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Sample records for hypereosinophilic syndrome clinical

  1. Clinical and Biological Markers in Hypereosinophilic Syndromes

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    Paneez Khoury

    2017-12-01

    Full Text Available Hypereosinophilic syndromes (HES are rare, heterogeneous syndromes characterized by markedly elevated eosinophil counts in the blood and/or tissue and evidence of eosinophil-associated pathology. Although parasitic infections, drug hypersensitivity, and other disorders of defined etiology can present as HES (associated HES, treatment is directed at the underlying cause rather than the eosinophilia itself. A number of additional subtypes of HES have been described, based on clinical and laboratory features. These include (1 myeloid HES—a primary disorder of the myeloid lineage, (2 lymphocytic variant HES—eosinophilia driven by aberrant or clonal lymphocytes secreting eosinophil-promoting cytokines, (3 overlap HES—eosinophilia restricted to a single organ or organ system, (4 familial eosinophilia—a rare inherited form of HES, and (5 idiopathic HES. Since clinical manifestations, response to therapy, and prognosis all differ between HES subtypes, this review will focus on clinical and biological markers that serve as markers of disease activity in HES (excluding associated HES, including those that are likely to be useful only in specific clinical subtypes.

  2. Hypereosinophilic syndromes

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    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  3. Hypereosinophilic Syndrome (HES)

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    ... Inspire Community: Hypereosinophilic Syndrome Reference List Warrell DA, Cox TM, Firth JD, Benz EJ. Oxford Textbook of ... Address: APFED American Partnership for Eosinophilic Disorders PO Box 29545 Atlanta, GA 30359 Phone: Office: 713-493- ...

  4. Hypereosinophilic syndrome mimicking acute coronary syndrome

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    Pulkit Chhabra

    2017-01-01

    Full Text Available Hypereosinophilic syndrome (HES is a heterogeneous group of disorders with peripheral blood hypereosinophilia and eosinophil-mediated organ involvement. It may be primary, secondary, or idiopathic. In very rare cases, HES can be familial occurring as an autosomal dominant disorder. Cardiac involvement usually presents as heart failure, intracardiac thrombus, arrhythmias, and rarely as acute coronary syndrome (ACS and is a major cause of morbidity and mortality. Cardiac magnetic resonance imaging has emerged as a diagnostic modality in diagnosis of eosinophilic endomyocardial disease. We report a case of a young male with familial HES presenting as ACS and discuss diagnostic and therapeutic clinical management.

  5. Gastrointestinal and Hepatic Involvement in Hypereosinophilic Syndrome

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    Inayat, Faisal; Hurairah, Abu

    2016-01-01

    The objective of this investigation was to study the gastrointestinal and hepatic involvement in hypereosinophilic syndrome (HES). Gastrointestinal or hepatic involvement is estimated to affect up to one-third of patients with HES, although most of the clinical evidence has been derived from case reports. In literature, HES presenting with hepatitis and jaundice with subsequent development of colitis is a rare clinicopathologic entity. Given the clinical implications, physicians should includ...

  6. Gastrointestinal and Hepatic Involvement in Hypereosinophilic Syndrome

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    Hurairah, Abu

    2016-01-01

    The objective of this investigation was to study the gastrointestinal and hepatic involvement in hypereosinophilic syndrome (HES). Gastrointestinal or hepatic involvement is estimated to affect up to one-third of patients with HES, although most of the clinical evidence has been derived from case reports. In literature, HES presenting with hepatitis and jaundice with subsequent development of colitis is a rare clinicopathologic entity. Given the clinical implications, physicians should include HES among differentials in these types of presentations. PMID:27733964

  7. Hypereosinophilic syndrome with severe hypokalaemia in a ...

    African Journals Online (AJOL)

    Introduction: Hypereosinophilic syndrome (HES) is a rare disorder.It is defined as eosinophilia of greater than1.5x109 /L persisting for at least 6 months or death before 6 months without an identifiable cause and with eosinophil-mediated organ dysfunction.We present a rare case of hypereosinophilic syndrome with severe ...

  8. Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

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    Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik [Kyungpook Natioanl University College of Medicine, Daegu (Korea, Republic of); Kim, Ok Hwoa [Dongkang general Hospital, Ulsan (Korea, Republic of)

    1993-07-15

    The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections.

  9. [New insights into hypereosinophilic syndromes].

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    Bletry, Olivier; Kahn, Jean-Emmanuel; Ackermann, Felix; Charles, Pierre; Legrand, Fanny

    2010-03-01

    Hypereosinophilic syndrome (HES) is characterized by chronic unexplained eosinophilia with organ involvement. The concept of HES as a single disease entity is being challenged by the recent identification of multiple underlying molecular mechanisms. HES can directly affect the eosinophil lineage (often linked to a fusion gene FIP1L1-PDGFRA, and corresponding in this case to chronic eosinophilic leukemia), or the lymphoid lineage, where eosinophilia is secondary to expansion of a T cell subset overproducing interleukin-5, a cytokine involved in eosinophilopoiesis. These recent discoveries have legitimized the use of tyrosine kinase inhibitors such as imatinib, which, by inhibiting PDGFRA, have transformed the prognosis of chronic eosinophilic leukemia, and also the use of monoclonal anti-IL-5 antibodies, which are promising treatment for steroid-dependent HES.

  10. Wells Syndrome with Multiorgan Involvement Mimicking Hypereosinophilic Syndrome.

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    Carlesimo, M; Fidanza, L; Mari, E; Feliziani, G; Narcisi, A; De Marco, G; Bartolazzi, A; Camplone, G

    2009-09-12

    Eosinophil-associated diseases represent a spectrum of heterogeneous disorders, where blood and cutaneous eosinophilia is the most important feature and eosinophils are the principal cause of cutaneous lesions. These diseases show some similarities in the clinical features but also many distinctive characteristics [Saurat et al., Dermatologia e malattie sessualmente trasmesse, Milano, Masson, 2000]. Wells syndrome is one of these disorders and is an uncommon recurrent inflammatory dermatosis, rarely associated to signs and symptoms of multiple organ involvement [Arch Dermatol 2006;142:1157-1161]. Hypereosinophilic syndrome, in contrast, constitutes a group of idiopathic disorders characterized by blood eosinophilia for at least 6 months, associated with single or multiple organ system dysfunction [Arch Dermatol 2006;142:1157-1161]. Clinically atypical Wells syndrome with multiorgan involvement is reported here. A correct diagnosis is difficult in this case, but clinical and histopathological features are compatible with this diagnosis. The reported condition likely represents a borderline hypereosinophilic disease, in which clinical features of both hypereosinophilic syndrome and Wells syndrome are present.

  11. Current differential diagnosis of hypereosinophilic syndrome

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    Dinić-Uzurov Vera; Lalošević Vesna; Milošević Ivana; Urošević Ivana; Lalošević Dušan; Popović Stevan

    2007-01-01

    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, eos...

  12. Idiopathic hypereosinophilic syndrome associated with rheumatoid arthritis A case report

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    P. Quattrocchi

    2011-09-01

    Full Text Available The idiopathic hypereosinophilic sindrome (HES is a disease characterized by persistent blood eosinophilia (> 1500 eosinophils/mm3 > 6 months-in absence of other ethiologies for eosinophilia (parasitic, allergic, immunological or malignant diseases-associated with multiple organ involvement (heart, lung, central nervous system, skin, bone marrow, gastrointestinal tract. Reports on rheumatologic manifestations in patients with HES are very rare. In the case we report a typical rheumatoid arthritis developed in a 58-year-old woman with HES treated with glucocorticoids. Because of the marked glucocorticoids side effects shown by the patient(cushingoid habitus, hyperglycemia, we stopped this treatment and replaced it at first by methotrexate and later by cyclosporin, both of them associated with sulfasalazine. These drugs revealed very efficacious both on articular pathology and on the clinical and laboratory manifestations of HES. These data suggest that common pathogenetic mechanisms are likely acting in rheumatoid arthritis and idiopathic hypereosinophilic syndrome.

  13. Hypereosinophilic syndrome with hepatic involvement in a young child

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    Jung, Mi Ran; Goo, Hyun Woo; Hong, Seong Sook; Yoon, Chong Hyun [Ulsan University College of Medicine, Seoul (Korea, Republic of)

    2003-09-01

    Hypereosinophilic syndrome, whose etiology in unknown, involves the infiltration of various organs by a large number of eosinophils. The sites of involvement are the heart, skin, lung, liver, nervous system, and gastrointestinal tract. The disorder occurs mostly in middle-aged men and is characterized by striking peripheral eosinophilia. There have been few reports of hypereosinophilic syndrome in patients younger than 15 years and the disease also shows a predilection for males. We report a case of hypereosinophilic syndrome with hepatic involvement in a 17-month-old girl, and correlate the imaging features with the pathologic findings.

  14. A patient with hypereosinophilic syndrome that manifested with acquired hemophilia and elevated IgG4: a case report

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    Nagao Yoshiro

    2012-02-01

    Full Text Available Abstract Introduction Hypereosinophilic syndrome is defined as a prolonged state (more than six months of eosinophilia (greater than 1500 cells/μL, without an apparent etiology and with end-organ damage. Hypereosinophilic syndrome can cause coagulation abnormalities. Among hypereosinophilic syndrome types, the lymphocytic variant (lymphocytic hypereosinophilic syndrome is derived from a monoclonal proliferation of T lymphocytes. Here, we describe the case of a patient with lymphocytic hypereosinophilic syndrome who presented with a coagulation abnormality. To the best of our knowledge, this is the first such report including a detailed clinical picture and temporal cytokine profile. Case presentation A 77-year-old Japanese man presented to our facility with massive hematuria and hypereosinophilia (greater than 2600 cells/μl. His eosinophilia first appeared five years earlier when he developed femoral artery occlusion. He manifested with multiple hematomas and prolonged activated partial thromboplastin time. His IgG4 level was remarkably elevated (greater than 2000 mg/dL. Polymerase chain reaction tests of peripheral blood and bone marrow identified lymphocytic hypereosinophilic syndrome. His prolonged activated partial thromboplastin time was found to be due to acquired hemophilia. Glucocorticoids suppressed both the hypereosinophilia and coagulation abnormality. However, tapering of glucocorticoids led to a relapse of the coagulation abnormality alone, without eosinophilia. Tumor necrosis factor α, interleukin-5, and/or eotaxin-3 may have caused the hypereosinophilia, and interleukin-10 was correlated with the coagulation abnormality. Conclusions To the best of our knowledge, this is the first case in which lymphocytic hypereosinophilic syndrome and IgG4-related disease have overlapped. In addition, our patient is only the second case of hypereosinophilic disease that manifested with acquired hemophilia. Our patient relapsed with the

  15. SUCCESSFUL LONG-TERM CONTROL OF IDIOPATHIC HYPEREOSINOPHILIC SYNDROME WITH ETOPOSIDE

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    SMIT, AJ; VANESSEN, LH; DEVRIES, EGE

    1991-01-01

    A 38-year-old man with idiopathic hypereosinophilic syndrome had an inadequate response to steroids and severe side effects from hydroxyurea treatment, which necessitated withdrawal of the treatment. Successful control of clinical symptoms and eosinophil counts was obtained with etoposide (VP16-213)

  16. Idiopathic hypereosinophilic syndrome associated with multiple intracardiac thrombi.

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    Kocaturk, Hasan; Yilmaz, Mustafa

    2005-09-01

    A 17-year-old man was referred for dyspnea, fatigue, and fever. Idiopathic hypereosinophilic syndrome was diagnosed. Transthoracic echocardiography demonstrated multiple intracardiac thrombi in the left ventricular apex. Dissolution of thrombi was not seen despite intensive medical therapy. The patient died because of cerebral embolus.

  17. [Hypereosinophilic syndrome with first presentation of pulmonary embolism and extensive venous thrombosis: a case report and literature review].

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    Xu, Weihao; Guo, Wenjie; Yang, Tingshu

    2015-12-01

    To study the diagnosis and treatment of hypereosinophilic syndrome complicated with thromboembolism. A retrospective analysis of a patient with hypereosinophilic syndrome diagnosed and treated in the Department of Cardiology, PLA General Hospital was performed. A literature research was performed with "hypereosinophilic syndrome" as the Chinese key word in Wanfang database and China national knowledge internet and "hypereosinophilic syndrome, hypereosinophilia, eosinophilia" as the English key words in PubMed and Embase database. The time interval was from January 1975 to December 2013. The patient was a 31 year old male with a history of bilateral lower limb swelling and a history of chest pain accompanied with blood-stained sputum. Computed tomography pulmonary arteriography (CTPA) on admission showed multiple filling defects at lobular and segmental arteries. CT venography (CTV) and ultrasound examination of the legs demonstrated multiple venous thrombosis. Literature review found 41 articles, including 8 reviews, 29 case reports and 4 other type articles. The clinical manifestations of hypereosinophilic syndrome were varied, and therefore the disease should be managed differently according to different subtypes with glucocorticoids as the main therapy. Effectively reducing the eosinophil count could decrease the incidence of thrombotic complications. Anticoagulant therapy should be used in patients with thrombotic complications. The effectiveness of preventative anticoagulation and duration of anticoagulation are less clear and require further clinical study.

  18. A Case Report of Eosinophilic Esophagitis Accompanying Hypereosinophilic Syndrome

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    Mahreema Jawairia

    2012-01-01

    Full Text Available Hypereosinophilic syndrome is a blood disorder characterized by the overproduction of eosinophils in the bone marrow with persistent peripheral eosinophilia, associated with organ damage by the release of eosinophilic mediators. Although HES can involve multiple organ systems, GI tract involvement is very rare. Few cases of HES presenting with gastritis or enteritis have been reported worldwide. To date, HES presenting with esophagus involvement has only been reported once. Here, we present a 39-year-old Hispanic female patient with history of HES presenting with complaints of dysphagia and generalized pruritus.

  19. Circulating Charcot-Leyden crystals in the hypereosinophilic syndrome.

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    Dincsoy, H P; Burton, T J; van der Bel-Kahn, J M

    1981-02-01

    A patient who had malignant melanoma associated with the hypereosinophilic syndrome died of cardiovascular thrombotic lesions. Widespread tissue eosinophilia was accompanied by numerous Charcot-Leyden crystals in the tumor as well as in various organs, including the renal tubules. A unique observation, not previously described, is the finding of Charcot-Leyden crystals in the thrombi and vessels, including the renal glomeruli. While little is known of the significance of Charcot-Leyden crystals, it is speculated that the circulating crystals injure the endothelium and trigger intravascular coagulation, resulting in thrombosis. A search for the crystals in blood and/or urine may be of additional aid in the evaluation of the extent of the thrombotic process. A special staining method is proposed to facilitate recognition of the crystals, since these are virtually not visualized by routine stain. With the use of such a staining method, future observations in other cases of the hypereosinophilic syndrome may elucidate the role of Charcot-Leyden crystals in the pathogenesis of the thrombotic cardiovascular lesions of this syndrome.

  20. Hypereosinophilic Syndrome: A Case of Fatal Löffler Endocarditis

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    Mario Enrique Baltazares-Lipp

    2016-01-01

    Full Text Available Hypereosinophilic syndrome (HES is a rare disorder with unknown global prevalence, barely reported in Hispanic population, and characterized by persistent eosinophilia in association with organ dysfunctions directly attributable to eosinophilic infiltration. Cardiac involvement may be present in 50 to 60% of the patients. This is known as Löffler endocarditis. We present a case of a 36-year-old Hispanic man with signs of heart failure. Laboratory studies showed eosinophilia (23,100/μL. Thoracic computer tomography showed bilateral pleural effusion and a large left ventricular mass. Transthoracic echocardiography showed left ventricle apical obliteration and a restrictive pattern. Pulmonary angiography demonstrated a thrombus in the lingular and middle lobe. Despite treatment, the patient deceased seven days after admission. Autopsy confirmed the diagnosis of Löffler endocarditis.

  1. [Hypereosinophilic syndromes: pathogenic and therapeutic up-to-date].

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    Kahn, J-E; Grandpeix-Guyodo, C; Ackermann, F; Charles, P; Legrand, F; Blétry, O

    2010-04-01

    The hypereosinophilic syndromes (HES), defined by an unexplained and sustained hypereosinophilia, can be associated with heterogeneous hematological conditions. Several molecular mechanisms underlying the eosinophilia, which remained indeterminate for a long time, have been recently identified. These recent advances allowed a better classification of the various forms of HES and the development of targeted therapies. The role of tyrosine kinases, especially PDGFRA, and the efficacy of tyrosine kinases inhibitors dramatically improved the diagnosis and the treatment of myeloproliferative variant of HES. On the other side, eosinophilia can be driven by IL-5 secreting abnormal and often clonal T cell subsets (lymphocytic variant of HES). The crucial role of this cytokine in eosinophil development, activation and survival leads to the assessment of anti-IL-5 monoclonal antibodies which have recently shown to provide a significant corticosteroid sparing effect in FIP1L1-PDGFRA negative HES patients. Despite these major advances, half of HES remains unexplained (idiopathic HES). Some FIPL1-PDGFRA negative patients respond to imatinib, suggesting the role of other tyrosine kinases (or other partners than FIP1L1 in a fusion gene implicating PDGFRA). Development of new biomarkers is needed to help physicians in the diagnosis, classification of HES and in the choice of a targeted therapy. Copyright 2010 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  2. Salvage therapy of imatinib-resistant hypereosinophilic syndrome with PDGFRB rearrangement

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    Miao-Erh Chang

    2016-03-01

    Full Text Available Hypereosinophilic syndrome (HES has generally been defined as a peripheral blood eosinophil count greater than 1500/mm3 and may be associated with tissue damage. Imatinib is customarily used as the first-line therapy for HES with gene abnormalities, such as PDGFRA or PDGFRB. We presented a case where the patient was diagnosed with HES, with PDGFRB rearrangement. The patient began an imatinib regimen after diagnosis and then developed resistance to imatinib. The combination of dasatinib, methylprednisolone and hydroxyurea was administered to the patient as the salvage therapy.

  3. Urinary Charcot-Leyden crystals in the hypereosinophilic syndrome with acute renal failure.

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    Hirszel, P; Cashell, A W; Whelan, T V; Dolan, R; Yoshihashi, A

    1988-10-01

    A 48-year-old man with idiopathic hypereosinophilic syndrome (IHS) developed blast crisis along with a fulminant autoimmune hemolytic anemia. Hemoglobinuria and anuric acute renal failure (ARF) ensued. Urinalysis revealed countless Charcot-Leyden crysals (CLC). This is the only known report of Charcot-Leyden crystalluria. The CLC protein (lysophospholipase) should normally undergo glomerular filtration and catabolism by the tubules during reabsorption. Its abundant presence in the urine of our patient may reflect impairment of tubular reabsorption, saturation of the tubular reabsorptive process by excessive CLC load through residual functioning glomeruli, or a combination thereof. The extreme degree of hypereosinophilia suggests a massive load of CLC protein and acute tubular necrosis implies impaired tubular function, so both mechanisms should have been operative. At the autopsy, no eosinophilic infiltrates were present in the kidneys, which points against a local spillage of CLC protein into the tubules.

  4. Whole-exome sequencing and genome-wide methylation analyses identify novel disease associated mutations and methylation patterns in idiopathic hypereosinophilic syndrome

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    Andersen, Christen Lykkegaard; Nielsen, Helene Myrtue; Sommer Kristensen, Lasse

    2015-01-01

    A thorough understanding of the idiopathic hypereosinophilic syndrome (IHES) and further optimization of diagnostic work-up procedures are warranted. We analyzed purified eosinophils from patients with IHES by next-generation whole-exome sequencing and compared DNA methylation profiles from react...... or hypermethylated tumor suppressor genes. In addition, we identified a DNA methylation signature that is relevant for distinguishing clonal and suspected clonal eosinophilia from reactive eosinophilia per se, which may be useful in daily clinical work.......A thorough understanding of the idiopathic hypereosinophilic syndrome (IHES) and further optimization of diagnostic work-up procedures are warranted. We analyzed purified eosinophils from patients with IHES by next-generation whole-exome sequencing and compared DNA methylation profiles from...... reactive eosinophilic conditions to known clonal and suspected clonal eosinophilia. Somatic missense mutations in cancer-related genes were detected in three IHES patients. These included the spliceosome gene PUF60 and the cadherin gene CDH17. Furthermore, reactive eosinophilia samples could...

  5. Atypical Presentation of Intracardiac Floating Thrombi in Hypereosinophilic Syndrome Complicated With Stroke and Systemic Embolization: A Case Report.

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    Lai, Chih-Hung; Chang, Szu-Ling; Lin, Wei-Wen; Hsiung, Ming-Chon; Juan, Yu-Hsiang; Wang, Tzu-Lin

    2015-10-01

    Hypereosinophilic syndrome (HES) describes a disorder characterized by persistent peripheral blood eosinophilia with evidence of multiple target organs damage caused by eosinophilia. HES most commonly involves the heart, and cardiac involvement typically presents in the form of endomyocarditis or myocarditis with apical mural thrombus formation.We present a case with atypical cardiac presentation with massive intracardiac fragile thrombi, causing peripheral emboli and strokes.HES can present as floating thrombi with thin attachment to the left ventricle, and clinicians should also be vigilant of thromboembolic complications and initiate early therapy to prevent or reduce the potential complications of HES.

  6. The lymphoid variant of hypereosinophilic syndrome: study of 21 patients with CD3-CD4+ aberrant T-cell phenotype.

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    Lefèvre, Guillaume; Copin, Marie-Christine; Staumont-Sallé, Delphine; Avenel-Audran, Martine; Aubert, Hélène; Taieb, Alain; Salles, Gilles; Maisonneuve, Hervé; Ghomari, Kamel; Ackerman, Félix; Legrand, Fanny; Baruchel, André; Launay, David; Terriou, Louis; Leclech, Christian; Khouatra, Chahera; Morati-Hafsaoui, Chafika; Labalette, Myriam; Borie, Raphäel; Cotton, François; Gouellec, Noémie Le; Morschhauser, Franck; Trauet, Jacques; Roche-Lestienne, Catherine; Capron, Monique; Hatron, Pierre-Yves; Prin, Lionel; Kahn, Jean-Emmanuel

    2014-10-01

    The CD3-CD4+ aberrant T-cell phenotype is the most described in the lymphoid variant of hypereosinophilic syndrome (L-HES), a rare form of HES. Only a few cases have been reported, and data for these patients are scarce. To describe characteristics and outcome of CD3-CD4+ L-HES patients, we conducted a national multicentric retrospective study in the French Eosinophil Network. All patients who met the recent criteria of hypereosinophilia (HE) or HES and who had a persistent CD3-CD4+ T-cell subset on blood T-cell phenotyping were included. Clinical and laboratory data were retrospectively collected by chart review. CD3-CD4+ L-HES was diagnosed in 21 patients (13 females, median age 42 years [range, 5-75 yr]). Half (48%) had a history of atopic manifestations. Clinical manifestations were dermatologic (81%), superficial adenopathy (62%), rheumatologic (29%), gastrointestinal (24%), pulmonary (19%), neurologic (10%), and cardiovascular (5%). The median absolute CD3-CD4+ T-cell count was 0.35 G/L (range, 0.01-28.3), with a clonal TCRγδ rearrangement in 76% of patients. The mean follow-up duration after HES diagnosis was 6.9 ± 5.1 years. All patients treated with oral corticosteroids (CS) (n = 18) obtained remission, but 16 required CS-sparing treatments. One patient had a T-cell lymphoma 8 years after diagnosis, and 3 deaths occurred during follow-up.In conclusion, clinical manifestations related to CD3-CD4+ T cell-associated L-HES are not limited to skin, and can involve all tissue or organs affected in other types of HE. Contrary to FIP1L1-PDGFRA chronic eosinophilic leukemia patients, CS are always effective in these patients, but CS-sparing treatments are frequently needed. The occurrence of T-cell lymphoma, although rare in our cohort, remains a major concern during follow-up.

  7. Eosinophilic Cystitis Presented as a Manifestation of Hypereosinophilic Syndrome: A Case Report and Review of the Literature

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    Katsuaki Kojima

    2013-02-01

    Full Text Available Background: Hypereosinophilic syndrome (HES is a group of disorders marked by the sustained overproduction of eosinophils, in which eosinophilic infiltration and inflammatory substance release cause damage to multiple organs. Eosinophilic cystitis (EC is an inflammatory disorder caused by eosinophilic infiltration of the bladder wall. Although EC is often associated with eosinophilia, it has been rarely reported as a manifestation of HES. We report a case of EC as a primary manifestation of HES. The patient was a 27-year-old male with a history of complete intracardiac repair of tetralogy of Fallot who presented with an acute onset of dysuria accompanied by eosinophilia (7.5 × 103/µl, 60% of white blood cells. Ultrasonography and MRI of the bladder showed a bladder mass, a biopsy of which revealed eosinophilic infiltration and degranulation. Methods: We performed a literature search in PubMed from 2001 to 2012 to find patients with EC who may have had HES. Results: There were 4 patients with HES who had EC including the present case. Of 14 patients reported as EC in whom the eosinophil count was described, 5 had eosinophils of ≥1,500/µl. None of the 5 patients had secondary causes for eosinophilia. Of the 9 patients with definite or probable HES, 7 patients (78% were male and 5 patients (56% showed a concomitant eosinophilic gastrointestinal disorder. Conclusion: HES may not be uncommon as the cause of EC. Thorough evaluation and close monitoring are warranted in EC patients with elevated eosinophils.

  8. CD3−CD4+ lymphoid variant of hypereosinophilic syndrome: nodal and extranodal histopathological and immunophenotypic features of a peripheral indolent clonal T-cell lymphoproliferative disorder

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    Lefèvre, Guillaume; Copin, Marie-Christine; Roumier, Christophe; Aubert, Hélène; Avenel-Audran, Martine; Grardel, Nathalie; Poulain, Stéphanie; Staumont-Sallé, Delphine; Seneschal, Julien; Salles, Gilles; Ghomari, Kamel; Terriou, Louis; Leclech, Christian; Morati-Hafsaoui, Chafika; Morschhauser, Franck; Lambotte, Olivier; Ackerman, Félix; Trauet, Jacques; Geffroy, Sandrine; Dumezy, Florent; Capron, Monique; Roche-Lestienne, Catherine; Taieb, Alain; Hatron, Pierre-Yves; Dubucquoi, Sylvain; Hachulla, Eric; Prin, Lionel; Labalette, Myriam; Launay, David; Preudhomme, Claude; Kahn, Jean-Emmanuel

    2015-01-01

    The CD3−CD4+ lymphoid variant of hypereosinophilic syndrome is characterized by hypereosinophilia and clonal circulating CD3−CD4+ T cells. Peripheral T-cell lymphoma has been described during this disease course, and we observed in our cohort of 23 patients 2 cases of angio-immunoblastic T-cell lymphoma. We focus here on histopathological (n=12 patients) and immunophenotypic (n=15) characteristics of CD3−CD4+ lymphoid variant of hypereosinophilic syndrome. Atypical CD4+ T cells lymphoid infiltrates were found in 10 of 12 CD3−CD4+ L-HES patients, in lymph nodes (n=4 of 4 patients), in skin (n=9 of 9) and other extra-nodal tissues (gut, lacrymal gland, synovium). Lymph nodes displayed infiltrates limited to the interfollicular areas or even an effacement of nodal architecture, associated with proliferation of arborizing high endothelial venules and increased follicular dendritic cell meshwork. Analysis of 2 fresh skin samples confirmed the presence of CD3−CD4+ T cells. Clonal T cells were detected in at least one tissue in 8 patients, including lymph nodes (n=4 of 4): the same clonal T cells were detected in blood and in at least one biopsy, with a maximum delay of 23 years between samples. In the majority of cases, circulating CD3−CD4+ T cells were CD2hi (n=9 of 14), CD5hi (n=12 of 14), and CD7−(n=4 of 14) or CD7low (n=10 of 14). Angio-immunoblastic T-cell lymphoma can also present with CD3−CD4+ T cells; despite other common histopathological and immunophenotypic features, CD10 expression and follicular helper T-cell markers were not detected in lymphoid variant of hypereosinophilic syndrome patients, except in both patients who developed angio-immunoblastic T-cell lymphoma, and only at T-cell lymphoma diagnosis. Taken together, persistence of tissular clonal T cells and histopathological features define CD3−CD4+ lymphoid variant of hypereosinophilic syndrome as a peripheral indolent clonal T-cell lymphoproliferative disorder, which should not be

  9. CD3-CD4+ lymphoid variant of hypereosinophilic syndrome: nodal and extranodal histopathological and immunophenotypic features of a peripheral indolent clonal T-cell lymphoproliferative disorder.

    Science.gov (United States)

    Lefèvre, Guillaume; Copin, Marie-Christine; Roumier, Christophe; Aubert, Hélène; Avenel-Audran, Martine; Grardel, Nathalie; Poulain, Stéphanie; Staumont-Sallé, Delphine; Seneschal, Julien; Salles, Gilles; Ghomari, Kamel; Terriou, Louis; Leclech, Christian; Morati-Hafsaoui, Chafika; Morschhauser, Franck; Lambotte, Olivier; Ackerman, Félix; Trauet, Jacques; Geffroy, Sandrine; Dumezy, Florent; Capron, Monique; Roche-Lestienne, Catherine; Taieb, Alain; Hatron, Pierre-Yves; Dubucquoi, Sylvain; Hachulla, Eric; Prin, Lionel; Labalette, Myriam; Launay, David; Preudhomme, Claude; Kahn, Jean-Emmanuel

    2015-08-01

    The CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome is characterized by hypereosinophilia and clonal circulating CD3(-)CD4(+) T cells. Peripheral T-cell lymphoma has been described during this disease course, and we observed in our cohort of 23 patients 2 cases of angio-immunoblastic T-cell lymphoma. We focus here on histopathological (n=12 patients) and immunophenotypic (n=15) characteristics of CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome. Atypical CD4(+) T cells lymphoid infiltrates were found in 10 of 12 CD3(-)CD4(+) L-HES patients, in lymph nodes (n=4 of 4 patients), in skin (n=9 of 9) and other extra-nodal tissues (gut, lacrymal gland, synovium). Lymph nodes displayed infiltrates limited to the interfollicular areas or even an effacement of nodal architecture, associated with proliferation of arborizing high endothelial venules and increased follicular dendritic cell meshwork. Analysis of 2 fresh skin samples confirmed the presence of CD3(-)CD4(+) T cells. Clonal T cells were detected in at least one tissue in 8 patients, including lymph nodes (n=4 of 4): the same clonal T cells were detected in blood and in at least one biopsy, with a maximum delay of 23 years between samples. In the majority of cases, circulating CD3(-)CD4(+) T cells were CD2(hi) (n=9 of 14), CD5(hi) (n=12 of 14), and CD7(-)(n=4 of 14) or CD7(low) (n=10 of 14). Angio-immunoblastic T-cell lymphoma can also present with CD3(-)CD4(+) T cells; despite other common histopathological and immunophenotypic features, CD10 expression and follicular helper T-cell markers were not detected in lymphoid variant of hypereosinophilic syndrome patients, except in both patients who developed angio-immunoblastic T-cell lymphoma, and only at T-cell lymphoma diagnosis. Taken together, persistence of tissular clonal T cells and histopathological features define CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome as a peripheral indolent clonal T-cell lymphoproliferative

  10. Synchronous malignant B-cell lymphoma and gastric tubular adenocarcinoma associated with paraneoplastic cutaneous vasculitis: hypereosinophilic syndrome with mixed cryoglobulinemia is an important sign of paraneoplastic syndrome

    Directory of Open Access Journals (Sweden)

    Kenji Takamori

    2009-12-01

    Full Text Available Gastric adenocarcinoma developing concomitantly with a lymphoma is rare. Furthermore, B-cell lymphoma, originating from lymph nodes, with eosinophilia is extremely rare. We report here a case with a synchronous diffuse large B-cell lymphoma (DLBCL and an early adenocarcinoma of the stomach. In addition, this case seemed to be associated with paraneoplastic cutaneous vasculitis caused by hypereosinophilic syndrome (HES with mixed cryoglobulinemia (MC. Many neoplastic diseases that affect internal organs display cutaneous manifestations, which may be the presenting signs and symptoms of the underlying malignancy. In particular, the association between cutaneous vasculitis and malignancy has been widely reviewed, and recently neoplasms have been suggested to produce antigens and the resultant immune complex formations, activating the serum complement, thus cause paraneoplastic vasculitis. In this case, severe eosinophilia and cryoglobulinemia with low complements were observed in a laboratory test. A biopsy specimen from a skin lesion revealed leukocytoclastic vasculitis with severe perivascular infiltration of eosinophils. The cutaneous vasuculitis was considered to be a manifestation of HES with MC, although there were no etiological factors of HES and MC. Therefore, the vasculitis seems to be a symptom of paraneoplastic syndrome in this case. Our finding suggests that the potential presence of malignancies should be kept in mind as a possible underlying disorder especially in the presence of HES with MC; this possibility is interesting also as regards at least part of the pathogenesis for paraneplastic syndrome.

