute inpatient rehabilitation. A 32-year-old female was admitted following traumatic brain injury. She presented with quadriplegia and mutism but was awake and aroused based on eye gaze communication. The rehabilitation team was able to diagnose incomplete LIS based on knowledge of neuroanatomy and clinical reasoning. Establishing this diagnosis allowed for an individualized treatment plan that focused on communication, coping, family training, and discharge planning. The patient was ultimately able to discharge home with a single caregiver, improving her quality of life. Continued evidence highlights the benefits of intensive comprehensive therapy for those with acquired brain injury such as LIS, but access is still limited for those with a seemingly poor prognosis. Access to a multidisciplinary, specialized team provides opportunity for continued assessment and individualized treatment as the patient attains more medical stability, improving long-term management.

  11. Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury.

    Science.gov (United States)

    Surdyke, Lauren; Fernandez, Jennifer; Foster, Hannah; Spigel, Pamela

    2017-01-01

    Locked-in syndrome (LIS) is a rare diagnosis in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. It is clinically difficult to differentiate from other similarly presenting diagnoses with no standard approach for assessing such poorly responsive patients. The purpose of this case is to highlight the clinical differential diagnosis process and outcomes of a patient with LIS during acute inpatient rehabilitation. A 32-year-old female was admitted following traumatic brain injury. She presented with quadriplegia and mutism but was awake and aroused based on eye gaze communication. The rehabilitation team was able to diagnose incomplete LIS based on knowledge of neuroanatomy and clinical reasoning. Establishing this diagnosis allowed for an individualized treatment plan that focused on communication, coping, family training, and discharge planning. The patient was ultimately able to discharge home with a single caregiver, improving her quality of life. Continued evidence highlights the benefits of intensive comprehensive therapy for those with acquired brain injury such as LIS, but access is still limited for those with a seemingly poor prognosis. Access to a multidisciplinary, specialized team provides opportunity for continued assessment and individualized treatment as the patient attains more medical stability, improving long-term management.

  12. Ocular vs. Cervical VEMPs in the Diagnosis of Superior Semicircular Canal Dehiscence Syndrome

    Science.gov (United States)

    Zuniga, M. Geraldine; Janky, Kristen L.; Nguyen, Kimanh D.; Welgampola, Miriam S.; Carey, John P.

    2012-01-01

    Objectives To determine whether cervical vestibular evoked myogenic potential (cVEMP) thresholds or ocular VEMP amplitudes are more sensitive and specific in the diagnosis of superior semicircular canal dehiscence syndrome (SCDS). Study design Prospective case-control study Setting Tertiary referral center Subjects and Methods 29 patients with SCDS (mean age 48y; range 31–66y) and 25 age-matched controls (mean age 48y; range 30–66y). Intervention(s) cVEMP and oVEMP in response to air-conducted sound (ACS). All patients underwent surgery for repair of SCDS. Main outcome measure(s) cVEMP thresholds; oVEMP n10 and peak-to-peak amplitudes. Results cVEMP threshold results showed sensitivity and specificity ranging from 80–100% for the diagnosis of SCDS. In contrast, oVEMP amplitudes demonstrated sensitivity and specificity >90%. Conclusions oVEMP amplitudes are superior to cVEMP thresholds in the diagnosis of SCDS. PMID:23183641

  13. MRI findings in the patients with the presumptive clinical diagnosis of Tolosa-Hunt syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Cakirer, Sinan [Department of Radiology, Neuroradiology Section, Istanbul Sisli Etfal Hospital, 81120 Istanbul (Turkey)

    2003-01-01

    The aim of this study was to present our experience in MRI diagnosis of 23 patients with the clinical findings suggesting Tolosa-Hunt syndrome (THS). Cranial MRI studies of the patients with a clinical history of at least one episode of unilateral or bilateral orbital and periorbital pain, and associated paresis of one or more of third to sixth cranial nerves, were performed on a 1.5-T MRI scanner. Whereas 5 patients had the diagnosis of THS, paracavernous meningiomas in 4 patients, pituitary macroadenomas with cavernous sinus infiltration in 3 patients, Meckel's cave neurinoma in 1 patient, and suprasellar epidermoid in 1 patient were surgically proven MRI findings. Other pathological MRI findings were leptomeningeal metastases in 3 patients, granulomatous pachymeningitis sequelae in 2 patients, and aneurysm with compression on cavernous sinus in 1 patient. Three patients had normal MRI findings. The incidence of radiologically proven diagnosis of THS among the patients with the clinical findings suggesting THS seemed to be low in our study. In conclusion, MRI is the most valuable imaging technique to distinguish THS from other THS-like entities, and permits a precise assessment, management, and therapeutic planning of the underlying pathological conditions. (orig.)

  14. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    Science.gov (United States)

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.

  15. Immunohistochemical diagnosis of Alport's syndrome in paraffin-embedded renal sections: antigen retrieval with autoclave heating.

    Science.gov (United States)

    Naito, Ichiro; Ninomiya, Yoshifumi; Nomura, Shinsuke

    2003-03-01

    Alport's syndrome (AS) is a hereditary renal disease caused by mutations in the genes encoding collagen type IV. Immunohistochemical analysis of the alpha chains of collagen type IV has been found to be useful for the diagnosis of this disease. The monoclonal antibodies (mAbs) generated by us recognize alpha 1(IV) through alpha 6(IV) chains of collagen type IV on fresh-frozen sections but not on paraffin-embedded sections. Antigen retrieval by autoclave heating has been found to restore the epitopes recognized by the mAbs; however the heating conditions had not been well established. In this study, the heating conditions were carefully examined using renal sections obtained from AS and non-AS patients. The heating was performed in an autoclave, at 105 degrees -127 degrees C for 6-8 min. During the heating, the sections were immersed in 0.2 N HCl solution (pH 0.9). Then, the mAbs were applied for 30 min, and the bound mAbs were detected using the LSAB kit. The optimal temperature for the antigen retrieval varied among specimens, and was dependent on the type of basement membrane examined. Thus, it was considered that heating at two or three different temperatures could be helpful for the precise diagnosis of AS. Adopting the antigen retrieval method could extend the possibility of immunohistochemical diagnosis of AS to cases without using fresh-frozen sections.

  16. Prenatal cytogenic and ultrasonographic diagnosis of Patau´s Syndrome. Case report

    Directory of Open Access Journals (Sweden)

    Pedro Alí Díaz-Véliz Jiménez

    2016-10-01

    Full Text Available The cytogenetic diagnosis of trisomy 13th is infrequent. It may present as a free trisomy, translocation or in combination of both. Due to the need of counting on reports of this genetic disturbance, a case Patau´s syndrome is presented, detected by prenatal cytogenic and ultrasonographic diagnosis, in a 19 year-old pregnant woman with positive findings in ultrasound (increased nuchal translucency, prominence of facial mass and asymmetry of the four cardiac cavities. It was confirmed by specialists of the Provincial Center of medical genetic of Cienfuegos. It was proposed to perform a cytogenetic prenatal diagnosis which resulted in a female fetus with free trisomy of chromosome 13 (47, XX, +13. The woman was informed and it was decided to interrupt her pregnancy. The report of Pathologic anatomy informed of an orifice in the upper lip which continued to the upper part of the mouth due to the absence of hard palate (Cleft lip accompanied by cleft palate, polydactyly in the left hand (six fingers Congenital cardiopathy due to reduced aortic diameter and dextroposed, hypoplasia in the left cavities, basal media Intraventicular communicación with wide ductus and permeable, so as prominence in the facial mass.

  17. Sequelae of radiation facial epilation (North American Hiroshima maiden syndrome)

    Energy Technology Data Exchange (ETDEWEB)

    Rosen, I.B.; Walfish, P.G. (Univ. of Toronto School of Medicine, Ontario (Canada))

    1989-12-01

    Radiation for benign problems of the head and neck area has been uniformly recognized as unacceptable practice. This includes epilation for facial hirsutism. Twelve such patients, recently encountered, have characteristic radiodermatitis facies and have demonstrated multisite neoplastic involvement--including skin, thyroid, parathyroid, salivary gland, oral cavity, facial skeleton, and breast--and have also undergone extensive dermatologic treatment of complications of radiodermatitis. There was one cancer death, and three patients are alive with cancer. Such patients have a superficial resemblance to the Hiroshima maiden group of young women who survived atomic bombing and experienced severe facial burns, necessitating extensive plastic surgery. As atomic survivors they are at increased risk for cancer of thyroid, salivary gland, lung, breast, bone marrow, and gastrointestinal tract. The North American Hiroshima maiden should warrant easy clinical recognition and require lifetime scrutiny for multisite neoplastic disease.

  18. Mesenchymal stem cell therapy for cutaneous radiation syndrome.

    Science.gov (United States)

    Akita, Sadanori; Akino, Kozo; Hirano, Akiyoshi; Ohtsuru, Akira; Yamashita, Shunichi

    2010-06-01

    Systemic and local radiation injuries caused by nuclear power reactor accidents, therapeutic irradiation, or nuclear terrorism should be prevented or properly treated in order to improve wound management and save lives. Currently, regenerative surgical modalities should be attempted with temporal artificial dermis impregnated and sprayed with a local angiogenic factor such as basic fibroblast growth factor, and secondary reconstruction can be a candidate for demarcation and saving the donor morbidity. Human mesenchymal stem cells and adipose-derived stem cells, together with angiogenic and mitogenic factor of basic fibroblast growth factor and an artificial dermis, were applied over the excised irradiated skin defect and were tested for differentiation and local stimulation effects in the radiation-exposed wounds. The perforator flap and artificial dermal template with growth factor were successful for reconstruction in patients who were suffering from complex underlying disease. Patients were uneventfully treated with minimal morbidities. In the experiments, the hMSCs are strongly proliferative even after 20 Gy irradiation in vitro. In vivo, 4 Gy rat whole body irradiation demonstrated that sustained marrow stromal (mesenchymal stem) cells survived in the bone marrow. Immediate artificial dermis application impregnated with cells and the cytokine over the 20 Gy irradiated skin and soft tissues demonstrated the significantly improved fat angiogenesis, architected dermal reconstitution, and less inflammatory epidermal recovery. Detailed understanding of underlying diseases and rational reconstructive procedures brings about good outcomes for difficult irradiated wound healing. Adipose-derived stem cells are also implicated in the limited local injuries for short cell harvesting and processing time in the same subject.

  19. Ultrasound Diagnosis of Double Crush Syndrome of the Ulnar Nerve by the Anconeus Epitrochlearis and a Ganglion.

    Science.gov (United States)

    Lee, Sang-Uk; Kim, Min-Wook; Kim, Jae Min

    2016-01-01

    Double compression of the ulnar nerve, including Guyon's canal syndrome associated with cubital tunnel syndrome caused by the anconeus epitrochlearis muscle, is a very rare condition. We present a case of double crush syndrome of the ulnar nerve at the wrist and elbow in a 55-year-old man, as well as a brief review of the literature. Although electrodiagnostic findings were consistent with an ulnar nerve lesion only at the elbow, ultrasonography revealed a ganglion compressing the ulnar nerve at the hypothenar area and the anconeus epitrochlearis muscle lying in the cubital tunnel. Careful physical examination and ultrasound assessment of the elbow and wrist confirmed the clinical diagnosis prior to surgery.

  20. Modified Calgary score in differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope in children.

    Science.gov (United States)

    Yang, Jinyan; Zhu, Lulu; Chen, Stella; Li, Xueying; Zhang, Qingyou; Zhang, Fengwen; Chen, Li; Tang, Chaoshu; Du, Junbao; Jin, Hongfang

    2013-06-01

    The present study was designed to analyse the usefulness of a modified Calgary score system during differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope through a large sample sized clinical investigation. The study included 213 children, including 101 boys and 112 girls, with cardiac syncope or postural orthostatic tachycardia syndrome-associated syncope in the age group of 2-19 years (mean 11.8 ± 2.9 years). A modified Calgary score was created, which was analysed to predict differential diagnoses between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope using a receiver operating characteristic curve. The median of modified Calgary scores for cardiac syncope was -5.0, which significantly differed from that of postural orthostatic tachycardia syndrome (0.0; p postural orthostatic tachycardia syndrome-associated syncope in the clinic.

  1. Radiation therapy for Kasabach-Merritt syndrome. Analysis of unfavorable factors in 5 children

    Energy Technology Data Exchange (ETDEWEB)

    Kawamori, Jiro; Saito, Tsutomu; Tanaka, Yoshiaki [Nihon Univ., Tokyo (Japan). School of Medicine; Sato, Katsuhiko

    1996-03-01

    During the past 10 years, five infants with Kasabach-Merritt syndrome (K-M) receiving radiation therapy were reported. We investigated whether radiation therapy for K-M was useful and what the unfavorable factors of K-M were. During the past 10 years, we have treated five infants with K-M. The syndrome occurred at ages ranging from birth to 4 months. The incidence of female to male ratio was 3:2. Among 5 cases, the site of hemangioma was as follows; shoulder, anterior chest wall, lower abdominal wall, face and neck and inguinal site. All 5 cases received medication to control the coagulopathy including prednisone and blood transfusion at first. Because the platelet count and the bleeding tendency did not improve in any case, these cases received radiation therapy. Total dose ranged from 5 to 10 Gy and fraction-size ranged from 0.5 to 1.75 Gy. Irradiation session was 2 or 3 times per week. In 5 cases, 4 cases showed cure of bleeding tendency and disappearance of tumor, and survived. In these 4 cases, normalization of platelet count was obtained at the early phase of dose ranging from 3 to 5 Gy by radiation therapy. In the remaining case, bleeding tendency was improved at the late phase by initial radiation therapy, however, after that immediately relapsed. In this case, the salvage radiation therapy was not effective and she died from airway obstruction. This case was of neonatal age and had bulky neck tumor. We recognized that radiation therapy was effective for K-M. A serious case was of neonatal age and had bulky neck tumor. It was estimated that the unfavorable factors of K-M were neonatal case and bulky neck tumor case. (author).

  2. PATHOPHYSIOLOGY, DIAGNOSIS AND TREATMENTOF DUMPING SYNDROME AND ITS RELATION TO BARIATRIC SURGERY.

    Science.gov (United States)

    Chaves, Yasmin da Silva; Destefani, Afrânio Côgo

    The dumping syndrome is frequent in bariatric surgery. It is probably the most common syndrome following partial or complete gastrectomy. Its prevalence in partial gastrectomy can reach up to 50%, thus it can be a significant complication arising from some types of bariatric surgeries. Critical analysis on dumping syndrome, its pathophysiology, diagnosis and treatment. A literature review was performed using the key words: 'dumping syndrome', 'bariatric surgery' and 'rapid dumping syndrome'. Inclusion criteria were: books, original works, case reports and meta-analyzes, and the exclusion criterion was literature review. Concerning the publication time, articles were screened between 1960 and May 2015. The dumping syndrome is complication arising from obesity surgeries, but also can be a result of vagus nerve damage. Diagnosis is done primarily through the use of questionnaires based on scores. The Sigstad score and Arts survey are valid means for assessing the dumping syndrome. Initial therapy consists in the adoption of dietary measures, short acting drugs administration. A síndrome de dumping é frequente após operações bariátricas. É, provavelmente, a mais comum das síndromes que sucedem gastrectomias parciais ou completas. Sua prevalência, em gastrectomias parciais pode chegar a até 50%, tornando-se assim complicação significante em alguns tipos de operações bariátricas. Realizar análise crítica sobre a síndrome de dumping em sua fisiopatologia, diagnóstico e tratamento. Foi realizada revisão bibliográfica utilizando os descritores: 'síndrome de dumping', 'cirurgia bariátrica' e 'síndrome do esvaziamento rápido'. Os critérios de inclusão foram: livros, trabalhos originais, relatos de caso e metanálises; excluíram-se as revisões bibliográficas. Quanto ao tempo de publicação, foram selecionados artigos entre 1960 e maio de 2015. A síndrome de dumping é complicação gastrointestinal oriunda de operações para obesidade, mas tamb

  3. The role of magnetic resonance imaging and scintigraphy in the diagnosis of pathologic changes of the mandible after radiation therapy

    Energy Technology Data Exchange (ETDEWEB)

    Bachmann, G.; Rau, W.S. [Justus-Liebig-University of Giessen, Dept. of Radiology, Giessen (Germany); Roessler, R. [Justus-Liebig-Univ., Dept. of Periodontology, Giessen (Germany); Klett, R.; Bauer, R. [Justus-Liebig-Univ., Dept. of Nuclear Medicine, Giessen (Germany)

    1996-06-01

    A prospective study of 85 patients with oral cancer, treated with high-dose radiation therapy, was performed to assess the value of magnetic resonance imaging (MRI) and scintigraphy for diagnosis of pathologic changes in the mandible. During postradiotherapeutic monitoring, radiation osteomyelitis occurred in 12 cases, tumor occurrences infiltrating the mandible in five cases, and progressive periodontal disease in nine cases. MRI permitted early diagnosis of radiation osteomyelitis in 11 out of 12 cases; only two cases were false positive. In scintigraphy with {sup 99m}Tc-HDP, all alterations of the mandible, such as osteoradionecrosis, tumor infiltration, and periodontitis, showed a high uptake, resulting in a sensitivity of up to 100%, but a low specificity of 57%. Scintigraphy permitted assessment of the extension and location of the lesions. Both methods were superior to conventional radiography and clinical examination and should be integrated into a comprehensive follow-up program after radiation therapy. (au) 14 refs.

  4. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Diagnosis and Management in Young People: A Primer.

    Science.gov (United States)

    Rowe, Peter C; Underhill, Rosemary A; Friedman, Kenneth J; Gurwitt, Alan; Medow, Marvin S; Schwartz, Malcolm S; Speight, Nigel; Stewart, Julian M; Vallings, Rosamund; Rowe, Katherine S

    2017-01-01

    Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex disease that affects children and adolescents as well as adults. The etiology has not been established. While many pediatricians and other health-care providers are aware of ME/CFS, they often lack essential knowledge that is necessary for diagnosis and treatment. Many young patients experience symptoms for years before receiving a diagnosis. This primer, written by the International Writing Group for Pediatric ME/CFS, provides information necessary to understand, diagnose, and manage the symptoms of ME/CFS in children and adolescents. ME/CFS is characterized by overwhelming fatigue with a substantial loss of physical and mental stamina. Cardinal features are malaise and a worsening of symptoms following minimal physical or mental exertion. These post-exertional symptoms can persist for hours, days, or weeks and are not relieved by rest or sleep. Other symptoms include cognitive problems, unrefreshing or disturbed sleep, generalized or localized pain, lightheadedness, and additional symptoms in multiple organ systems. While some young patients can attend school, on a full or part-time basis, many others are wheelchair dependent, housebound, or bedbound. Prevalence estimates for pediatric ME/CFS vary from 0.1 to 0.5%. Because there is no diagnostic test for ME/CFS, diagnosis is purely clinical, based on the history and the exclusion of other fatiguing illnesses by physical examination and medical testing. Co-existing medical conditions including orthostatic intolerance (OI) are common. Successful management is based on determining the optimum balance of rest and activity to help prevent post-exertional symptom worsening. Medications are helpful to treat pain, insomnia, OI and other symptoms. The published literature on ME/CFS and specifically that describing the diagnosis and management of pediatric ME/CFS is very limited. Where published studies are lacking, recommendations are based on the

  5. Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome

    Directory of Open Access Journals (Sweden)