  11. (A Critical Appraisal of Classification of Hypereosinophilic Disorders

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    Jean Emmanuel Kahn

    2017-12-01

    Full Text Available Hypereosinophilia (HE is a heterogeneous condition that can be reported in various (namely inflammatory, allergic, infectious, or neoplastic diseases with distinct pathophysiological pathways. In 1975, Chusid et al. published the first diagnostic criteria of hypereosinophilic syndromes (HES. Over the years, as both basic and clinical knowledge improved, several updates have been suggested, with a focus on better distinguishing isolated or asymptomatic eosinophilia from diseases with specific eosinophil-related organ damage. Moreover, underlying molecular and cellular mechanisms of eosinophilia gradually became the cornerstone of successive attempts to classify HE-related diseases. In 2011, the International Cooperative Working Group on Eosinophil Disorders criteria emerged from a multidisciplinary Working Conference on Eosinophil Disorders and Syndromes, and provided substantial contribution to the clarification of general concepts and definitions in the field of HE. Yet, owing to the low prevalence of HE/HES, to the numerous diseases encompassed in the spectrum of HE-related disorders (with sometimes overlapping phenotypes, many questions are left unanswered (e.g., the need to better standardize the use of modern molecular tools, or the clinical relevance of distinguishing different subtypes of idiopathic HES. Here, we review the current state of knowledge in the fields of classification and diagnosis criteria of HE-related diseases, with emphasis on the analysis of both strengths and weaknesses of present concepts and their usefulness in daily practice.

  12. Eosinofilia reacional, leucemia eosinofílica crônica e síndrome hipereosinofílica idiopática Reactive eosinophilia, chronic eosinophilic leukemia and idiopathic hypereosinophilic syndrome

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes Lopes Ferrari Chauffaille

    2010-01-01

    Full Text Available A eosinofilia é freqüente na prática clínica, principalmente quando os valores estão entre 500 e 1000 eosinófilos/uL e indica a presença de doença parasitária, alérgica ou reação a medicamentos. Afora essas situações, a eosinofilia pode ser devida a doenças do tecido conjuntivo, infecções e, mais raramente, a doença hematológica maligna ou a tumores sólidos. Os critérios estabelecidos na década de 70 para a definição para a definição da síndrome hipereosinofílica idiopática se tornaram insuficientes para caracterizar todas as entidades albergadas sob o termo eosinofilia e, hoje, melhor compreendidas graças aos avanços na biologia celular e molecular, que proporcionaram a caracterização de doenças distintas e que envolvem células das linhagens mieloide e linfoide. Nesse contexto, as eosinofilias sanguíneas são categorizadas como reacionais, clonais e idiopáticas (SHE. O advento de terapia antitirosinoquinase (a exemplo do mesilato de imatinibe, eficaz para os casos com o rearranjo gênico FIP1L1/PDGFR, também abriu novas perspectivas para o controle ideal da leucemia eosinofílica crônica. Daí a importância do diagnóstico preciso e rápido para a indicação terapêutica ideal, antes que se instalem as complicações orgânicas, em especial cardíacas, que são irreversíveis. O presente manuscrito objetiva rever as situações de eosinofilia sanguínea e oferecer uma atualização da investigação diagnóstica e terapêutica.Mild eosinophilia with values of less than 1000 eosinophils/µL is commonly seen in the clinical practice and can be secondary to parasitic, inflammatory or allergic diseases or to drug reactions. Additionally, eosinophilia may be due to connective tissue disorders, infections and occasionally to hematopoietic malignancies or solid tumors. The criteria established in the 1970s, for the definition of idiopathic hypereosinophilic syndrome is today unsatisfactory to characterize all

  13. Neuropatia periférica e miosite na síndrome hipereosinofílica idiopática: relato de caso Peripheral neuropathy and myositis in idiopathic hypereosinophilic syndrome: case report

    Directory of Open Access Journals (Sweden)

    Rosana Herminia Scola

    2004-03-01

    Full Text Available Descrevemos um caso de síndrome hipereosinofílica idiopática, com manifestações clínicas de neuropatia periférica e sinais de miosite inflamatória. Trata-se de mulher de 20 anos de idade, que apresentou dificuldade progressiva para caminhar com quedas freqüentes e edema de membros inferiores até o nível do joelho, associado a parestesias e cãibras. O exame neurológico revelou hipotonia, arreflexia e redução da força e sensibilidade nos membros inferiores. O exame parasitológico de fezes foi negativo e o hemograma mostrou 24 % de eosinófilos (1848/mm³. Estudo eletrodiagnóstico mostrou comprometimento axonal sensitivo-motor nos nervos dos membros inferiores. A biópsia muscular mostrou discreta reação inflamatória perivascular e intersticial. Tratada com prednisona a paciente apresentou remissão dos sintomas em dois meses.We describe a case of idiopathic hypereosinophilic syndrome manifested by an axonal sensoriomotor polyneuropathy (ASMP and signals of myositis. A 20 years old woman began with progressive gait impairment with drops and presented with subacute lower limb edema associated with paresthesis and cramps. She showed hypotonia in the lower limbs, absence of knee and ankle jerks, steppage gait, and decreased sensation on both legs. Examinations of stools were negative. Blood examination showed 7700 leukocytes with 24% (1848/mm³ eosinophils. Electrodiagnostic studies showed axonal lesion in sensory and motor nerves. Muscle biopsy showed type 2 muscle fibers atrophy with discrete inflammatory cells, predominantly lymphocytic in perivascular and interstitial locations. She was treated with prednisone and all the symptoms subsided after two months.

  14. When a death apparently associated to sexual assault is instead a natural death due to idiopathic hypereosinophilic syndrome: The importance of gamma-hydroxybutyric acid analysis in vitreous humor.

    Science.gov (United States)

    Busardò, Francesco Paolo; Portelli, Francesca; Montana, Angelo; Rotolo, Maria Concetta; Pichini, Simona; Maresi, Emiliano

    2017-05-01

    We here report a case involving a 21-year-old female, found dead in a central square of a city in the south of Italy. Initial evidences and circumstances were suggestive of a death associated with a sexual assault. Two peripheral blood and two vitreous humor samples were collected for the purpose of gamma-hydroxybutyric acid (GHB) testing from the dead body at two different post-mortem intervals (PMIs): approximately 2 (t0) and 36 (t1) hours. The obtained results showed that, between t0 and t1, there was an increase of GHB concentrations in peripheral blood and vitreous humor of 66.3% and 8.1%, respectively. This case was the first evidence of GHB post mortem production in a dead body and not in vitro, showing that vitreous humor is less affected than peripheral blood in GHB post-mortem production. The value detected at t1 in peripheral blood (53.4µg/mL) exceeded the proposed cut-off and if interpreted alone would have led to erroneous conclusions. This was not the case of vitreous humor GHB, whose post-mortem increase was minimal and it allowed to exclude a GHB exposure. Only after a broad forensic investigation including a complete autopsy, serological, histological, toxicological and haematology analyses, a diagnosis of idiopathic hypereosinophilic syndrome, a myeloproliferative disorder characterized by persistent eosinophilia associated with damage to multiple organs, was made and the cause of death was due to a pulmonary eosinophilic vasculitis responsible for an acute respiratory failure. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Horner syndrome: clinical perspectives

    Science.gov (United States)

    Kanagalingam, Sivashakthi; Miller, Neil R

    2015-01-01

    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  16. Clinical update on metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Juan Diego Hernández-Camacho

    2017-12-01

    Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

  17. SAPHO syndrome: the clinical case

    Directory of Open Access Journals (Sweden)

    T. P. Makarova

    2017-01-01

    Full Text Available Syndrome Sapho is a combination of hyperostosis of the sternoclavicular joint with pustulosis of the palms and/or plants, pustular/vulgar psoriasis, or deep acne, which also celebrates spinal cord injury, osteitis and arthritis, including sacroiliitis. As trigger factors, the role of infections, such as Staphylococcus epidermidis, streptococci and viruses, is considered. They are associated with autoimmune post- or parainfectious pathogenesis of the SAPHO syndrome. As with the other seronegative spondyloarthritis important for the pathogenesis of SAPHO syndrome is a factor in hypothermia. Presents a clinical case of the syndrome of Sappho from the group of seronegative spondyloarthritis. Features of the course, the complexity of diagnosis in a particular patient and the possibility of targeted therapy with genetically engineered drugs, are shown.

  18. [Moebius syndrome. Clinical case report].

    Science.gov (United States)

    Palmer-Morales, Yusvisaret; Zárate-Márquez, Rosario Elena; Prince-Vélez, Roberto; González-Méndez, Roberto; Zamarripa-Sandoval, Thania Ayerim; Verdugo-Salazar, Nahim; Torres-Félix, Victor Gabriel; Salcido-Daniel, Remigio; Valdez-Hernández, Pedro; Morfín-Vela, Andrés

    2013-01-01

    Moebius syndrome (MBS) is an infrequent disease, having an incidence of 1 in 10,000 births, mainly characterized by a congenital bilateral facial paralysis due to an agenesia of the sixth and seventh cranial nerves. In addition, orofacial and limb anomalies are frequently found in these patients. The diagnosis is fundamentally based on different clinical manifestations of the disorder. a female newborn with the clinical picture of Moebius syndrome is presented, and genetic or environmental aspects are discussed. Since the use of misoprostol for abortion and inducing uterine activity in combination with NSAIDs, the number of newborns with MBS associated with this drug has increased. Nowadays, either genetic or environmental factors are associated with MBS. it is necessary that the general and medical community be aware of the risk of teratogenic effects of misoprostol, and the usefulness of genetic counseling whenever there is a newborn with Moebius syndrome.

  19. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

    Directory of Open Access Journals (Sweden)

    Tullu M

    2000-04-01

    Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

  20. Clinical characteristics of Caroli's syndrome.

    Science.gov (United States)

    Yonem, Ozlem; Bayraktar, Yusuf

    2007-04-07

    Caroli's syndrome is characterized by multiple segmental cystic or saccular dilatations of intrahepatic bile ducts associated with congenital hepatic fibrosis. The clinical features of this syndrome reflect both the characteristics of congenital hepatic fibrosis such as portal hypertension and that of Caroli's disease named as recurrent cholangitis and cholelithiasis. The diagnosis depends on both histology and imaging methods which can show the communication between the sacculi and the bile ducts. Treatment consists of symptomatic treatment of cholangitis attacks by antibiotics, some endoscopic, radiological and surgical drainage procedures and surgery. Liver transplantation seems the ultimate treatment for this disease. Prognosis is fairly good unless recurrent cholangitis and renal failure develops.

  1. Eosinophilic cardiac disease: Molecular, clinical and imaging aspects.

    Science.gov (United States)

    Séguéla, Pierre-Emmanuel; Iriart, Xavier; Acar, Philippe; Montaudon, Michel; Roudaut, Raymond; Thambo, Jean-Benoit

    2015-04-01

    Eosinophilia may be responsible for cardiac injuries of widely varying severity, from acute myocarditis to endomyocardial fibrosis. In this review, we present both the molecular mechanisms that are responsible for these lesions and their clinical and paraclinical aspects. Numerous aetiologies can lead to severe eosinophilia, but these are mainly represented by hypersensitivity reactions, rheumatological diseases and hypereosinophilic syndrome. Because cardiac involvement may be extremely severe, echocardiography should be always performed in the context of eosinophilia and appropriate therapeutics should be started rapidly in order to limit the progression of the disease. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  2. Leishmaniasis: clinical syndromes and treatment.

    Science.gov (United States)

    McGwire, B S; Satoskar, A R

    2014-01-01

    Leishmaniasis is a global term for cutaneous and visceral anthroponotic and zoonotic diseases caused by the vector-borne parasites of the genus Leishmania. These diseases afflict at least 2 million people each year with more than 350 million at risk in 98 countries worldwide. These are diseases mostly of the impoverished making prevention, diagnosis and treatment difficult. Therapy of leishmaniasis ranges from local treatment of cutaneous lesions to systemic, often toxic, therapy for disseminated cutaneous, mucocutaneous and deadly visceral disease. This review is a summary of the clinical syndromes caused by Leishmania and treatment regimens currently used for various forms of leishmaniasis.

  3. Clinical pharmacology of old age syndromes

    OpenAIRE

    Broadhurst, C; Wilson, K C M; Kinirons, M T; Wagg, A; Dhesi, J K

    2003-01-01

    Several syndromes occur in old age. They are often associated with increased mortality and in all there is a paucity of basic and clinical research. The recent developments in the clinical pharmacology of three common syndromes of old age (delirium, urinary incontinence, and falls) are discussed along with directions for future research.

  4. Klinefelter syndrome--a clinical update

    DEFF Research Database (Denmark)

    Groth, Kristian A; Skakkebæk, Anne; Høst, Christian

    2013-01-01

    Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.......Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries....

  5. Asperger syndrome, violent thoughts and clinically isolated syndrome.

    Science.gov (United States)

    Vanderbruggen, N; Van Geit, N; Bissay, V; Zeeuws, D; Santermans, L; Baeken, C

    2010-12-01

    A young man, 23 years old, with a clinically isolated syndrome (CIS), presented violent thoughts during a neurological consultation. He was diagnosed with Asperger Syndrome based on a psychiatric and (neuro)psychological examination. Possible risk factors for acting-out and the implications for treatment, if CIS would evolve to MS, are discussed based on a review of the literature.

  6. Serotonin Syndrome: Clinical Findings, Diagnosis, Management

    Directory of Open Access Journals (Sweden)

    Pedro Cintra

    2014-06-01

    Full Text Available The serotonin syndrome is a relatively infrequent clinical entity, but can have potentially lethal consequences. The spectrum of manifestations is highly variable, ranging from mild diarrhea to tremor and mental status changes, autonomic hyperactivity, hyperthermia and clonic contractions. Eighty-five percent of physicians are not familiar with the characteristics of the syndrome. We propose to briefly review its epidemiology, pathophysiology, clinical manifestations, diagnostic criteria and therapeutic, emphasizing practical aspects of clinical performance.

  7. Burning mouth syndrome: Clinical dilemma?

    Directory of Open Access Journals (Sweden)

    Kanchan R Patil

    2008-01-01

    Full Text Available Burning Mouth Syndrome (BMS is a chronic orofacial burning pain condition usually in the absence of clinical and laboratory findings that affects many adults worldwide, yet its etiology and treatment remain poorly understood. Though it has been associated with numerous oral and systemic conditions, there has been no clear consensus on its etiology, pathogenesis and treatment. As a result, patients with inexplicable oral complaints are often referred from one health care professional to another without effective management having significant emotional impact on patients. As the dental profession expands its scope of care to oral medicine and geriatrics, BMS will be more effectively diagnosed and managed by these dental surgeons. Hence, they should be more involved in evaluation and management of these patients. The present article provides updated information on BMS including possible etiological factors and current treatment options, although data on the effectiveness of these treatment modalities remain limited. Recently researchers found that treatment with a familiar nutritional supplement- lipoic acid- is of remarkable benefit with minimal adverse effects. ALA (alpha-lipoic acid may be the effective treatment modality in management of BMS.

  8. Clinical management of hereditary colorectal cancer syndromes.

    Science.gov (United States)

    Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

    2015-02-01

    Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.

  9. [Clinical analysis of Sweet syndrome with myelodysplasia syndrome].

    Science.gov (United States)

    Wang, Y N; Zhuang, J L; Zhao, W L; Fang, K; Liu, Y H; Jin, H Z; Li, L

    2016-06-14

    To study the clinical, histopathological and therapeutic features of Sweet syndrome with myelodysplastic syndrome (MDS). The clinical data of 3 patients with Sweet syndrome and MDS diagnosed at Peking Union Medical College Hospital between October 1988 and November 2015 were reviewed. The laboratory test results, histopathological findings, and therapeutic regimens of these patients were analyzed retrospectively. The three cases were 29, 49 and 49 years old, respectively, including 2 females and 1 male. Two patients presented with Sweet syndrome before the onset of MDS, the other one patient developed Sweet syndrome and MDS simultaneously. The rash of all of these patients manifested as red painful papules in face, trunk and limbs, as well as edematous plaques and nodules. Histopathological examination of skin confirmed the diagnosis of Sweet syndrome. Complete blood count showed cytopenia of at least one lineage. Bone marrow cytology showed dysplasia of hematopoietic cells with abnormal high proportion of myeloblasts. Bone marrow pathology results were normal in 2 patients, while hypoplasia of hematopoietic tissue with excess adipose tissue was found in 1 patient. All the patients were treated with corticosteroid or immunosuppressants and skin lesions alleviated. But relapse was common in process of corticosteroid reduction. Sweet syndrome may be a precursor of MDS. The clinical manifestations, histopathological and hematological findings of these rare cases are characteristic. Corticosteroid indicates short-term response. The patients who had recurrent skin lesions should be further examined to exclude MDS.

  10. Cardiorenal Syndrome: Clinical Outcome Study.

    Science.gov (United States)

    Shah, H R; Singh, N P; Aggarwal, N P; Singhania, D; Kumar, A

    2016-12-01

    Over recent years, the field of medicine has been challenged by the twin epidemic of heart failure and renal insufficiency. The coexistence of the two problems in the same patient, referred to as cardiorenal syndrome (CRS), is defined as 'disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other. The mechanisms underlying this interaction are complex and multifactorial in nature. Identify and classify patients admitted with cardiorenal syndrome into various subtypes and assess clinical outcome at discharge and at three months. Ours was a longitudinal study of 50 patients admitted in ICU with CRS. They were classified as per RONCO classification (2008) into various subtypes. Outcomes was addressed as favourable for patients stable at discharge and at 3 months follow up, whereas outcome was termed non-favourable for patients who expired or initiated on hemodialysis. Of 50 patients, two-third patients were males (66%), with mean age of males and females being 64.18 years and 64.64 years respectively. Majority of the patients had Type-1 CRS (46%) followed by twenty two percent Type-2, twenty six percent type-4 and six percent Type-5. There were no patients with type-3 CRS. At the end of the study, 24 (48%) patients were stable, 12 (24%) required dialysis and 14 (28%) patients had expired. The total non-favourable outcomes (dialysis / death) were higher with subtypes CRS-4 (n-11, 22%) and CRS-1 (n-8, 16%). Anemia, raised serum creatinine, low eGFR values, low ejection fraction were significant predictors of non-favourable outcome in our study. CRS occurs in all age groups, more commonly in elderlies with a male preponderance. Prevalence of CRS-1 was higher followed by CRS-4. Prognosis was unfavourable in CRS-1, CRS-4 and CRS-5. Sepsis was predominant cause of death in patients with CRS-5 with hundred percent mortality during hospital stay. Risk factors like pre-existing renal impairment

  11. Clinical aspects of lower leg compartment syndrome

    NARCIS (Netherlands)

    Brand, Johan Gerard Henric van den

    2004-01-01

    A compartment syndrome is a condition in which increased pressure within a limited space compromises the circulation and function of tissues within that space. Although pathofysiology is roughly similar in chronic exertional and acute compartment syndrome of the lower leg, the clinical

  12. Schnitzler syndrome: clinical features and histopathology

    Directory of Open Access Journals (Sweden)

    Dingli D

    2015-06-01

    Full Text Available David Dingli,1,2 Michael J Camilleri3 1Division of Hematology, Department of Internal Medicine, 2Department of Molecular Medicine, 3Department of Dermatology, Mayo Clinic, Rochester, MN, USA Abstract: Schnitzler syndrome is a rare and underrecognized syndrome characterized by chronic urticaria, a monoclonal protein, and a variety of other symptoms, including fever, bone pain, organomegaly, and evidence of an acute phase response. Biopsy of an involved area of the skin shows a neutrophilic infiltrate without evidence of vasculitis or hemorrhage. Although the etiology of the syndrome is unknown, current evidence suggests this is an autoinflammatory syndrome. Recognition of this syndrome is critical since it is highly responsive to anakinra. Keywords: neutrophilic urticarial dermatosis, autoinflammatory syndrome, monoclonal gammopathy, neutrophilic dermatosis, anakinra 

  13. Eosinophilic Enteritis with Ascites in a Patient with Overlap Syndrome

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    Spyros Aslanidis

    2009-01-01

    Full Text Available Gastrointestinal involvement is frequent in patients with systemic lupus erythematosus (SLE. Eosinophilic gastroenteritis, however, has only rarely been described in rheumatological conditions, despite its reported connection to autoimmune diseases, such as hypereosinophilic syndrome, vasculitides, and systemic mastoidosis. It presents typically with abdominal pain and diarrhea and is only exceptionally associated with ascites. Diagnosis can be problematic, as several other clinical conditions (malignancies, infection/tuberculosis, and inflammatory bowel diseases have to be ruled out. It is basically a nonsurgical disease, with excellent recovery on conservative treatment. We report the rare case of a young woman with overlap syndrome who presented with abdominal pain and ascites. The diagnosis of eosinophilic enteritis was made based on clinical, radiological, and laboratory criteria. The patient was treated with corticosteroids with excellent response.

  14. Muckle–Wells syndrome: clinical perspectives

    Directory of Open Access Journals (Sweden)

    Tran TA

    2017-07-01

    Full Text Available Tu-Anh Tran Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France Abstract: Muckle–Wells syndrome (MWS is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue are the main clinical manifestations of MWS. Yet, sensorineural hearing loss and renal amyloidosis can occur after long term evolution. Patients’ quality of life has been drastically improved with the advent of IL-1 inhibitors. This review reports recent findings in MWS, particularly genotype/phenotype correlation, and discusses the clinical perspectives of this disease in a time of efficient treatment. Keywords: Muckle–Wells syndrome, anti-interleukin 1, anakinra, rilonacept, canakinumab, clinical presentation, cryopyrin-associated periodic syndrome, CAPS, NLRP3 gene

  15. Antiphospholipid Syndrome Clinical Research Task Force Report

    NARCIS (Netherlands)

    Erkan, D.; Derksen, R.; Levy, R.; Machin, S.; Ortel, T.; Pierangeli, S.; Roubey, R.; Lockshin, M.

    The Antiphospholipid Syndrome (APS) Clinical Research Task Force (CRTF) was one of six Task Forces developed by the 13(th) International Congress on Antiphospholipid Antibodies (aPL) organization committee with the purpose of: a) evaluating the limitations of APS clinical research and developing

  16. Clinical Features of Restless Legs Syndrome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-12-01

    Full Text Available Clinical characteristics of childhood-onset restless legs syndrome (RLS were studied in 32 (5.9% patients, <18 years of age, diagnosed with the disorder among 538 who attended the Pediatric Sleep Disorders Center with sleep-wake complaints, between January 2000 and March 2004, at the Mayo Clinic, Rochester, MN.

  17. Molecular and Clinical Aspects of Angelman Syndrome

    Science.gov (United States)

    Dagli, A.; Buiting, K.; Williams, C.A.

    2012-01-01

    The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2–q13 genomic region identifies 75–80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5–10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity. PMID:22670133

  18. Reye's syndrome: a clinical review.

    Science.gov (United States)

    Crocker, J F; Bagnell, P C

    1981-01-01

    Reye's syndrome is a virus-associated biphasic disease that causes acute encephalopathy in infants and children. Epidemiologic and experimental data support the hypothesis that it is a multifactorial disease of modern civilization. Just as young patients seem to be recovering uneventfully from the first phase of the illness, usually a nonspecific viral-like illness such as a respiratory tract infection or gastroenteritis, the second phase, encephalopathy, starts unexpectedly, with vomiting and sensorial changes. Identifying the syndrome early ;in the second phase and referring the child to a specialized centre with the experience, staff and facilities to manage this phase has improved the numbers and neurologic condition of survivors, though the overall mortality is still about 20%. Therapy is primarily directed at facilitating adequate cerebral perfusion pressure. PMID:6783291

  19. Clinical spectrum of silver - Russell syndrome

    Directory of Open Access Journals (Sweden)

    Sapna N.K. Varma

    2013-01-01

    Full Text Available Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

  20. Clinical characteristics of Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    L Balyen

    2017-01-01

    Full Text Available Crouzon syndrome (CS is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2 was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure. Surgery is mainly carried out early after 3–6 months. Second is the craniofacial reconstructive surgery including advancement of the maxilla and frontonasal complex; and other surgeries depending upon the deformities. An increased intracranial pressure impairs brain development and can lead to mental retardation. Because of the delayed diagnosis and treatment in this case, visual and hearing loses and decreased mental capacity and mild retardation.

  1. [Terson syndrome. Complicated clinical course].

    Science.gov (United States)

    Daus, W; Käsmann, B; Alexandridis, E

    1992-02-01

    A report is given on three patients who developed spontaneous subarachnoidal bleeding, together with vitreous hemorrhage (Terson's syndrome). In two patients the vitreous hemorrhage was unilateral and showed spontaneous resorption within 15 months. The third patient presented with bilateral vitreous hemorrhage, which first showed slow spontaneous resorption. Five months later, however, secondary vitreous bleeding occurred. Vitrectomy was therefore performed in both eyes. Post-operatively, both eyes developed focal vitreoretinal reproliferations with retinal tears, which led to retinal detachment that was successfully treated by surgery. Because of these observations we can make the following suggestions: in patients presenting with unilateral vitreous hemorrhage one should first watch the spontaneous resorption of the hemorrhage. If there is delayed blood resorption in bilateral vitreous hemorrhage and at the beginning of the hemorrhage, a pars plana vitrectomy should be performed. In one patient an additional ocular symptom peripheral paresis of the facial nerve; a second patient presented with paresis of the oculomotor nerve. Both resolved spontaneously within 15 months.

  2. Histoplasmosis: clinical syndromes and management.

    Science.gov (United States)

    Stinson, J M; Talley, P A; Thomas, F E

    1979-06-01

    The fungus Histoplasma capsulatum produces a spectrum of disease forms ranging from a benign self-limited illness to progressive disseminated disease with a 50 percent mortality rate. The drug of choice, amphotericin B, must be given intravenously over a prolonged course and carries a high incidence of toxicity. Thus, optimal managment of serious forms of histoplasmosis requires considerable clinical judgment.

  3. [Acute kidney injury : A clinical syndrome].

    Science.gov (United States)

    Bienholz, A; Kribben, A

    2016-10-01

    Acute kidney injury (AKI) is a clinical syndrome occurring in the context of multiple and diverse disease entities. Although the term AKI implies renal damage as well as functional impairment or a combination of both, diagnosis is solely based on the functional parameters serum creatinine and urine output. Independent of the underlying disease and even assuming full recovery of renal function, AKI is associated with increased morbidity and mortality not only during the acute situation, but also long term. Awareness of the individual risk profile of each patient and the variety of causes and clinical manifestations of AKI is pivotal for prophylaxis, diagnosis, and therapy. The complexity of the clinical syndrome in the context of sepsis, solid organ transplantation, malignancy, and autoimmune diseases requires differentiated diagnostic and therapeutic approaches and interdisciplinary care.

  4. Clinical implications of de Barsy syndrome.

    Science.gov (United States)

    Warner, Lindsay L; Olsen, David A; Smith, Hugh M

    2017-11-17

    De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome. A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. We collected and analyzed the perioperative records and following data: age, sex, American Society of Anesthesiologists physical status, relevant comorbidities, surgical procedures, anesthesia management, and observed complications. Three patients underwent 64 unique anesthetics for a diverse collection of diagnostic and surgical procedures. An array of anesthetics and techniques were successfully used. Observations of the perioperative period found 7 episodes of intraoperative hyperthermia (>38.3°), a single difficult airway requiring fiberoptic bronchoscopic-guided intubation, and repeatedly difficult intravenous access. This expanded case series suggests that providers caring for patients with de Barsy syndrome should be aware of potential challenges with airway management, vascular access, and temperature monitoring. © 2017 John Wiley & Sons Ltd.

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

    Directory of Open Access Journals (Sweden)

    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

  6. [Clinical and cellular studies in a patient with Cockayne syndrome].

    Science.gov (United States)

    Bianchi, C; Petecca, M C; Baricci, D; Lagomarsini, P; Stefanini, M

    1992-12-01

    Hypersensitivity to the lethal effect of ultraviolet light (UV) and other DNA-damaging agents has been observed in cells from patients affected by Cockayne syndrome, suggesting that this syndrome is deficient in the capability to repair damage in cellular DNA. We report a case showing the main clinical features of Cockayne syndrome in which the clinical and cellular photosensitivity described as typical for Cockayne syndrome is not present. These cytological results suggest that there is considerable clinical and cellular heterogeneity in Cockayne syndrome and that cellular sensitivity to UV might not be as essential for the diagnosis of Cockayne syndrome as previously thought.

  7. Clinical features and prognosis of Reye's syndrome.

    Science.gov (United States)

    Glasgow, J F

    1984-01-01

    Twenty three sporadic cases of Reye's syndrome diagnosed according to widely accepted criteria were seen between 1979 and 1982. The patients were younger than those reported from North America (median age 9 months), girls were twice as common as boys, and the syndrome presented twice as frequently in the summer 6 months. The annual incidence was 1.4 cases/100 000 among children aged less than 4 years. The prodrome consisted of upper respiratory symptoms in 61% of the children and even less specific features in more than 25%; two patients had varicella. Six of the 23 patients presented after a prodrome of less than 24 hours with 'acute collapse', simulating 'near miss' cot death associated with profound hypoglycaemia, and in four of these there was an unfavourable outcome. Intensive care methods including judicious fluid restriction coupled with 'prophylactic' hyperventilation (87%), direct monitoring of intracranial pressure (70%), and barbiturate coma (52%) achieved neurologically intact survival in 74% of patients. Failure to recognise the syndrome early enough or to manage it appropriately resulted in four deaths. To help reduce overall mortality in the United Kingdom paediatricians have a duty to acquaint family doctors and emergency department staff of the earliest clinical features of Reye's syndrome and of the need for immediate hospital referral. PMID:6712271

  8. Polycystic ovary syndrome: clinical implication in perimenopause

    Directory of Open Access Journals (Sweden)

    Monika Lenart-Lipińska

    2014-12-01

    Full Text Available Polycystic ovary syndrome (PCOS, a hyperandrogenic disorder, is the commonest endocrinopathy in premenopausal women. This syndrome is associated with fertility problems, clinical manifestations of hyperandrogenism and metabolic disturbances, particularly insulin resistance and obesity. There is a great body of evidence that patients with PCOS present multiple cardiovascular risk factors and cluster components of metabolic syndrome from early ages. The presence of comorbidities such as abdominal obesity, insulin resistance, type 2 diabetes, hypertension places these females at an increased risk of future cardiovascular events. However, the extent to which PCOS components are present in perimenopausal women and the degree to which PCOS increases various risk factors in addition to the known risk of the perimenopausal period have not been fully determined. The perimenopausal period per se is associated with weight gain and an increased cardiovascular risk, which may be additionally aggravated by the presence of metabolic disturbances connected with PCOS. The phenotype of PCOS may improve with aging and it is still uncertain whether the presence of PCOS significantly increases the cardiovascular risk later in women’s life. Most recent data suggest that the prevalence of cardiovascular diseases and the related long-term consequences in females with PCOS seem to be lower than expected. This manuscript reviews long-term consequences of PCOS and considers their clinical implications in perimenopause.

  9. Prader-Willi Syndrome: Clinical Aspects

    Science.gov (United States)

    Elena, Grechi; Bruna, Cammarata; Benedetta, Mariani; Stefania, Di Candia; Giuseppe, Chiumello

    2012-01-01

    Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy. PMID:23133744

  10. Clinical characteristics of Caroli’s syndrome

    Science.gov (United States)

    Yonem, Ozlem; Bayraktar, Yusuf

    2007-01-01

    Caroli’s syndrome is characterized by multiple segmental cystic or saccular dilatations of intrahepatic bile ducts associated with congenital hepatic fibrosis. The clinical features of this syndrome reflect both the characteristics of congenital hepatic fibrosis such as portal hypertension and that of Caroli’s disease named as recurrent cholangitis and cholelithiasis. The diagnosis depends on both histology and imaging methods which can show the communication between the sacculi and the bile ducts. Treatment consists of symptomatic treatment of cholangitis attacks by antibiotics, some endoscopic, radiological and surgical drainage procedures and surgery. Liver transplantation seems the ultimate treatment for this disease. Prognosis is fairly good unless recurrent cholangitis and renal failure develops. PMID:17461493

  11. Clinical and epidemiologic characteristics of nodding syndrome in ...

    African Journals Online (AJOL)

    Background: Nodding syndrome (repetitive nodding and progressive generalized seizures) is assuming epidemic proportions in South Sudan, Tanzania and Uganda. Objective: To describe clinical and epidemiological features of nodding syndrome in southern Sudan based on preliminary investigations conducted in 2001 ...

  12. Faciocardiorenal syndrome: a wide clinical spectrum?

    Science.gov (United States)

    Brambila Tapia, A J L; Vásquez Velásque, A I; González Mercado, M G; Macías Chumacera, A; Gutierrez-Amavizca, B E; Lara Aguilar, R A; Pérez Juárez, Canton R; Moreno Andrade, A; Figuera, L E

    2012-01-01

    Faciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and mental retardation. We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrows, broad nasal root, long philtrum and microretrognathia) and psychomotor delay. Associated anomalies were: plagiocephaly, broad halluces, nail hypoplasia, cryptorchidism, diastasis recti, and adducted thumbs. Focal seizures in the mouth were also observed. The radiographs revealed advanced bone age and metaphyseal widening of femur and tibia. FCRS has an unknown etiology with only three reported cases so far (since 1977). We report a patient with the main features of FCRS but without the renal component, suggesting that this entity can present a wide clinical spectrum. Based on these findings and on the few previously reported cases with a highly variable phenotype when compared with the original report, we suggest that FCRS should be further clinical delineated according to the following leading anomalies: endocardial fibroelastosis, unusual facial appearance and mental retardation, in order to find more cases that allow a wider clinical description and the identification of the genetic defect(s).