    Robert eSokolic

    2015-06-01

    Full Text Available Children with Wiskott-Aldrich syndrome (WAS are often first diagnosed with immune thrombocytopenia (ITP, potentially leading to both inappropriate treatment and the delay of life-saving definitive therapy. WAS is traditionally differentiated from ITP based on the small size of WAS platelets. In practice, microthrombocytopenia is often not present or not appreciated in children with WAS. To develop an alternative method of differentiating WAS from ITP, we retrospectively reviewed all complete blood counts and measurements of immature platelet fraction (IPF in 18 subjects with WAS and 38 subjects with a diagnosis of ITP treated at our hospital. Examination of peripheral blood smears revealed a wide range of platelet sizes in subjects with WAS. Mean platelet volume (MPV was not reported in 26% of subjects, and subjects in whom MPV was not reported had lower platelet counts than did subjects in whom MPV was reported. Subjects with WAS had a lower immature platelet fraction (IPF than would be expected for their level of thrombocytopenia, and the IPF in subjects with WAS was significantly lower than in subjects with a diagnosis of ITP. Using logistic regression, we developed and validated a rule based on platelet count and IPF that was more sensitive for the diagnosis of WAS than was the MPV, and was applicable regardless of the level of platelets or the availability of the MPV. Our observations demonstrate that MPV is often not available in severely thrombocytopenic subjects, which may hinder the diagnosis of WAS. In addition, subjects with WAS have a low IPF, which is consistent with the notion that a platelet production defect contributes to the thrombocytopenia of WAS. Knowledge of this detail of WAS pathophysiology allows to differentiate WAS from ITP with increased sensitivity, thereby allowing a physician to spare children with WAS from inappropriate treatment, and make definitive therapy available in a timely manner.

  6. Urothelial Superior Vena Cava Syndrome with Limited Response to Radiation Therapy.

    Science.gov (United States)

    Bingham, Nishan; Wallace Iii, H James; Monterroso, Joanne; Verschraegen, Claire; Waters, Brenda L; Anker, Christopher J

    2015-01-01

    Radiation therapy (RT) is the standard of care for cases of superior vena cava (SVC) syndrome secondary to metastatic adenopathy. Histologies vary in radiosensitivity and response time, making alternative therapies such as chemotherapy and/or intravenous stenting preferable alternative options for certain diagnoses. Metastatic urothelial carcinoma is a particularly rare cause of SVC syndrome with only 3 cases reported in the literature. Consequently, optimal management remains challenging, particularly in cases of high tumor burden. Here we present a case of highly advanced metastatic urothelial cancer with SVC syndrome and tracheal compression. The patient started urgent RT but expired midway through her treatment course due to systemic progression of disease, requiring SVC and tracheal stenting. The authors review the literature including discussion of the few other known cases of SVC syndrome due to urothelial carcinoma and a review of this histology's response to RT. This experience suggests, that in cases of SVC syndrome with widespread advanced disease, stenting and chemotherapy with or without RT may be the most important initial treatment plan, depending on goals of care.

  7. Urothelial Superior Vena Cava Syndrome with Limited Response to Radiation Therapy

    Directory of Open Access Journals (Sweden)

    Nishan Bingham

    2015-01-01

    Full Text Available Radiation therapy (RT is the standard of care for cases of superior vena cava (SVC syndrome secondary to metastatic adenopathy. Histologies vary in radiosensitivity and response time, making alternative therapies such as chemotherapy and/or intravenous stenting preferable alternative options for certain diagnoses. Metastatic urothelial carcinoma is a particularly rare cause of SVC syndrome with only 3 cases reported in the literature. Consequently, optimal management remains challenging, particularly in cases of high tumor burden. Here we present a case of highly advanced metastatic urothelial cancer with SVC syndrome and tracheal compression. The patient started urgent RT but expired midway through her treatment course due to systemic progression of disease, requiring SVC and tracheal stenting. The authors review the literature including discussion of the few other known cases of SVC syndrome due to urothelial carcinoma and a review of this histology’s response to RT. This experience suggests, that in cases of SVC syndrome with widespread advanced disease, stenting and chemotherapy with or without RT may be the most important initial treatment plan, depending on goals of care.

  8. Application of conditionally replicating adenoviruses in tumor early diagnosis technology, gene-radiation therapy and chemotherapy.

    Science.gov (United States)

    Li, Shun; Ou, Mengting; Wang, Guixue; Tang, Liling

    2016-10-01

    Conditionally replicating adenoviruses (CRAds), or known as replication-selective adenoviruses, were discovered as oncolytic gene vectors several years ago. They have a strong ability of scavenging tumor and lesser toxicity to normal tissue. CRAds not only have a tumor-killing ability but also can combine with gene therapy, radiotherapy, and chemotherapy to induce tumor cell apoptosis. In this paper, we review the structure of CRAds and CRAd vectors and summarize the current application of CRAds in tumor detection as well as in radiotherapy and suicide gene-mediating chemotherapy. We also propose further research strategies that can improve the application value of CRAds, including enhancing tumor destruction effect, further reducing toxic effect, reducing immunogenicity, constructing CRAds that can target tumor stem cells, and trying to use mesenchymal stem cells (MSCs) as the carriers for oncolytic adenoviruses. As their importance to cancer diagnosis, gene-radiation, and chemotherapy, CRAds may play a considerable role in clinical diagnosis and various cancer treatments in the future.

  9. Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.

    Science.gov (United States)

    Park, In Yang; Shin, Jong Chul; Kwon, Ji Young; Koo, Bo Kyung; Kim, Myungshin; Lim, Jihyang; Kim, Yonggoo; Han, Kyungja

    2009-08-01

    Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.

  10. A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome

    Directory of Open Access Journals (Sweden)

    Vogel Tobias

    2006-06-01

    Full Text Available Abstract Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck pain and limited movement of the cervical spine. Surprisingly, the adequate radiologic examination revealed a bilateral ossification of the stylohyoid ligament complex. Her symptoms remained intractable from conservative treatment consisting of anti-inflammatory medication as well as physical therapy. Hence the patient was admitted to surgical resection of the ossified stylohyoid ligament complex. Afterwards she was free of any complaints and went back to work. Therefore, ossification of the stylohyoid ligament complex causing severe neck pain and movement disorder should be regarded as a rare differential diagnosis of occupational related neck pain.

  11. Update on the diagnosis, treatment, and prognosis of the catastrophic antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2010-02-01

    The catastrophic antiphospholipid syndrome (APS) is a potentially life-threatening condition, the diagnosis of which requires a high degree of clinical awareness on the part of attending physicians. Patients with APS present with 1) clinical evidence of multiple organ involvement developed over a very short time; 2) histopathologic evidence of multiple small-vessel occlusions; and 3) laboratory confirmation of the presence of antiphospholipid antibodies, usually in high titer. A combination of anticoagulants, corticosteroids, intravenous immunoglobulins, and plasma exchanges is the basic treatment for all patients with this severe condition. Unfortunately, despite current therapies, the mortality rate is still high (around 30%). However, once patients with catastrophic APS have recovered, they usually follow a stable course with continued anticoagulation and few patients present with a relapse of the catastrophic episode.

  12. Construction and use of facial archetypes in anthropology and syndrome diagnosis.

    Science.gov (United States)

    Shaweesh, A I M; Clement, J G; Thomas, C D L; Bankier, A

    2006-05-15

    This paper describes the benefits of moving from recording simple Euclidian distances and angles between landmarks on the face to full three-dimensional visualisation and mapping using modern optical scanning techniques. Pilot experiments are reported on that strive to create facial archetypes which are accurately descriptive of various cohorts of people. Issues considered include variation amongst people of the same sex, age and population-of-origin. The study has discovered that very few people are needed to construct an "average" face, which is measurably indistinguishable from another average constructed using the faces of other people from within the group studied. This discovery has given the researchers confidence in the reliability of the archetypes which they have produced and this is important if such an analytical technique is to find application in discriminating between peoples on a population basis and in syndrome diagnosis.

  13. Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.

    Science.gov (United States)

    Caksen, H; Kurtoğlu, S

    2004-01-01

    Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.

  14. Vitamin D status is insufficient in the majority of children at diagnosis of nephrotic syndrome

    DEFF Research Database (Denmark)

    Nielsen, Cecilie Ane; Jensen, Jens-Erik Bech; Cortes, Dina

    2015-01-01

    INTRODUCTION: Children with nephrotic syndrome (NS) are treated for at least 12 weeks with high doses of prednisolone, which may be harmful to the bones. Vitamin D deficiency is also harmful to the bones. METHODS: This was a prospective study of consecutive children with first episode of NS...... at the time of their diagnosis before treatment with glucocorticoids. The following plasma levels were measured: 25-hydroxy-vitamin-D (25(OH)D), albumin, ionised calcium, phosphate, parathyroid hormone (PTH), alkaline phosphatase and creatinine. The glomerular filtration rate (GFR) was estimated from...... the Schwartz formula, and only patients with normal values were included. RESULTS: A total of 14 children were examined, 13 (93%) had 25(OH)D deficiency including 12 (86%) with moderate or severe vitamin D deficiency. The plasma 25(OH)D was positively associated with plasma albumin (p = 0.031) and negatively...

  15. Rapid polymerase chain reaction diagnosis of white-nose syndrome in bats

    Science.gov (United States)

    Lorch, J.M.; Gargas, A.; Meteyer, C.U.; Berlowski-Zier, B. M.; Green, D.E.; Shearn-Bochsler, V.; Thomas, N.J.; Blehert, D.S.

    2010-01-01

    A newly developed polymerase chain reaction (PCR)-based method to rapidly and specifically detect Geomyces destructans on the wings of infected bats from small quantities (1-2 mg) of tissue is described in the current study (methods for culturing and isolating G. destructans from bat skin are also described). The lower limits of detection for PCR were 5 fg of purified fungal DNA or 100 conidia per 2 mg of wing tissue. By using histology as the standard, the PCR had a diagnostic specificity of 100% and a diagnostic sensitivity of 96%, whereas the diagnostic sensitivity of culture techniques was only 54%. The accuracy and fast turnaround time of PCR provides field biologists with valuable information on infection status more rapidly than traditional methods, and the small amount of tissue required for the test would allow diagnosis of white-nose syndrome in live animals.

  16. A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome.

    Science.gov (United States)

    Kirchhoff, Gertrud; Kirchhoff, Chlodwig; Buhmann, Sonja; Kanz, Karl-Georg; Lenz, Miriam; Vogel, Tobias; Kichhoff, Rainer Maria

    2006-06-26

    Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck pain and limited movement of the cervical spine. Surprisingly, the adequate radiologic examination revealed a bilateral ossification of the stylohyoid ligament complex. Her symptoms remained intractable from conservative treatment consisting of anti-inflammatory medication as well as physical therapy. Hence the patient was admitted to surgical resection of the ossified stylohyoid ligament complex. Afterwards she was free of any complaints and went back to work. Therefore, ossification of the stylohyoid ligament complex causing severe neck pain and movement disorder should be regarded as a rare differential diagnosis of occupational related neck pain.

  17. Myelodysplastic syndromes: recent progress in diagnosis and understanding of their pathophysiology.

    Science.gov (United States)

    Ogata, Kiyoyuki

    2006-12-01

    Myelodysplastic syndromes (MDS) are common malignant disorders with a poor prognosis. MDS are a group of highly heterogeneous disorders but show certain universal findings including a high incidence in the elderly population, cytopenia, dysplastic myeloid cells, and frequent transformation to acute myeloid leukemia. Until recently, the vast majority of MDS patients were treated with supportive therapy alone, such as transfusions. Allogeneic stem cell transplantation (SCT) has the potential for cure, although due to the age and comorbidity of MDS patients, the role of allogeneic SCT in MDS has been limited. Recently, research in MDS has shown substantial advances that have deepened our understanding of MDS pathophysiology and changed our approach to MDS patients. This review touches on some recent developments in the diagnosis and pathophysiology of MDS.

  18. The price of a 15-year delay in diagnosis of Sheehan's syndrome.

    Science.gov (United States)

    Parikh, Rohan; Buch, Varun; Makwana, Mitesh; Buch, Harit N

    2016-04-01

    We describe a case of a 48-year-old woman who presented with a 15-year history of recurrent episodes of hypoglycemia and hyponatremia leading to altered behavior and generalized seizures. She underwent full clinical assessment, endocrine tests, and a pituitary magnetic resonance scan that showed pananterior hypopituitarism secondary to postpartum pituitary necrosis (Sheehan's syndrome). She was commenced on appropriate hormone replacement therapy, which led to significant improvement in lethargy, anorexia, muscle weakness, and episodes of hypoglycemia. In addition to the alleviation of her physical symptoms, she experienced a significant improvement in her psychological well-being and reduction in hospital visits. This case illustrates the impact of delay in diagnosis of an easily treatable medical condition and its socioeconomic implications, especially for the population of a developing country like India.

  19. The price of a 15-year delay in diagnosis of Sheehan's syndrome

    Science.gov (United States)

    Parikh, Rohan; Buch, Varun; Makwana, Mitesh

    2016-01-01

    We describe a case of a 48-year-old woman who presented with a 15-year history of recurrent episodes of hypoglycemia and hyponatremia leading to altered behavior and generalized seizures. She underwent full clinical assessment, endocrine tests, and a pituitary magnetic resonance scan that showed pananterior hypopituitarism secondary to postpartum pituitary necrosis (Sheehan's syndrome). She was commenced on appropriate hormone replacement therapy, which led to significant improvement in lethargy, anorexia, muscle weakness, and episodes of hypoglycemia. In addition to the alleviation of her physical symptoms, she experienced a significant improvement in her psychological well-being and reduction in hospital visits. This case illustrates the impact of delay in diagnosis of an easily treatable medical condition and its socioeconomic implications, especially for the population of a developing country like India. PMID:27034575

  20. Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes

    Directory of Open Access Journals (Sweden)

    V. P. Fedotov

    2012-01-01

    Full Text Available Hereditary myotonic syndromes (HMS are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies with evident clinical polymorphism and high prevalence in the population. The differential diagnosis of early‑stage NMS poses a challenge to clinicians to this day. The investigation has attempted to elaborate informative differentiating criteria on the basis of a clinical and electromyographic study of 2 groups of patients with hereditary Thomsen or Becker myotonia (n = 45 and myotonic dystrophy type 1 (n = 39 verified by DNA analysis of the CLCN1 and DMPK genes. Along with the clinical symptoms, there may be the value of M‑response amplitude decrement in rhythmic stimulation of the n. ulnaris and the duration of myotonic discharges at pin electromyography of the m. tibialis anterior.

  1. Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage.

    Science.gov (United States)

    Alam, Areej; Adhi, Mehreen; Bano, Raffat; Zubair, Aisha; Mushtaq, Ammara

    2013-01-01

    Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.

  2. ESTIMATION OF HIGHLY SENSITIVE TROPONIN TESTS IN THE DIAGNOSIS OF ACUTE CORONARY SYNDROME

    Directory of Open Access Journals (Sweden)

    L. V. Kremneva

    2016-01-01

    Full Text Available Review is devoted to the value of the use of highly sensitive troponin (hs-cTn tests in the diagnosis of acute coronary syndrome. The classification of the Tn-tests depending on their sensitivity is presented. The possible reasons of troponins appearance in blood of healthy people are shown. Authors consider a 3-hour algorithm for myocardial infarction (MI diagnostic, recommended by the expert group in 2012. Study results of 2011-2015 years are presented as the basis for the development of a one-hour MI diagnostic algorithm, recommended by the European Society of Cardiology in 2015. Authors discuss the results of studies showing that modern HS-cTnt tests (together with ECG assessment are capable to diagnose MI in the early stages. They significantly increase the number of identified MI, especially MI without ST segment elevation, as well as identify the group of patients with subsequent favorable prognosis.

  3. Ureteroiliac Artery Fistula in a Young Woman with Short Bowel Syndrome for Radiation Enteritis

    Directory of Open Access Journals (Sweden)

    Lidia Santarpia

    2010-01-01

    Full Text Available Ureteral-iliac artery fistula is a rare and potentially life-threatening complication, typically occurring after radiation therapy in already surgically treated cancer patients. This case report describes the diagnostic challenges and the successful management, with the positioning of an intra-arterial prosthesis, of a fistula between the internal iliac artery and the left ureter presenting as massive hematuria in a young woman with history of total colectomy and pelvic radiotherapy for rectal cancer and subsequent wide ileal resections and bilateral ureteral stent positioning for radiation enteritis. Ureteroiliac artery fistulas require a prompt diagnosis and intervention, to avoid life threatening clinical events.

  4. First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case.

    Science.gov (United States)

    Braithwaite, J M; Economides, D L

    1995-12-01

    Meckel-Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non-invasive diagnosis of this condition at 12+2 weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.

  5. Identifying radiation-induced survivorship syndromes affecting bowel health in a cohort of gynecological cancer survivors

    Science.gov (United States)

    Steineck, Gunnar; Skokic, Viktor; Bull, Cecilia; Alevronta, Eleftheria; Dunberger, Gail; Bergmark, Karin; Wilderäng, Ulrica; Oh, Jung Hun; Deasy, Joseph O.; Jörnsten, Rebecka

    2017-01-01

    Background During radiotherapy unwanted radiation to normal tissue surrounding the tumor triggers survivorship diseases; we lack a nosology for radiation-induced survivorship diseases that decrease bowel health and we do not know which symptoms are related to which diseases. Methods Gynecological-cancer survivors were followed-up two to 15 years after having undergone radiotherapy; they reported in a postal questionnaire the frequency of 28 different symptoms related to bowel health. Population-based controls gave the same information. With a modified factor analysis, we determined the optimal number of factors, factor loadings for each symptom, factor-specific factor-loading cutoffs and factor scores. Results Altogether data from 623 survivors and 344 population-based controls were analyzed. Six factors best explain the correlation structure of the symptoms; for five of these a statistically significant difference (P< 0.001, Mann-Whitney U test) was found between survivors and controls concerning factor score quantiles. Taken together these five factors explain 42 percent of the variance of the symptoms. We interpreted these five factors as radiation-induced syndromes that may reflect distinct survivorship diseases. We obtained the following frequencies, defined as survivors having a factor loading above the 95 percent percentile of the controls, urgency syndrome (190 of 623, 30 percent), leakage syndrome (164 of 623, 26 percent), excessive gas discharge (93 of 623, 15 percent), excessive mucus discharge (102 of 623, 16 percent) and blood discharge (63 of 623, 10 percent). Conclusion Late effects of radiotherapy include five syndromes affecting bowel health; studying them and identifying the underlying survivorship diseases, instead of the approximately 30 long-term symptoms they produce, will simplify the search for prevention, alleviation and elimination. PMID:28158314

  6. Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years after Initial Diagnosis

    Science.gov (United States)

    Gillberg, I. Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher

    2016-01-01

    We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had "never" met criteria for an additional psychiatric/neurodevelopmental diagnosis and…

  7. Asperger Syndrome and Autism: A Comparative Longitudinal Follow-Up Study More than 5 Years after Original Diagnosis

    Science.gov (United States)

    Cederlund, Mats; Hagberg, Bibbi; Billstedt, Eva; Gillberg, I. Carina; Gillberg, Christopher

    2008-01-01

    Prospective follow-up study of 70 males with Asperger syndrome (AS), and 70 males with autism more than 5 years after original diagnosis. Instruments used at follow-up included overall clinical assessment, the Diagnostic Interview for Social and Communication Disorders, Wechsler Intelligence Scales, Vineland Adaptive Behavior Scales, and Global…

  8. Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years after Initial Diagnosis