  13. Clinical Implications of Treacher Collins Syndrome

    OpenAIRE

    Plomp, Raul

    2015-01-01

    markdownabstract__Abstract__ Treacher Collins syndrome (OMIM 154500) is a rare congenital craniofacial condition.1 The incidence of Treacher Collins syndrome is nowadays estimated at 1 in 50,000.2-3 Based on this, every year approximately 4-5 patients are born with this syndrome in the Netherlands. Treacher Collins syndrome has several eponyms, for example it is also known as Franceschetti-Zwahlen-Klein syndrome or Berry syndrome. George Andreas Berry in 1889 first described an abortive form ...

  14. Blau syndrome, clinical and genetic aspects.

    Science.gov (United States)

    Sfriso, Paolo; Caso, Francesco; Tognon, Sofia; Galozzi, Paola; Gava, Alessandra; Punzi, Leonardo

    2012-11-01

    Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous recurrent uveitis, dermatitis and symmetric arthritis. The gene responsible for BS has been identified in the caspase recruitment domain gene CARD15/NOD2. In the majority of patients, the disease is characterized by early onset, usually before 3-4years of age. The manifestations at disease onset are usually represented by articular and cutaneous involvement signs, generally followed later by ocular manifestations which are often the most relevant morbidity of BS. In some cases the presence of fever is also observed; atypical cases of BS have been reported with cardiovascular, neurological, renal, intestinal and other organ involvement. The rarity and the variations in the severity and evolution of its expressions do not permit sufficient data about optimal treatment for patients with BS. The first step of therapy is represented by the use of corticosteroids and successively, in case of unsatisfactory response, by additional treatment with immunosuppressive agents. The results with biologic anti-cytokine agents, such as anti-TNFα and anti-IL1β, are different, particularly with regard to ocular morbidity. Clinical and genetic aspects of the familial and the sporadic form of BS will be discussed and focused on. A description of a case study of an Italian family is also included. Copyright © 2012 Elsevier B.V. All rights reserved.

  15. A clinical study of Noonan syndrome.

    Science.gov (United States)

    Sharland, M; Burch, M; McKenna, W M; Paton, M A

    1992-01-01

    Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal echocardiogram present in only 12.5% of all cases. Significant feeding difficulties during infancy were present in 76% of the group. Although the children were short (50% with a height less than 3rd centile), and underweight (43% with a weight less than 3rd centile), the mean head circumference of the group was on the 50th centile. Motor milestone delay was usual, the cohort having a mean age of sitting unsupported of 10 months and walking of 21 months. Abnormal vision (94%) and hearing (40%) were frequent findings, but 89% of the group were attending normal primary or secondary schools. Other associations included undescended testicles (77%), hepatosplenomegaly (50%), and evidence of abnormal bleeding (56%). The mean age at diagnosis of Noonan syndrome in this group was 9.0 years. Earlier diagnosis of this common condition would aid both clinical management and genetic counselling. Images Figure 1 Figure 2 Figure 3 PMID:1543375

  16. [Cushing's syndrome: clinical study of fifteen cases].

    Science.gov (United States)

    Calvo Romero, J M; Morales Pérez, F; Alvarez Barreiro, J A; Diaz Pérez de Madrid, J

    1998-05-01

    To study the epidemiological and clinical features and diagnostic tests of Cushing's syndrome (CS) of non-iatrogenic etiology, because of there are few similar studies in the last ten years. Fifteen cases of CS were diagnosed from 1992 to 1997 at our hospital. We describe the epidemiological, clinical, biochemical, radiologic, therapeutic and evolutive characteristics. Both diabetes mellitus and hypertension were observed in 40% of patients. The frequency of etiologies was: Cushing's disease, 66.6%; ectopic ACTH syndrome, 13.3%; adrenal adenoma, 6.6%; adrenal carcinoma, 6.6%; and undiagnosed, 6.6%. The 24-hour urine free cortisol (UFC) and the overnight 1 mg oral dexamethasone suppression test yielded 93.3 and 100% diagnostic sensitivity for CS, respectively. The overnight 8 mg oral dexamethasone suppression test, the metyrapone test and the 7 mg intravenous dexmethasone test had 75, 50 and 60% diagnostic sensitivity for Cushing's disease, respectively. Ketoconazole treatment had success in to normalize the 24-hour UFC in all patients, except for the case of adrenal carcinoma. The Cushing's disease was the most common form of CS. The 24-hour UFC and overnight 1 mg oral dexamethasone suppression test were good screening studies. Ketoconazole was successful in normalizing the adrenal cortex function.

  17. Gender Differences in Clinical Manifestations of Brugada Syndrome

    National Research Council Canada - National Science Library

    Benito, Begoña; Sarkozy, Andrea; Mont, Lluis; Henkens, Stephan; Berruezo, Antonio; Tamborero, David; Arzamendi, Dabit; Berne, Paola; Brugada, Pedro; Brugada, Josep; Brugada, Ramon

    2008-01-01

    .... A male predominance has been reported in the Brugada syndrome. No specific data are available, however, concerning gender differences in the clinical manifestations and their role in prognosis...

  18. Clinical Characteristics of Marfan Syndrome in Korea.

    Science.gov (United States)

    Lim, A Young; Song, Ju Sun; Kim, Eun Kyoung; Jang, Shin Yi; Chung, Tae-Young; Choi, Seung-Hyuk; Sung, Kiick; Huh, June; Kang, I-Seok; Choe, Yeon Hyeon; Ki, Chang-Seok; Kim, Duk-Kyung

    2016-11-01

    Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included. The mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was

  19. 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.

  20. 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.

  1. Anticonvulsant hypersensitivity syndrome: clinical and laboratory features.

    Science.gov (United States)

    Mansur, Ayşe Tülin; Pekcan Yaşar, Sirin; Göktay, Fatih

    2008-11-01

    Anticonvulsant hypersensitivity syndrome (AHS) is a severe adverse drug reaction with multiorgan involvement. Aromatic anticonvulsants are the most frequently involved drugs. This study was aimed to highlight the clinical and laboratory findings of AHS. The medical records of 31 patients diagnosed as AHS in a 12-year period were evaluated retrospectively. The syndrome was related to carbamazepine in 48.38%, phenytoin in 35.48%, lamotrigine in 9.6% and cotreatment with lamotrigine and valproic acid in 6.45% of cases. Symptoms appeared 2-86 (mean: 35.96) days after ingestion of the offending agent. The type of skin rash was maculopapular and/or erythrodermic in 77.42% of patients, bullous in 19.35%, and erythematopustular in 3.22%. Fever and peripheral lymphadenopathy were detected in 61.29% and 54.82% of cases, respectively. Laboratory investigations revealed elevation of hepatic enzymes in 70.96%, leucocytosis in 43.3%, and peripheral eosinophilia in 64.3% of patients. Our analysis showed that carbamazepine and phenytoin are still the major causes of AHS, with lamotrigine being the third etiologic agent. Valproic acid and benzodiazepines are safe alternatives of the causative anticonvulsants. As there are yet no strict diagnostic criteria, the constellation of clinical and laboratory features that occur within 3 months of the associated anticonvulsant agents helps to recognize the disorder. The risk of seizure due to withdrawal or changing of the anticonvulsant drug and the potentially serious clinical features often necessitates providing care and treatment in an inpatient setting.

  2. Evaluation of clinical features of 11 cases with DRESS syndrome

    Directory of Open Access Journals (Sweden)

    Selma Emre

    2013-12-01

    Full Text Available Background and design: DRESS (Drug Rash with Eoshinophilia and Systemic Symptoms syndrome is a severe reaction induced by drugs and accompanied by cutaneous, hematologic and solid organ involvement. Since the syndrome requires specific treatments and has high mortality rates, early diagnosis is very important. In our country, any descriptive study has not been reported about patients with DRESS syndrome except for a few case presentations. Therefore, we aimed to investigate the clinical characteristics of patients with DRESS syndrome diagnosed and treated in our inpatient clinic. Material and method: The records of patients diagnosed as DRESS syndrome or drug eruption were retrospectively analyzed. Scoring system created by a RegiSCAR group was used. Patients with certain, probable and possible DRESS syndrome were identified. Clinical features, laboratory findings and etiological factors were noted. Results: Seven males and 4 females with DRESS syndrome were enrolled. Nine patients were identified as definite case and two were probable DRESS syndrome. Aromatic anticonvulsants were the only responsible drugs (phenytoin in 5, carbamezepine in 3, lamotrigine in 3 patients. All patients had cutaneous manifestations and hematological abnormalities. Fever, liver function impairment, lymphadenopathy, renal disease and pneumonia were the clinical findings in order of frequency. Cessation of responsible drugs and treatment with systemic corticosteroids achieved full remission in all patients. Conclusion: DRESS syndrome may present with various clinical manifestations. Because signs and symptoms form the basis for recognition of the disease, good knowledge of clinical features is important in early diagnosing of DRESS syndrome and reduction of mortality and morbidity.

  3. Prader-Willi Syndrome: Clinical Aspects

    Directory of Open Access Journals (Sweden)

    Grechi Elena

    2012-01-01

    Full Text Available Prader-Willi Syndrome (PWS is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13. The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.

  4. [Post Lyme syndrome as a clinical problem].

    Science.gov (United States)

    Moniuszko, Anna; Czupryna, Piotr; Zajkowska, Joanna; Pancewicz, Sławomir A; Grygorczuk, Sambor; Kondrusik, Maciej

    2009-03-01

    Lyme disease is a chronic tick borne disease, caused by spirochetes B. burgdorferi. The condition influences mostly on skin, nervous system, skeletal system and circulatory system. Recently more and more reports of so called "Post Lyme syndrome (PLS)" have appeared. PLS is a new clinical, diagnostic and therapeutic problem connected with patients with a history of Lyme disease (with proper antibiotic treatment). The symptoms of Post Lyme Syndrome may be present throughout months or even years. These are: fatigue, widespread musculoskeletal pain, dysmnesia, concentration difficulties. Pathogenesis of PLS is unknown. It is suspected that main factors responsible for PLS are: slow regression of infection, its turning into chronic process and permanent destruction of tissues or induction of immunological response against B. burgdorferi. Diagnostic of PLS is difficult. Mostly results of serological examination are negative. In some cases antibodies titer is positive as a sign of past disease. So far there is no causative treatment of PLS. Antidepressants, painkillers and anti-inflammatory medicines are recommended.

  5. Munchausen syndrome by proxy: ongoing clinical challenges.

    Science.gov (United States)

    Squires, Janet E; Squires, Robert H

    2010-09-01

    In 1977, Roy Meadow, a pediatric nephrologist, first described a condition he subsequently coined Munchausen syndrome by proxy. The classic form involves a parent or other caregiver who inflicts injury or induces illness in a child, deceive the treating physician with fictitious or exaggerated information, and perpetrate the trick for months or years. A related form of pathology is more insidious and more common but also damaging. It involves parents who fabricate or exaggerate symptoms of illness in children, causing overly aggressive medical evaluations and interventions. The common thread is that the treating physician plays a role in inflicting the abuse upon the child. Failure to recognize the problem is common because the condition is often not included in the differential diagnosis of challenging or confusing clinical problems. We believe that a heightened "self-awareness" of the physician's role in Munchausen syndrome by proxy will prevent or reduce the morbidity and mortality associated with this diagnosis. In addition, we believe contemporary developments within the modern health care system likely facilitate this condition.

  6. Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis

    Directory of Open Access Journals (Sweden)

    O.Ye. Abaturov

    2015-10-01

    Full Text Available The article presents the main clinical manifestations of Angelman syndrome. The article contains current data about the features of the physical, intellectual, verbal and sexual development of patients with Angelman syndrome. There are shown the data of the relationship of clinical features of Angelman syndrome with the nature of genetic disorders. The article presents the clinical criteria for diagnosis of Angelman syndrome in view of the incidence of key clinical signs. The authors reviewed the intended use of the molecular genetic analysis to verify the diagnosis and determine the genetic mechanism of Angelman syndrome. This article contains the algorithm of laboratory and diagnostic methods for molecular genetic exa-mination of patients with Angelman syndrome.

  7. Goldenhar syndrome: clinical features with orofacial emphasis.

    Science.gov (United States)

    Martelli, Hercílio; Miranda, Roseli Teixeira de; Fernandes, Cassandro Moreira; Bonan, Paulo Rogério Ferreti; Paranaíba, Lívia Máris Ribeiro; Graner, Edgard; Coletta, Ricardo D

    2010-12-01

    Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.

  8. Goldenhar syndrome: clinical features with orofacial emphasis

    Directory of Open Access Journals (Sweden)

    Hercílio Martelli-Júnior

    2010-12-01

    Full Text Available OBJECTIVES: Goldenhar syndrome (GS is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS: The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. RESULTS: All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. CONCLUSION: Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.

  9. 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...

  10. Clinical Observation of a Child with Down Syndrome and Glucose and Galactose Malapsorbtion Syndrome

    Directory of Open Access Journals (Sweden)

    A.I. Kozhemiaka

    2015-07-01

    Full Text Available The article deals with a clinical case of primary glucose and galactose malabsorption syndrome in a child with Down syndrome. Difficulty in diagnosis of glucose and galactose malabsorption syndrome in this observation is due to a combination of this disease with other genetic pathology. The article introduces pediatricians and family doctors to the possible comorbidities of various congenital nosological forms.

  11. Systemic thromboembolism in endomyocardial fibrosis (EMF): clinical observations, aetio-pathogenesis and treatment.

    Science.gov (United States)

    Andy, J J; Ekott, J U; Ansa, V O

    2010-09-01

    Mural thrombi and thromboemboli are very common in idiopathic hypereosinophilic syndrome (HES), whose cardiac pathology is indistinguishable from endomyocardial fibrosis (EMF). Although mural thrombi are common in EMF cases, and post mortem embolic infarcts are frequently seen; clinical recognition of thromboembolism in EMF is unusual. We report here 4 cases of clinically recognized thromboembolism among 106 consecutive cases of EMF (including a case with a sudden onset of vascular occlusion and a below knee infarction and auto-amputation of the right leg). Two of the 4 cases had hypereosinophilia that was probably induced by microfilaria. The mechanisms of mural thrombosis and thromboembolic infarcts in EMF cases are discussed, and the possibility shown that helminth induced eosinophilic myocarditis can induce similar acute mural thrombosis and thromboembolism. The place of anticoagulant therapy in EMF is discussed.

  12. Clinical Implications of Treacher Collins Syndrome

    NARCIS (Netherlands)

    R.G. Plomp (Raul)

    2015-01-01

    markdownabstract__Abstract__ Treacher Collins syndrome (OMIM 154500) is a rare congenital craniofacial condition.1 The incidence of Treacher Collins syndrome is nowadays estimated at 1 in 50,000.2-3 Based on this, every year approximately 4-5 patients are born with this syndrome in

  13. Babinski-Nageotte's syndrome and Hemimedullary (Reinhold's) syndrome are clinically and morphologically distinct conditions.

    Science.gov (United States)

    Krasnianski, Michael; Neudecker, Stephan; Schluter, Andreas; Zierz, Stephan

    2003-08-01

    A hemimedullary infarction, in which medial and lateral medullary lesions occur simultaneously, is a rare cerebrovascular disease. It has been suggested that the Babinski-Nageotte's syndrome is the classical brainstem syndrome that corresponds to hemimedullary lesion. In this study we compare clinical symptoms and magnetic resonance imaging (MRI) data of two patients exhibiting classical Babinski-Nageotte's syndrome according to the original description with symptoms and MRI data of a patient with clinically complete hemimedullary lesion. Our study shows that Babinski-Nageotte's syndrome is neither clinically nor on MRI identical with hemimedullary lesion. Hypoglossal palsy, an invariable symptom of hemimedullary syndrome, is not part of the Babinski-Nageotte's syndrome according to the original description. Consistent with the original historical report, Babinski- Nageotte's syndrome is a lateral "Wallenbergian" medullary lesion with a spreading of the lesion to the more basal localised pyramidal tract. The clinical features of the hemimedullary syndrome, described in 1894 by Reinhold, and the MRI appearances in our patient with this syndrome are clearly different from other classical brainstem syndromes and should be called Reinhold's syndrome.

  14. A clinically isolated syndrome: butterfly glioma mimic

    Directory of Open Access Journals (Sweden)

    Ramshekhar Menon

    2015-01-01

    Full Text Available The report explores a unique and treatable "butterfly"- glioma mimic and the neuroimaging characteristics that help to diagnose this entity. A 35-year-old patient presented with subacute-onset, progressive frontal lobe dysfunction followed by features of raised intracranial pressure. Neuroimaging features were consistent with a "butterfly" lesion that favored the possibility of a gliomatosis cerebri with significant edema and marked corpus callosum and fornix thickening. Contrast-enhanced and perfusion images revealed a confluent tumefactive lesion with a characteristic "broken-ring" pattern of enhancement, mass-effect and low perfusion; features favoring an alternative inflammatory pathology. This was peculiar as calloso-forniceal involvement of this nature has not been previously reported in inflammatory demyelinating mass lesions. This was confirmed as a tumefactive demyelination on histopathology. Following treatment, on clinical and imaging follow-up, significant resolution was evident suggesting a monophasic illness. This case highlights the stringent clinico-radiological-pathological approach required in the evaluation and management of butterfly lesions despite the striking imaging appearances. Tumefactive demyelination in this patient represents a clinically isolated syndromic presentation of an inflammatory pathology that can resemble gliomatosis cerebri. These "butterfly"-glioma mimics are scarcely reported in the literature, are eminently treatable with variable prognosis and prone for relapse.

  15. Polycystic ovary syndrome: clinical and laboratory evaluation

    Directory of Open Access Journals (Sweden)

    Marcos Yorghi Khoury

    Full Text Available OBJECTIVE: To evaluate clinically, and with laboratory, tests, women with polycystic ovary syndrome (PCO. PATIENTS: One hundred and twelve women with PCO were studied. METHODS: The following data was recorded: Current age; age at menarche; menstrual irregularity, occurrence of similar cases in the family; fertility, obstetric history; body mass index (BMI; and presence of hirsutism. Serum measurements of follicle stimulating hormone (FSH, luteinizing hormone (LH, prolactin, free testosterone, and dehydroepiandrosterone sulfate were taken. RESULTS: All patients presented either oligomenorrhea (31 percent, periods of secondary amenorrhea (9 percent, or both alterations (60 percent. The majority of the patients were infertile (75.6 percent. The LH/FSH ratio was higher than 2:1 in 55 percent of the patients and higher than 3:1 in 26.2 percent. The ultrasonographic aspect of the ovaries was considered to be normal in 31 percent. CONCLUSION: The main clinical feature of the PCO is the irregularity of menses since menarche, and that the laboratory tests would be important to exclude other disorders such as hyperprolactinemia or hyperandrogenemia caused by late-onset congenital adrenal hyperplasia.

  16. [Myelodysplastic syndromes: pathophysiology, clinical and biological features].

    Science.gov (United States)

    Becha, Mohamed; Braham Jmili, Néjia

    2015-01-01

    Myelodysplastic syndromes (MDS) are hemopathies very common in geriatric practice. They are characterized by qualitative morphological abnormalities of one or more myeloid lineages responsible for an ineffective hematopoiesis, and therefore cytopenias of central origin contrasting with a usually rich bone marrow wealth. The MDS are asymptomatic in half of the cases and their discovery is a result of systematic blood analysis or tests to explore another disease. The evolution is marked by worsening cytopenias, and the risk of acute myeloid leukemia transformation with poor prognosis because frequently chemoresistant. The diagnosis of MDS is pronounced after a clinico-biological confrontation to discuss the differential diagnosis taking into account all clinical and cytological data, results of conventional cytogenetics and evolution after vitamin therapy. Knowledge more depth on MDS refine MDS classification criteria by developing successive classifications (FAB 1982, WHO 2001 and 2008) which aim the identification of MDS groups with clinical, biological and common prognostic. The treatment of MDS is essentially symptomatic. The development of new targeted therapeutic strategies enables high hopes in a context where treatment options are a difficult choice, because the advanced age of most patients. Finally, detailed knowledge of risk factors and prognostic scores are very useful to make the best treatment decisions.

  17. [Asperger syndrome: evolution of the concept and current clinical data].

    Science.gov (United States)

    Aussilloux, C; Baghdadli, A

    2008-05-01

    Although Asperger syndrome is described by international classifications as a category of pervasive developmental disorder (PDD), its validity as a specific entity distinct from autistic disorders remains controversial. The syndrome, first described by Hans Asperger, could not be distinguished from high functioning autism (onset, symptoms, outcome...). However, international classifications propose a distinction between the two syndromes based on a delayed onset, the absence of speech delay, the presence of motor disorders and a better outcome in Asperger syndrome. This categorical differentiation is not confirmed by current studies and in the absence of biological markers, no clinical, neuropsychological or epidemiological criteria makes it possible to distinguish high functioning autism from Asperger syndrome. From a clinical perspective, it is nevertheless of interest to isolate Asperger syndrome from other autistic disorders to propose specific assessment and therapy.

  18. Cardiorenal Syndrome: The Clinical Cardiologists’ Perspective

    Science.gov (United States)

    Chan, Eric J.; Dellsperger, Kevin C.

    2011-01-01

    The term cardiorenal syndrome has evolved over the years. The understanding of the interactions between these two organ systems has led to better recognition and treatment strategies. As cardiovascular mortality is high in individuals with renal dysfunction, it is imperative to understand the pathophysiology behind the disease process. This knowledge may better serve these patients with this syndrome and improve their outcomes. In this review, we examine the key issues of the cardiorenal syndrome from a cardiologist's perspective. PMID:22258462

  19. Clinical correlates of the restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Luis Fabiano Marin

    2012-07-01

    Full Text Available OBJECTIVE: To determine the clinical correlates of the restless legs syndrome (RLS in a Brazilian sleep disorders center. METHODS: We retrospectively studied 118 patients with RLS from January, 2004, to December, 2010. The analyzed variables were: age at disease onset, gender, race, years of school instruction, primary and secondary RLS, and treatment options. RESULTS: Among the studied patients, 83.9% were women with a female/male sex ratio of 5:1. Mean age of the patients at symptom onset ± standard deviation was 41.7±17.9 years-old. The primary RLS was found in 85% of patients. The other 15% remainders consisted of secondary forms, and they were associated with neuropathy, iron deficiency anemia, end-stage renal disease, or Parkinson's disease. Drug therapy for RLS was introduced in 67% of patients. CONCLUSIONS: Most patients presented primary RLS with an early disease onset. Further epidemiological studies are welcomed to provide better information on secondary RLS in Brazil.

  20. [DRESS syndrome in paediatrics. Clinical case].

    Science.gov (United States)

    Silva-Feistner, Marcos; Ortiz, Elena; Rojas-Lechuga, María Jesús; Muñoz, Daniel

    2016-07-01

    Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, potentially life-threatening, drug-induced hypersensitivity reaction that includes skin eruption, haematological abnormalities, lymphadenopathy, and internal organ involvement. Presenting a rare condition in children, to facilitate a rapid diagnostic suspicion and recognition by doctors CASE REPORT: An 9 months old infant admitted due to a severe viral pneumonia, managed with non-invasive ventilation and ceftriaxone. Five days after stopping antibiotics, a confluent maculopapular rash appeared, which was predominantly in the trunk, face and upper extremities, combined with a fever, eosinophilia, and elevated serum levels of transaminase. She received treatment with oral prednisone and topical corticosteroids for 6 weeks, with a good outcome after 3 months. The diagnosis of DRESS syndrome is made using clinical criteria, laboratory values, and histopathology, if there is any query. Although it is classically caused by anticonvulsants and sulphonamides, many other drugs have been implicated. The offending drug should be immediately discontinued and the patient given supportive treatment, and systemic corticosteroids for long periods of treatment. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Clinical, serological and genetic study in patients with CREST syndrome.

    Science.gov (United States)

    Akiyama, Y; Tanaka, M; Takeishi, M; Adachi, D; Mimori, A; Suzuki, T

    2000-06-01

    To assess the clinical, serological and genetic features of Japanese patients with CREST syndrome. Clinical features, autoantibodies and human histocompatibility leukocyte antigen (HLA) typing were studied in thirty patients with CREST syndrome, including 29 females and one male, with a mean age of 59.0 years (ranging from 40 to 76 years). Interstitial pneumonia on chest X-ray and renal involvement were rare. Mitral regurgitation and tricuspid regurgitation were present in 56.7% and 76.7%, respectively. Sjören's syndrome (SS) and primary biliary cirrhosis (PBC) were highly associated, however the positivity of the marker antibodies to those syndromes, such as anti-SSA, anti-SSB, anti-mitochondrial (AMA) and anti-smooth muscle autoantibodies were less frequent than that of primary SS and PBC without the other autoimmune diseases. The histological findings of PBC were all early stages in Scheuer's classification. HLA-Cw6 were associated with CREST-PBC overlap syndrome (pCREST syndrome, and the frequency of HLA-DR2 between CREST syndrome with or without PBC was significantly different (pCREST syndrome alone and CREST-PBC overlap syndrome and there were differences (the positivity of AMA and the severity of bile duct lesion) between PBC and CREST-PBC overlap syndrome.

  2. [Peculiarities of clinical manifestations of chronic abdominal ischemia syndrome].

    Science.gov (United States)

    Barkhatov, I V

    2013-01-01

    Peculiarities of clinical manifestations of chronic abdominal ischemia syndrome were studied. Clinical diagnostics of this condition encounters difficulties for the lack of pathognomonic symptoms, diversity of symptoms and similarity with other abdominal diseases. The study involving 110 patients with chronic abdominal pain syndrome included assessment of medical histories, duration of the disease, signs of concomitant gastroenetologic pathology (meteorism, colonic dysfunction, reduced body mass, etc.). The data obtained illustrate peculiarities of the clinical picture giving reason to suspect chronic abdominal ischemia syndrome at the early stage of its development. Such features as the absence of treatment effect, increased frequency, duration and severity of abdominal pain, its extension to all parts of the abdomen and association with food intake, colonic dysfunction (meteorism, constipation) and reduced body mass require exclusion of this syndrome in patients with persistent abdominal pain. The data obtained may be used in early diagnostics of chronic abdominal ischemia syndrome and differentiate it from other abdominal diseases.

  3. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel

  4. Smith-Magenis Syndrome: Genetic Basis and Clinical Implications

    Science.gov (United States)

    Finucane, Brenda; Haas-Givler, Barbara

    2009-01-01

    Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional…

  5. Arteriohepatic Dysplasia (Alagille Syndrome in a Child (Clinical Case

    Directory of Open Access Journals (Sweden)

    Ye.V. Omelchenko

    2015-03-01

    Full Text Available The article presents a clinical case of a child with a rare nosology — Alagille syndrome. Among the causes of neonatal cholestasis, Alagille syndrome is ranked second, it occurs with an incidence of 1 per 70,000 of newborns. This syndrome is characterized by an insufficient number or by a small dia­meter of intrahepatic bile ducts, which carry bile from the liver. Alagille syndrome includes a combination of at least three of the five main symptoms: chronic cholestasis, cardiovascular defects, abnormalities of the spine, eye defects, typical craniofacial signs. The only definitive therapy with the formation of liver cirrhosis and without gross defects is liver transplantation.

  6. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    De Munnik, Sonja A.; Hoefsloot, Elisabeth H.; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine Vam; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie Mhf

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  7. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    S. de Munnik (Sonja); E.H. Hoefsloot (Elisabeth H.); J. Roukema (Jolt); J. Schoots (Jeroen); N.V.A.M. Knoers (Nine); H.G. Brunner; A.P. Jackson (Andrew); E. Bongers (Ernie)

    2015-01-01

    textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia

  8. Clinical and genetic aspects of Angelman syndrome

    National Research Council Canada - National Science Library

    Williams, Charles A; Driscoll, Daniel J; Dagli, Aditi I

    2010-01-01

    Angelman syndrome is characterized by severe developmental delay, speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that includes happy demeanor and excessive laughter...

  9. Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study

    Directory of Open Access Journals (Sweden)

    Ashraff V V

    2004-01-01

    Full Text Available We report two brothers of Cockayne syndrome (CS with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and intracranial calcifiactions. These clinical with radiological features of cortical and cerebellar atrophy with basal ganglionic calcification and presence of consanguinity in parents and chromosome studies showing sister chromatid exchange in less than 6% strongly supported the diagnosis of Cockyne syndrome and differentiated it from Bloom′s syndrome and xeroderma pigmentosa. Without genetic analysis or tests for defective DNA repair, the diagnosis is mostly clinical.

  10. Clinical and genetic basis of congenital myasthenic syndromes

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza

    Full Text Available ABSTRACT Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.

  11. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  12. Munchausen Syndrome by Proxy: A Clinical Vignette

    Science.gov (United States)

    Zylstra, Robert G.; Miller, Karl E.; Stephens, Walter E.

    2000-01-01

    Munchausen syndrome by proxy is the act of one person fabricating or inducing an illness in another to meet his or her own emotional needs through the treatment process. The diagnosis is poorly understood and controversial. We report here the case of a 6-year-old boy who presented with possible pneumonia, nausea, vomiting, and diarrhea and whose mother was suspected of Munchausen syndrome by proxy. PMID:15014581

  13. Syndromic classification of rickettsioses: an approach for clinical practice

    Directory of Open Access Journals (Sweden)

    Álvaro A. Faccini-Martínez

    2014-11-01

    Full Text Available Rickettsioses share common clinical manifestations, such as fever, malaise, exanthema, the presence or absence of an inoculation eschar, and lymphadenopathy. Some of these manifestations can be suggestive of certain species of Rickettsia infection. Nevertheless none of these manifestations are pathognomonic, and direct diagnostic methods to confirm the involved species are always required. A syndrome is a set of signs and symptoms that characterizes a disease with many etiologies or causes. This situation is applicable to rickettsioses, where different species can cause similar clinical presentations. We propose a syndromic classification for these diseases: exanthematic rickettsiosis syndrome with a low probability of inoculation eschar and rickettsiosis syndrome with a probability of inoculation eschar and their variants. In doing so, we take into account the clinical manifestations, the geographic origin, and the possible vector involved, in order to provide a guide for physicians of the most probable etiological agent.

  14. Savant Syndrome: Clinical and Neuropsychological Features

    Directory of Open Access Journals (Sweden)

    Ibrahim Durukan

    2010-08-01

    Full Text Available Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Males outnumber females by an approximate 6 : 1 ratio in savant syndrome. Savant skills are limited to five general categories. These are music, art, calender calculating, mathematics and mechanical or spatial skills. Savant skills can also be divided into three as savants who have splinter skills, talented savants and prodigious savants. A remarkable memory welds to the special abilities determined in savant syndrome. Savant syndrome can be congenital or it can be acquired. Most often savant skills emerge in childhood, superimposed on some underlying developmental disability present at birth. However, acquired savant skills can also appear, when none were previously present, in neurotypical individuals following brain injury or disease later in infancy, childhood or adult life. Savant skills don’t depend on only rote memory. It is approved that an enhanced or spared ability to represent and manipulate highly organised domain-specific information. Various theoretic models were defined to explain the neuropsychological profile in savant syndrome. Interest in savants has a long history, stretching back to the early 18th century; nevertheless, the savant syndrome remains as much a mystery now as it did when it was first described. Given that many questions about the existence and nature of savant talent remain unanswered, it seems likely that research efforts will continue unabated.

  15. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

    Science.gov (United States)

    Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M; Clericuzio, Carol L; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie-Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vivienne; Medeira, Ana; Ozono, Keiichi; Patton, Michael; Rankin, Julia; Shears, Debbie; Simon, Marleen; Splitt, Miranda; Strenger, Volker; Stuurman, Kyra; Taylor, Clare; Titheradge, Hannah; Van Maldergem, Lionel; Temple, I Karen; Cole, Trevor; Seal, Sheila; Rahman, Nazneen

    2013-12-01

    Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve. © 2013 Wiley Periodicals, Inc.

  16. Paraneoplastic Neurological Syndromes: Clinical And Serological Studies

    NARCIS (Netherlands)

    S.G. Shamsili (Setareh)

    2011-01-01

    textabstractThe term “paraneoplastic syndromes” refers to symptoms or signs resulting from damage to organs or tissues that are remote from the site of a malignant neoplasm or its metastases. Paraneoplastic syndromes can affect most organs and tissues including the nervous system. Since the fi rst

  17. 'Dhat' syndrome--a useful clinical entity.

    Science.gov (United States)

    Bhatia, M S; Bohra, N; Malik, S C

    1989-06-01

    48 consecutive male patients of potency disorders were examined and classified as 'Dhat' syndrome, impotence or premature ejaculation. The age range of these cases was found as 20-38 years (mean 23.5 +/- 3.3 years) while age of onset was 16-24 years (mean 20.6 +/- 4.5 years). Majority of cases were unmarried (54.2%) and educated 5th class or above (79.1%). 31 cases (64.6%) had Dhat syndrome with or without impotency and/or premature ejaculation while 7 cases (14.6%) had only premature ejaculation and 10 cases (20.8%) only impotence. The cases with 'Dhat' syndrome or with impotence scored maximally on neuroticism and depression scales. Neurotic depression was the commonest associated psychiatric illness (39.5%) followed by anxiety neurosis (20.8%) while 31.3% did not have any possible diagnosis. The common presenting symptoms of 'Dhat' syndrome include weakness (70.8%), fatigue (68.7%), palpitations (68.7%), sleeplessness (62.4%) etc. Among the four groups on the basis of type of treatment (antianxiety drug, antidepressant, placebo, psychotherapy), the best response was seen in those receiving antianxiety or antidepressant drugs while those receiving psychotherapy showed minimal response. 7 cases (14.6%) dropped out of treatment and the maximum dropout (40.6%) was seen in psychotherapy group.