    Science.gov (United States)

    Gillberg, I. Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher

    2016-01-01

    We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had "never" met criteria for an additional psychiatric/neurodevelopmental diagnosis and…

  9. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Ravelli, Angelo; Minoia, Francesca; Davì, Sergio; Horne, AnnaCarin; Bovis, Francesca; Pistorio, Angela; Aricò, Maurizio; Avcin, Tadej; Behrens, Edward M; De Benedetti, Fabrizio; Filipovic, Alexandra; Grom, Alexei A; Henter, Jan-Inge; Ilowite, Norman T; Jordan, Michael B; Khubchandani, Raju; Kitoh, Toshiyuki; Lehmberg, Kai; Lovell, Daniel J; Miettunen, Paivi; Nichols, Kim E; Ozen, Seza; Pachlopnik Schmid, Jana; Ramanan, Athimalaipet V; Russo, Ricardo; Schneider, Rayfel; Sterba, Gary; Uziel, Yosef; Wallace, Carol; Wouters, Carine; Wulffraat, Nico; Demirkaya, Erkan; Brunner, Hermine I; Martini, Alberto; Ruperto, Nicolino; Cron, Randy Q

    2016-01-01

    OBJECTIVE: To identify which laboratory tests that change over time are most valuable for the timely diagnosis of macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (sJIA). METHODS: A multistep process, based on a combination of expert consensus and analysis of

  10. FDG-PET/CT as a New Method for Diagnosis and Whole-Body Evaluation of Lemierre Syndrome

    NARCIS (Netherlands)

    Pijl, Jordy P; Glaudemans, Andor W J M; Slart, Riemer H J A; Kwee, Thomas C

    Lemierre syndrome is a rare disease that is defined by a pharyngeal infection, complicated by septicemia and internal jugular vein thrombosis followed by septic emboli. Because of its rarity, a delay in diagnosis is not uncommon. However, given the mortality rate of approximately 2%, prompt

  11. Bronchial wall measurements in patients after lung transplantation: evaluation of the diagnostic value for the diagnosis of bronchiolitis obliterans syndrome

    NARCIS (Netherlands)

    Dettmer, S.; Peters, L.; Wall, C. de; Schaefer-Prokop, C.M.; Schmidt, M.; Warnecke, G.; Gottlieb, J.; Wacker, F.; Shin, H.O.

    2014-01-01

    To prospectively evaluate quantitative airway wall measurements of thin-section {CT} for the diagnosis of Bronchiolitis Obliterans Syndrome ({BOS}) following lung transplantation.In 141 {CT} examinations, bronchial wall thickness ({WT}), the wall area percentage ({WA%}) calculated as the ratio of

  12. Efficacy of Three-Dimensional Contrast-Enhanced Magnetic Resonance Angiography (3D CE-MRA in the Diagnosis of Thoracic Outlet Syndrome

    Directory of Open Access Journals (Sweden)

    Ercüment Ünlü

    2011-09-01

    Full Text Available Objective: The purpose of this study is to evaluate the effect of various upper extremity positions (adduction-abduction on vascular structures in contrast-enhanced three-dimensional MR angiographic studies performed in patients with thoracic outlet syndrome.Materials and Methods: Twenty-two consecutive patients with clinical symptoms of neurovascular thoracic outlet syndrome were examined by 1.0 T MR unit. Examinations were studied by three-dimensional contrast-enhanced MR angiography with the arms positioned in abduction and adduction in the same patients. Results: In twenty-one of 44 subclavian arteries, impingement or stenosis with different degrees were found. Majority of lesions were localized in the costoclavicular region. Venous phase sequences of contrast-enhanced MR angiography showed compression of the subclavian vein in the 17 areas.Conclusion: Thoracic outlet syndrome remains controversial in both diagnosis and treatment, particulary in patients with no muscle atrophy, hand ischemia findings or venous stasis symptoms. Three-dimensional contrast-enhanced MR angiography is noninvasive and requires neither ionizing radiation nor administration of iodinated contrast material- and may be used to diagnose early compression findings and stenosis of the subclavian vessels.

  13. Early diagnosis of primary Sjögren's syndrome: EULAR-SS task force clinical recommendations.

    Science.gov (United States)

    Brito-Zerón, Pilar; Theander, Elke; Baldini, Chiara; Seror, Raphaèle; Retamozo, Soledad; Quartuccio, Luca; Bootsma, Hendrika; Bowman, Simon J; Dörner, Thomas; Gottenberg, Jacques-Eric; Mariette, Xavier; Bombardieri, Stefano; de Vita, Salvatore; Mandl, Thomas; Ng, Wan-Fai; Kruize, Aike A; Tzioufas, Athanasios; Vitali, Claudio; Buyon, Jill; Izmirly, Peter; Fox, Robert; Ramos-Casals, Manuel

    2016-01-01

    Sjögren's syndrome (SjS) is a systemic autoimmune disease that mainly affects the exocrine glands, leading to generalized mucosal dryness. However, primary SjS may initially present with non-sicca (systemic) manifestations. When these features appear before the onset of an overt sicca syndrome, we may talk of an underlying 'occult' SjS. The European League Against Rheumatism (EULAR) has promoted and supported an international collaborative study group (EULAR-SS Task Force) aimed at developing consensual recommendations to provide a homogeneous approach to the patient with primary SjS presenting with systemic involvement. This review summarizes the key factors that should be taken into account in the diagnostic approach in a patient with suspected SjS according to the main clinical patterns of presentation, and is especially focused on organ-specific systemic disease presentations, including a consensus set of recommendations in order to reach an early diagnosis. Close collaboration with the different specialties involved through a comprehensive multidisciplinary approach is essential in SjS patients presenting with systemic involvements.

  14. Cannabinoid hyperemesis syndrome: Clinical diagnosis of an underrecognised manifestation of chronic cannabis abuse

    Institute of Scientific and Technical Information of China (English)

    Siva P Sontineni; Sanjay Chaudhary; Vijaya Sontineni; Stephen J Lanspa

    2009-01-01

    Cannabis is a common drug of abuse that is associated with various long-term and short-term adverse effects.The nature of its association with vomiting after chronic abuse is obscure and is underrecognised by clinicians. In some patients this vomiting can take on a pattern similar to cyclic vomiting syndrome with a peculiar compulsive hot bathing pattern, which relieves intense feelings of nausea and accompanying symptoms. In this case report, we describe a twentytwo year-old-male with a history of chronic cannabis abuse presenting with recurrent vomiting, intense nausea and abdominal pain. In addition, the patient reported that the hot baths improved his symptoms during these episodes. Abstinence from cannabis led to resolution of the vomiting symptoms and abdominal pain. We conclude that in the setting of chronic cannabis abuse, patients presenting with chronic severe nausea and vomiting that can sometimes be accompanied by abdominal pain and compulsive hot bathing behaviour, in the absence of other obvious causes, a diagnosis of cannabinoid hyperemesis syndrome should be considered.

  15. The importance of using fluorescence in situ hybridization for the diagnosis of Smith-Magenis syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Juyal, R.C.; Greenberg, F.; Lupski, J.R. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly/mental retardation syndrome associated with deletion of chromosome 17p11.2. Quality metaphase preparations are required for unambiguous detection of the deletion. We and others have reported cases of SMS due to mosaicism for del(17)(p11.2). Examination of peripheral blood lymphocyte cultures of a patient with the SMS phenotype at 850 band level of resolution revealed a low level mosaicism (11%) for the deletion. Examination of fibroblasts at relatively low resolution revealed the deletion in all cells. In a second study, we reported molecular evidence for mosaicism in the unaffected mother of an SMS patient who demonstrated mosaicism (55%) for the deletion at a resolution level of < 500 bands. We now report a different SMS patient who was initially diagnosed as mosaic del(17)(p11.2) in two different cytogenetic laboratories. A third blinded cytogenetic study yielded a questionable diagnosis. Fluorescence in situ hybridization (FISH) conducted in two different laboratories with two different markers shown to be within the deletion region and a control marker from chromosome 17 demonstrated a deletion in 20/20 and 25/25 metaphases scored, respectively. It appears the latter patient may harbor a very small deletion and that FISH is a more reliable test for the Smith-Magenis deletion. Furthermore, FISH should be used to confirm or refute mosaicism seen in routine cytogenetics studies.

  16. Infrared thermography based on artificial intelligence for carpal tunnel syndrome diagnosis.

    Science.gov (United States)

    Jesensek Papez, B; Palfy, M; Turk, Z

    2008-01-01

    Thermography for the measurement of surface temperatures is well known in industry, although is not established in medicine despite its safety, lack of pain and invasiveness, easy reproducibility, and low running costs. Promising results have been achieved in nerve entrapment syndromes, although thermography has never represented a real alternative to electromyography. Here an attempt is described to improve the diagnosis of carpal tunnel syndrome with thermography using a computer-based system employing artificial neural networks to analyse the images. Method reliability was tested on 112 images (depicting the dorsal and palmar sides of 26 healthy and 30 pathological hands), with the hand divided into 12 segments and compared relative to a reference. Palmar segments appeared to have no beneficial influence on classification outcome, whereas dorsal segments gave improved outcome with classification success rates near to or over 80%, and finger segments influenced by the median nerve appeared to be of greatest importance. These are preliminary results from a limited number of images and further research will be undertaken as our image database grows.

  17. Ambulatory monitoring in the diagnosis and management of obstructive sleep apnoea syndrome

    Directory of Open Access Journals (Sweden)

    Jaime Corral-Peñafiel

    2013-09-01

    Full Text Available Obstructive sleep apnoea (OSA is a highly prevalent disorder associated with complications such as arterial hypertension, cardiovascular diseases and traffic accidents. The resources allocated for OSA are insufficient and OSA is a significant public health problem. Portable recording devices have been developed for the detection of OSA syndrome and have proved capable of providing an equivalent diagnosis to in-laboratory polysomnography (PSG, at least in patients with a high pre-test probability of OSA syndrome. PSG becomes important in patients who have symptoms and certain comorbidities such as chronic obstructive pulmonary disease or stroke, as well as in patients with a clinical history suggesting a different sleep disorder. Continuous positive airway pressure is the most effective treatment in OSA. Ambulatory monitoring of the therapeutic modalities has been evaluated to enhance the care process and reduce costs compared to the conventional approach, without sacrificing efficiency. This review evaluates the role of portable monitoring devices in the diagnostic process of OSA and the search for alternative strategies based on ambulatory management protocols.

  18. An evaluation of laboratory tests for the detection and differential diagnosis of Cushing's syndrome.

    Science.gov (United States)

    Hankin, M E; Theile, H M; Steinbeck, A W

    1977-03-01

    1. Results of tests for the diagnosis of Cushings syndrome of varoius aetiologies are discussed for twenty-five patients in whom the pathology was established by operation or autopsy. 2. Control values for the urinary excretion of free cortisol, 17-OHCS, Porter-Silber chromogens (P-SC) and 17-OS and plasma levels of P-SC are compared with those for normal subjects. 3. The results indicated that urinary values are within the normal range for some patients with Cushing's syndrome. 4. Plasma levels of P-SC in the morning were within the normal range for the majority and elevated for the rest. 5. Some patients showed day-night variation of plasma P-SC but evening values were above the normal range. 6. The expected response for low dosage dexamethasone was found in all patients tested but unexpected responses followed high dosage in some. 7. Plasma 11-OHCS in the five patients tested failed to respond to insulin induced hypoglycaemia. 8. Metyrapone administration and corticotrophin infusion tests had limited usefulness in establishing the aetiology of the disease. The 17-OHCS excretion became raised in the response to corticotrophin and the evaluation was prolonged beyond normal responsiveness.

  19. Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome.

    Science.gov (United States)

    Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher

    2011-01-01

    In children with autism spectrum disorders, previous studies have shown high rates of psychiatric comorbidity. To date, studies on adults have been scarce. The aim of the present study was to investigate psychiatric comorbidity in young adults with Asperger syndrome. Participants were 26 men and 28 women (mean age 27 years) with a clinical diagnosis of Asperger syndrome. Psychiatric comorbidity was assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders. IQ was measured using the Wechsler Adult Intelligence Scale, Third Edition. Autism spectrum diagnoses were confirmed using the DIagnostic Interview for Social and Communication Disorders. In our study group, 70% had experienced at least one episode of major depression, and 50% had suffered from recurrent depressive episodes. Anxiety disorders were seen in about 50%. Psychotic disorders and substance-induced disorders were uncommon. In conclusion, young adults with autism spectrum disorders are at high risk for mood and anxiety disorders. To identify these conditions and offer treatment, elevated vigilance is needed in clinical practice.

  20. WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome.

    Science.gov (United States)

    Sadahira, Yoshito; Sugihara, Takashi; Fujiwara, Hideyo; Nishimura, Hirotake; Suetsugu, Yoshimasa; Takeshita, Morishige; Okamura, Seiichi; Goto, Makoto

    2015-03-01

    Genetic testing for mutations in the WRN gene is critical for the diagnosis of Werner syndrome (WS); however, these tests cannot be performed in a clinical setting. Nearly all of the WRN mutations result in expression of truncated WRN proteins that are missing the C-terminal nuclear localization signal. We evaluated the use of WRN protein immunohistochemistry for diagnosing WS using paraffin-embedded bone marrow sections. Using a well-defined commercially available polyclonal antibody against the C terminus of WRN, we found that of all the cell types tested, bone marrow erythroid precursors showed the strongest nuclear expression of WRN. Immunohistochemical analysis of bone marrow samples from 120 patients with non-WS hematological disorders (age range, 7 days-90 years) revealed WRN staining of the nuclei of CD71-positive early and late erythroid precursors. Erythroblasts negative for WRN immunostaining were only observed in two patients, both of whom were diagnosed with WS: one with concomitant myelodysplastic syndrome and the other with erythroleukemia with overexpression of TP53. Western blot analysis and immunocytochemistry indicated WRN was localized in the nuclei of the four positive control cell lines from non-WS patients but not in the five cell lines from WS patients, who had three different types of WRN mutations. Thus, immunohistochemical detection of WRN in erythroblasts from bone marrow paraffin sections could be useful in screening of WS cases and worthy of further molecular confirmation.

  1. Ultrasound imaging of embedded shrapnel facilitates diagnosis and management of myofascial pain syndrome.

    Science.gov (United States)

    Shankar, Hariharan; Cummings, Craig

    2013-06-01

    Trigger points can result from a variety of inciting events including muscle overuse, trauma, mechanical overload, and psychological stress. When the myofascial trigger points occur in cervical musculature, they have been known to cause headaches. Ultrasound imaging is being increasingly used for the diagnosis and interventional management of various painful conditions. A veteran was referred to the pain clinic for management of his severe headache following a gunshot wound to the neck with shrapnel embedded in the neck muscles a few years prior to presentation. He had no other comorbid conditions. Physical examination revealed a taut band in the neck. An ultrasound imaging of the neck over the taut band revealed the deformed shrapnel located within the levator scapulae muscle along with an associated trigger point in the same muscle. Ultrasound guided trigger point injection, followed by physical therapy resolved his symptoms. This is a unique report of embedded shrapnel and coexisting myofascial pain syndrome revealed by ultrasound imaging. The association between shrapnel and myofascial pain syndrome requires further investigation.

  2. Diagnosis and Treatment of Cerebral Salt Wasting Syndrome With Cryptococcal Meningitis in HIV Patient.

    Science.gov (United States)

    Lee, Sunggeun; Collado, Anitsira; Singla, Montish; Carbajal, Roger; Chaudhari, Ashok; Baumstein, Donald

    2016-01-01

    Hyponatremia is one of the most common electrolyte imbalances in HIV patients. The differential diagnosis may include hypovolemic hyponatremia, syndrome of inappropriate antidiuretic hormone secretion (SIADH), and adrenal insufficiency. Here, we describe a case of hyponatremia secondary to cerebral salt wasting syndrome (CSWS) in an HIV patient with cryptococcal meningitis. A 52-year-old man with a history of diabetes and HIV was admitted for headache and found to have cryptococcal meningitis. He was also found to have asymptomatic hyponatremia. He had signs of hypovolemia, such as orthostatic hypotension, dry mucosa, decreased skin turgor, hemoconcentration, contraction alkalosis, and high BUN/Cr ratio. The laboratory findings revealed sodium of 125 mmol/L, potassium of 5.5 mmol/L, urine osmolality of 522 mOsm/kg, urine sodium of 162 mmol/L, and urine chloride of 162 mmol/L. We started normal saline for hypovolemia, each 1 L prior and after amphotericin therapy. However, hypovolemia did not improve significantly despite IV fluid. Cosyntropin stimulation test was negative, and renin level was 0.25 ng·mL·h, with the aldosterone level of Salt tablets, normal saline, or fludrocortisone can be used for treatment.

  3. Verification of medical diagnosis establishments with X radiation; Verificacion de establecimientos de diagnostico medico con rayos X

    Energy Technology Data Exchange (ETDEWEB)

    Azorin N, J. [Lider Nacional de Proteccion Radiologica, Comision Federal para la Proteccion contra Riesgos Sanitarios, Monterrey No. 33, Col. Roma, 06700 Mexico D. F. (Mexico)

    2008-12-15

    In regard to verification of medical diagnosis establishments with X radiation, it is very important to the coordination between the competent authorities such as the coordination achieved between the Federal Commission for the Protection against Sanitary Risks attached to the Health Secretary and the National Commission of Nuclear Safety and Safeguards, under the Energy Secretary. The Health Secretary found a subcommittee of environmental health standards to develop the Mexican Official Standards of medical diagnosis with X-rays, with the participation of over 50 institutions and experts in Mexico. The legal framework governing the procedures for health surveillance in radiology include the Health General Law, the Internal Regulation of the Health Secretary, the Regulation of the Federal Commission for the Protection against Sanitary Risks and the Mexican Official Standard NOM-229 SSA1 -2002, {sup T}echnical requirements for the facilities, health responsibilities, technical specifications for the equipment and radiation protection in medical diagnosis establishments with X-rays{sup .} Among the participated institutions in the revision of this standard were federal government agencies, public and private sector institutions, educational institutions and professional associations. The standard establishes criteria for design, construction and facilities maintenance, technical requirements for the acquisition and operation vigilance of equipment, health requirements and patient protection. Standard observance is for establishments that use X-ray generators for its application in humans with purposes of medical diagnosis either fixed or mobile units. It also contains aspects that must be observed by owners of establishments who hold formal, responsible, own X-ray equipment and consultants with expertise in radiation protection. In the field of diagnosis radiology the Federal Commission for the Protection against Sanitary Risks, has the mission to ensure the patients

  4. Value of ultrasonography in the diagnosis of polycystic ovary syndrome - literature review.

    Science.gov (United States)

    Bachanek, Michał; Abdalla, Nebil; Cendrowski, Krzysztof; Sawicki, Włodzimierz

    2015-12-01

    Polycystic ovary syndrome is a multi-factorial disease. Its etiopathogenesis has not been elucidated in detail. It is the most common endocrine disorder in women of child-bearing age. This disease entity is primarily characterized by disrupted ovulation and hyperandrogenism, but the clinical picture can be diversified and symptom intensity can vary. Currently, the sonographic assessment of ovaries is one of the obligatory criteria for the diagnosis of PCOS according to the Rotterdam consensus (2003) and Androgen Excess & PCOS Society (2006). This criterion is determined by the presence of ≥12 follicles within the ovary with a diameter of 2-9 mm and/or ovarian volume ≥10 cm(3). Such an ultrasound image in one gonad only is sufficient to define polycystic ovaries. The coexistence of polycystic ovaries with polycystic ovary syndrome is confirmed in over 90% of cases irrespective of ethnic factors or race. However, because of the commonness of ultrasound features of polycystic ovaries in healthy women, the inclusion of this sign to the diagnostic criteria of polycystic ovary syndrome is still questioned. The development of new technologies has an undoubted influence on the percentage of diagnosed polycystic ovaries. This process has caused an increase in the percentage of polycystic ovary diagnoses since the Rotterdam criteria were published. It is therefore needed to prepare new commonly accepted diagnostic norms concerning the number of ovarian follicles and the standardization of the technique in which they are counted. The assessment of anti-Müllerian hormone levels as an equivalent of ultrasound features of polycystic ovaries is a promising method. However, analytic methods have to be standardized in order to establish commonly accepted diagnostic norms.