  18. Cyclic Cushing's syndrome : a clinical challenge

    NARCIS (Netherlands)

    Meinardi, J. R.; Wolffenbuttel, B. H. R.; Dullaart, R. P. F.

    Cyclic Cushing's syndrome (CS) is a rare disorder, characterized by repeated episodes of cortisol excess interspersed by periods of normal cortisol secretion. The so-called cycles of hypercortisolism can occur regularly or irregularly with intercyclic phases ranging from days to years. To formally

  19. Clinical and Molecular Genetic Features of Autoinflammatory Syndromes in Children

    Directory of Open Access Journals (Sweden)

    Е. I. Alexeeva

    2015-01-01

    Full Text Available Objective: Our aim was to study the prevalence and clinical features of autoinflammatory syndromes among patients with systemic juvenile idiopathic arthritis. Methods: A prospective nonrandomized study was conducted. All its members have been studied for mutations in TNFRSF1A and NLRP3 genes by the sequencing method. Results: 90 children (27 boys, 63 girls aged from 1 to 17 (average age 8.2 years, with a guide diagnosis: «Systemic juvenile idiopathic arthritis», were examined. As a result, 10 (14% patients showed mutations in TNFRSF1A gene, leading to the development of TRAPS-syndrome (8 had the most common mutation of R92Q; 3 — not previously described mutations in NLRP3 gene. 2 patients had the diagnosis of CINCA/NOMID Syndrome, 1 — Muckle–Wells Syndrome. In three cases, mutations leading to the development of TRAPS-syndromethe were identified in the first line of descent. Classical examples of autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS, and tumor necrosis factor receptor associated periodic syndrome (TRAPS. The data about their pathogenesis, clinical features, diagnosis and treatment is presented. Conclusion: It is shown that early detection and adequate treatment of patients with autoinflammatory syndromes, characterized by severe disease and serious prognosis, is difficult due to lack of awareness of pediatricians and unavailability of genetic diagnosis of these syndromes. The necessity of the development of a universal model of the diagnostic algorithm for identification of autoinflammatory syndromes using next-generation sequencing technologies is grounded. 

  20. Down syndrome in black South African infants and children - clinical ...

    African Journals Online (AJOL)

    S Afr Med J 1997; 87: 992-995. Down syndrome (OS), the commonest cause ... derived from Jones" were documented, as well as other clinical features considered to be .... Table I. Clinical features of OS infants and children, derived from Jones," compared with other reported studies (%). Present study. Black. Black. Oriental.

  1. Personality Disorders and Clinical Syndromes in ADHD Prisoners

    Science.gov (United States)

    Gudjonsson, Gisli H.; Wells, June; Young, Susan

    2012-01-01

    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  2. Early clinical manifestations of Sézary syndrome

    DEFF Research Database (Denmark)

    Mangold, Aaron R; Thompson, Agnieszka K; Davis, Mark D

    2017-01-01

    BACKGROUND: Classic Sézary syndrome (SS) is defined by erythroderma, generalized lymphadenopathy, and leukemic blood involvement. Clinical observations suggest that SS begins as a nonerythrodermic disease. OBJECTIVE: To describe the early clinical characteristics of patients with SS. METHODS: A r...

  3. Cauda equina syndrome: evaluation of the clinical outcome.

    Science.gov (United States)

    Tamburrelli, F C; Genitiempo, M; Bochicchio, M; Donisi, L; Ratto, C

    2014-01-01

    Cauda equina syndrome is a rare but highly impairing syndrome involving lower limbs as well as urinary, defecatory and sexual function. In the literature the most investigated sphincter dysfunction is the urinary. Bowel and sexual function are often overlooked since they become more relevant after the acute phase. Eight consecutive male patients affected by cauda equina syndrome with sphincter dysfunction due to herniated disc disease of lumbar spine were treated between 2007 and 2009. Five patients were followed-up for at least two years. Sexual function was evaluated by IIEF-5 questionnaire; bowel function was investigated by means of clinical and instrumental investigation and manometry. Although little clinical improved, patients still complained severe symptoms at first year follow-up while all but one improved significantly in the following year. At two years follow-up only the patient whose cauda equina syndrome was misdiagnosed and surgically treated late respect to the onset of the syndrome, complained a persistent severe sexual and bowel dysfunction. Our results show that a long-term follow-up is mandatory to evaluate the real outcome of surgical managed cauda equine syndrome because short-term evaluation could be misleading about the residual capacity of late neurologic improving. Despite the relatively low number of cases evaluated, our results confirm that early diagnosing and treating the syndrome are relevant for the final outcome.

  4. [Clinical-instrumental dissociation in a case of Reye's syndrome].

    Science.gov (United States)

    Chiaretti, A; Piastra, M; Castorina, M; Tortorolo, L; Valentini, P; Polidori, G

    1994-01-01

    We report the case of a boy 5 years old we admitted to our PICU with signs of impending hepatic failure (hypertransaminasemia, hyperammonemia, prolonged PT) following mild upper respiratory infection and irrepressible vomiting. We observed no neurological abnormalities excepting slight lethargy; on the contrary, EEG findings showed severe diffuse slowing and high-voltage Delta activity. Our diagnosis of Reye's syndrome was later confirmed by liver biopsy. Clinical and electrophysiological signs recovered after 48-72 hours and no explication was found for this anomalous Reye's syndrome presentation. Further studies are needed for understanding the basis of neurological involvement of stage I Reye's syndrome.

  5. Clinical Syndromes Associated with Cardiovascular Diseases: A Review

    Directory of Open Access Journals (Sweden)

    Xing Sheng Yang, MD, PhD, FACC, FAHA

    2017-02-01

    Full Text Available In clinical practice, a variety of syndromes are associated with cardiovascular disease and have characteristic findings. Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities, including electrocardiographic conduction defects, arrhythmias, cardiomyopathy, vascular and valvular diseases, cardiac septal defects, and pulmonary problems. There is a growing need for physicians to pay more attention to these syndromes.

  6. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  7. [Clinical immunological diagnostics of overlap syndrome during autoimmune hepatic disorders].

    Science.gov (United States)

    Sagynbaeva, V É; Lazebnik, L B; Gudkova, R B; Efremov, L I; Vinnitskaia, E V; Dorofeev, A S

    2014-01-01

    The complex determination of serum autoantibodies to hepatic antigens using enzyme immunoassay and immunoblot allows to increase the frequency of overlap syndrome identification during autoimmune hepatic disorders and its early diagnostics, that has a big clinical, diagnostic and prognostic importance. The levels of overlap autoantibodies combine with biochemical index and with disease activity and intensity of autoimmune processes during overlap syndrome of primary biliary cirrhosis/autoimmune hepatitis (PBC/AIH).

  8. Clinical predictors of lacunar syndrome not due to lacunar infarction

    Directory of Open Access Journals (Sweden)

    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  9. Clinical classification and treatment of cubital tunnel syndrome.

    Science.gov (United States)

    Qing, Cui; Zhang, Jianhua; Wu, Shidong; Ling, Zhao; Wang, Shuanchi; Li, Haoran; Li, Haiqing

    2014-11-01

    The aim of the present study was to investigate a new clinical classification of cubital tunnel syndrome that provides an improved basis for the clinical diagnosis and treatment of the disease. Retrospective analysis was performed on 341 patients with cubital tunnel syndrome. Based on the etiology, signs and symptoms, neurophysiological tests and computed tomography (CT) imaging, a new clinical classification was proposed. The patients enrolled in the study were treated according to the new classification. According to the new classification, cubital tunnel syndrome cases were divided into types I-IV. Treatment for patients with type I consisted of rest, immobilization or physiotherapy, while patients with type II received simple ulnar neurolysis. Type III patients underwent ulnar neurolysis with expansion of the ulnar nerve sulcus or ulnar nerve anterior transposition surgery. Type IV patients represented a subgroup of cubital tunnel syndrome cases caused by factors other than degenerative joint diseases, including cysts, tumors, traumatic fracture, deformity and elbow deformity. Patients of this type received appropriate surgical treatment according to the specific etiology. Based on previous classifications that relied on sensation and strength symptoms, a new clinical classification of elbow tunnel syndrome has been established in the present study that adopts a CT imaging evaluation index. The new classification is reasonable, simple and practical, and therapies based on this classification are more targeted than those based on previous classifications.

  10. Joubert syndrome: Clinical manifestations and magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seung Cheol; Kim, In One; Yoon, Yong Kyu; Yeon, Kyung Mo; Kim, Woo Sun; Song, Jong Gi; Hwang, Yong Seung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1994-05-15

    Joubert syndrome presents neonatal respiratory abnormalities and other clinical manifestations. Pathologically the patients show hypoplasia or agenesis of cerebellar vermis and other intracranial anomalies. Our purpose is to evaluate the clinical manifestations and MR findings of Joubert syndrome. Among the patient presenting with clinical stigmata of Joubert syndrome and agenesis of vermis on MR imaging, eight patients who did not satisfied the criteria of Dandy-Walker malformation, tectocerebellar dysraphia and rhombencephalosynapsis were selected. MR findings and clinical manifestation were analyzed. On MR imaging, agenesis of the cerebellar vermis (all cases), hypoplasia of the cerebellar peduncle (6 cases), fourth ventricular contour deformity (6 cases), tentorial elevation (4 caes), deformity of the lateral ventricles (4 cases), dysgenesis of the straight sinus (3 cases) were demonstrated. Other findings were abnormalities of corpus callosum (3 cases), falx anomalies (3 case), occipital encephalomeningocele (2 cases) and fluid collection in posterior cranial fossa (2 cases). Clinical manifestations were developmental delay (5 cases), abnormal eyeball movement (3 cases), hypotonia (2 cases), neonatal respiratory abnormality (2 cases), etc. Joubert syndrome showed various clinical manifestations and intracranial anomalies. MR imaging is an useful modality in detection of the cerebellar vermian agenesis and other anomalies of the patients.

  11. Secondary Hemophagocytic Syndrome: The Importance of Clinical Suspicion

    Directory of Open Access Journals (Sweden)

    Cristina Oliveira

    2014-01-01

    Full Text Available Hemophagocytic syndrome is a rare and potentially fatal disorder characterized by pathological immune activation associated with a primary familial disorder, genetic mutations, or occurring as a sporadic condition. The latter can be secondary to infections, malignancies, or autoimmune diseases. Clinically, patients present signs of severe inflammation, with unremitting fever, cytopenias, spleen enlargement, phagocytosis of bone marrow elements, hypertriglyceridemia, and hypofibrinogenemia. Increased suspicion is determinant to timely initiate treatment in an attempt to alter the natural history. The authors present three clinical cases of this syndrome, with a brief review of the diagnostic criteria and treatment.

  12. The changing clinical pattern of Reye's syndrome 1982-1990.

    Science.gov (United States)

    Hardie, R M; Newton, L H; Bruce, J C; Glasgow, J F; Mowat, A P; Stephenson, J B; Hall, S M

    1996-05-01

    To describe trends in the clinical pattern of Reye's syndrome in the British Isles between 1982 and 1990; and to determine the relation between any changes and the June 1986 warnings against the use of aspirin in children. Development, and application to reported cases, of a scoring system designed such that patients showing the typical clinical and pathological features of 'classical' Reye's syndrome scored highly. The relations between 'Reye scores' and a number of explanatory variables were explored using multivariable analysis. British Isles. 445 cases fulfilling the Reye's syndrome case definition reported to the surveillance scheme between January 1982 and December 1990. Individual 'Reye score'. Cases with high scores were more likely to have occurred in the 4 1/2 year period before June 1986 compared with the subsequent period (p Reye's syndrome after the aspirin warnings cannot be explained entirely, as has been proposed, by improved diagnosis of 'Reye-like' inherited metabolic and other disorders: this would not account for the greater decline of the high scoring subgroup which also contained those cases most likely to resemble 'classical' Reye's syndrome and to have received aspirin. This study provides further evidence for the role of aspirin in a subset of cases meeting the standard diagnostic criteria for Reye's syndrome and supports the need to consider this disorder as a heterogeneous group of conditions including Reye-like inherited metabolic disorders.

  13. Carpal tunnel syndrome - anatomical and clinical correlations.

    Science.gov (United States)

    Iskra, Tomasz; Mizia, Ewa; Musial, Agata; Matuszyk, Aleksandra; Tomaszewski, Krzysztof A

    2013-01-01

    Carpal tunnel syndrome (CTS) is the most common and widely known of the entrapment neuropathies in which the body's peripheral nerves are compressed. Common symptoms of CTS involve the hand and result from compression of the median nerve within the carpal tunnel. In general, CTS develops when the tissues around the median nerve irritate or compress on the nerve along its course through the carpal tunnel, however often it is very difficult to determine cause of CTS. Proper treatment (conservative or surgical) usually can relieve the symptoms and restore normal use of the wrist and hand.

  14. A Rare Clinical Condition: Erasmus Syndrome

    Directory of Open Access Journals (Sweden)

    Yunus Ugan

    2016-07-01

    Full Text Available Systemic sclerosis (SS is a systemic autoimmune disease progressing with fibrosis of the skin and internal organs, the cause of which cannot be precisely explained. The disease is known to be associated with environmental factors. In particular, exposure to silica powders is believed to have a part in the pathogenesis of the disease by the triggering of a number of immune reactions. Silicosis and SS association is defined as Erasmus Syndrome (ES. Here, we report on a 30-year-old patient working in denim sandblasting who developed SS while being followed for 6 years due to silicosis.

  15. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

    Science.gov (United States)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Sakurai, Masahiro; Cavé, Hélène; Verloes, Alain; Nishio, Kimio; Ohashi, Hirofumi; Kurosawa, Kenji; Okamoto, Nobuhiko; Kawame, Hiroshi; Mizuno, Seiji; Kondoh, Tatsuro; Addor, Marie-Claude; Coeslier-Dieux, Anne; Vincent-Delorme, Catherine; Tabayashi, Koichi; Aoki, Masashi; Kobayashi, Tomoko; Guliyeva, Afag; Kure, Shigeo; Matsubara, Yoichi

    2008-01-01

    Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS have been identified in patients with NS and those in KRAS, BRAF and MAP2K1/2 have been identified in patients with CFC syndrome, establishing a new role of the RAS/MAPK pathway in human development. Recently, mutations in the son of sevenless gene (SOS1) have also been identified in patients with NS. To clarify the clinical spectrum of patients with SOS1 mutations, we analyzed 24 patients with NS, including 3 patients in a three-generation family, and 30 patients with CFC syndrome without PTPN11, KRAS, HRAS, BRAF, and MAP2K1/2 (MEK1/2) mutations. We identified two SOS1 mutations in four NS patients, including three patients in the above-mentioned three-generation family. In the patients with a CFC phenotype, three mutations, including a novel three amino-acid insertion, were identified in one CFC patient and two patients with both NS and CFC phenotypes. These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome.

  16. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  17. Clinical Manifestations of Hyper IgE Syndromes

    Directory of Open Access Journals (Sweden)

    Alexandra F. Freeman

    2010-01-01

    Full Text Available Over the last 4 years, three genetic etiologies of hyper IgE syndromes have been identified: STAT3, DOCK8, and Tyk2. All of these hyper IgE syndromes are characterized by eczema, sinopulmonary infections, and greatly elevated serum IgE. However, each has distinct clinical manifestations. Mutations in STAT3 cause autosomal dominant HIES (Job’s syndrome, which is unique in its diversity of connective tissue, skeletal, and vascular abnormalities. DOCK8 deficiency is characterized by severe cutaneous viral infections such as warts, and a predisposition to malignancies at a young age. Only one individual has been identified with a hyper IgE phenotype associated with Tyk2 deficiency, which is characterized by nontuberculous mycobacterial infection. The identification of these genetic etiologies is leading to advances in understanding the pathogenesis of these syndromes with the goal of improving treatment.

  18. Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation

    Directory of Open Access Journals (Sweden)

    Jonathan Hussain DO

    2016-02-01

    Full Text Available We present the unique case of adult hyperinsulinism hyperammonemia syndrome (HI/HA. This condition is rarely seen in children and even more infrequently in adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures, staring spells, and gastroesophageal reflux disease presented with diffuse abdominal pain, hypoglycemia, confusion, and sweating. She reported a history of significant nausea, vomiting, and diarrhea, which had been present intermittently over the past year. On examination, she was found to have a soft, nontender, and mildly distended abdomen without splenomegaly or masses. She had a normal blood pressure and was tachycardic (130 bpm. Her initial complete blood count and basic metabolic panel, excluding glucose, were within normal limits. She was found to have an elevated peripherally drawn venous ammonia (171 mmol/L and near hypoglycemia (blood glucose 61 mg/dL, which were drawn given her history of HI/HA. She was continued on home carglumic acid and diazoxide, glucose was supplemented intravenously, and she was started on levetiracetam for seizure prophylaxis. An upper endoscopy (esophagogastroduodenoscopy [EGD] was performed and was unremarkable, and biopsies taken were within normal limits. Following the EGD, she underwent a gastric emptying study that showed delayed emptying (216 minutes, consistent with a new diagnosis of gastroparesis, the likely etiology of her initial abdominal pain on presentation. This was subsequently treated with azithromycin oral solution. We present this case to raise awareness of this rarely encountered syndrome and to provide the basic principles of treatment.

  19. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome

    National Research Council Canada - National Science Library

    Zhang, Kaihui; Liu, Shu; Feng, Bing; Yang, Yali; Zhang, Haiyan; Dong, Rui; Liu, Yi; Gai, Zhongtao

    2016-01-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3...

  20. Rapid clinical deterioration in an individual with Down syndrome.

    Science.gov (United States)

    Jacobs, Julia; Schwartz, Alison; McDougle, Christopher J; Skotko, Brian G

    2016-07-01

    A small percentage of adolescents and young adults with Down syndrome experience a rapid and unexplained deterioration in cognitive, adaptive, and behavioral functioning. Currently, there is no standardized work-up available to evaluate these patients or treat them. Their decline typically involves intellectual deterioration, a loss of skills of daily living, and prominent behavioral changes. Certain cases follow significant life events such as completion of secondary school with friends who proceed on to college or employment beyond the individual with DS. Others develop this condition seemingly unprovoked. Increased attention in the medical community to clinical deterioration in adolescents and young adults with Down syndrome could provide a framework for improved diagnosis, evaluation, and treatment. This report presents a young adult male with Down syndrome who experienced severe and unexplained clinical deterioration, highlighting specific challenges in the systematic evaluation and treatment of these patients. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  1. Expanded clinical spectrum of enhanced S-cone syndrome

    NARCIS (Netherlands)

    Yzer, Suzanne; Barbazetto, Irene; Allikmets, Rando; van Schooneveld, Mary J.; Bergen, Arthur; Tsang, Stephen H.; Jacobson, Samuel G.; Yannuzzi, Lawrence A.

    2013-01-01

    New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene. Retrospective, noncomparative case series of 31 patients examined

  2. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes

    NARCIS (Netherlands)

    Trip, J.; Drost, G.; Ginjaar, H.B.; Nieman, F.H.M.; van der Kooi, A.J.; de Visser, M.; van Engelen, B.G.M.; Faber, C.G.

    2009-01-01

    Objective: To redefine phenotypical characteristics for both chloride (CICh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM). Methods: In a cross-sectional, nationwide study, standardised interviews and clinical bedside tests were performed in 62 genetically confirmed

  3. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

    NARCIS (Netherlands)

    Trip, J.; Drost, G.; Ginjaar, H.B.; Nieman, F.H.; Kooi, A.J. van der; Visser, M. de; Engelen, B.G.M. van; Faber, C.G.

    2009-01-01

    OBJECTIVE: To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM). METHODS: In a cross-sectional, nationwide study, standardised interviews and clinical bedside tests were performed in 62 genetically confirmed

  4. Clinical and molecular phenotype of Aicardi-Goutieres syndrome

    NARCIS (Netherlands)

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A.; Barroso, Bruno; Baxter, Peter; Benko, Willam S.; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M.; Blau, Nenad; Bonthron, David T.; Briggs, Tracy; Brueton, Louise A.; Brunner, Han G.; Burke, Christopher J.; Carr, Ian M.; Carvalho, Daniel R.; Chandler, Kate E.; Christen, Hans-Juergen; Corry, Peter C.; Cowan, Frances M.; Cox, Helen; D'Arrigo, Stefano; Dean, John; De laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D.; Flintoff, Kim; Frints, Suzanna G. M.; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J.; Gueet, Agnes; Hamel, Ben C. J.; Hayward, Bruce E.; Heiberg, Arvid; Hennekam, Raoul C.; Husson, Marie; Jackson, Andrew P.; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G.; Kao, Amy; King, Mary D.; Kingston, Helen M.; Klepper, Joerg; van der Knaap, Marjo S.; Kornberg, Andrew J.; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J.; Livingston, John H.; Lourenco, Charles M.; Lyall, E. G. Hermione; Lynch, Sally A.; Lyons, Michael J.; Marom, Daphna; McClure, John P.; McWilliam, Robert; Melancon, Serge B.; Mewasingh, Leena D.; Moutard, Marie-Laure; Nischal, Ken K.; Ostergaard, John R.; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R. Curtis; Roland, Dominique; Rosser, Elisabeth M.; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Buergi, Sabine; Seal, Sunita; Shalev, Stavit A.; Corcoles, C. Sierra; Sinha, Gyan P.; Soler, Doriette; Spiegel, Ronen; Stephenson, John B. P.; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N. A.; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S. H.; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L.; Willemsen, Michel A. A.; Zankl, Andreas; Zuberi, Sameer M.; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J.

    2007-01-01

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-> 5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease

  5. Chronic Fatigue Syndrome in Adolescents: treatment, clinical features and epidemiology

    NARCIS (Netherlands)

    Nijhof, S.L.

    2013-01-01

    This thesis describes the treatment, epidemiology and clinical features of the adolescent chronic fatigue syndrome (CFS). Fatigue is a common complaint among adolescents, with a reported incidence of up to 20% in girls. This fatigue however is not chronic, does not debilitate and has an identifiable

  6. Metabolic Syndrome in Patients attending the Staff Clinic of a ...

    African Journals Online (AJOL)

    Background/objective: Metabolic syndrome (MetS) is characterised by a clustering of cardiometabolic risk factors. It contributes to morbidity and mortality in adults. The objective of the study was to identify new cases and associated factors of MetS in patients attending a tertiary hospital staff clinic. Materials and methods: The ...

  7. Clinical and molecular phenotype of Aicardi-Goutieres syndrome

    NARCIS (Netherlands)

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A.; Barroso, Bruno; Baxter, Peter; Benko, Willam S.; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M.; Blau, Nenad; Bonthron, David T.; Briggs, Tracy; Brueton, Louise A.; Brunner, Han G.; Burke, Christopher J.; Carr, Ian M.; Carvalho, Daniel R.; Chandler, Kate E.; Christen, Hans-Jurgen; Corry, Peter C.; Cowan, Frances M.; Cox, Helen; D'Arrigo, Stefano; Dean, John; de Laet, Corinne; de Praeter, Claudine; Dery, Catherine; Ferrie, Colin D.; Flintoff, Kim; Frints, Suzanna G. M.; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J.; Guet, Agnes; Hamel, Ben C. J.; Hayward, Bruce E.; Heiberg, Arvid; Hennekam, Raoul C.; Husson, Marie; Jackson, Andrew P.; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G.; Kao, Amy; King, Mary D.; Kingston, Helen M.; Klepper, Joerg; van der Knaap, Marjo S.; Kornberg, Andrew J.; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J.; Livingston, John H.; Lourenco, Charles M.; Lyall, E. G. Hermione; Lynch, Sally A.; Lyons, Michael J.; Marom, Daphna; McClure, John P.; McWilliam, Robert; Melancon, Serge B.; Mewasingh, Leena D.; Moutard, Marie-Laure; Nischal, Ken K.; Ostergaard, John R.; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R. Curtis; Roland, Dominique; Rosser, Elisabeth M.; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A.; Corcoles, C. Sierra; Sinha, Gyan P.; Soler, Doriette; Spiegel, Ronen; Stephenson, John B. P.; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; van Coster, Rudy N. A.; van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S. H.; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L.; Willemsen, Michel A. A.; Zankl, Andreas; Zuberi, Sameer M.; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J.

    2007-01-01

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease

  8. Clinical and molecular phenotype of Aicardi-Goutieres syndrome

    DEFF Research Database (Denmark)

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha

    2007-01-01

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease com...

  9. Clinical features and respiratory complications in Myhre syndrome

    NARCIS (Netherlands)

    McGowan, Ruth; Gulati, Ramkumar; McHenry, Pamela; Cooke, Alexander; Butler, Sandra; Keng, Wee Teik; Murday, Victoria; Whiteford, Margo; Dikkers, Frederik G.; Sikkema-Raddatz, Brigit; van Essen, Ton; Tolmie, John

    2011-01-01

    We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features

  10. Clinical aspects and prognosis of Brugada syndrome in children

    NARCIS (Netherlands)

    Probst, Vincent; Denjoy, Isabelle; Meregalli, Paola G.; Amirault, Jean-Christophe; Sacher, Frederic; Mansourati, Jacques; Babuty, Dominique; Villain, Elisabeth; Victor, Jacques; Schott, Jean-Jacques; Lupoglazoff, Jean-Marc; Mabo, Philippe; Veltmann, Christian; Jesel, Laurence; Chevalier, Philippe; Clur, Sally-Ann B.; Haissaguerre, Michel; Wolpert, Christian; Le Marec, Herve; Wilde, Arthur A. M.

    2007-01-01

    BACKGROUND: Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads and augmented risk of sudden cardiac death. Little is known about the clinical presentation and prognosis of this disease in children. METHODS AND RESULTS:

  11. Silent angels the genetic and clinical aspects of Rett syndrome

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    Dziwota Ewelina

    2016-12-01

    Full Text Available Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.

  12. Prevention, clinical, and pathophysiological research on vibration syndrome.

    Science.gov (United States)

    Yamada, S; Sakakibara, H; Harada, N; Matsumoto, T

    1993-11-01

    In the 1950s, introduction of portable power tools into the production process of many industries began on a large scale around the world and resulted in many cases of occupational vibration syndrome after the 1960s. There was an urgent need to undertake preventive steps, medical assessment and therapy throughout the world. At the end of 1964, our investigation began in Japanese national forests, and then in mining and stone quarries. Our research and efforts resulted in a comprehensive system for prevention of vibration syndrome in the Japanese national forest industry. It has presented a good model of prevention for other industries in Japan. Clinical and pathophysiological research on vibration syndrome in the 1960s and 1970s clarified disturbances of the peripheral circulatory, nervous, and musculoskeletal systems. From the mid-1970s, neurophysiological, neurochemical, and clinical research on vibration syndrome in relation to the autonomic nervous system developed. Our studies contributed to the advancement of research in this field. More in-depth study is needed to determine the role of the autonomic nervous system in vibration syndrome.

  13. Drug-induced Brugada syndrome: Clinical characteristics and risk factors.

    Science.gov (United States)

    Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami

    2016-05-01

    Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The purpose of this study was to identify clinical and ECG risk markers for drug-induced Brugada syndrome. Reports of drug-induced Brugada syndrome recounted by an international database (http://www.brugadadrugs.org) were reviewed to define characteristics that identify patients prone to developing this complication. For each patient with drug-induced Brugada syndrome who had an ECG recorded in the absence of drugs, we included 5 healthy controls matched by gender and age. All ECGs were evaluated for Brugada-like abnormalities. Seventy-four cases of drug-induced Brugada syndrome from noncardiac medications were identified: 77% were male, and drug toxicity was involved in 46%. Drug-induced Brugada syndrome from oral medications generally occurred weeks after the initiation of therapy. Mortality was 13%. By definition, all cases had a type I Brugada pattern during drug therapy. Nevertheless, their ECG in the absence of drugs was more frequently abnormal than the ECG of controls (56% vs 33%, P = .04). Drug-induced Brugada syndrome from noncardiac drugs occurs predominantly in adult males, is frequently due to drug toxicity, and occurs late after the onset of therapy. Minor changes are frequently noticeable on baseline ECG, but screening is impractical because of a prohibitive false-positive rate. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  14. Spine deformities in rare congenital syndromes: clinical issues.

    Science.gov (United States)

    Campbell, Robert M

    2009-08-01

    early onset scoliosis that is very rigid and requires early intervention. Cervical kyphosis and subluxation may be lethal in these patients and screening radiographs are important. Upper airway abnormalities are an anesthesia concern. Jarcho-Levin syndrome is a thoracic volume depletion deformity due to shortness of the thorax, either a spondylocostal dysostosis variant or spondylothoracic dysplasia. The former has a chaotic congenital scoliosis with varied combination of missing and fused ribs. Although spondylocostal dysostosis has a benign reputation in the literature for respiratory complications, respiratory insufficiency is nevertheless common and 1 death is known from respiratory failure. Spondylothoracic dysplasia seldom has significant scoliosis, but has a mortality rate approaching 50% from respiratory complications due to thoracic insufficiency syndrome. In spite of severe restrictive respiratory disease, adult survivors of spondylothoracic dysplasia appear to do well clinically for unknown reasons. Cerebrocostomandibular syndrome has scoliosis, micrognathia, and thoracic insufficiency syndrome, due to an "implosion" deformity of the thorax from congenital pseudarthrosis of the posterior ribs. For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.

  15. Spinal cord ischemia: aetiology, clinical syndromes and imaging features

    Energy Technology Data Exchange (ETDEWEB)

    Weidauer, Stefan [Frankfurt Univ., Sankt Katharinen Hospital Teaching Hospital, Frankfurt am Main (Germany). Dept. of Neurology; Hattingen, Elke; Berkefeld, Joachim [Frankfurt Univ., Frankfurt am Main (Germany). Inst. of Neuroradiology; Nichtweiss, Michael

    2015-03-01

    The purpose of this study was to analyse MR imaging features and lesion patterns as defined by compromised vascular territories, correlating them to different clinical syndromes and aetiological aspects. In a 19.8-year period, clinical records and magnetic resonance imaging (MRI) features of 55 consecutive patients suffering from spinal cord ischemia were evaluated. Aetiologies of infarcts were arteriosclerosis of the aorta and vertebral arteries (23.6 %), aortic surgery or interventional aneurysm repair (11 %) and aortic and vertebral artery dissection (11 %), and in 23.6 %, aetiology remained unclear. Infarcts occurred in 38.2 % at the cervical and thoracic level, respectively, and 49 % of patients suffered from centromedullar syndrome caused by anterior spinal artery ischemia. MRI disclosed hyperintense pencil-like lesion pattern on T2WI in 98.2 %, cord swelling in 40 %, enhancement on post-contrast T1WI in 42.9 % and always hyperintense signal on diffusion-weighted imaging (DWI) when acquired. The most common clinical feature in spinal cord ischemia is a centromedullar syndrome, and in contrast to anterior spinal artery ischemia, infarcts in the posterior spinal artery territory are rare. The exclusively cervical location of the spinal sulcal artery syndrome seems to be a likely consequence of anterior spinal artery duplication which is observed preferentially here. (orig.)

  16. Clinical manifestations and clinical syndromes of Filipino patients with systemic lupus erythematosus.

    Science.gov (United States)

    Villamin, Charles A C; Navarra, Sandra V

    2008-01-01

    The aim of this study was to describe the presenting clinical manifestations and syndromes of Filipino patients on diagnosis of systemic lupus erythematosus (SLE). We performed a retrospective review of medical records of Filipino SLE patients included in the lupus database of the University of Santo Tomas (UST) in Manila, Philippines. All patients fulfilled the American College of Rheumatology criteria for SLE. The following data were recorded: (1) demographic profile, (2) clinical manifestations on SLE diagnosis, and (3) clinical syndromes prior to and during fulfillment of diagnostic criteria for SLE and disease interval from diagnosis of a clinical syndrome to SLE diagnosis. Clinical data of 1,070 patients entered into the UST lupus database as of October 2005 were analyzed. The average age at SLE diagnosis was 28.5 +/- 11.5 (range 5-71) years, with 1,025 female and 45 male subjects. The most common presenting manifestation was arthritis (68%), followed by malar rash (49%), renal involvement (47%), photosensitivity (33%), and oral ulcers (33%). The following clinical syndromes were recorded prior to or during SLE diagnosis: nephrotic syndrome (30%), undifferentiated connective tissue disease (UCTD) (22%), autoimmune hemolytic anemia (AIHA) (6%), and idiopathic thrombocytopenic purpura (ITP) (6%). Among these, AIHA preceded the diagnosis of SLE at the longest interval (20.3 +/- 30.6, range 1-194 months). In this large database of Filipino patients with SLE, the most common presenting manifestation was arthritis, with renal involvement occurring in almost 50%. Among the clinical syndromes, nephrotic syndrome was the most common, whereas AIHA recorded the longest interval preceding SLE diagnosis, at an average of 20.3 months. Our findings are similar to data from other countries and emphasize the broad range of manifestations of SLE. The findings also reinforce the need to establish and maintain SLE databases to enhance awareness, early diagnosis, and more

  17. Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates.