  5. Chronic Localized Back Pain Due to Posterior Cutaneous Nerve Entrapment Syndrome (POCNES): A New Diagnosis.

    Science.gov (United States)

    Boelens, Oliver B; Maatman, Robert C; Scheltinga, Marc R; van Laarhoven, Kees; Roumen, Rudi M

    2017-03-01

    Most patients with chronic back pain suffer from degenerative thoracolumbovertebral disease. However, the following case illustrates that a localized peripheral nerve entrapment must be considered in the differential diagnosis of chronic back pain. We report the case of a 26-year-old woman with continuous excruciating pain in the lower back area. Previous treatment for nephroptosis was to no avail. On physical examination the pain was present in a 2 x 2 cm area overlying the twelfth rib some 4 cm lateral to the spinal process. Somatosensory testing using swab and alcohol gauze demonstrated the presence of skin hypo- and dysesthesia over the painful area. Local pressure on this painful spot elicited an extreme pain response that did not irradiate towards the periphery. These findings were highly suggestive of a posterior version of the anterior cutaneous nerve entrapment syndrome (ACNES), a condition leading to a severe localized neuropathic pain in anterior portions of the abdominal wall. She demonstrated a beneficial albeit temporary response after lidocaine infiltration as dictated by an established diagnostic and treatment protocol for ACNES. She subsequently underwent a local neurectomy of the involved superficial branch of the intercostal nerve. This limited operation had a favorable outcome resulting in a pain-free return to normal activities up to this very day (follow-up of 24 months).We propose to name this novel syndrome "posterior cutaneous nerve entrapment syndrome" (POCNES). Each patient with chronic localized back pain should undergo simple somatosensory testing to detect the presence of overlying skin hypo- and dysesthesia possibly reflecting an entrapped posterior cutaneous nerve.Key words: Chronic pain, back pain, posterior cutaneous nerve entrapment, peripheral nerve entrapment, surgical treatment for pain, anterior cutaneous nerve entrapment.

  6. Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management

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    Mantelli F

    2016-05-01

    Full Text Available Flavio Mantelli,1 Alice Bruscolini,2 Maurizio La Cava,2 Solmaz Abdolrahimzadeh,2 Alessandro Lambiase2 1Department of Biology, College of Science and Technology, Temple University, Philadelphia, PA, USA; 2Department of Sense Organs, Section of Ophthalmology, University of Rome “Sapienza”, Rome, Italy Abstract: Sturge–Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%–70%. Glaucoma is related to anterior chamber malformations, high episcleral venous pressure (EVP, and changes in ocular hemodynamics. Glaucoma can be diagnosed at birth, but the disease can also develop during childhood and in adults. The management of glaucoma in Sturge–Weber syndrome patients is particularly challenging because of early onset, frequently associated severe visual field impairment at the time of diagnosis, and unresponsiveness to standard treatment. Several surgical approaches have been proposed, but long-term prognosis for both intraocular pressure control and visual function remains unsatisfactory in these patients. Choroidal hemangiomas may also lead to visual impairment thorough exudative retinal detachment and macular edema. Treatment of exudative hemangioma complications is aimed at destructing the tumor or decreasing tumor leakage. Keywords: Sturge–Weber syndrome, glaucoma, choroidal hemangiomas, port-wine stain, congenital disease, glaucoma surgery

  7. CONTRIBUTION OF THE AUDIOLOGICAL AND VESTIBULAR ASSESSMENT TO THE DIFFERENTIAL AND ETIOLOGICAL DIAGNOSIS OF PERIPHERIC VESTIBULAR SYNDROMES

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    Loreta Ungureanu

    2012-09-01

    Full Text Available Scope of the study: Vestibular pathology is a complex one, requiring a minute clinical evaluation, as well as numerous paraclinical investigations. The present study analyzes the contribution of the modern methods of vestibular and auditive investigation to the diagnosis of dizziness. Materials and method: The results of the investigations performed on 84 patients with peripheric vestibular syndrome, on whom a complete audiological and vestibular assessment had been also made, have been retrospectively analyzed. Results: Anamnestic data and the results of evaluation permitted classification of peripheric vestibular pathology according to topo-lesional and etiological criteria. The most frequently diagnosed diseases were: benign paroxysmal positional vertigo, Ménière syndrome and vestibular neuronitis. Conclusions: Testing of the vestibulo-ocular and vestibulo-spinal reflexes through videonystagmoscopy and, respectively, computerized dynamic posturography, besides tonal vocal audiometry and precocious auditive potentials, is especially important for a positive diagnosis and etiological differentiation of vestibular syndromes.

  8. Differential Diagnosis of a Severe Late Onset Ovarian Hyperstimulation Syndrome Associated with Prolonged Ascites Production – a Case Report

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    Ujvari E

    2005-01-01

    Full Text Available Capsule: A case of severe late onset ovarian hyperstimulation syndrome (OHSS with prolonged ascites production. Difficulties of differential diagnosis and management. Objective: This report describes a case of extremely prolonged, severe ovarian hyperstimulation syndrome. Results: 17 litres of ascites have been removed from the abdominal cavity by repeated paracenteses until the 25th week of pregnancy, which progressed after the complete resolution of symptoms to the 34th week, when cesarean section was done. Conclusion: Severe ovarian hyperstimulation syndrome can occasionally follow an unusually prolonged course. Chronic formation of abundant ascites, the presence of ovarian enlargement and elevated levels of certain tumour markers might raise the probability of ovarian cancer. Adequate differential diagnosis and management resulted in delivery of a healthy newborn.

  9. Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

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    Sira Korpaisarn

    2013-01-01

    Full Text Available We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

  10. Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

    NARCIS (Netherlands)

    Hillen, L.M.; Kamsteeg, E.J.; Schoots, J.; Tiebosch, A.T.; Speel, E.J.; Roemen, G.M.; Peutz-Koostra, C.J.; Stumpel, C.T.

    2016-01-01

    Congenital nephrotic syndrome (CNS) caused by a mutation in the Wilms tumor 1 suppressor gene (WT1) is part of Denys Drash Syndrome or Frasier syndrome. In the framework of genetic counseling, the diagnosis of CNS can be refined with gene mutation studies on long-term stored formalin-fixed paraffin-

  11. Prevalence of psychiatric disorders in patients with a diagnosis of polycystic ovary syndrome in Kashmir

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    Arshad Hussain

    2015-01-01

    Full Text Available Background: Polycystic ovary syndrome (PCOS is one of the common endocrine disorders and is associated with reproductive, metabolic, and psychological disturbances affecting one in five women of reproductive age group. Objective: To investigate the prevalence of psychiatric disorders among women in ambulatory treatment with a diagnosis of PCOS. Materials and Methods: One hundred and ten patients of PCOS were evaluated using Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria by means of Mini International Neuropsychiatric Interview, English version 5.0.0. Diagnosis of PCOS was confirmed according to the National Institute of Health/National Institute of Child Health and Human Development, 1990 consensus conference criteria. Forty subjects without PCOS who were matched for age and body mass index were taken as a comparison group. Results: About 23% of cases had major depressive disorder as compared to 7.5% of controls, 1.8% had dysthymia, 15.45% had panic disorder compared to 5% of controls, 6.36% had obsessive compulsive disorder compared to 2.5% of controls, 8% cases had suicidality, 2.72% of cases were bipolar affective disorder, and 15.45% had generalized anxiety disorder (GAD. Conclusion: A high prevalence of mental disorders was observed, especially major depression, panic disorder, and GAD in patients with PCOS in our study. The results suggest that screening and appropriate management for psychiatric disorders should be part of the routine evaluation of these patients.

  12. Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation.

    Science.gov (United States)

    Toygar, Hilal Uslu; Toygar, Okan; Guzeldemir, Esra; Cilasun, Ulkem; Nacar, Ahmet; Bal, Nebil

    2009-01-01

    Alport Syndrome (AS) is an important hereditary disorder affecting the glomerular basement membrane. Diagnosis of AS is based on the presence of hematuric nephropathy, renal failure, hearing loss, ocular abnormalities and changes in the glomerular basement membrane of the lamina densa. The aims of this case report were to show the changes in the gingival tissues in a patient with AS under therapy with cyclosporin-A after renal transplantation and to discuss the possible role of type IV collagen in gingival basal lamina as an alternative approach for the diagnosis of AS. A 20-year-old male patient with AS underwent periodontal therapy including a series of gingivectomy surgeries. Gingival samples obtained during the second surgery were examined histopathologically and by transmission electron microscopy for further pathological examination. Gingivectomy procedures have been performed every 6 months over the last 4 years. The excessive and fibrous gingival enlargements resulted in migration of the anterior teeth, but no alveolar bone loss occurred. This is the first report to demonstrate the possible changes in the gingival tissues caused by AS. It is suggested that gingival biopsy can be an initial diagnostic tool instead of renal or skin biopsies. Proper dental and periodontal care and regular visits to the dentist could provide limited gingival hyperplasia to patients with AS.

  13. Recent Developments in Diagnosis and Care for Girls in Turner Syndrome

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    Carolyn Bondy

    2014-01-01

    Full Text Available The past decade produced important advances in molecular genetic techniques potentially supplanting the traditional cytogenetic diagnosis of Turner syndrome (TS. Rapidly evolving genomic technology is used to screen 1st trimester pregnancies for sex chromosomal anomalies including TS, and genomic approaches are suggested for the postnatal diagnosis of TS. Understanding the interpretation and limitations of new molecular tests is essential for clinicians to provide effective counseling to parents or patients impacted by these tests. Recent studies have advanced the concept that X chromosome genomic imprinting influences expression of the Turner phenotype and contributes to gender differences in brain size and coronary disease. Progress in cardiovascular MRI over the past decade has dramatically changed our view of the scope and criticality of congenital heart disease in TS. Cardiac MRI is far more effective than transthoracic echocardiography in detecting aortic valve abnormalities, descending aortic aneurysm, and partial anomalous pulmonary venous return; recent technical advances allow adequate imaging in girls as young as seven without breath holding or sedation. Finally, important developments in the area of gynecological management of girls and young women with TS are reviewed, including prognostic factors that predict spontaneous puberty and potential fertility and recent practice guidelines aimed at reducing cardiovascular risk for oocyte donation pregnancies in TS.

  14. Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

    Science.gov (United States)

    Turchetti, Daniela; Razzaboni, Elisabetta; Zomer, Hila; Rossi, Cesare; Ferrari, Simona; Greco, Donatella; Graziano, Claudio; Romeo, Giovanni; Seri, Marco

    2006-12-01

    Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11-13 imprinted region. Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11-13 (75%) or by paternal uniparental disomy (3-4%). Familial cases can occur, due to mutations in the UBE3A gene or in the imprinting center. We describe the case of a pregnant woman having two nephews with AS caused by a UBE3A mutation; lack of communication within the family led the woman to be completely unaware of the risk of disease recurrence until 15 weeks of gestation. UBE3A genetic testing revealed she carried the familial mutation 892-893delCT. Prenatal diagnosis was performed on amniotic fluid and demonstrated that the fetus had inherited the mutation. The unexpected diagnosis and the subsequent termination of the pregnancy caused the woman to undergo acute psychological distress showing relevant psychopathological symptoms. Nevertheless, at 2-year follow-up, adverse consequences were minimized, and the couple was planning a new pregnancy. Factors affecting the psychological outcome of abortion and the role of psychological support in reducing the risk of long-term unfavorable consequences are discussed.

  15. Locked-in syndrome: a critical and time-dependent diagnosis.

    Science.gov (United States)

    Barbic, David; Levine, Zachary; Tampieri, Donatella; Teitelbau, Jeanne

    2012-09-01

    Locked-in syndrome (LIS) is the combination of quadriplegia and anarthria (inability to speak), with the preservation of consciousness. The majority of cases are caused by basilar artery occlusion leading to brainstem infarction in the ventral pons, yet numerous other etiologies have been described. The diagnosis of LIS is completely dependent on the physician's ability to know that these manifestations originate in the brainstem and the posterior circulation that supplies it. This knowledge hinges on the ability of the examining physician to conduct a rapid, yet appropriately thorough neurologic examination. With recent advances in interventional neuroradiology leading to improved patient outcomes, LIS has evolved into a critical, time-dependent diagnosis. Herein, we present the case of a male patient who initially presented to the emergency department of a community hospital with coma of unknown cause. By presenting this case and focusing on the importance of the occulomotor exam, we hope to help in the rapid identification and treatment of patients with LIS in the emergency room and avoid outcomes similar to that of our patient.

  16. Diagnosis of growth hormone (GH deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency

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    Brauner Raja

    2009-05-01

    Full Text Available Abstract Background Most patients with childhood non-organic growth hormone (GH deficiency (GHD produce a normal GH peak as young adults. Our objectives were to better define this transient GHD and evaluate the factors influencing the growth response of patients with pituitary stalk interruption syndrome (PSIS. Methods We studied 72 prepubertal patients with a GH peak Results At diagnosis, 64% of Group 1 and one Group 2 were During the first year of GH treatment, the growth rate was ≥ 2 SDS in 81% Group 1 and 37% Group 2 patients. In Group 1, it was negatively correlated with the GH peak before treatment (P The height gain SDSs between diagnosis and adult height were 1.7 ± 1.2 in Group 1 (n = 30 and 1.08 ± 0.8 in Group 2 (n = 12, P = 0.05. Conclusion The factors of the growth response to GH treatment should be analysed separately for each population: with and without PSIS or other markers.

  17. Current diagnosis and treatment of cryptococcal meningitis without acquired immunodeifciency syndrome

    Institute of Scientific and Technical Information of China (English)

    Xiao-Su Guo; Ze-Yan Zhao; Hui Bu; Jun-Ying He; Yue-Li Zou; Yue Zhao; Yuan-Yuan Li; Jun-Zhao Cui; Ming-Ming Zheng; Wei-Xin Han

    2016-01-01

    Cryptococcal meningitis (CM) is a central nervous system infectious disease caused by Cryptococcus. It is the most common fungal infection in the central nervous system, accounting for about 48% of fungal infection. The disease occurs mainly in acquired immunodeifciency syndrome (AIDS) patients and concentrates in the immunocompromised people without AIDS. There are nearly one million new cases of CM each year, and about 70% of them died. In China, CM occurs mainly in people without AIDS and there is an increasing trend in recent years. Early diagnosis and treatment is the key to reducing morbidity and mortality associated with CM. The diagnosis mainly depends on laboratory examination such as morphological examination, fungal culture and antigen detection. History, clinical manifestation and imaging examination are the important parts of auxiliary examination. The initial combined antifungal treatment is emphasized, and the principle of fractional treatment including induction, consolidation and maintenance therapy should be followed. The high intracranial pressure must be reduced actively at the same time. In addition, it is proved that the novel immunotherapy combined with antifungal agents can improve the curative effect and limit the chance of antimicrobial resistance. Large-scale clinical trials are needed for further study.

  18. Classification and Clinical Diagnosis of Fibromyalgia Syndrome: Recommendations of Recent Evidence-Based Interdisciplinary Guidelines

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    Mary-Ann Fitzcharles

    2013-01-01

    Full Text Available Objectives. Fibromyalgia syndrome (FMS, characterized by subjective complaints without physical or biomarker abnormality, courts controversy. Recommendations in recent guidelines addressing classification and diagnosis were examined for consistencies or differences. Methods. Systematic searches from January 2008 to February 2013 of the US-American National Guideline Clearing House, the Scottish Intercollegiate Guidelines Network, Guidelines International Network, and Medline for evidence-based guidelines for the management of FMS were conducted. Results. Three evidence-based interdisciplinary guidelines, independently developed in Canada, Germany, and Israel, recommended that FMS can be clinically diagnosed by a typical cluster of symptoms following a defined evaluation including history, physical examination, and selected laboratory tests, to exclude another somatic disease. Specialist referral is only recommended when some other physical or mental illness is reasonably suspected. The diagnosis can be based on the (modified preliminary American College of Rheumatology (ACR 2010 diagnostic criteria. Discussion. Guidelines from three continents showed remarkable consistency regarding the clinical concept of FMS, acknowledging that FMS is neither a distinct rheumatic nor mental disorder, but rather a cluster of symptoms, not explained by another somatic disease. While FMS remains an integral part of rheumatology, it is not an exclusive rheumatic condition and spans a broad range of medical disciplines.

  19. Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation

    Directory of Open Access Journals (Sweden)

    Hilal Uslu Toygar

    2009-12-01

    Full Text Available Alport Syndrome (AS is an important hereditary disorder affecting the glomerular basement membrane. Diagnosis of AS is based on the presence of hematuric nephropathy, renal failure, hearing loss, ocular abnormalities and changes in the glomerular basement membrane of the lamina densa. The aims of this case report were to show the changes in the gingival tissues in a patient with AS under therapy with cyclosporin-A after renal transplantation and to discuss the possible role of type IV collagen in gingival basal lamina as an alternative approach for the diagnosis of AS. A 20-year-old male patient with AS underwent periodontal therapy including a series of gingivectomy surgeries. Gingival samples obtained during the second surgery were examined histopathologically and by transmission electron microscopy for further pathological examination. Gingivectomy procedures have been performed every 6 months over the last 4 years. The excessive and fibrous gingival enlargements resulted in migration of the anterior teeth, but no alveolar bone loss occurred. This is the first report to demonstrate the possible changes in the gingival tissues caused by AS. It is suggested that gingival biopsy can be an initial diagnostic tool instead of renal or skin biopsies. Proper dental and periodontal care and regular visits to the dentist could provide limited gingival hyperplasia to patients with AS.

  20. Diagnostic Value of Ultrasound Compared to Electro Diagnosis in Carpal Tunnel Syndrome

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    Seyed Mansour Rayegani

    2014-10-01

    Full Text Available Introduction: Carpal Tunnel Syndrome (CTS is one of the main causes of disability. The diagnosis of CTS confirm by electrodiagnostic tests. Sonography is an alternative method for diagnosis of CTS that can investigate anatomy and probable pathology. The aim of this study is to investigate the multiple sonographic diagnostic criteria and compare its diagnostic value with electrodiagnosis. Materials and Methods:In this descriptive-cross sectional study, 84 wrists (42 patients with CTS and 42 individuals without any clinical signs in upper limb were investigated. Symptomatic patients underwent clinical examination, standard electrodiagnostic evaluation of upper limb and sonographic investigation of median nerve in forearm and wrist. The control group underwent sonographic investigation. Results: Cross Sectional Area (CSA of Median nerve at distal wrist crease, at the level of Hamate hook and Trapezium, the amount of flexor retinaculum bowing, ratio of CSA at the forearm to distal wrist crease and ratio of CSA at the Pisiform level to distal wrist crease had significant difference in the case group compared to the control group (P-value