    Science.gov (United States)

    Mercer, Ben N; Begg, Gordon A; Page, Stephen P; Bennett, Christopher P; Tayebjee, Muzahir H; Mahida, Saagar

    2016-01-01

    The early repolarization (ER) pattern on the 12-lead electrocardiogram is characterized by J point elevation in the inferior and/or lateral leads. The ER pattern is associated with an increased risk of ventricular arrhythmias and sudden cardiac death (SCD). Based on studies in animal models and genetic studies, it has been proposed that J point elevation in ER is a manifestation of augmented dispersion of repolarization which creates a substrate for ventricular arrhythmia. A competing theory regarding early repolarization syndrome (ERS) proposes that the syndrome arises as a consequence of abnormal depolarization. In recent years, multiple clinical studies have described the characteristics of ER patients with VF in more detail. The majority of these studies have provided evidence to support basic science observations. However, not all clinical observations correlate with basic science findings. This review will provide an overview of basic science and genetic research in ER and correlate basic science evidence with the clinical phenotype.

  18. A Clinic Model: Post-Intensive Care Syndrome and Post-Intensive Care Syndrome-Family.

    Science.gov (United States)

    Huggins, Elizabeth L; Bloom, Sarah L; Stollings, Joanna L; Camp, Mildred; Sevin, Carla M; Jackson, James C

    2016-01-01

    The number of patients surviving critical illness in the United States has increased with advancements in medicine. Post-intensive care syndrome and post-intensive care syndrome-family are terms developed by the Society of Critical Care Medicine in order to address the cognitive, psychological, and physical sequelae emerging in patients and their families after discharge from the intensive care unit. In the United Kingdom and Europe, intensive care unit follow-up clinics have been used to address the complications of post-intensive care syndrome for some time. However, the interprofessional clinic at Vanderbilt University Medical Center is among the first in the United States to address the wide variety of problems experienced by intensive care survivors and to provide patients and their families with care after discharge from the intensive care unit.

  19. Clinical Features of Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Jui-Lung Yen

    2006-01-01

    Conclusion: The results of this study emphasize the importance of echocardiographic monitoring of aortic size and valvular condition, and assessment of bone mineral density in patients with EDS. Clinical evaluation and counseling should be undertaken prior to pregnancy in patients with EDS because of the risk from labor and vaginal delivery in patients with type IV and the inability to distinguish EDS subtypes in Taiwan due to the unavailability of biochemical assay or molecular mutation analysis as part of standard care.

  20. Cardiorenal Syndrome: An Unsolved Clinical Problem

    Directory of Open Access Journals (Sweden)

    Paula Martínez-Santos

    2011-01-01

    Full Text Available The clinical relevance of the bidirectional cross-talk between heart and kidney is increasingly recognized. However, the optimal approach to the management of kidney dysfunction in heart failure remains unclear. The purpose of this article is to outline the most plausible pathophysiologic theories that attempt to explain the renal impairment in acute and chronic heart failure, and to review the current treatment strategies for these situations.

  1. Clinical recognition of mid-aortic syndrome in children.

    Science.gov (United States)

    ten Dam, Kim; van der Palen, Roel L F; Tanke, Ronald B; Schreuder, Michiel F; de Jong, Huib

    2013-03-01

    Mid-aortic syndrome is characterized by narrowing of the abdominal aorta, usually with the involvement of renal arteries and other visceral branches. The combination of the presence of an abdominal bruit, diminished or absent pulsations of the lower extremities, and a blood pressure discrepancy between upper and lower extremities is the classic triad associated with mid-aortic syndrome. However, it has a wide variety of clinical symptoms, and awareness of the variable presentation can lead to early diagnosis of the vascular anomaly. We report three cases presenting at three different stages of this disease, such as hydrops fetalis, refractory hypertension, and intracerebral bleeding. In conclusion, these cases highlight the importance of blood pressure measurements in all patients and accurate physical examination for early recognition of a mid-aortic syndrome.

  2. HIV-associated Lipodystrophy Syndrome: A Review of Clinical Aspects

    Directory of Open Access Journals (Sweden)

    Jean-Guy Baril

    2005-01-01

    Full Text Available Approximately two years after the introduction of highly active antiretroviral therapy for the treatment of HIV infection, body shape changes and metabolic abnormalities were increasingly observed. Initially, these were ascribed to protease inhibitors, but it is now clear that nucleoside reverse transcriptase inhibitors also contribute to lipodystrophy syndrome. The syndrome groups together clinical conditions describing changes in body fat distribution that include lipoatrophy, lipoaccumulation or both. However, there does not appear to be a direct link between lipoatrophy and lipoaccumulation that would support a single mechanism for the redistribution of body fat. Currently, there is no clear definition of lipodystrophy, which explains the difficulty in determining its prevalence and etiology. There are no current guidelines for the treatment of fat distribution abnormalities that occur in the absence of other metabolic complications. The present article reviews the current state of knowledge of the definition, symptoms, risk factors, pathogenesis, diagnosis and treatment of the morphological changes associated with lipodystrophy syndrome.

  3. Conversion from clinically isolated syndrome to multiple sclerosis

    DEFF Research Database (Denmark)

    Kuhle, J; Disanto, G; Dobson, R

    2015-01-01

    BACKGROUND AND OBJECTIVE: We explored which clinical and biochemical variables predict conversion from clinically isolated syndrome (CIS) to clinically definite multiple sclerosis (CDMS) in a large international cohort. METHODS: Thirty-three centres provided serum samples from 1047 CIS cases with...... positivity was associated with higher EBNA-1 IgG titres. CONCLUSIONS: We validated MRI lesion load, OCB and age at CIS as the strongest independent predictors of conversion to CDMS in this multicentre setting. A role for vitamin D is suggested but requires further investigation....

  4. Clinical characterization of the HOXA1 syndrome BSAS variant

    Science.gov (United States)

    Bosley, T.M.; Salih, M.A.; Alorainy, I.A.; Oystreck, D.T.; Nester, M.; Abu-Amero, K.K.; Tischfield, M.A.; Engle, E.C.

    2010-01-01

    Background: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We describe the currently recognized spectrum of ocular motility, inner ear malformations, cerebrovascular anomalies, and cognitive function. Methods: We examined nine affected individuals from five consanguineous Saudi Arabian families, all of whom harbored the same I75-I76insG homozygous mutation in the HOXA1 gene. Patients underwent complete neurologic, neuro-ophthalmologic, orthoptic, and neuropsychological examinations. Six individuals had CT, and six had MRI of the head. Results: All nine individuals had bilateral Duane retraction syndrome (DRS) type 3, but extent of abduction and adduction varied between eyes and individuals. Eight patients were deaf with the common cavity deformity of the inner ear, while one patient had normal hearing and skull base development. Six had delayed motor milestones, and two had cognitive and behavioral abnormalities meeting Diagnostic and Statistical Manual of Mental Disorders-IV criteria for autism spectrum disorder. MRI of the orbits, extraocular muscles, brainstem, and supratentorial brain appeared normal. All six appropriately studied patients had cerebrovascular malformations ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis. Conclusions: This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population. Similarities between this syndrome and thalidomide embryopathy suggest that the teratogenic effects of early thalidomide exposure in humans may be due to interaction with the HOX cascade. PMID:17875913

  5. Clinical profile of patients with fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    Andrei Pereira Pernambuco

    Full Text Available Abstract Introduction: The new diagnostic criteria for fibromyalgia (FM include the presence of chronic, widespread pain associated with other symptoms such as fatigue, sleep disturbance, anxiety and depression. All these symptoms should be considered when thinking and clinical decision making of physiotherapists dealing with FM. However, it is clear that the other symptoms that accompany the pain are often neglected. Objective: To measure the levels of fatigue, sleep disturbances, anxiety and depression in patients with FM and compare them to levels found in healthy controls. Methods: Forty-six women diagnosed with FM and 30 healthy controls participated in the study. The levels of each of the symptoms were assessed by four validated questionnaires in Brazil (Piper Fatigue Scale - Revised, Pittsburgh Sleep Quality Index, Beck Anxiety Inventory and the Beck Depression Inventory. Statistical analysis was performed using GraphPad Prism software and all tests used a significance level of 5% (α = 0.05. Results: FM patients had significantly elevated levels of fatigue (p = 0.0005, sleep disturbances (p = 0.003, anxiety (p = 0.0012 and depression (p = 0.0003 compared to healthy controls. Symptoms fatigue and depression correlated strongly and positively with one another and with other symptoms evaluated. Conclusion: The other symptoms that comprise the clinical picture of FM need be considered not only in order to recover the health of patients, but above all in an attempt to preserve it and promote it.

  6. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

    Science.gov (United States)

    Greenhaw, G A; Hebert, A; Duke-Woodside, M E; Butler, I J; Hecht, J T; Cleaver, J E; Thomas, G H; Horton, W A

    1992-04-01

    Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair.

  7. Expanding the mutation and clinical spectrum of Roberts syndrome.

    Science.gov (United States)

    Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

    2016-07-01

    Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.

  8. Clinical characteristics of childhood guillain-barré syndrome.

    Science.gov (United States)

    Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim

    2008-07-01

    To find the incidence, clinical pattern and outcome of Guillain-Barre syndrome in the Sultanate of Oman in children less than 15 years of age. All children under fifteen years with acute flaccid paralysis were admitted to identify the underlying cause. The diagnosis of Gullain Barre syndrome was made by clinical criteria, cerebrospinal fluid findings and nerve conduction studies. Intravenous immunoglobulins were given to all and two needed plasmapharesis. Sixty-one children were diagnosed as Guillan-Barré syndrome and constituted 20% of cases of acute flaccid paralysis. Males 39 (63.9%) outnumbered females (36.1%).The annual incidence below 15 years was 0.45/100,000. Cranial nerves were involved in 31 (50.8%) children. Albumino-cytological dissociation in cerebrospinal fluid was seen in 42/45(93.3%) cases. Acute relapse was seen in six (9.8%) cases. Eleven children (18.3%) needed ventilation. Complete recovery was seen in 45 to 310 days (mean 69.1 days). Three children (4.9%) were left with minimal residual deficit. There was no mortality. Guillain Barre syndrome is a serious disease, although recovery is the rule in children. The disease is associated with very low mortality and long term morbidity. Immunoglobulins have reduced the duration of hospital stay and the total time needed for recovery.

  9. Moebius syndrome: clinical manifestations in a pediatric patient.

    Science.gov (United States)

    Lima, Luciana Monti; Diniz, Michele Baffi; dos Santos-Pinto, Lourdes

    2009-01-01

    Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved.

  10. Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.

    Science.gov (United States)

    Miyauchi-Hashimoto, H; Akaeda, T; Maihara, T; Ikenaga, M; Horio, T

    1998-10-01

    Although patients with mild symptoms of atypical Cockayne syndrome (CS) have been described, there has not been a report of a patient with CS whose only clinical manifestation was cutaneous photosensitivity. Cells from patients with CS show UV sensitivity, reduced recovery of RNA synthesis, but normal UV-induced unscheduled DNA synthesis. On the other hand, the patients with UV-sensitive syndrome have only cutaneous photosensitivity and skin freckles, whereas those cells respond to UV radiation in a similar fashion to the CS cells. We describe a patient with CS who showed only photosensitivity without typical clinical manifestations of CS, but his cells showed UV sensitivity, reduced recovery of RNA synthesis, and normal unscheduled DNA synthesis after UV radiation similar to CS cells. Furthermore, the patient was assigned to complementation group B of CS on the basis of the results of complementation analysis. The present report suggests that CS has a wider spectrum than that considered previously.

  11. Outcome Measures for Clinical Trials in Down Syndrome.

    Science.gov (United States)

    Esbensen, Anna J; Hooper, Stephen R; Fidler, Deborah; Hartley, Sigan L; Edgin, Jamie; d'Ardhuy, Xavier Liogier; Capone, George; Conners, Frances A; Mervis, Carolyn B; Abbeduto, Leonard; Rafii, Michael; Krinsky-McHale, Sharon J; Urv, Tiina; Group, Outcome Measures Working

    2017-05-01

    Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

  12. Clinical Features of Miller-Fisher Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Masanori Ono

    2015-01-01

    Full Text Available Miller-Fisher syndrome (MFS is recognized as a variant of Guillain-Barré syndrome (GBS. MFS is a rare disorder that is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia/hyporeflexia. MFS has a higher incidence in Asia, where the incidence is estimated to be 18%–26% of GBS compared with 3%–5% in the West. The differential diagnosis of MFS includes Wernicke’s encephalopathy (WE which is characterized by a clinical triad (nystagmus and ophthalmoplegia, mental status changes, and ataxia, myasthenia gravis, and brainstem stroke. The association between MFS and pregnancy has not been reported previously. Here, we describe the clinical features of a pregnant woman in early pregnancy with MFS. This case highlights the fact that it is necessary to establish an accurate diagnosis based on the details from the patient’s history on appropriate complementary testing in a pregnant patient with MFS.

  13. Lyell's syndrome and antimalarials: A case report and clinical review

    Directory of Open Access Journals (Sweden)

    Joana Miranda Nunes

    2017-01-01

    Full Text Available Toxic epidermal necrolysis (TEN or Lyell's syndrome is a rare, however, life-threatening mucocutaneous disorder with an epidermal detachment of a total body surface area (TBSA of >30%. It is triggered by an idiosyncratic immune-allergic reaction to a drug, with many possible drugs implicated. Treatment success relies on early diagnosis and withdrawal of suspected/causative drug(s and supportive care. Clinical evidence for specific therapies is still sparse. It is described a case of Lyell syndrome by sulfonamides for chemoprophylaxis of malaria. The patient presented with an extensive, rapidly evolving skin detachment, which progressed, despite supportive therapy, involving about 80% of TBSA. This led us to initiate a course of immunoglobulin with good clinical response. The aim of this work is to provide a discussion of the case and simultaneously make a practical literature review of TEN.

  14. Two clinically discrete syndromes of transsexualism.

    Science.gov (United States)

    Buhrich, N; McConaghy, N

    1978-07-01

    Transsexuals are defined as subjects who have a sustained feminine gender identity combined with a wish to alter their bodily appearance towards the feminine. The results of this study indicate that they can be differentiated into two clinically discrete groups. In an investigation of 29 transsexuals who sought a change of sex operation it was found that those who had experienced fetishistic arousal were significantly more likely to be older, to have experienced heterosexual intercourse, to be married and to show penile responses to pictures of men and women indicative of a more heterosexual orientation. They had less experience of homosexual contact to orgasm as compared transsexuals who had not experiennced fetishistic arousal , but this difference was not statistically significant. Frequency of cross-dressing, strenght of feminine gender identity and intensity of desire for a sex change operation did not discriminate the two groups. The fact that desire for a sex change operation may be associated with experience of fetishistic arousal could be one reason for the higher incidence transsexualism in men than in women.

  15. A clinical syndrome of mild androgen insensitivity.

    Science.gov (United States)

    Migeon, C J; Brown, T R; Lanes, R; Palacios, A; Amrhein, J A; Schoen, E J

    1984-10-01

    We studied four patients from three kindreds who had normal male body habitus and external genitalia except for short penile length and gynecomastia. Prostate size was small in all patients and spermatogenesis was decreased markedly in one and absent in three. Testicular biopsies in two patients revealed normal histology but evidence of spermatogenic arrest at the spermatocyte stage. Circulating levels of testosterone and LH were increased and the testosterone-dihydrotestosterone ratios were normal. Plasma estradiol was elevated in three of the four patients. Serum FSH levels were significantly elevated in only one patient. The response of LH and FSH to LHRH stimulation was normal in the two patients who were tested. Despite the normal male phenotype, the laboratory studies suggested the diagnosis of androgen insensitivity. This was confirmed in two patients by finding decreased dihydrotestosterone-binding capacity in genital skin fibroblasts. Two of the patients had normal levels of androgen receptor binding, suggesting that their defect represented a mild form of androgen insensitivity with normal receptor activity. These results demonstrated that mild forms of androgen insensitivity exist in which the only obvious clinical manifestations may be the presence of reduced penile length, gynecomastia, and/or infertility. The incidence of androgen insensitivity among men with these subtle phenotypic abnormalities, including infertility, remains to be determined.

  16. Alcohol, barbiturate and benzodiazepine withdrawal syndromes: clinical management.

    OpenAIRE

    Sellers, E M

    1988-01-01

    The symptoms and clinical management of alcohol, barbiturate and benzodiazepine withdrawal syndromes are discussed in this article. People who suffer alcohol withdrawal should be admitted to hospital if they have medical or surgical complications or severe symptoms; supportive care and pharmacotherapy, especially diazepam loading, are the essential components of treatment. Barbiturate withdrawal requires pharmacotherapy and admission to hospital for patients who have taken more than 0.4 g/d o...

  17. Clinical predictors and differential diagnosis of posterior reversible encephalopathy syndrome

    OpenAIRE

    della Faille, Laetitia; Fieuws, Steffen; Van Paesschen, W.

    2017-01-01

    The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914-925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or o...

  18. Clinical predictors and differential diagnosis of posterior reversible encephalopathy syndrome

    OpenAIRE

    Faille, Laetitia della; Fieuws, S.; Van Paesschen, W.

    2017-01-01

    The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914?925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or o...

  19. Cortical echogenicity in the hemolytic uremic syndrome: clinical correlation.

    Science.gov (United States)

    Choyke, P L; Grant, E G; Hoffer, F A; Tina, L; Korec, S

    1988-08-01

    The initial renal sonograms of 15 patients, aged 8 months to 5 years, with hemolytic uremic syndrome (HUS) were reviewed. Ultrasound studies were graded according to cortical echogenicity relative to the liver, they were compared to the severity of the clinical syndrome at admission and to the ultimate outcome of the disease. The degree of cortical echogenicity correlated with the clinical outcome of HUS in 12 of the patients, whereas clinical assessment alone predicted outcome in 13 patients. Sonography overestimated severity in three patients with mild disease correctly assessed clinically, whereas clinical assessment overestimated severity in two patients with moderate disease in whom the sonographic assessment proved correct. The sonographic changes are most likely multifactorial. They appear to reflect a combination of platelet-thrombus deposition in the renal cortex, as well as the general fluid status of the patient. Ultrasound is useful in ruling out other causes of acute renal failure such as obstruction or congenital diseases. It cannot replace laboratory tests and clinical judgement, but nevertheless provides another index of severity in patients with HUS.

  20. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    NARCIS (Netherlands)

    Bongers, M.H.F.

    2006-01-01

    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The

  1. ["Syndrome de glissement": clinical description, psychopathological models, and care management].

    Science.gov (United States)

    Weimann Péru, N; Pellerin, J

    2010-06-01

    "Syndrome de glissement", a French geriatric concept, is a serious state of physical and psychological destabilization, including anorexia, malnutrition, withdrawal and opposition. It can be compared to the American "failure to thrive syndrome" although it is a somewhat different and less extensive conception. It occurs after a free period following a disease being cured or a moving event. Considering that it has no known medical etiology and that it presents psychological symptoms, several theories can be considered. It differs from melancholia in several points: clinically, depressive thoughts are not as clear as in melancholia; biologically, there is no history of bipolar disorder and there is a poor response to antidepressants; according to a psychoanalytical model, there no longer appears to be any mental work, unlike in melancholia. Psychopathological mechanisms could be close to essential depression, involving disunion of instincts, and progressive disorganization, with a psychosomatic disorganization following a traumatism. The comparison with anaclitic depression of babies, also proposed for the American failure to thrive syndrome, leads us to question the link between "syndrome de glissement" and early traumatisms such as maternal deprivation. Moreover, it enhances the importance of environment and lack of anaclisis for the onset of a "syndrome de glissement" and its evolution. Relationship between the patient and his/her caretakers is frail and extremely necessary. When the syndrome occurs, relatives and caretakers are submitted to violent feelings, which can give rise to excessive reactions. This is the reason why a third party is required in order to support the caregiver-caregiven couple, which can be the institution. It is the only way caretakers can be supportive enough for the patient. Copyright (c) 2009 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

  2. TAKOTSUBO SYNDROME AS ACUTE FORM OF MICROVASCULAR ANGINA. CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    S. A. Boldueva

    2017-01-01

    Full Text Available The mechanisms of stress-induced cardiomyopathy (takotsubo syndrome have not been fully determined. A clinical case of the development of stressinduced cardio-myopathy in a patient with microvascular angina is presented. A 73-year-old woman was hospitalized to the cardiology clinic with a diagnosis of acute circular myocardial infarction (elevation ST II, III, aVF, V2-6, positive troponin test. According to coronary angiography stenosis of coronary arteries were not identified. According to echocardiography the following abnormalities were revealed: decrease in global contractility of the myocardium, hyperkinesia of the basal parts of the left ventricle and at the same time akinesia of the apex and hypokinesia of the middle segments of the left ventricle. After 1 month a contractility of the myocardium was normal, there were no zones of violation of contractility. It was suggested that the patient had takotsubo syndrome. Anginal pain due to physical and emotional stress with unchanged coronary arteries suggested primary microvascular angina. It was confirmed by the presence of endothelium-dependent vasodilation disorders that were revealed by positron emission tomography of myocardium with cold pressor test and peripheral arterial tonometry. This clinical case demonstrates one of the discussed pathogenetic mechanisms of the takotsubo syndrome – generalized microvascular spasm. As the patient suffered previously from chronic microvascular angina, it seems logical in this case to regard stress-induced cardiomyopathy as an acute form of microvascular angina.

  3. [Concept and clinical significance of subclinical Cushing syndrome].

    Science.gov (United States)

    Naruse, Mitsuhide; Tanabe, Akiyo; Tsuiki, Mika

    2010-03-01

    The clinical significance of subclinical Cushing syndrome has been widely recognized because of its high prevalence in adrenal incidentaloma. Circulatory and metabolic disorders are the most frequent and important complications of the disease state. Since those complications show aggravation during the clinical course and improvement after surgery, appropriate diagnosis and treatment are essential. Diagnostic criteria, especially the cutoff value of plasma cortisol after dexamethasone suppression, are markedly affected by the sensitivity and specificity of cortisol assay methods. Revision of the diagnostic criteria should reflect the prognosis of the disease state.

  4. Clinical and laboratory findings in 8 patients with Bloom's syndrome.

    Science.gov (United States)

    Masmoudi, Abderrahmen; Marrakchi, Slaheddine; Kamoun, Hassen; Chaaben, Hend; Ben Salah, Gada; Ben Salah, Raida; Fakhfakh, Faiza; Zahaf, Abdelmajid; Turki, Hamida

    2012-03-27

    Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years. Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal. Bloom's syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory.

  5. Clinical characteristics and treatment of Herlyn-Werner-Wunderlich syndrome.

    Science.gov (United States)

    Wang, Jinhui; Zhu, Lan; Lang, Jinghe; Liu, Zhufeng; Sun, Dawei; Leng, Jinhua; Fan, Qingbo

    2014-11-01

    To investigate the clinical characteristics and treatment of the Herlyn-Werner-Wunderlich syndrome (HWWS). Sixty-one patients diagnosed with HWWS were retrospectively analyzed. HWWS is categorized into three types in China. Age at presentation of all the cases was after menarche. The most common clinical presentations were dysmenorrhea for type I and vaginal discharge for types II and III. Clinical presentations of types II and III may not occur until reproductive age. HWWS occurred on the right in 39/61. Excision of the obstructed vaginal septum was the treatment utilized in this cohort. After surgery, subsequent pregnancies were ipsilateral in 52.9 %. Clinical presentation in untreated HWWS suggests the anatomic anomaly. Early recognition and treatment can reduce symptoms. Pregnancies occur in both the affected and unaffected uterus.

  6. Anatomical, Clinical and Electrical Observations in Piriformis Syndrome

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    Assoum Hani A

    2010-01-01

    Full Text Available Abstract Background We provided clinical and electrical descriptions of the piriformis syndrome, contributing to better understanding of the pathogenesis and further diagnostic criteria. Methods Between 3550 patients complaining of sciatica, we concluded 26 cases of piriformis syndrome, 15 females, 11 males, mean age 35.37 year-old. We operated 9 patients, 2 to 19 years after the onset of symptoms, 5 had piriformis steroids injection. A dorsolumbar MRI were performed in all cases and a pelvic MRI in 7 patients. The electro-diagnostic test was performed in 13 cases, between them the H reflex of the peroneal nerve was tested 7 times. Results After a followup 1 to 11 years, for the 17 non operated patients, 3 patients responded to conservative treatment. 6 of the operated had an excellent result, 2 residual minor pain and one failed. 3 new anatomical observations were described with atypical compression of the sciatic nerve by the piriformis muscle. Conclusion While the H reflex test of the tibial nerve did not give common satisfaction in the literature for diagnosis, the H reflex of the peroneal nerve should be given more importance, because it demonstrated in our study more specific sign, with six clinical criteria it contributed to improve the method of diagnosis. The cause of this particular syndrome does not only depend on the relation sciatic nerve-piriformis muscle, but the environmental conditions should be considered with the series of the anatomical anomalies to explain the real cause of this pain.

  7. Proteus syndrome: Clinical diagnosis of a series of cases

    Directory of Open Access Journals (Sweden)

    Cresio Alves

    2013-01-01

    Full Text Available Objectives: This paper describes the clinical diagnosis of Proteus syndrome (PS in children referred for evaluation of asymmetric disproportionate overgrowth. Materials and Methods: Retrospective, descriptive, cross-sectional study conducted from January 1998 to December 2010. Results: During the study period, 2011 new patients were evaluated. Thirteen (0.65% patients presented features suggestive of PS. These patients were formally evaluated based on the revised diagnostic criteria proposed by Biesecker. The mean age was 6.92 ± 5.1 years. Ten patients (76.9% were females. All subjects had asymmetric disproportionate overgrowth. Other dysmorphic features were as follows: macrodactily (84.6%; linear epidermal nevus (41.6%; hemangioma (30.7%; and lipoma (23%. Six patients fulfilled the diagnostic criteria for PS. Conclusions: The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging. Molecular tests may help the differential diagnosis of Proteus syndrome when they became commercially available.

  8. Clinical and immunological spectrum of the Miller Fisher syndrome.

    Science.gov (United States)

    Lo, Y L

    2007-11-01

    The Miller Fisher syndrome (MFS), characterized by ataxia, areflexia, and ophthalmoplegia, was first recognized as a distinct clinical entity in 1956. MFS is mostly an acute, self-limiting condition, but there is anecdotal evidence of benefit with immunotherapy. Pathological data remain scarce. MFS can be associated with infectious, autoimmune, and neoplastic disorders. Radiological findings have suggested both central and peripheral involvement. The anti-GQ1b IgG antibody titer is most commonly elevated in MFS, but may also be increased in Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). Molecular mimicry, particularly in relation to antecedent Campylobacter jejuni and Hemophilus influenzae infections, is likely the predominant pathogenic mechanism, but the roles of other biological factors remain to be established. Recent studies have demonstrated the presence of neuromuscular transmission defects in association with anti-GQ1b IgG antibody, both in vitro and in vivo. Collective findings from clinical, radiological, immunological, and electrophysiological techniques have helped to define MFS, GBS, and BBE as major disorders within the proposed spectrum of anti-GQ1b IgG antibody syndrome.

  9. Clinical and demographic characteristics of Guillain-Barre syndrome

    Directory of Open Access Journals (Sweden)

    Eşref Akıl

    2014-12-01

    Full Text Available Objective: We aimed to assess the epidemiological, clinical, laboratory, electrophysiological findings in patients with Guillain-Barre´ syndrome Methods: We performed a retrospective analysis of 33 patients with GBS admitted to Dicle University Medical Faculty Hospital neurology clinic from January 2011 to March 2014. Were reviewed. Epidemiological, clinical, therapeutical and evolutionary data were collected. Results: Thirty-six patients with the diagnosis of GBS included 22 males and 14 females. The average age at diagnosis was 41.3±21.38years with a wide age range (11–82 and a peak between 36 and 55 years. Based on clinical and electrophysiological features, 61.1% of the patients had acute inflammatory demyelinating polyneuropathy (AIDP, 22.2% acute motor and sensory axonal neuropathy 11.1% had acute motor axonal neuropathy, and 5.6% had Miller Fisher Syndrome. In 28 of 36 patients (77.0%, potential trigger factors could be identified. Respiratory tract infection was the most common infection (36.1%, followed by gastrointestinal infection (27.8%, after surgery (11.1%, vaccination (2.8% Conclusion: Our study showed that surgery may be triggered GBS and suggesting a geographical and environmental factor involved in GBS etiopathogenesis.

  10. [Some clinical symptoms and allergens on asthma-prurigo syndrome].

    Science.gov (United States)

    Rudzki, E; Romański, B; Dynowska, D; Kaczmarski, M; Olendzka-Rzepecka, E; Kurzawa, R; Obtułowicz, K; Blinowski, J; Korzeniowska-Zuk, E; Piela, Z; Szmurło, A; Stroiński, J; Doniec, Z; Pulka, G

    1998-01-01

    The group of 146 patients suffering from asthma-prurigo syndrome (85 adults and 64 children) have been inquired in many various clinical centers. It was established that in 79.6% of the patients the first symptoms of illness appeared already in infancy and only 28.2% of the patients had negative familiar anamnesis on the allergy. In 73.2% of the patients with asthma-prurigo syndrome the symptoms of atopic dermatitis persisted longer than asthma symptoms and in 89.9% of them asthma-prurigo symptoms accompanied other form of allergic diseases. The most important causal allergens provoking asthma-prurigo symptoms were: house dust (in 64.4% of the patients), chocolate (in 42.2%), cat epithelia (in 40.2%) and cow milk proteins (in 29.5% of the patients).

  11. Case of clinical Reye syndrome presenting characteristic CT changes

    Energy Technology Data Exchange (ETDEWEB)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo (Kyoto Second Red Cross Hospital (Japan)); Okuno, Takehiko

    1984-05-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease.

  12. Cushing's syndrome and chronic venous ulceration--a clinical challenge.

    Science.gov (United States)

    Biswas, Moushmi; Gibby, Owain; Ivanova-Stoilova, Tzvetanka; Harding, Keith

    2011-02-01

    Cushing's syndrome is a condition caused by high levels of glucocorticoids, or most commonly as a result of prolonged exposure to exogenous steroids. Clinical features include diabetes, hypertension, obesity, skin atrophy, immune suppression and delayed wound healing. We report a patient with iatrogenic Cushing's syndrome, in whom long-term topical steroid therapy was used to treat varicose eczema, which contributed to the development of type 2 diabetes, morbid obesity, sleep apnoea and chronic wound sepsis. In this case, repeated hospital admissions and systemic antibiotics were associated with considerable comorbidity. Aggressive local treatment, consisting of potassium permanganate soaks and irrigating gels, was highly effective in reducing the amount of exudate, pain and preventing from further deterioration of the patient's legs. © 2010 The Authors. © 2010 Blackwell Publishing Ltd and Medicalhelplines.com Inc.

  13. The metabolic syndrome in a memory clinic population: Relation with clinical profile and prognosis

    NARCIS (Netherlands)

    Exalto, L.G.; van der Flier, W.M.; van Boheemen, C.J.M.; Kappelle, L.J.; Vrenken, H.; Teunissen, C.; Koene, T.; Scheltens, P.; Biessels, G.J.

    2015-01-01

    Background The metabolic syndrome (MetS) refers to a cluster of cardiovascular risk factors that is associated with an increased risk of cognitive impairment and dementia. It is unclear however, if the presence of the MetS is associated with a particular clinical profile or a different prognosis in

  14. Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

    NARCIS (Netherlands)

    Hilhorst-Hofstee, Yvonne

    2013-01-01

    This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for

  15. Clinical study of 35 patients with dysarthria-clumsy hand syndrome

    National Research Council Canada - National Science Library

    Arboix, A; Bell, Y; García-Eroles, L; Massons, J; Comes, E; Balcells, M; Targa, C

    2004-01-01

    Although dysarthria-clumsy hand syndrome (DCHS) is a well known and infrequent lacunar syndrome, there are few data regarding the spectrum of associated clinical characteristics, anatomical site of lesion, and aetiopathogenetic mechanisms...

  16. Clinical and inheritance profiles of Kallmann syndrome in Jordan

    Directory of Open Access Journals (Sweden)

    Shegem Nadima S

    2004-10-01

    Full Text Available Abstract Background Proper management of patients with Kallmann syndrome (KS allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. Subjects Over a period of five years (1999–2004, the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. Results The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. Conclusions (1 the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2 Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3 Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

  17. Rett Syndrome: Crossing the Threshold to Clinical Translation

    Science.gov (United States)

    Katz, David M.; Bird, Adrian; Coenraads, Monica; Gray, Steven J.; Menon, Debashish U.; Philpot, Benjamin D.; Tarquinio, Daniel C.

    2016-01-01

    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

  18. Joubert syndrome: Clinical and radiological characteristics of nine patients

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    Ahmed Farag Elhassanien

    2013-01-01

    Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

  19. Thoracic Endometriosis Syndrome Other Than Pneumothorax: Clinical and Pathological Findings.

    Science.gov (United States)

    Bobbio, Antonio; Canny, Emeline; Mansuet Lupo, Audrey; Lococo, Filippo; Legras, Antoine; Magdeleinat, Pierre; Regnard, Jean-François; Gompel, Anne; Damotte, Diane; Alifano, Marco

    2017-12-01

    Thoracic endometriosis syndrome refers to a broad spectrum of clinical manifestations related to the presence of ectopic intrathoracic endometrial tissue. Few studies have reported on manifestations other than pneumothorax. Clinical, surgical, and pathology records of all consecutive women of reproductive age referred to our institution from September 2001 to August 2016 for clinically suspected thoracic endometriosis syndrome were retrospectively reviewed. After excluding women with pneumothorax, we enrolled 31 patients, divided into three subgroups: catamenial chest pain (n = 20), endometriosis-related diaphragmatic hernia (n = 6), and endometriosis-related pleural effusion (n = 5). Surgery was performed in 11 patients with catamenial thoracic pain (median age, 30 years; range, 23 to 42). Median pain intensity assessed on the 0 to 10 Visual Analogue Scale was 8 (range, 8 to 9) before surgery. At surgery, 8 patients had diaphragmatic endometriosis implants, which were resected with direct suture of diaphragm. At follow-up, median pain score was 3 (range, 0 to 8). In the group presenting with diaphragmatic hernia (median age, 36 years; range, 29 to 50), diaphragm was repaired by direct suture or placement of prosthesis in 4 and 2 cases, respectively. At follow-up, no sign of recurrent hernia was observed. Finally, among women with endometriosis-related pleural effusion (median age, 30 years; range, 25 to 42), surgical treatment was represented by evacuation of the pleural effusion and biopsy (n = 4) or removal (n = 1) of visible endometrial foci. Thoracic endometriosis syndrome is a poorly recognized entity responsible for various manifestations other than pneumothorax. In case of catamenial thoracic pain, diaphragmatic hernia and catamenial pleural effusion surgery should be advised in a multidisciplinary setting. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  20. [Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

    Science.gov (United States)

    Krönauer, T; Friederich, P

    2015-08-01

    The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

  1. Radiographic findings in patients with clinical Tietze syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Jurik, A.G.; Justesen, T.; Graudal, H.

    1987-10-01

    Thirteen patients with similar painful tender swelling in the region of the sternocostal joint (SCJ) are reported. X-ray tomography revealed changes which might explain the swelling in 11 patients. Three patients had anatomical variants of the sternum. One of these and a further two patients had marginal osteophytes at the affected SCJ, as signs of osteoarthrosis. Six patients with psoriasis, pustulosis palmoplantaris, or psoriasis in the family had past or present arthritis of the involved SCJ or the manubriosternal joint. Tomography was found to be a useful confirmatory examination in patients with clinical Tietze syndrome.

  2. The natural history and clinical syndromes of degenerative cervical spondylosis.

    LENUS (Irish Health Repository)

    Kelly, John C

    2012-01-01

    Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy.

  3. The Natural History and Clinical Syndromes of Degenerative Cervical Spondylosis

    Directory of Open Access Journals (Sweden)

    John C. Kelly

    2012-01-01

    Full Text Available Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy

  4. [Syndrome X and surgical stress. A clinical case].

    Science.gov (United States)

    Parlapiano, C; Barletta, C; Cervellini, P; D'Angelo, P; Baccarini, S; Scavo, D

    1993-02-01

    The syndrome X is a clinical disease characterised by anginous pain with the absence of significant and angiographically visible stenosis of the coronary tree. D. P. M., a 61-year-old woman suffering from biliary lithiasis, underwent cholecystectomy. During the immediate postoperative period, the patient showed difficulty in regaining consciousness and there were electrocardiographic signs of extensive anterior ischemia; prior to the operation only a 1st degree atrio-ventricular block and a positive history of occasional precordial pain had been reported. On the 2nd postoperative day the patient complained of violent retrosternal pain irradiated to the left shoulder. Given that the signs of ischemia had regressed, various instrumental tests were performed: echocardiogram, cycloergometric test, dipyridamole test, cold pressure test, Holter's dynamic ECG, all of which were within the normal; moreover, selective coronarography did not reveal significant stenosis of the coronary tree. The patient was therefore diagnosed as suffering from syndrome X. In the light of the present case, the authors conclusion may be summarised as follows: the diagnosis of syndrome X, which is by definition not easy, may sometimes become critical, as in the present case, since rapid intervention would have enabled prophylactic therapy to be performed to combat surgical stress.

  5. The HELLP syndrome: Clinical issues and management. A Review

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    Svendsen Einar

    2009-02-01

    Full Text Available Abstract Background The HELLP syndrome is a serious complication in pregnancy characterized by haemolysis, elevated liver enzymes and low platelet count occurring in 0.5 to 0.9% of all pregnancies and in 10–20% of cases with severe preeclampsia. The present review highlights occurrence, diagnosis, complications, surveillance, corticosteroid treatment, mode of delivery and risk of recurrence. Methods Clinical reports and reviews published between 2000 and 2008 were screened using Pub Med and Cochrane databases. Results and conclusion About 70% of the cases develop before delivery, the majority between the 27th and 37th gestational weeks; the remainder within 48 hours after delivery. The HELLP syndrome may be complete or incomplete. In the Tennessee Classification System diagnostic criteria for HELLP are haemolysis with increased LDH (> 600 U/L, AST (≥ 70 U/L, and platelets 9/L. The Mississippi Triple-class HELLP System further classifies the disorder by the nadir platelet counts. The syndrome is a progressive condition and serious complications are frequent. Conservative treatment (≥ 48 hours is controversial but may be considered in selected cases

  6. [Constitutional syndrome: clinical entity or a mixed bag].

    Science.gov (United States)

    Suárez-Ortega, Saturnino; Puente-Fernández, Alicia; Santana-Baez, Sergio; Godoy-Díaz, Davinia; Serrano-Fuentes, Miriam; Sanz-Peláez, Oscar

    2013-01-01

    Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

  7. CLINICAL AND ENCEPHALOGRAPHIC CHANGES AT LENNOX–GASTAUT SYNDROME

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    K. Yu. Mukhin

    2015-01-01

    Full Text Available The Lennox–Gastaut syndrome (LGS is an epileptic encephalopathy, starting in childhood and showing in often polymorphic seizures (including tonic axial ones, severe cognitive deficite, slow activity of the acute–slow wave in the interictal period at the electroencephalography (EEG, runs of fast activity of 10–20 Hz, often associated with tonic seizures, as well as with the resistance to therapy. According ILAE Classification of epilepsy syndromes and epilepsies 1989 LGS was referred to generalized cryptogenic or symptomatic forms of the epilepsy. According to Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy (2001 LGS is a classic representative of the group of childhood epileptic encephalopathies. LGS is a rather rare form of the epilepsy. The syndrome frequency makes from 1–4 to 6.6 % among all forms of the childhood epilepsy. LGS is subdivided into the cryptogenic and the symptomatic variants. From our point of view the latter it will be more correct to refer to the symptomatic focal epilepsy with the secondary bilateral synchrony phenomena at EEG. The LGS can be caused by cortical development defects, by perinatal encephalopathies, by brain tumors, by inherited metabolism diseases, by chromosomal anomalies, as well as by other factors. In case of the classic cryptogenic variant the ethiology of the LGS remains unknown. The disease onset is at the age of 2–8 y. o. In 20–40 % of cases LGS is transformed from the West syndrome. The LGS attribute is the polymorphism of seizures. The syndrome structure can combine tonic seizures, epileptic drop seizures, atypical absences, generalized tonic-clonic seizures. Focal seizures at LGS are a matter of argument. The article gives details on the clinical EEG criteria of LGS, the semiology of epileptic seizures in the syndrome structure, diagnostic and treatment approaches. The main accent is made on EEG peculiarities of the disease. The author presents the

  8. Moyamoya disease and syndromes: from genetics to clinical management

    Science.gov (United States)

    Guey, Stéphanie; Tournier-Lasserve, Elisabeth; Hervé, Dominique; Kossorotoff, Manoelle

    2015-01-01

    Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) conventional angiography, and cerebral hemodynamics measurements. Revascularization surgery can be indicated, with several techniques. Characteristics of genetic moyamoya syndromes are presented, with a focus on recently reported mutations in BRCC3/MTCP1 and GUCY1A3 genes. Identification of the genes involved in moyamoya disease and several monogenic moyamoya syndromes unraveled different pathways involved in the development of this angiopathy. Studying genes and pathways involved in monogenic moyamoya syndromes may help to give insights into pathophysiological models and discover potential candidates for medical treatment strategies. PMID:25733922

  9. Compartment syndrome after total knee arthroplasty: regarding a clinical case

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    Ana Alexandra da Costa Pinheiro

    2015-08-01

    Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  10. Miller Fisher syndrome--an uncommon clinical presentation.

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    Santra, Gouranga; Datta, A K

    2008-11-01

    Miller Fisher syndrome is an uncommon disease and it is a variant of Guillain-Barre syndrome. Miller Fisher syndrome also has rarer variants. Combined features of classic Guillain-Barre syndrome and Miller Fisher syndrome are uncommon. Here we are reporting a case of Miller Fisher variant with Guillain-Barre syndrome overlap in which ataxia, are flexia, oculomotor disturbance and limb weakness occurred within few days.

  11. Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

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    Goldner Branislav

    2005-01-01

    Full Text Available The objective of this study was to present some clinical and radiological manifestations of PNS in relation to bronchogenic carcinoma (BC and to evaluate the usefulness of imaging findings in the diagnosis of asymptomatic BC. In the study group of 204 patients (146 male and 58 female with proven bronchogenic carcinoma, PNS was present in 18 (8.62% patients. The patients with PNS were divided into two groups. The first one consisted of 13 (72.2% patients with symptoms related to primary tumours while the second one consisted of 5 (27.7% patients with symptoms, at initial appearance, indicative of disorders of other organs and systems. The predominant disorder was Lambert-Eaton Syndrome, associated with small-cell carcinoma. Endocrine manifestations included: inappropriate antidiuretic hormone production syndrome (small-cell carcinoma, a gonadotropin effect with gynaecomastia and testicular atrophy (planocellular carcinoma, small-cell carcinoma, a case of Cushing Syndrome (small-cell carcinoma, and hyper-calcaemia, due to the production of the parathyroid hormone-related peptide, which was associated with planocellular carcinoma. A rare case of bilateral exophthalmos was found as PNS at adenocarcinoma. Digital clubbing and hypertrophic osteoarthropathy (HO were associated with planocellular and adenocarcinoma, while clubbing was much more common than HO, especially among women. The differences between the two groups were related to the time of PNS appearance. In the first group, PNS occurred late on in the illness, while in the second group, PNS preceded the diagnosis of BC. Alternatively, the disappearance of a clinical or a radiological manifestation of PNS after surgery or chemotherapy may be an indicator of an improvement in health or PNS may be the first sign of illness recurrence. Radiological manifestations of PNS in asymptomatic patients may serve as a useful screen for identifying primary BC. In symptomatic patients, it may be an

  12. Brugada Syndrome. Clinical, Genetic, Molecular, Cellular and Ionic Aspects

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    Antzelevitch, Charles; Patocskai, Bence

    2015-01-01

    The Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome first described as a new clinical entity in 1992. Electrocardiographically characterized by distinct coved type ST segment elevation in the right precordial leads, the syndrome is associated with a high risk for sudden cardiac death in young adults, and less frequently in infants and children. The ECG manifestations of the BrS are often concealed and may be unmasked or aggravated by sodium channel blockers, a febrile state, vagotonic agents, as well as by tricyclic and tetracyclic antidepressants. An implantable cardioverter defibrillator (ICD) is the most widely accepted approach to therapy. Pharmacological therapy is designed to produce an inward shift in the balance of currents active during the early phases of the right ventricular action potential and can be used to abort electrical storms or as an adjunct or alternative to device therapy when use of an ICD is not possible. Isoproterenol, cilostazol and milrinone boost calcium channel current and drugs like quinidine, bepridil and the Chinese herb extract Wenxin Keli inhibit the transient outward current, acting to diminish the action potential (AP) notch and thus to suppress the substrate and trigger for VT/VF. Radiofrequency ablation of the right ventricular outflow tract epicardium of BrS patients has recently been shown to reduce arrhythmia-vulnerability and the ECG-manifestation of the disease, presumably by destroying the cells with more prominent AP notch. This review provides an overview of the clinical, genetic, molecular and cellular aspects of the BrS as well as the approach to therapy. PMID:26671757

  13. Neuroretinitis: a clinical syndrome of cat-scratch disease.

    Science.gov (United States)

    Rost Monahan S

    2000-12-01

    Cat-scratch disease is usually a benign self-limited illness, characterized by regional lymphadenopathy lasting between 3 and 6 weeks. The causative organism is Bartonella henselae, a small gram-negative rod. Between 1 and 2% of patients who contract the illness experience blurred vision, metamorphopsia and scotomas as a result of neuroretinitis, an associated clinical syndrome. The classical clinical findings in cat-scratch neuroretinitis include disc edema and a stellate pattern of exudates in the macula. However, a myriad of other signs has been documented, suggesting a much wider spectrum of intra-ocular disease. The following case report presents a young patient with neuroretinitis, and a history of lymphadenopathy secondary to cat-scratch disease.

  14. Middle East respiratory syndrome clinical practice guideline for hemodialysis facilities

    Science.gov (United States)

    Park, Hayne Cho; Lee, Young-Ki; Lee, Sang-Ho; Yoo, Kyung Don; Jeon, Hee Jung; Ryu, Dong-Ryeol; Kim, Seong Nam; Sohn, Seung Hwan; Chun, Rho Won; Choi, Kyu Bok

    2017-01-01

    The Korean Society of Nephrology participated in the task force team consisting of government authorities and civilian experts to prevent and control the spread of Middle East respiratory syndrome (MERS) in 2015. The Korean Society of Nephrology MERS Task Force Team took an immediate action and drafted ‘the clinical recommendation for hemodialysis facilities’ to follow when the first and the only confirmed case was reported in the hemodialysis unit. Owing to the dedicated support from medical doctors, dialysis nurses, and related medical companies, we could prevent further transmission of MERS infection successfully in hemodialysis units. This special report describes the experience of infection control during MERS outbreak in 2015 and summarizes the contents of ‘the clinical practice guideline for hemodialysis facilities dealing with MERS patients’ built upon our previous experience. PMID:28680819

  15. APECED syndrome in childhood: clinical spectrum is enlarging.

    Science.gov (United States)

    Valenzise, Mariella; Alessi, Luca; Bruno, Enrico; Cama, Valeria; Costanzo, Daria; Genovese, Cristina; Mignosa, Cristina; Scuderi, Veronica; DE Luca, Filippo

    2016-06-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified.

  16. Clinical Study on Five Cases of Carpal tunnel syndrome

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    Kim Il Hwan

    2001-12-01

    Full Text Available Objections : The purpose of the study was to evaluate the effectiveness of treating the carpal tunnel syndrome by using both the Herbal Acupuncture and herbal medicine therapy on five cases. Methods : For the Herbal Acupuncture, Jungseonguhhyl No. 1 and Hwanglyunhaedoktang were used. For the herbal medicine, Dangguihwalhyul-tang was used. The patients were treated once in every two days; the result was evaluated after ten treatments. Patients' conditions were monitored through their testimony, phalen's test, nerve conduction study and electromyography. Results : In all five cases, the patients showed improvement; in four cases, the patients no longer had most of the clinical symptoms. Based on the result of the nerve conduction study, for the four cases in which the patients no longer displayed most of the clinical symptoms, their nerve conduction rate improved; for the remaining one case, the patient's nerve conduction rate deteriorated. Conclusions : The results of this study demonstrate that combining the Herbal Acupuncture and herbal medicine therapy can have noticeable effects in treating the carpal tunnel syndrome; developing more variety of the herbal acupuncture would lead to even better treatment results.

  17. Clinical characteristics of polycystic ovary syndrome in Indian women

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    Sunita J Ramanand

    2013-01-01

    Full Text Available Background: Polycystic ovary syndrome (PCOS is common diagnosis in women presenting with infertility. All the dimensions of PCOS have not been completely explored. Many studies have tried to characterize the exact presentation of the disease. In this study we studied clinical features of PCOS in Indian women to characterize different phenotypes of this syndrome. Prevalence of acanthosis nigricans (AN as surrogate marker of insulin resistance, obesity, hirsutism and hypothyroidism in PCOS women have been simultaneously studied. Materials and Methods: Present work is a non comparative cross-sectional open label study carried out over a period of 18 months in an endocrinology hospital in western Maharashtra, India. Results and Conclusion: Authors conclude that PCOS occurs both in obese and non-obese women; AN and hirsutism occur in equal proportion of patients. AN is correlated with obesity. Hormonal dysfunctions in PCOS manifested together or independently. PCOS women can be sub grouped based on clinical features suggestive of endocrinological malfunctions and can be investigated accordingly for selection of appropriate treatment modalities.

  18. [Clinical, immunological, and electrophysiological matching in Raynaud's syndrome].

    Science.gov (United States)

    Gerasimova, M M; Cherdyntsev, M G

    2005-01-01

    Detailed description of Raynaud's syndrome (RS) dates back to the 19th century; nevertheless, this problem is still topical because of high prevalence of the syndrome (4 to 5% of population), and the fact that different specialists have to deal with it. The authors of the article studied clinical, immunological, and electrophysiological peculiarities of 103 patients with RS, both primary and secondary one. The examination included measurement of the level of antibodies to nerve growth factor (NGF) and myeline basic protein (MBP) and electroneuromyography. All the subjects displayed significant elevation of serum titer of MBP and NGF antibodies, and lowered peripheral nerve impulse conduction velocity (ICV). There was a direct correlation between antibody titer and the severity of the disease, and inverse correlation between ICV of sensory nervous fibers and the severity of the disease. Thus, RS is almost always associated with peripheral sensory fiber pathology, whose clinical manifestation consists in demyelinating polyneuropathy of autoimmune origin; the more prominent demyelinization, the higher the degree of disease severity.

  19. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study

    Science.gov (United States)

    Halbach, Nicky; Julu, Peter; Witt‐Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F.; Borelli, Paolo; Candel, Math; Curfs, Leopold

    2016-01-01

    Many studies have attempted to establish the genotype–phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well‐defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype–phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non‐invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence‐based management in RTT. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. PMID:27354166

  20. Clinical and Molecular Characterization of Prader-Willi Syndrome.

    Science.gov (United States)

    Sanjeeva, G N; Maganthi, Madhuri; Kodishala, Himabindu; Marol, Rohit Kumar R; Kulshreshtha, Pooja S; Lorenzetto, Elisa; Kadandale, Jayarama S; Hladnik, Uros; Raghupathy, P; Bhat, Meenakshi

    2017-11-01

    To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis. At diagnosis, the most common clinical features included obesity (59%) and short stature (53%). Distinct dysmorphic features were observed in 67%. Neonatal hypotonia with feeding difficulty, delayed development in infancy and childhood behavioral problems were reported in 94%, 94% and 74% respectively. Food seeking behavior and hyperphagia was reported in 67%. Seizures were reported in 47%. All children had underdeveloped external genitalia. Growth hormone (GH) deficiency and impaired glucose tolerance were found in 56% and 50% respectively. Sleep related problems were seen in 67%. Skin and rectal picking were reported in 67%. FISH confirmed micro-deletion was found in 64.7% and abnormal methylation in 35%, of which uniparental disomy was confirmed in 14.7%. Clinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.

  1. [Clinical features and comorbidities of Asperger syndrome in children].

    Science.gov (United States)

    Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

    2013-09-01

    To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

  2. Concoradance of clinical and neurophysiologic diagnoses of carpal tunnel syndrome

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    Martić Vesna

    2015-01-01

    Full Text Available Introduction/Aim. Clinical presentation and neurophysiological examination are crucial in diagnosing carpal tunnel syndrome (CTS. The aim of this study was to determine sensitivity and specificity of clinical examination for diagnosing of CTS in relation to neurophysiological evaluation. Methods. The sample included 181 patients referred to the neurologist for further diagnosis of pain and parestesias in the arm (81 women and 100 men mean age 42 ± 14 years and 52 ± 16 years, respectively. All the patients were neurophysiologicly tested. Results. Out of 181 patients, clinical findings were considered positive for CTS in 37 patients. The neurophysiological findings for CTS were positive in 60 patients. Both clinical and neurophysiological findings were positive in 31 patients and both findings were negative in 115 patients (sensitivity 0,51; specificity 0,95. Conclusion. Low sensitivity and high specificity suggest that it is easier to exclude rather than to accurately diagnose CTS based on clinical examination alone. Thus, there is the need for neurophysiological evaluation of patients with complains in the arm.

  3. Prevalence of burnout syndrome in clinical nurses at a hospital of excellence

    OpenAIRE

    Ribeiro, Vivian F; Filho, Celso F; Valenti, Vitor E; Ferreira, Marcelo; de Abreu, Luiz C; de Carvalho, Tatiana D; Xavier, Valdelias; de Oliveira Filho, JapyAngeli; Gregory, Pedro; Leão, Eliseth R; Francisco, Natascha G; Ferreira, Celso

    2014-01-01

    Abstract Background Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, s...

  4. Movement Disorders Syndromes Associated With Lacunar Infarcts, Clinical Case Series

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    A Chitsaz

    2017-02-01

    Full Text Available Lacunar infarcts are small (<15 mm diameter subcortical infarcts that results from occlusion of a single penetrating artery. Lacunar infarcts are associated with clinical lacunar syndromes, one of lacunar syndromes is movement disorders syndrome such as chore, dystonia, hemibolismus and asterixis. Several types of movement disorders have been described with small, deep infarct, majority of these syndrome is caused by penetrating small- artery disease. The movement disorder may appear as the only sign of the infarct or may develop later, after an initial syndrome, different in character, has resolved. Hemichorea – hemiballismus is the most common of movement disorder due to lacunar infarcts. The lacunar size infarcts found in different parts of the striatum including in head of the caudate nucleus and adjacent corona radiate, the subthalamic  and the thalamus. The onset is typically abrupt and is usually- unaccompanied by other complaints. The chorea usually involves the forearm, hand, and fingers. In some cases, chorea has been delayed by some weeks or months after the initial occurrence of hemiparesis.  Dystonia: Two types of dystonia have been described in cases of lacunes, action- induced and focal dystonia. Case I-  in a 63 year old woman with lacunar stroke, with abrupt onset of chorea, chorea involves the foream, hand, and fingers, it was  accompanied by hemiparesis that faded within 3 months even though the chorea persisted unchanged. Case II-  In a 75 years old man chorea was delayed by some weeks after initial occurrence of hemiparesis due to lacunar infarct. Case III-  in a 81 years old woman lacunar infarct, whose putaminal lesions was documented by CT scan, suffer choreic movements of the distal parts of the arm and leg that interfered with normal activity and prevented easy walking for more than a weeks, the examination revealed normal strength, sensation and reflexes. Case IV-  A 69 years old man , with lacunar infarct in

  5. Moyamoya disease and syndromes: from genetics to clinical management

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    Guey S

    2015-02-01

    Full Text Available Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO, Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France Abstract: Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI, magnetic resonance angiography (MRA conventional angiography, and cerebral hemodynamics measurements

  6. Fragile X syndrome: a review of clinical and molecular diagnoses.

    Science.gov (United States)

    Ciaccio, Claudia; Fontana, Laura; Milani, Donatella; Tabano, Silvia; Miozzo, Monica; Esposito, Susanna

    2017-04-19

    Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures. FXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features. Unfortunately, some of the available studies have limitations, such as the paucity of patients enrolled or bias due to the collection of the data in a single-country population, which may be not representative of the average global FXS population. In recent years, insight into the adult presentation of the disease has progressively increased. Pharmacological treatment of FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which may reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms. The clinical spectrum of FXS is wide, presenting not only as an isolated intellectual disability but as a multi-systemic condition, involving predominantly the central nervous system but potentially affecting any apparatus. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden.

  7. Solitary Rectal Ulcer Syndrome: Demographic, Clinical, Endoscopic and Histological Panorama.

    Science.gov (United States)

    Abbasi, Amanullah; Bhutto, Abdul Rabb; Taj, Ali; Aurangzaib; Baloch, Akhtar; Masroor, Muhammad; Munir, S M

    2015-12-01

    To assess the demographic, clinical, endoscopic and histological spectrum of Solitary Rectal Ulcer Syndrome (SRUS). Cross-sectional observational study. Medical Unit-III, Civil Hospital Karachi (CHK) and Ward 7, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from January 2009 to June 2012. Patients with SRUS, based on characteristic endoscopic and histological findings, were enrolled. Patients were excluded if they had other causes of the rectal lesions (neoplasm, infection, inflammatory bowel disease, and trauma). Endoscopically, lesions were divided on the basis of number (solitary or multiple) and appearance (ulcerative, polypoidal/nodular or erythematous mucosa). Demographic, clinical and endoscopic characteristics of subjects were evaluated. Forty-four patients met the inclusion criteria; 21 (47.7%) were females and 23 (52.3%) were males with overall mean age of 33.73 ±13.28 years. Symptom-wise 41 (93.2%) had bleeding per rectum, 39 (88.6%) had mucous discharge, 34 (77.3%) had straining, 34 (77.3%) had constipation, 32 (72.7%) had tenesmus, 5 (11.4%) had rectal prolapse and 2 (4.5%) had fecal incontinence. Twelve (27.27%) patients presented with hemoglobin less 10 gm/dl, 27 (61.36%) with 10 - 12 gm/dl and 05 (11.36%) subjects had hemoglobin more than 12 gm/dl. Endoscopically, 26 (59.1%) patients had mucosal ulceration, 11 (25.0%) had mucosal ulceration with polypoid characteristics; while only polypoid features were found in 7 (15.9%) subjects. Solitary rectal ulcer syndrome affects adults of both genders with diverse clinical presentation and nonspecific endoscopic features.

  8. Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

    Science.gov (United States)

    Lewis, I; Pairman, J; Spickett, G; Newton, J L

    2013-05-01

    A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

  9. Clinical predictors and differential diagnosis of posterior reversible encephalopathy syndrome.

    Science.gov (United States)

    Faille, Laetitia Della; Fieuws, S; Van Paesschen, W

    2017-06-01

    The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914-925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or other focal neurological signs that appear in the clinical setting of risk factors such as hypertension/blood pressure fluctuations, chemotherapy, renal failure, autoimmune disorders, or eclampsia, in whom imaging of the brain was performed to exclude PRES. Seventeen percent of patients had a radiologically confirmed diagnosis of PRES. Univariable logistic regression showed a significant association between PRES and epileptic seizures, encephalopathy, hypertension, chemotherapy and renal failure. Multivariable logistic regression of acute neurological symptoms and risk factors showed a significant association of epileptic seizures, encephalopathy, visual disturbances, hypertension and chemotherapy with PRES. Using these variables to predict PRES yielded a discriminative ability (AUC) equal to 0.793. Diagnoses when PRES was not confirmed included primary or secondary headaches (26%), toxic-metabolic encephalopathy (21%), vascular pathology (12%) and other less frequent disorders. Epileptic seizures, encephalopathy, visual disturbances, hypertension, renal failure and chemotherapy were the best clinical predictors of PRES, while headache, immune suppression and autoimmune disease were not useful for the clinical diagnosis of PRES in our study.

  10. Gastrointestinal polyposis syndromes: clinical and molecular aspects with an emphasis on Peutz-Jeghers syndrome

    NARCIS (Netherlands)

    Jansen, M.

    2008-01-01

    Gastrointestinal polyposis syndromes are characterized by the development of gastrointestinal polyps and an increased risk for neoplastic transformation. Peutz-Jeghers syndrome is a polyposis syndrome characterized by the development of gastrointestinal hamartomas; the molecular and

  11. Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression; Parkinson-Syndrome: Klinische Symptomatik, Differenzialdiagnose und Verlauf

    Energy Technology Data Exchange (ETDEWEB)

    Storch, A. [Klinik fuer Neurologie, Univ. Ulm (Germany)

    2002-09-01

    Parkinsonian syndromes include idiopathic Parkinson's disease (IPD), other neurodegenerative diseases with parkinsonism, the so-called atypical parkinsonian syndromes, and symptomatic parkinsonian syndromes, such as Wilson's disease. IPD is the most frequent disease with parkinsonism as the main clinical feature and is responsible for approx. 80% of all parkinsonian syndromes. Atypical parkinsonian syndromes are the most important differential diagnoses of IPD. The two most frequent types are multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). For clinical diagnosis it is essential to take a careful medical history and to examine the patients physically in regular intervals. However, various clinico-pathological studies have shown that approx. 25% of patients with clinical diagnosis of IPD may have other causes of parkinsonism. Selected technical investigations, in particular functional imaging of the central dopaminergic system using PET or SPECT, may help to make clinical diagnosis more secure. This paper reviews the clinical features and diagnostic findings in diseases with parkinsonism and summarises the difficulties in establishing early and differential diagnoses. (orig.) [German] Parkinson-Syndrome koennen im Rahmen des idiopathischen Parkinson-Syndroms (IPS; auch Morbus Parkinson), anderer neurodegenerativer Erkrankungen, den so genannten atypischen Parkinson-Syndromen, und der symptomatischen Parkinson-Syndrome vorkommen. Das IPS ist dabei mit ca. 80% aller Parkinson-Syndrome die haeufigste Ursache. Neurodegenerative atypische Parkinson-Syndrome sind die wichtigsten Differenzialdiagnosen des idiopathischen Parkinson-Syndroms. Die beiden haeufigsten Formen sind die Multisystematrophie (MSA) und die progressive supranukleaere Blickparese (PSP). Die meisten Parkinson-Syndrome lassen sich anhand klinischer Kriterien und morphologischer Bildgebung bereits differenzialdiagnostisch einordnen. Klinisch-pathologische Studien haben

  12. Lynch syndrome in the 21st century: clinical perspectives.

    Science.gov (United States)

    Tiwari, A K; Roy, H K; Lynch, H T

    2016-03-01

    Lynch syndrome (LS) is the most common of all inherited cancer syndromes, associated with substantially elevated risks for colonic and extracolonic malignancies, earlier onset and high rates of multiple primary cancers. At the genetic level, it is caused by a defective mismatch repair (MMR) system due to presence of germline defects in at least one of the MMR genes- MLH1, MSH2, MSH6, PMS2 or EPCAM. An impaired MMR function during replication introduces infidelity in DNA sequence and leads to ubiquitous mutations at simple repetitive sequences (microsatellites), causing microsatellite instability (MSI). Although previously, clinicopathological criteria such as Amsterdam I/II and Revised Bethesda Guidelines were commonly used to identify suspected LS mutation carriers, there has been a recent push towards universally testing, especially in case of colorectal cancers (CRCs), through immunohistochemistry for expression of MMR proteins or through molecular tests (polymerase chain reaction, PCR) for MSI, in order to identify LS mutation carriers and subject them to genetic testing to ascertain the specific gene implicated. In this review, we have discussed the latest diagnostic strategies and the current screening and treatment guidelines for colonic and extracolonic cancers in clinically affected and at-risk individuals for LS. © The Author 2015. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. PSEUDO-LENNOX SYNDROME: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2016-01-01

    Full Text Available Pseudo-Lennox syndrome (PLS, or atypical benign partial epilepsy of childhood, is a disease from a group of age-related epileptic encephalopathies with a phenomenon of continuous spike-wave activity during slow sleep, which manifests itself as frequent polymorphic focal motor and pseudogeneralized seizures, cognitive impairments, as well as regional and diffuse epileptiform activity on electroencephalogram (EEG by the morphology identical to that of benign epileptiform patterns of childhood. The disease was first described by J. Aicardi and J. J. Chevrie in 1982, based on a study of 7 cases. Its diagnostic complexity is the polymorphism of both epileptic seizures and EEG data, as well as low awareness of the syndrome among physicians and its absence in the international classification of epilepsies. The typical triad of seizures, which occurs in nearly 100 % of patients, encompasses focal motor paroxysms (identical to those as observed in Rolandic epilepsy, atypical absences, and atonic seizures. Seizures in PLS in its active period (generally up to 7–8 years are highly resistant to antiepileptic drugs. Only a few agents have been proven to be effective in PLS; these include valproates, succinimides, benzodiazepines, topiramate, and sulthiame. The frequency of seizures are noted to increase in patients with PLS treated with drugs, such as vigabatrin, gabapentin, lamotrigine, phenobarbital, or phenytoin. The author considers in detail the history of studies of the disease, clinical manifestations, diagnostic criteria, therapeutic approaches, and prognosis.

  14. Cockayne syndrome: the expanding clinical and mutational spectrum.

    Science.gov (United States)

    Laugel, Vincent

    2013-01-01

    Cockayne syndrome is a progressive multisystem disorder characterized by a specific cellular defect in transcription-coupled repair. Typical features include developmental delay, failure to thrive, microcephaly, cutaneous photosensitivity, dental anomalies, progressive hearing loss, pigmentary retinopathy, cataracts and enophthalmia. Various levels of severity have been described including the "classical" or moderate type I CS, the early-onset or severe type II and the mild or late-onset type III. Adult-onset cases with prolonged survival and normal initial development have also been identified. At the opposite end of the scale, the most severely affected patients, showing a prenatal onset of the symptoms, are overlapping with the cerebro-oculo-facio-skeletal (COFS) syndrome. These overlapping subtypes build a continuous spectrum without clear thresholds. Revised diagnostic criteria are proposed to improve the recognition of the disease. Two thirds of the patients are linked to mutations in the CSB (ERCC6) gene, one third to mutations in the CSA (ERCC8) gene. At least 78 different mutations are known in the CSB gene and 30 in the CSA gene to date, in more than 120 genetically confirmed patients. Large clinical and molecular databases are needed to unravel genotype-phenotype correlations and to gain more insight into the underlying molecular mechanisms. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  15. Clinical findings in obligate carriers of type I Usher syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R. [University Hospital Nijmegen (Netherlands)] [and others

    1995-11-20

    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  16. Usher syndrome in Denmark: mutation spectrum and some clinical observations.

    Science.gov (United States)

    Dad, Shzeena; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth; Grønskov, Karen; Karstensen, Helena Gásdal; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Françoise; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth Birk

    2016-09-01

    Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods. Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C,USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method. Mutations in 12 individuals (7 USH1, 5 USH2) were found by targeted NGS of ten known USH genes. Five novel pathogenic variants were identified. We combined our data with previously published, and obtained an overview of the USH mutation spectrum in Denmark, including 100 unrelated individuals; 32 with USH1, 67 with USH2, and 1 with USH3. Macular edema was observed in 44 of 117 individuals. Olfactory function was tested in 12 individuals and found to be within normal range in all. Mutations that lead to USH1 were predominantly identified in MYO7A (75%), whereas all mutations in USH2 cases were identified in USH2A. The MYO7A mutation c.93C>A, p.(Cys31*) accounted for 33% of all USH1 mutations and the USH2A c.2299delG, p.(Glu767Serfs*21) variant accounted for 45% of all USH2 mutations in the Danish cohort.

  17. [Williams syndrome: its clinical aspects and molecular bases].

    Science.gov (United States)

    Antonell, A; Del Campo, M; Flores, R; Campuzano, V; Perez-Jurado, L A

    2006-01-07

    Williams syndrome is a developmental disorder with an estimated prevalence of 1 in 7,500 newborns. Its phenotype is characterized by distinctive facial features, mild to moderate mental retardation and general cognitive deficits with a non-uniform profile, having problems in some areas (psychomotricity, visuospatial integration) and relative preservation of others (language, musicality), friendly personality, occasional hypercalcemia of infancy, and a vasculopathy with supravalvular aortic stenosis. Williams syndrome is caused by a submicroscopic deletion of 1.55 Mb in the chromosome band 7q11.23, which includes 26-28 genes. The mutational mechanism consists in a misalignment between regions of almost identical sequence and the subsequent unequal recombination. The reciprocal product of this rearrangement is the duplication of this region, causing a language specific disorder. Clinical-molecular correlations establishment through a good phenotypic characterization and the precise analysis of breakpoints in patients with atypical and typical deletions, altogether with the design of animal models and functional studies in vitro for the genes of the interval will be important to be able to determine the exact contribution of the genes to the phenotype, to know their pathogenesis and physiopathology, and to identify therapeutic methods.

  18. Clinical and neurocognitive features of the post Lyme syndrome.

    Science.gov (United States)

    Bujak, D I; Weinstein, A; Dornbush, R L

    1996-08-01

    To evaluate neurocognitive impairment in patients with persistent arthralgia, fatigue, and subjective memory loss in patients after Lyme disease (post-Lyme syndrome, PLS). We compared the clinical, neurocognitive, and psychological features of 23 patients with PLS to 23 age, sex, and education matched recovered patients (REC). All met Centers for Disease Control criteria for Lyme disease, were ELISA positive at onset of Lyme disease and were previously treated with standard antibiotic regimens. Of the patients with PLS, 7 (30%) had fibromyalgia (FM), 3 (13%) had chronic fatigue syndrome, and 10 (43%) had similar but milder symptoms but did not meet the criteria for either. 22 of 23 patients with PLS complained of decreased memory or concentration problems. Patients with PLS had significantly lower scores on the attention/concentration scale (p = 0.012) of the Wechsler Memory Scale-Revised (WMS-R), indicating lowered attention/concentration. 52% of patients with PLS and 35% in the REC group had significantly lower (p treatment, a sequelae of Lyme disease may be a PLS characterized by persistent arthralgia, fatigue, and neurocognitive impairment that is probably induced by Lyme disease.

  19. Clinical utility of metabolic syndrome severity scores: considerations for practitioners

    Directory of Open Access Journals (Sweden)

    DeBoer MD

    2017-02-01

    Full Text Available Mark D DeBoer,1,2 Matthew J Gurka2 11Division of Pediatric Endocrinology, Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA, 2Department of Health Outcomes and Policy, College of Medicine, University of Florida, Gainesville, FL, USA Abstract: The metabolic syndrome (MetS is marked by abnormalities in central obesity, high blood pressure, high triglycerides, low high-density lipoprotein-cholesterol, and high fasting glucose and appears to be produced by underlying processes of inflammation, oxidative stress, and adipocyte dysfunction. MetS has traditionally been classified based on dichotomous criteria that deny that MetS-related risk likely exists as a spectrum. Continuous MetS scores provide a way to track MetS-related risk over time. We generated MetS severity scores that are sex- and race/ethnicity-specific, acknowledging that the way MetS is manifested may be different by sex and racial/ethnic subgroup. These scores are correlated with long-term risk for type 2 diabetes mellitus and cardiovascular disease. Clinical use of scores like these provide a potential opportunity to identify patients at highest risk, motivate patients toward lifestyle change, and follow treatment progress over time. Keywords: metabolic syndrome, insulin resistance, cardiovascular disease, type 2 diabetes, risk prediction

  20. Clinical manifestations and oral findings in Fraser syndrome.

    Science.gov (United States)

    Diniz, Michele Baffi; Lima, Luciana Monti; Sacono, Nancy Tomoko; de Paula, Andréia Bolzan; dos Santos-Pinto, Lourdes

    2007-01-01

    This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.

  1. Clinical presentation and management of neonatal abstinence syndrome: an update

    Directory of Open Access Journals (Sweden)

    Ordean A

    2014-04-01

    Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

  2. 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

  3. Overlapping Clinical Features Between NAFLD and Metabolic Syndrome in Children

    Directory of Open Access Journals (Sweden)

    Anna Alisi

    2014-05-01

    Full Text Available Non-alcoholic fatty liver disease (NAFLD is a cluster of pathological liver conditions of emerging importance in overweight and obese children. NAFLD is associated with central obesity, insulin resistance, and dyslipidaemia, which are considered to be the main features of metabolic syndrome (MetS. Prevention of the adverse outcomes of NAFLD, as well as the risk of MetS, depends on the identification of genetic background and environmental factors that modulate susceptibility to these diseases. However, several lines of evidence highlight the strong correlation and co-currency of these two chronic diseases, both in children and in adults. In the present review, we provide an overview of the current clinical proofs on the link between NAFLD and MetS in children, with particular focus on all the possible overlapping features that connect them at paediatric age.

  4. MRI criteria for MS in patients with clinically isolated syndromes

    DEFF Research Database (Denmark)

    Montalban, X.; Tintore, M.; Swanton, J.

    2010-01-01

    In recent years, criteria for the diagnosis of multiple sclerosis (MS) have changed, mainly due to the incorporation of new MRI criteria. While the new criteria are a logical step forward, they are complex and-not surprisingly-a good working knowledge of them is not always evident among...... neurologists and neuroradiologists. In some circumstances, several MRI examinations are needed to achieve an accurate and prompt diagnosis. This provides an incentive for continued efforts to refine the incorporation of MRI-derived information into the diagnostic workup of patients presenting with a clinically...... isolated syndrome. Within the European multicenter collaborative research network that studies MRI in MS (MAGNIMS), a workshop was held in London in November 2007 to review information that may simplify the existing MS diagnostic criteria, while maintaining a high specificity that is essential to minimize...

  5. Alcohol, barbiturate and benzodiazepine withdrawal syndromes: clinical management.

    Science.gov (United States)

    Sellers, E M

    1988-07-15

    The symptoms and clinical management of alcohol, barbiturate and benzodiazepine withdrawal syndromes are discussed in this article. People who suffer alcohol withdrawal should be admitted to hospital if they have medical or surgical complications or severe symptoms; supportive care and pharmacotherapy, especially diazepam loading, are the essential components of treatment. Barbiturate withdrawal requires pharmacotherapy and admission to hospital for patients who have taken more than 0.4 g/d of secobarbital or an equivalent amount of another barbiturate for 90 days or longer, or 0.6 g/d or an equivalent dose for 30 days or longer, or who have had withdrawal seizures or delirium; phenobarbital loading is recommended. Regular benzodiazepine therapy that has lasted at least 3 months should be gradually stopped. Short-acting agents should be replaced with long-acting ones, such as diazepam, to avoid withdrawal symptoms. Most of these patients can be managed on an outpatient basis.

  6. Clinical, paraclinical and serological findings in Susac syndrome

    DEFF Research Database (Denmark)

    Jarius, Sven; Kleffner, Ilka; Dörr, Jan M

    2014-01-01

    patients and was associated with bilateral visual and hearing impairment, a broad panel of neurological and neuropsychological symptoms, and brain atrophy in the majority of cases. Seropositive and seronegative patients did not differ with regard to any of the clinical or paraclinical parameters analyzed......BACKGROUND: Susac syndrome (SuS) is a rare disorder thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear leading to central nervous system (CNS) dysfunction, visual disturbances due to branch retinal artery occlusions (BRAO), and hearing deficits....... CONCLUSIONS: SuS took a severe and protracted course in the present cohort, resulting in significant impairment. Our finding of high-titer IgG1 and IgM AECA in some patients suggest that humoral autoimmunity targeting the microvasculature may play a role in the pathogenesis of SuS, at least in a subset...

  7. Clinical association: Lyme disease and Guillain-Barre syndrome.

    Science.gov (United States)

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-10-01

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Clinical symptoms of sleep apnea syndrome and automobile accidents

    DEFF Research Database (Denmark)

    Haraldsson, P O; Carenfelt, C; Diderichsen, Finn

    1990-01-01

    Patients with clinical features of sleep apnea syndrome (SAS) and self-reported sleep spells at the wheel do poorly in simulated monotonous driving. To evaluate whether drivers with defined symptoms of SAS (heavy snoring, sleep disturbances and daytime sleepiness) compensate in real traffic...... by careful driving or not, the rate of car accidents over a 5-year period was investigated. A questionnaire was addressed to 140 patients with and 142 controls without symptoms associated to SAS. Seventy-three of the patients had a complete triad of SAS-associated symptoms. Fifty-two percent...... of these patients reported habitual sleep spells at the wheel, as opposed to less than one percent by the controls. The ratio of drivers being involved in one or more combined-car accident was similar for patients and control drivers, but for single-car accidents the ratio was about 7 times higher for patients...

  9. Free amino acids in fibromyalgia syndrome: relationship with clinical picture.

    Science.gov (United States)

    Ruggiero, Valeria; Mura, Massimiliano; Cacace, Enrico; Era, Benedetta; Peri, Marcella; Sanna, Giuseppina; Fais, Antonella

    2017-04-01

    The objectives of our study were to evaluate free amino acid (FAA) concentrations in the serum of patients affected by fibromyalgia syndrome (FMS) and to determine the relationships between FAA levels and FMS clinical parameters. Thus, serum amino acid concentrations were quantified (HPLC analysis) in 23 females with fibromyalgia (according to the American College of Rheumatology classification criteria) and 20 healthy females. The results showed significantly higher serum concentrations of aspartate, cysteine, glutamate, glycine, isoleucine, leucine, methionine, ornithine, phenylalanine, sarcosine, serine, taurine, tyrosine and valine in FMS patients vs. healthy controls. Patients with higher Fibromyalgia Impact Questionnaire (FIQ) scores showed increased levels of alanine, glutamine, isoleucine, leucine, phenylalanine, proline and valine. In conclusion, our results indicate an imbalance in some FAAs in FMS patients. Increased Glu is particularly interesting, as it could explain the deficit in monoaminergic transmission involved in pain.

  10. A Clinical Approach to the Acute Cardiorenal Syndrome.

    Science.gov (United States)

    Jentzer, Jacob C; Chawla, Lakhmir S

    2015-10-01

    Acute kidney injury is a frequent complication of acute heart failure syndromes, portending an adverse prognosis. Acute cardiorenal syndrome represents a unique form of acute kidney injury specific to acute heart failure syndromes. The pathophysiology of acute cardiorenal syndrome involves renal venous congestion, ineffective forward flow, and impaired renal autoregulation caused by neurohormonal activation. Biomarkers reflecting different aspects of acute cardiorenal syndrome pathophysiology may allow patient phenotyping to inform prognosis and treatment. Adjunctive vasoactive, neurohormonal, and diuretic therapies may relieve congestive symptoms and/or improve renal function, but no single therapy has been proved to reduce mortality in acute cardiorenal syndrome. Published by Elsevier Inc.

  11. Evans syndrome and systemic lupus erythematosus: clinical presentation and outcome.

    Science.gov (United States)

    Costallat, Guilherme Lavras; Appenzeller, Simone; Costallat, Lilian Tereza Lavras

    2012-07-01

    To review the clinical, laboratory and outcome features of Evans syndrome (ES) in systemic lupus erythematosus (SLE) patients. We reviewed the charts of 953 SLE patients followed up regularly at our service. ES was defined as the presence of hemolytic anemia and thrombocytopenia concomitantly or sequentially. Clinical and laboratory manifestations occurring during the disease course, as well as concomitant diseases and survival was carefully reviewed. We identified ES in 26 of 953 (2.7%) SLE patients. Twenty-three were women with mean age at SLE diagnosis of 25.7 years. Four (15%) patients had disease onset before the age of 16. In the majority of patients (92%), immune thrombocytopenia and AIHA appeared simultaneously at the beginning of SLE. Active features of SLE were a frequent finding concomitant to ES, especially arthritis (77%), malar rash (61.5%), photosensitivity (57.6%), oral ulcers (34.6%), nephritis (73%), serositis (54%), neuropsychiatric (19%) and pulmonary (15%) manifestations. In addition to this multisystemic disease, 34.6% of our patients had an association with another autoimmune disease such as antiphospholipid syndrome. Recurrence of ES was observed in only four (15%) patients. After follow-up time of 8.72 years, 19 patients (73%) were in remission and seven (27%) patients died. ES is a rare manifestation in SLE, occurring in patients with severe multisystemic SLE manifestations. Treatment strategies frequently used in SLE contribute to longer disease remission and less frequent exacerbation than observed in the general population with ES. Copyright © 2011 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  12. Clinical and biological implications of driver mutations in myelodysplastic syndromes.

    Science.gov (United States)

    Papaemmanuil, Elli; Gerstung, Moritz; Malcovati, Luca; Tauro, Sudhir; Gundem, Gunes; Van Loo, Peter; Yoon, Chris J; Ellis, Peter; Wedge, David C; Pellagatti, Andrea; Shlien, Adam; Groves, Michael John; Forbes, Simon A; Raine, Keiran; Hinton, Jon; Mudie, Laura J; McLaren, Stuart; Hardy, Claire; Latimer, Calli; Della Porta, Matteo G; O'Meara, Sarah; Ambaglio, Ilaria; Galli, Anna; Butler, Adam P; Walldin, Gunilla; Teague, Jon W; Quek, Lynn; Sternberg, Alex; Gambacorti-Passerini, Carlo; Cross, Nicholas C P; Green, Anthony R; Boultwood, Jacqueline; Vyas, Paresh; Hellstrom-Lindberg, Eva; Bowen, David; Cazzola, Mario; Stratton, Michael R; Campbell, Peter J

    2013-11-21

    Myelodysplastic syndromes (MDS) are a heterogeneous group of chronic hematological malignancies characterized by dysplasia, ineffective hematopoiesis and a variable risk of progression to acute myeloid leukemia. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling. We sequenced 111 genes across 738 patients with MDS or closely related neoplasms (including chronic myelomonocytic leukemia and MDS-myeloproliferative neoplasms) to explore the role of acquired mutations in MDS biology and clinical phenotype. Seventy-eight percent of patients had 1 or more oncogenic mutations. We identify complex patterns of pairwise association between genes, indicative of epistatic interactions involving components of the spliceosome machinery and epigenetic modifiers. Coupled with inferences on subclonal mutations, these data suggest a hypothesis of genetic "predestination," in which early driver mutations, typically affecting genes involved in RNA splicing, dictate future trajectories of disease evolution with distinct clinical phenotypes. Driver mutations had equivalent prognostic significance, whether clonal or subclonal, and leukemia-free survival deteriorated steadily as numbers of driver mutations increased. Thus, analysis of oncogenic mutations in large, well-characterized cohorts of patients illustrates the interconnections between the cancer genome and disease biology, with considerable potential for clinical application.

  13. Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

    Science.gov (United States)

    Gitiaux, Cyril; Blin-Rochemaure, Nathalie; Hully, Marie; Echaniz-Laguna, Andoni; Calmels, Nadège; Bahi-Buisson, Nadia; Desguerre, Isabelle; Dabaj, Ivana; Wehbi, Samer; Quijano-Roy, Susana; Laugel, Vincent

    2015-07-01

    Cockayne syndrome (CS) is characterized by postnatal growth failure and progressive multi-organ dysfunctions. CSA and CSB gene mutations account for the majority of cases and three degrees of severity are delineated. A peripheral neuropathy is known to be associated with CS but the type, severity and correlation of the nerve involvement with CS subtypes remain unknown in genetically identified patients. Clinical and nerve conduction studies (NCS) in 25 CS patients with CSA (n=13) CSB (n=12) mutations. NCS show a widespread decrease in motor and sensory conduction velocities (CV) in all severe and classical form of CS. In one patient, CV were normal at age 8months but severe slowing was detected at 2years. Conduction block and/or temporal dispersion were observed in 68% of patients. CS is associated with a progressive sensory and motor neuropathy. Signs of segmental demyelination, including conduction blocks, may not be obvious before the age of 2years. CV slowing is correlated with the CS clinical severity. NCS should be performed in patients with suspected CS as an additional tool to guide the diagnosis before molecular studies. Further studies focused on NCS course are required in order to assess its relevance as a biomarker in research therapy projects. Copyright © 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  14. Progress in Rett Syndrome: from discovery to clinical trials.

    Science.gov (United States)

    Percy, Alan K

    2016-09-01

    Fifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled.

  15. Clinical evaluation of Ashokarishta, Ashwagandha Churna and Praval Pishti in the management of menopausal syndrome

    National Research Council Canada - National Science Library

    Modi, Mansi B; Donga, Shilpa B; Dei, Laxmipriya

    2012-01-01

    ... and psychological changes adjustments. The present clinical trial was designed as per Ayurveda clinical trials protocol to evaluate the efficacy of Ashokarishta, Ashwagandha Churna and Praval Pishti in the management of menopausal syndrome...

  16. Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues

    Directory of Open Access Journals (Sweden)

    Francesco Caso

    2013-01-01

    Full Text Available Monogenic autoinflammatory syndromes (MAISs are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.

  17. Hemorrhagic fever with renal syndrome: clinical, pathogenetic and therapeutic aspects

    Directory of Open Access Journals (Sweden)

    Vera F. Pavelkina

    2017-09-01

    Full Text Available Introduction: The republic of Mordovia (RM is an active natural focus of hemorrhagic fever with renal syndrome (HFRS. The incidence of HFRS ranges from 10 to 40 cases per 100 000 people, i.e. exceeds the average Russian rate. The relevance of HFRS is determined by the involvement of many organs and systems in the pathological process. The intoxication syndrome (IS takes a leading place in the pathogenesis of the disease. The development of IS is associated with both the phenomenon of viremia, and the accumulation of endogenous toxins in the body. Despite the large number of recommendations, the problem of IS correction is not completely solved. Antiviral drugs are not applicable in connection with a short period of viremia. Therefore, the basis of treatment is pathogenetic therapy. The purpose of research is to study the clinical, epidemiological and therapeutic aspects of the medium degree HFRS. Materials and Methods: In the course of the study, the patients of two groups were examined: the first group (comparison group, 35 patients received basal therapy; the second group (primary group, 25 patients received a dropwise preparation of remaxol (400 ml for 7 days intravenously. The control group consisted of 30 healthy people of a similar age group. The clinical features of the disease in the Republic of Mordovia, as well as objective indicators were observed. Urea, creatinine, alanine aminotransferase (ALT, aspartate aminotransferase (AST, medium-weight molecules (MWM, circulating immune complexes (CIC, total, effective concentration and binding capacity of albumin (TCA, ECA, BCA, and toxicity index (TI were studied. Results: The infection was mainly in rural areas (78.3 %. Despite the c yclicity of the course, there was no clearly defined period of oliguria in the HFRS clinic (in 22 %, polyuria in 27 % of cases. Hepatomegaly is combined with a change in functional liver samples. The pathological changes indicate the presence of IS, which

  18. Clinical characteristics of scleroderma overlap syndromes: comparisons with pure scleroderma.

    Science.gov (United States)

    Foocharoen, Chingching; Netwijitpan, Sittichai; Mahakkanukrauh, Ajanee; Suwannaroj, Siraphop; Nanagara, Ratanavadee

    2016-09-01

    Scleroderma with characteristics of other connective tissue diseases is called scleroderma overlap syndrome (SOV); the clinical features of which have yet to be investigated among Thai patients. To determine the clinical differences between pure scleroderma and SOV. A historical cohort study was conducted among patients with pure scleroderma versus those with SOV. Subjects were over 18 years of age and followed up at Srinagarind Hospital, Khon Kaen University, Thailand, between January 2006 and December 2011. Four hundred and three medical records were included (276 female vs. 127 male). SOV was found in 68 cases (16.9%): (i) scleroderma-polymyositis overlap (SOV-PM), the most common type of SOV (48 cases; 70.6%); (ii) scleroderma-systemic lupus erythematosus overlap (11 cases; 16.2%); and (iii) scleroderma-rheumatoid arthritis overlap (nine cases; 13.2%). Mean age at onset of non-systemic sclerosis symptoms was 46.9 ± 11.8 years (range, 19.8-74.3). Characteristically, sufferers of SOV as against pure scleroderma were younger, had less frequent anti-topoisomerase I (ATA) and needed moderate- to high-dose steroid and immunosuppressant therapy during follow-up. SOV-PM presented the clinical features of scleroderma at onset and during follow-up looks like pure scleroderma having vasculopathy, severity of skin tightness, and gastrointestinal, cardiopulmonary and renal involvement. Anti-Ro52 was the most common serology among sufferers of SOV (31.6%). ATA was associated with pure scleroderma patients (P = 0.047). SOV rather than pure scleroderma presented in younger Thai scleroderma patients and SOV-PM was the most common subtype and its clinical features were similar to those of pure scleroderma. ATA was strongly associated with the latter. © 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.

  19. More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

    Science.gov (United States)

    Corsten-Janssen, N.; Saitta, S.C.; Hoefsloot, L.H.; McDonald-McGinn, D.M.; Driscoll, D.A.; Derks, R.; Dickinson, K.A.; Kerstjens-Frederikse, W.S.; Emanuel, B.S.; Zackai, E.H.; van Ravenswaaij-Arts, C.M.A.

    2013-01-01

    CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion syndromes are variable, congenital malformation syndromes that show considerable phenotypic overlap. We further explored this clinical overlap and proposed recommendations for the genetic diagnosis of both syndromes. We described 2 patients clinically diagnosed with CHARGE syndrome, who were found to carry a 22q11.2 deletion, and searched the literature for more cases. In addition, we screened our cohort of CHD7 mutation carriers (n = 802) for typical 22q11.2 deletion features and studied CHD7 in 20 patients with phenotypically 22q11.2 deletion syndrome but without haploinsufficiency of TBX1. In total, we identified 5 patients with a clinical diagnosis of CHARGE syndrome and a proven 22q11.2 deletion. Typical 22q11.2 deletion features were found in 30 patients (30/802, 3.7%) of our CHD7 mutation-positive cohort. We found truncating CHD7 mutations in 5/20 patients with phenotypically 22q11.2 deletion syndrome. Differentiating between CHARGE and 22q11.2 deletion syndromes can be challenging. CHD7 and TBX1 probably share a molecular pathway or have common target genes in affected organs. We strongly recommend performing CHD7 analysis in patients with a 22q11.2 deletion phenotype without TBX1 haploinsufficiency and conversely, performing a genome-wide array in CHARGE syndrome patients without a CHD7 mutation. PMID:23885230

  20. ONE-AND-A-HALF SYNDROME. CLINICAL CLASSIFICATION.

    Directory of Open Access Journals (Sweden)

    Ibanez-Valdes LdeF

    2004-01-01

    Full Text Available We studied 19 patients fulfilling clinical diagnostic criteria of One-and-a-half syndrome (OAHS and all of them were grouped in three different types according to their neuro-ophthalmological disturbances. A novel clinical classification is suggested. Patients presenting OAHS secondary to racemose neurocysticercosis were reported for the first time to the medical literature. RESUMEN: Sindrome del Uno y Medio. Clasificación clínica. Se estudiaron 19 pacientes que presentaron clinicamente un "Síndrome del Uno y Medio" en diferentes variantes y de causas diversas. Se agruparon los pacientes en 3 grupos diferentes de acuerdo a sus características neuro-oftalmológicas evitando añadir nuevos eponimos a la ya existente lista de trastornos de la motilidad ocular. Proponemos una clasificacion clínica no reportada con anterioridad y se reporta como causa novedosa la forma racemosa de la neurocisticercosis para una de las variantes clínicas.

  1. Cockayne syndrome: Clinical features, model systems and pathways.

    Science.gov (United States)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L; Bohr, Vilhelm A

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging. Published by Elsevier B.V.

  2. [Classification and clinical analysis of 165 patients with antiphospholipid syndrome.].

    Science.gov (United States)

    Xu, Na; Zhang, Yao; Zhang, Wen; Zhao, Yan; Zeng, Xiao-Feng

    2009-11-01

    Based on 2006 revised classification criteria of definite antiphospholipid syndrome (APS) and definition of new APS subsets, we investigated clinical features of APS patients, correlation between thrombotic events and related antibodies was assessed as well. 165 patients with APS were enrolled and analysed retrospectively. 124 female and 41 male patients were included. 116 cases (70.3%), 34 cases (20.6%), 10 cases (6.1%), and 5 cases (3.0%) were classified as definite APS, probable APS, seronegative APS, and microangiopathic APS (MAPS) respectively. Among 124 patients accompanied with other diseases, 113 (91.1%) were autoimmune diseases, mostly systemic lupus erythematosus (79.6%). 121 (73.3%) patients had episodes of thrombosis, with majority of deep vein thrombosis. The patients with positive test of lupus anticoagulant (LA) only were more likely to have episodes of thrombosis than with positive anticardiolipid antibody (ACL) only (86.0% versus 55.7%; P < 0.05). Among 61 patients with prolonged APTT, the presence of LA was detected in 50 (82.0%) patients, and ACL in 34 (55.7%) patients. APS patients could be classified into several subgroups according to their clinical features. Venous thromboses are more common than arterial thromboses, and positive of LA correlates thrombosis more than ACL.

  3. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

    Science.gov (United States)

    Aharoni, Sharon; Sadeh, Menachem; Shapira, Yehuda; Edvardson, Simon; Daana, Muhannad; Dor-Wollman, Talia; Mimouni-Bloch, Aviva; Halevy, Ayelet; Cohen, Rony; Sagie, Liora; Argov, Zohar; Rabie, Malcolm; Spiegel, Ronen; Chervinsky, Ilana; Orenstein, Naama; Engel, Andrew G; Nevo, Yoram

    2017-02-01

    The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified. Mutations in RAPSN were identified in 13 kinships in Israel. The most common mutation was c.-38A>G detected in 8 patients of Iranian and/or Iraqi Jewish origin. Four different recessive mutations in COLQ were identified in 11 kinships, 10 of which were of Muslim-Arab descent. Mutations in CHRNE were identified in 7 kinships. Less commonly detected mutations were in CHRND, CHAT, GFPT1 and DOK7. In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort. Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations and should be taken into account when the diagnosis of a CMS is suspected. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. 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.

  5. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Directory of Open Access Journals (Sweden)

    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  6. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Science.gov (United States)

    Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia; Knoblovits, Pablo; Costanzo, Pablo R.; Stewart Usher, Jorge; Rey, Rodolfo A.; Martínez, María P.; Aszpis, Sergio

    2012-01-01

    The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases. PMID:22291701

  7. Clinical picture and treatment implication in a child with Capgras syndrome: a case report.

    Science.gov (United States)

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano

    2012-11-27

    Capgras syndrome is a delusional misidentification syndrome characterized by the patient's belief that his or her relatives have been replaced by impostors. Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome.

  8. Clinical profile of PiB-positive corticobasal syndrome.

    Directory of Open Access Journals (Sweden)

    James R Burrell

    Full Text Available BACKGROUND: Corticobasal syndrome (CBS is a multifaceted neurodegenerative disorder characterized by a combination of motor and cognitive deficits. Several different pathological entities, including Alzheimer's pathology, have been described in association with CBS. The present study aimed to establish clinical, neuropsychological, and neuroimaging features that could be useful in the distinction of CBS due to AD pathology from other CBS cases in life based on [(11C] Pittsburgh Compound B positron emission tomography (PiB-PET status. METHODS: Patients with CBS were prospectively recruited from a specialized cognitive disorders clinic. All patients underwent detailed clinical and neuropsychological assessment, with structural imaging using voxel-based analysis of magnetic resonance imaging. Alzheimer's pathology was detected using PiB-PET imaging, and PiB-positive and PiB-negative groups were compared. RESULTS: Fourteen CBS patients meeting defined criteria were included (7 male, 7 female; mean age 66.1+/-6.9 years; median symptom duration was 35.5+/-22.6 months and compared to 20 matched control subjects. Of the 14 patients, 4 were PiB-positive and 10 PiB-negative. There were no significant differences between PiB-positive and PiB-negative CBS patients in age, gender, education, symptom duration, or motor features. PiB-positive patients had greater visuospatial deficits, a higher rate of sentence repetition impairment, and more functional decline. Voxel-based morphometry analyses demonstrated extensive peri-insular and post-central atrophy in both groups, but PiB-positive patients had atrophy that extended to include the posterior part of the left superior temporal gyrus. CONCLUSIONS: Visuospatial function, aspects of language, and the pattern of cerebral atrophy may be useful in distinguishing patients with CBS due to underlying AD pathology.

  9. Irritable bowel syndrome: diagnostic approaches in clinical practice

    Directory of Open Access Journals (Sweden)

    Eugene J Burbige

    2010-09-01

    Full Text Available Eugene J BurbigeDivision of Gastroenterology, Gastrointestinal and Liver Research, John Muir Medical Center, Concord, CA, USABackground: Irritable bowel syndrome (IBS, a functional gastrointestinal disorder long considered a diagnosis of exclusion, has chronic symptoms that vary over time and overlap with those of non-IBS disorders. Traditional symptom-based criteria effectively identify IBS patients but are not easily applied in clinical practice, leaving >40% of patients to experience symptoms up to 5 years before diagnosis.Objective: To review the diagnostic evaluation of patients with suspected IBS, strengths and weaknesses of current methodologies, and newer diagnostic tools that can augment current symptom-based criteria.Methods: The peer-reviewed literature (PubMed was searched for primary reports and reviews using the limiters of date (1999–2009 and English language and the search terms irritable bowel syndrome, diagnosis, gastrointestinal disease, symptom-based criteria, outcome, serology, and fecal markers. Abstracts from Digestive Disease Week 2008–2009 and reference lists of identified articles were reviewed.Results: A disconnect is apparent between practice guidelines and clinical practice. The American Gastroenterological Association and American College of Gastroenterology recommend diagnosing IBS in patients without alarm features of organic disease using symptom-based criteria (eg, Rome. However, physicians report confidence in a symptom-based diagnosis without further testing only up to 42% of the time; many order laboratory tests and perform sigmoidoscopies or colonoscopies despite good evidence showing no utility for this work-up in uncomplicated cases. In the absence of diagnostic criteria easily usable in a busy practice, newer diagnostic methods, such as stool-form examination, fecal inflammatory markers, and serum biomarkers, have been proposed as adjunctive tools to aid in an IBS diagnosis by increasing physicians

  10. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

    Directory of Open Access Journals (Sweden)

    Letícia da Silva Lacerda

    2014-01-01

    Full Text Available Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung’s disease, and neurofibromatosis type I and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions.

  11. Refeeding syndrome with enteral nutrition in children: a case report, literature review and clinical guidelines.

    Science.gov (United States)

    Afzal, N A; Addai, S; Fagbemi, A; Murch, S; Thomson, M; Heuschkel, R

    2002-12-01

    Refeeding syndrome is a potentially fatal complication of the nutritional management of severely malnourished patients. The syndrome almost always develops during the early stages of refeeding. It can be associated with a severe derangement in electrolyte and fluid balance, and result in significant morbidity and mortality. It is most often reported in adults receiving total parenteral nutrition (TPN), although refeeding with enteral feeds can also precipitate this syndrome. We report what we believe to be the first case of refeeding syndrome in an adolescent with newly diagnosed Crohn's disease. This developed within a few days of starting exclusive polymeric enteral nutrition. A systematic literature review revealed 27 children who developed refeeding syndrome after oral/enteral feeding. Of these, nine died as a direct result of complications of this syndrome. We discuss the implications of this syndrome on clinical practice and propose evidence-based guidelines for its management.

  12. CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

    NARCIS (Netherlands)

    Jongmans, M. C. J.; van Ravenswaaij-Arts, C. M. A.; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H. L.; van der Donk, K.; Seminara, S.; Bergman, J. E. H.; Brunner, H. G.; Crowley, W. F.; Hoefsloot, L. H.

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with

  13. [Clinical and therapeutic aspects of alcohol withdrawal syndrome].

    Science.gov (United States)

    Miniati, M; Bani, A; Mauri, M

    1993-09-01

    In this review the authors describe the symptomatology, and the etiopathogenetic hypothesis of alcohol withdrawal syndrome. Many drugs are used in the treatment of alcohol withdrawal syndrome: carbamazepine, clonidine, chlormethiazole, phenytoin and other compounds; actually benzodiazepines are the most important drugs for symptomatic relief to prevent major withdrawal syndrome. Particularly attention is recommended to the period of suspension with the aim of reducing alcohol consumption and correcting alcohol-related psychosocial problems.

  14. Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Mirinae [Dept. of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Cho, Nariya; Moon, Hyeong Gon [Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of); Ahn, Hye Shin [Dept. of Radiology, Chung-Ang University Hospital, Seoul (Korea, Republic of)

    2014-10-15

    Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

  15. [Clinical study of area of Jiangsu province of polycystic ovarian syndrome correlation distribution of traditional Chinese medicine syndrome type and improper diet].

    Science.gov (United States)

    Feng, Yu; Gao, Yue-Ping

    2014-05-01

    Polycystic ovary syndrome (PCOS) is one of the most popular diseases in obstetrics and gynecology research at internal and abroad at present, traditional Chinese medicine(TCM)in the clinical treatment of the disease have the advantage. Clinical epidemiological study of descriptive research method this research adopts investigation, observation of TCM syndromes and improper diet through 401 cases in Jiangsu Province confirmed PCOS patients, to explore the relationship between TCM syndrome type distribution and improper diet factors, and to provide the clinical basis for further etiology of this disease research. TCM syndrome type distribution of the disease is kidney deficiency, phlegm stagnation syndrome, qi stagnation and blood stasis syndrome, syndrome of dampness heat of liver channel and is composed of 4 basic syndromes and formed complex syndrome, and the composite and syndrome type (60.85%); combined with the analysis of traditional Chinese medicine dialectical, Pure empirical syndrome this disease (46.88%), followed by the actual card (45.39%), pure deficiency is rare. Improper diet factors associated with the disease, in which improper diet with different TCM syndrome type distribution significantly related. Stagnation of phlegm dampness syndrome is the main syndrome of the disease type, improper diet factors and every syndrome PCOS type distribution is as follows: the partial eclipse fatness greasy with basic syndromes of phlegm dampness stagnation of kidney deficiency syndrome, the nephrasthenia syndrome is less; eating spicy stimulation by basic syndromes of stagnation of Qi and blood stasis; eating cold people the basic certificate type of qi stagnation and blood stasis; The diet of patients are more prone to stagnation of phlegm dampness syndrome.

  16. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

    OpenAIRE

    Mai, Phuong L.; Malkin, David; Garber, Judy E.; Schiffman, Joshua D.; Weitzel, Jeffrey N.; Strong, Louise C.; Wyss, Oliver; Locke, Luana; Means, Von; Achatz, Maria Isabel; Hainaut, Pierre; Frebourg, Thierry; Evans, D. Gareth; Bleiker, Eveline; Patenaude, Andrea

    2012-01-01

    Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at ...

  17. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  18. DIFFERENTIATION SYNDROME IN PROMYELOCYTIC LEUKEMIA : CLINICAL PRESENTATION, PATHOGENESIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    Eduardo Magalhães Rego

    2011-10-01

    Full Text Available Differentiation syndrome (DS represents a life-threatening complication in patients with acute promyelocytic leukemia (APL undergoing induction therapy with all-trans retinoic acid (ATRA or arsenic trioxide (ATO. It affects about 20-25% of all patients and there are no definitive diagnostic criteria. Clinically, DS is characterized by weight gain, fever not attributable to infection, respiratory distress, cardiac involvement, hypotension, and/or acute renal failure. At the histological point of view, there is an extensive interstitial and intra-alveolar pulmonary infiltration by maturing myeloid cells, endothelial cell damage, intra-alveolar edema, inter-alveolar hemorrhage, and fibrinous exsudates. DS pathogenesis is not completely understood, but it is believed that an excessive inflammatory response is the main phenomenon involved, which results in increased production of chemokines and expression of adhesion molecules on APL cells. Due to the high morbidity and mortality associated with DS, its recognition and the prompt initiation of the treatment is of utmost importance. Dexamethasone is considered the mainstay of treatment of DS, and the recommended dose is 10 mg twice daily by intravenous route until resolution of DS. In severe cases (respiratory or acute renal failure it is recommended the discontinuation of ATRA or ATO until recovery.

  19. [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

    Science.gov (United States)

    Kunze, J; Tolksdorf, M; Wiedemann, H R

    1975-01-01

    We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal. Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatides demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the hetero-chromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we did not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained. Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

  20. Clinical Subtypes of Premenstrual Syndrome and Responses to Sertraline Treatment

    Science.gov (United States)

    Freeman, Ellen W.; Sammel, Mary D.; Lin, Hui; Rickels, Karl; Sondheimer, Steven J.

    2011-01-01

    OBJECTIVE To estimate response of diagnosis and symptom-based subtypes to sertraline treatment. METHODS This was a secondary data analysis for women who were diagnosed with premenstrual syndrome (PMS) or premenstrual dysphoric disorder and treated in three National Institutes of Health-supported clinical trials (N=447). Three PMS subtypes were identified based on predominance of psychological, physical, or both symptom types. Scores for each symptom and a total premenstrual score at baseline and endpoint were calculated from daily symptom diaries. Change from baseline after three treated menstrual cycles (or endpoint if sooner) was estimated using linear regression models adjusted for baseline severity. RESULTS The PMS and premenstrual dysphoric disorder diagnoses improved similarly with sertraline relative to placebo, while symptom-based subtypes had differential responses to treatment. The mixed symptom subtype had the strongest response to sertraline relative to placebo (Daily Symptom Rating [DSR] difference 33.80, 95% CI: 17.16, 50.44, Ppremenstrual dysphoric disorder diagnoses have similar response to sertraline treatment, but symptom-based subtypes have significantly different responses to this treatment. Mixed and psychological symptom subtypes improved while the physical symptom subtype did not improve significantly. Identifying the patient’s predominant symptoms, and their severity is important for individualized treatment and possible response to a selective serotonin reuptake inhibitor. PMID:22105258

  1. Neonatal staphylococcal scalded skin syndrome: clinical and outbreak containment review.

    LENUS (Irish Health Repository)

    Neylon, Orla

    2012-01-31

    Staphylococcal scalded skin syndrome (SSSS) is a toxin-mediated exfoliating skin condition predominated by desquamation and blistering. Neonatal outbreaks have already been reported; however, our outbreak highlights the potential for SSSS following neonatal health promotion measures such as intra-muscular vitamin K administration and metabolic screening (heel prick) as well as effective case containment measures and the value of staff screening. Between February and June 2007, five confirmed cases of neonatal SSSS were identified in full-term neonates born in an Irish regional maternity hospital. All infants were treated successfully. Analysis of contact and environmental screening was undertaken, including family members and healthcare workers. Molecular typing on isolates was carried out. An outbreak control team (OCT) was assembled and took successful prospective steps to prevent further cases. All five Staphylococcus aureus isolates tested positive for exfoliative toxin A, of which two distinct strains were identified on pulsed-field gel electrophoresis analysis. Two cases followed staphylococcal inoculation during preventive measures such as intra-muscular vitamin K administration and metabolic screening (heel prick). None of the neonatal isolates were methicillin resistant. Of 259 hospital staff (70% of staff) screened, 30% were colonised with S. aureus, and 6% were positive for MRSA carriage. This is the first reported outbreak of neonatal SSSS in Ireland. Effective case containment measures and clinical value of OCT is demonstrated. Results of staff screening underlines the need for vigilance and compliance in hand disinfection strategies in maternity hospitals especially during neonatal screening and preventive procedures.

  2. Recurrent Miller Fisher syndrome: clinical and laboratory features.

    Science.gov (United States)

    Heckmann, J G; Dütsch, M

    2012-07-01

    To present two patients with Miller Fisher syndrome (MFS) recurrence after 35 and 44 years and review of the literature on recurring MFS. All identified cases with recurrent MFS were evaluated. Age, gender, clinical features of first and recurrent MFS, course of disease, laboratory findings, therapy and outcome were transformed into tables. Twenty-eight patients (16 men, 12 women; mean age at the first episode 34 years (range 13-57 years); mean age at the latest episode 47 years (range 21-66 years) with a total of 70 MFS episodes were identified. Twenty-one patients had a single recurrence, five patients had two recurrences, one patient had four recurrences and one patient had seven recurrences. The mean interval between attacks was 9.45 years (3 months to 44 years). In 76% of the initial episodes and in 81% of the recurrent episodes, an infectious disease preceded MFS. Additional facial and bulbar symptoms and autonomic disturbances were frequent findings. Cerebrospinal fluid (CSF) and electrodiagnostic findings were unspecific. If tested, autoantibodies against GQ1b had been positive in all episodes. In about half of the patients, immunotherapy was applied. The outcome was favourable in most patients. Recurrence of MFS is a rare quite uniform condition with a mostly favourable prognosis. © 2011 The Author(s) European Journal of Neurology © 2011 EFNS.

  3. Horner syndrome following thyroid surgery: The clinical and pharmacological presentations

    Directory of Open Access Journals (Sweden)

    Giuseppe Giannaccare

    2016-01-01

    Full Text Available Purpose: To report the clinical and pharmacological findings of a patient with iatrogenic Horner syndrome (HS which occurred after thyroid surgery. Case Report: A 29-year-old man was referred to our emergency ward due to anisocoria and unilateral eyelid ptosis reported by the patient immediately after a recent thyroidectomy for a papillary carcinoma. Ophthalmologic examination revealed 3 mm ptosis of the right eyelid. In dim illumination, the right and left pupil size was measured 3 and 6 mm, respectively. In bright illumination, the amount of anisocoria decreased; the near pupillary reaction was intact. Brain and neck magnetic resonance imaging and chest radiography were normal. Pharmacological tests with 10% cocaine, 1% hydroxyamphetamine and 1% phenylephrine localized the interruption of the oculosympathetic pathway with postganglionic third-order neuron involvement. After 6 months of follow-up, no sign of recovery was recorded. Conclusion: Despite HS could appear to be a rare complication of thyroid surgery, it is of importance for the neck surgeons to be aware that oculosympathetic pathway (OSP is a potentially vulnerable structure with close anatomical relationship with the thyroid gland, and for the ophthalmologists that HS may occur secondary to neck surgery and taking an accurate history is mandatory.

  4. Clinical Profiles, Occurrence, and Management of Adolescent Patients with HAIR-AN Syndrome

    OpenAIRE

    Hatim A. Omar; Stephanie Logsdon; Jessica Richards

    2004-01-01

    The syndrome of hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN) is a subphenotype of the polycystic ovary syndrome. It is one of the most common causes of menstrual problems, hyperandrogenic symptoms, and insulin resistance among young women. Review of clinical data in an outpatient adolescent clinic showed that of the 1,002 young women (ages 10—21 years) attending the clinic over a 2-year period, 50 (5%) were diagnosed with HAIR-AN syndrome. Mean age of the patients ...

  5. Moebius syndrome: clinical features, diagnosis, management and early intervention.

    Science.gov (United States)

    Picciolini, Odoardo; Porro, Matteo; Cattaneo, Elisa; Castelletti, Silvia; Masera, Giuseppe; Mosca, Fabio; Bedeschi, Maria Francesca

    2016-06-03

    Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.

  6. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

    NARCIS (Netherlands)

    K. Tatton-Brown (Katrina); A. Murray (Anna); S. Hanks (Sandra); J. Douglas (Jenny); R. Armstrong (Ruth); S. Banka (Siddharth); L.M. Bird (Lynne); C.L. Clericuzio (Carol); V. Cormier-Daire (Valerie); T. Cushing (Tom); F. Flinter (Frances); S. Jacquemont (Sébastien); S. Joss (Shelagh); E. Kinning (Esther); S.A. Lynch; A. Magee (Alex); V. Mcconnell (Vivienne); A. Medeira (Ana); K. Ozono (Keiichi); M. Patton (Michael); J. Rankin (Julia); D.J. Shears (Deborah); M.E.H. Simon (Marleen); M. Splitt (M.); V. Strenger (Volker); K.E. Stuurman (Kyra); C. Taylor (Clare); H. Titheradge (Hannah); L. van Maldergem (Lionel); I.K. Temple; T.J. Cole (Trevor); S. Seal (Sheila); N. Rahman (Nazneen)

    2013-01-01

    textabstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with

  7. Drug-induced Brugada syndrome: Clinical characteristics and risk factors

    NARCIS (Netherlands)

    Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G.; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami

    2016-01-01

    Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The

  8. The glucagonoma syndrome and necrolytic migratory erythema : A clinical review

    NARCIS (Netherlands)

    van Beek, André P.; de Haas, Ellen R.M.; van Vloten, Willem A.; Lips, Cees J.M.; Roijers, Janine F.M.; Canninga-van Dijk, Marijke R.

    2004-01-01

    The glucagonoma syndrome is a rare disease in which a typical skin disorder, necrolytic migratory erythema, is often one of the first presenting symptoms. Weight loss and diabetes mellitus are two other prevalent characteristics of this syndrome. Necrolytic migratory erythema belongs to the recently

  9. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

    NARCIS (Netherlands)

    Shabo, G.; Scheffer, H.; Cruysberg, J.R.M.; Lammens, M.M.Y.; Pasman, J.W.; Spruit, M.; Willemsen, M.A.A.P.

    2005-01-01

    Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the

  10. Clinical Evaluation of Dementia in Down's Syndrome: A Preliminary Report.

    Science.gov (United States)

    Thase, M. E.; And Others

    1982-01-01

    Neuropsychiatric evaluation revealed that 40 institutionalized adults with Down's Syndrome scored significantly lower than controls on ratings of orientation, digit span recall, and object identification. Scores declined with age. Seventy-five percent of the Down's Syndrome Ss had one or more signs of dementia (Alzheimer type) compared to only 30…

  11. Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

    Directory of Open Access Journals (Sweden)

    Hisham Megahed

    2015-03-01

    Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype.

  12. [Terson syndrome in a course of cerebral aneurysm--clinical assessment].

    Science.gov (United States)

    Nowosielska, Agnieszka; Czarnecki, Wojciech; Zabek, Mirosław

    2003-01-01

    40 patients with ruptured cerebral aneurysm were screened by an ophthalmologist for the presence of Terson syndrome (TS) and other forms of ocular haemorrhages. Terson syndrome was found in 10% of cases and 37.5% of cases presented other forms of ocular bleeding. The most significant neurological symptom leading to diagnose TS, was coma episode occurring in any moment of clinical observation.

  13. Obstructive sleep apnea in young infants with Down syndrome evaluated in a Down syndrome specialty clinic.

    Science.gov (United States)

    Goffinski, Alida; Stanley, Maria A; Shepherd, Nicole; Duvall, Nichole; Jenkinson, Sandra B; Davis, Charlene; Bull, Marilyn J; Roper, Randall J

    2015-02-01

    Children with Down syndrome (DS) experience congenital and functional medical issues that predispose them to obstructive sleep apnea (OSA). Research utilizing stringent age criteria among samples of infants with DS and OSA is limited. This study examines clinical correlates of OSA among infants with DS. A retrospective chart review was conducted of infants ≤6 months of age referred to a DS clinic at a tertiary children's hospital over five-years (n = 177). Chi-square tests and binary logistic regression models were utilized to analyze the data. Fifty-nine infants underwent polysomnography, based on clinical concerns. Of these, 95% (56/59) had studies consistent with OSA. Among infants with OSA, 71% were identified as having severe OSA (40/56). The minimum overall prevalence of OSA among the larger group of infants was 31% (56/177). Significant relationships were found between OSA and dysphagia, congenital heart disease (CHD), prematurity, gastroesophageal reflux disease (GERD), and other functional and anatomic gastrointestinal (GI) conditions. Results indicate that odds of OSA in this group are higher among infants with GI conditions in comparison to those without. Co-occurring dysphagia and CHD predicted the occurrence of OSA in 36% of cases with an overall predictive accuracy rate of 71%. Obstructive sleep apnea is relatively common in young infants with DS and often severe. Medical factors including GI conditions, dysphagia and CHD may help to identify infants who are at greater risk and may warrant evaluation. Further studies are needed to assess the impact of OSA in infants with DS. © 2015 Wiley Periodicals, Inc.

  14. Association of neuropsychiatric syndromes with global clinical deterioration in Alzheimer's disease patients.

    Science.gov (United States)

    Stella, Florindo; Laks, Jerson; Govone, José Sílvio; de Medeiros, Kate; Forlenza, Orestes Vicente

    2016-05-01

    Data on the relationship between behavioral disturbances in Alzheimer's disease (AD) and global clinical deterioration is still controversial. The purpose of this study was to explore potential correlations of neuropsychiatric syndromes with global clinical deterioration in patients with AD, with particular consideration on severity levels of dementia. AD patients (n = 156) aged 76.7 years from Brazilian clinical centers were assessed to diagnose the five neuropsychiatric syndromes measured by the Neuropsychiatric Inventory-Clinician rating scale (NPI-C): psychosis, agitation, affective, apathy, and sleep. These syndromes were then analyzed for their correlation with the Global Deterioration Scale (GDS). To analyze the association of neuropsychiatric syndromes with the GDS, considering the total sample and patients grouped by dementia severity levels, we applied the coefficient of multiple correlation (Ryy), adjusted multiple linear regression, and the coefficient of determination (R2yx). We tested the significance of correlation coefficients using the Student t-test for simple correlations (a single independent variable) and analysis of variance (ANOVA) for multiple correlations. ANOVA was also used to compare means of demographic and some clinical variables at different levels of dementia. For the total sample, apathy and agitation syndromes were most strongly correlated (0.74; 0.72, respectively) with clinical deterioration according to the GDS, followed by psychosis (0.59), affective (0.45), and sleep syndromes (0.34). Agitation significantly correlated with mild and moderate dementia (CDR 1: 0.45; and CDR 2: 0.69, respectively). At CDR 2, agitation and affective syndromes were most strongly correlated (0.69; 0.59, respectively) with clinical deterioration while at CDR 3, the apathy syndrome was most strongly correlated with clinical deterioration (0.52). Agitation, apathy, and affective disorders were the syndromes most strongly correlated with global

  15. Clinical Heterogeneity of Guillain-Barré Syndrome in the Emergency Department: Impact on Clinical Outcome

    Directory of Open Access Journals (Sweden)

    Athanasios Papathanasiou

    2016-01-01

    Full Text Available Guillain-Barré syndrome (GBS is mainly classified into acute inflammatory demyelinating polyneuropathy (AIDP and acute motor axonal neuropathy (AMAN. Although diagnosis of GBS requires progressive weakness and universal areflexia or hyporeflexia, cases of GBS with preserved or increased deep tendon reflexes (DTRs have been increasingly recognized. We report three cases of GBS, presenting at a single unit in six months. Our first case presented with pure sensory symptoms. The second case had nonspecific generalized weakness, while the third presented with typical ascending weakness. One of our patients had preserved DTRs, while the other two had increased DTRs. Our two cases with hyperreflexia were found to have a preceding Campylobacter jejuni infection and anti-ganglioside antibodies, and their electrophysiological studies revealed AMAN. The other case had an AIDP. Only one case was offered a diagnosis and treatment from the first emergency department (ED visit and had a better clinical outcome. Clinical diagnosis of GBS in the ED can be challenging. Delay in diagnosis of GBS in the ED is common due to cases with intact or increased DTRs, atypical pattern of weakness, or pure sensory symptoms. Emergency physicians should be aware of GBS clinical heterogeneity, because early diagnosis and treatment improve clinical outcome.

  16. Sudden onset of Cotard’s syndrome as a clinical sign of brain tumor

    OpenAIRE

    Gonçalves, Luís Francisco Moreira; Tosoni, Alberto

    2016-01-01

    Letter to the editor [Excerpt] We report the clinical case where the sudden onset of a Cotard syndrome in a 69 year old lady lead to the discovery of a multifocal glioblastoma in the right temporo-parietal lobe. Cotard’s syndrome is a rare psychiatric disorder in which the afflicted patient believes he or she is dead. These nihilistic thoughts are the expression of a rare syndrome first described by Jules Cotard in late XIX century. The Cotard’s syndrome has been studied and it seems that ...

  17. Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    V.A. Klymenko

    2015-10-01

    Full Text Available A clinical case of keratitis-ichthyosis-deafness (KID syndrome in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants.

  18. Are personality patterns and clinical syndromes associated with patients' motives and percieved outcome of othognathic surgery?

    DEFF Research Database (Denmark)

    Petersen, Jesper Øland; Jensen, J.; Melsen, Birte

    2010-01-01

    A study of surgical-orthodontic patients was performed to assess whether signs of personality patterns and psychologically defined clinical syndromes influenced patients' motives for treatment, perceived oral function, self-concept, social interaction, and overall satisfaction with treatment....

  19. Molecular and clinical characterization of Angelman syndrome in Chinese patients.

    Science.gov (United States)

    Bai, J-L; Qu, Y-J; Jin, Y-W; Wang, H; Yang, Y-L; Jiang, Y-W; Yang, X-Y; Zou, L-P; Song, F

    2014-03-01

    Angelman syndrome (AS) is a neurobehavioral disorder caused by lack of function of the maternal copy of the ubiquitin-protein ligase E3A (UBE3A) gene. In our study, 49 unrelated patients with classic AS phenotypes were confirmed by methylation-specific PCR (MS-PCR) analysis, short tandem repeat linkage analysis, and mutation screening of the UBE3A gene. Among the Chinese AS patients, 83.7% (41/49) had deletions on maternal chromosome 15q11.2-13. Paternal uniparental disomy, imprinting defects, and UBE3A gene mutations each accounted for 4.1% (2/49). Two AS patients were confirmed by MS-PCR analysis, but the pathogenic mechanism was unknown because their parents' samples were unavailable. Of the two described UBE3A gene mutations, that is, p.Pro400His (c.1199C>A) and p.Asp563Gly (c.1688A>G), the latter has not been reported previously. Mutation transmission analysis showed that the p.Pro400His and p.Asp563Gly mutations originated from asymptomatic mothers. The patients with the maternal deletion showed AS clinical manifestations that were consistent with other studies. However, the incidence of microcephaly (36.7%, 11/30) was lower than that in the Caucasian population (approximately 80%), but similar to that of the Japanese population (34.5%). Our study demonstrated that the occurrence of microcephaly in AS may vary among different populations. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Molecular and clinical study of 61 Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Saitoh, Shinji; Harada, Naoki; Jinno, Yoshihiro; Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan); Imaizumi, Kiyoshi; Kuroki, Yoshikazu; Fukushima; Yoshimitsu; Sugimoto, Tateo; Renedo, Monica

    1994-08-15

    We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without deletion. Among 53 sporadic cases, 37 (70%) had molecular deletion, which commonly extended from D15S9 to D15S12, although not all deletions were identical. Of 8 familial cases, 3 sibs from one family had a molecular deletion involving only 2 loci, D15S10 and GABRB3, which define the critical region for AS phenotypes. The parental origin of deletion, both in sporadic and familial cases, was exclusively maternal and consistent with a genomic imprinting hypothesis. Among sporadic and familial cases without deletion, no uniparental disomy was found and most of them were shown to inherit chromosomes 15 from both parents (biparental inheritance). A discrepancy between cytogenetic and molecular deletion was observed in 14 (26%) of 53 patients in whom cytogenetic analysis could be performed. Ten (43%) of 23 patients with a normal karyotype showed a molecular deletion, and 4 (13%) of 30 patients with cytogenetic deletion, del(15) (q11q13), showed no molecular deletion. Most clinical manifestations, including neurological signs and facial characteristics, were not distinct in each group except for hypopigmentation of skin or hair. Familial cases with submicroscopic deletion were not associated with hypopigmentation. These findings suggested that a gene for hypopigmentation is located outside the critical region of AS and is not imprinted. 37 refs., 2 figs., 4 tabs.

  1. Guillain-Barré syndrome: clinical profile and management

    Directory of Open Access Journals (Sweden)

    Sudulagunta, Sreenivasa Rao

    2015-09-01

    Full Text Available Introduction: Guillain-Barré syndrome (GBS is a fulminant polyradiculoneuropathy that is acute, frequently severe and autoimmune in nature. Etiology of GBS is incompletely understood, prognosis is usually good with early detection and prompt treatment. This retrospective study was done to evaluate clinical profile, epidemiological, laboratory, and electrodiagnostic features of patients with GBS and mode of management, complications and prognostic factors.Methods: Data of 1,166 patients admitted with GBS or presented to outpatient department (previous medical records with GBS between January 2003 and January 2014 were analyzed. Results: No difference in genders noted. Around 35% of patients are above 50 years of age. Poor control of diabetes with mean HbA of 8.1 ± 2.11 is found on analysis. Seasonal occurrence in GBS is prominent in winter 484 (41.50% and mechanically ventilated were 449 (38.50% patients. 48 (4.11% deaths were attributed to GBS. Neurological analysis revealed cranial nerve involvement in 407 (34.90% patients, facial palsy in 401 (34.39% and ataxia in 88 (7.54% patients. Most patients in plasma exchange group belonged to the lower socio-economic status. Mean cerebrospinal fluid (CSF protein levels was (n=962 113.8 ± 11.8 mg/dl. Conduction block determined indirectly by absent H-reflex was noted in 891 (90.64% patients. No difference in complications and outcome is found in treatment regimens of intravenous immunoglobulin (IVIG and plasma exchange.Conclusion: Seasonal occurrence predominantly in winter is noted. Peak flow test may be a predictor of assessing requirement of mechanical ventilation and prognosis. Conduction block is the major abnormality noted in electrophysiological studies and proximal nerve segment assessing with Erb’s point stimulation has high predictive value. IVIG treatment is more expensive but is associated with less duration of hospital stay.

  2. Psychologists' Clinical Practices in Assessing Dementia in Individuals with Down Syndrome

    Science.gov (United States)

    Auty, Ellen; Scior, Katrina

    2008-01-01

    There are now ample guidelines for the assessment and diagnosis of possible dementia in individuals with intellectual disabilities (ID) and Down syndrome. However, little is known about their implementation in clinical practice. This study set out to examine the clinical practice of one key professional group, namely clinical psychologists. A…

  3. INHERITED PATHOLOGY OF β2-LAMININ (PIERSON SYNDROME: CLINICAL AND GENETIC ASPECTS

    Directory of Open Access Journals (Sweden)

    M.Yu. Kagan

    2010-01-01

    Full Text Available For the last decade a great successes were attained in the study of molecular bases of glomerular diseases. It was certain that the most frequent reasons of congenital and infantile nephrotic syndrome are mutations in the genes of NPHS1, NPHS2, and WT1. Nevertheless, until now, a number of patients, having combination of early nephrotic syndrome with inherent pathology of other organs, which etiology remains un known. These cases continue to be intensively probed. One of the most important recent achievements in understanding of molecular mechanisms of early nephrotic syndrome is the discovery of mutations of gene of LAMB2, encoding β2 laminin, as the cause of Pearson syndrome (OMIM#609049. In this article the author presents the basic genetic and clinical descriptions of this recently identified pathology. Key words: Pearson syndrome, congenital nephrotic syndrome, β2 laminin, malformation of organ of vision. (Pediatric Pharmacology. – 2010; 7(3:114-117

  4. Human heterotaxy syndrome – from molecular genetics to clinical features, management, and prognosis – .

    Science.gov (United States)

    Shiraishi, Isao; Ichikawa, Hajime

    2012-01-01

    Human heterotaxy syndrome is characterized by a wide variety of cardiac and extracardiac congenital malformations that are primarily induced by disorders of the left-right axis determination during early embryonic development. The cellular and molecular mechanisms of the left-right asymmetry have been extensively investigated in the past decade and the developmental mechanisms of the syndrome have been considerably elucidated. Medical and surgical management and treatment of heterotaxy syndrome have advanced as well. However, prognosis of the disease still remains unsatisfactory because the syndrome is often associated with a combination of complicated congenital heart diseases. Management of heterotaxy patients, particularly those who have undergone the Fontan procedure, is now one of the most important issues in pediatric and adult congenital heart disease clinics. In this review, we focus on the recent advances in knowledge of the genetic and molecular pathogenesis of heterotaxy syndrome, as well as its clinical features, management, and prognosis.

  5. Clinical Study on Five Cases of Carpal tunnel syndrome

    National Research Council Canada - National Science Library

    Kim Il Hwan

    2001-01-01

    Objections : The purpose of the study was to evaluate the effectiveness of treating the carpal tunnel syndrome by using both the Herbal Acupuncture and herbal medicine therapy on five cases. Methods...

  6. Usher syndrome in Puerto Rico: a clinical and genetic study.

    Science.gov (United States)

    Colón-Casasnovas, Jaime E; Izquierdo, Natalio J; Millán, Jose M

    2010-01-01

    To evaluate patients with the Usher syn drome in Puerto Rico. Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M. Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.

  7. THE CLINICAL CASE OF STARK–KAESER TYPE SCAPULOPERONEAL SYNDROME

    National Research Council Canada - National Science Library

    T. A. Valikova; V. M. Alifirova; I. V. Bychkova; K. Yu. Sabashkina

    2015-01-01

    We present a rare case of Stark–Kaeser type scapuloperoneal syndrome type with mild weakness and hypotrophy in proximal limb, with rough paresis of feet, walking dysfunction and slowly-progressive course...

  8. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

    Science.gov (United States)

    Castori, Marco

    2015-12-01

    Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

  9. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  10. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Thang S Han

    2016-02-01

    Full Text Available The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30–40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5–10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35–40 kg/m 2 with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

  11. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease.

    Science.gov (United States)

    Han, Thang S; Lean, Mike Ej

    2016-01-01

    The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30-40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5-10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35-40 kg/m(2) with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

  12. A Clinical Pharmacist's Role in Screening for Metabolic Syndrome in a Rural Pediatric Ambulatory Clinic

    Science.gov (United States)

    Benavides, Sandra; Kohler, Lisa A.; Souffrant, Garry

    2011-01-01

    Purpose: The prevalence of metabolic syndrome in the pediatric population is increasing. Barriers, including the lack of consensus of a definition for metabolic syndrome and time constraints for the pediatrician, may limit the identification and diagnosis of metabolic syndrome in children. The objective of this pilot study was to evaluate the role…

  13. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

    Science.gov (United States)

    Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard

    2017-03-01

    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  14. 263 Clinical Features of Drug Rash with Eosinophilia and Systemic Symptoms Syndrome Caused by Antituberculous Medications

    OpenAIRE

    Kim, Sang-Ha; Lee, Shun Nyung; Lee, Seok Jeong; Kim, Chong Whan; Lee, Won Yeon; Yong, Suk Joong; Chul Shin, Kye

    2012-01-01

    Background Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is one of severe adverse drug reactions. Aromatic anticonvulsants and sulfonamides are the most common causes of DRESS syndrome. However, there have been only 2 case reports of DRESS syndrome induced by antituberculous medication. This study was aimed to observe the clinical features of patients with DRESS syndrome caused by antituberculous medications. Methods We retrospectively revealed the clinical and laboratory...

  15. The clinical significance of pregnancy in Brugada syndrome.

    Science.gov (United States)

    Rodríguez-Mañero, Moisés; Casado-Arroyo, Rubén; Sarkozy, Andrea; Leysen, Eva; Sieira, Juan Antonio; Namdar, Mehdi; Conte, Gulio; Levinstein, Moisés; Chierchia, Gian-Battista; de Asmundis, Carlo; Brugada, Pedro

    2014-03-01

    Little is known about the risks and outcomes of pregnancy in women with Brugada syndrome. We therefore evaluated pregnancy outcomes and the influence of pregnancy in patients with Brugada syndrome. A retrospective analysis was performed in all pregnant women with Brugada syndrome. We included 104 women with a total of 219 deliveries. There were 15 spontaneous abortions. One infant died suddenly during the night 3 months after birth. Six pregnant women reported they had experienced at least 1 syncope during the pregnancy. Of the 3 women who received an implantable cardioverter-defibrillator before the pregnancy, none received arrhythmia episodes. There were no events during the pregnancy in 4 patients with a previously aborted sudden cardiac death. Of 24 patients with syncope when not pregnant, 18 were asymptomatic and 6 experienced a recurrent syncope during the pregnancy. During the follow-up (mean follow-up 298.9 days; 95% confidence interval, 289.6-308.2), 2 women received appropriate shocks. In this retrospective, single-center study, serious events were not more frequent during pregnancy and the peripartum period in women with Brugada syndrome. The occurrence of syncope during pregnancy was not associated with a worst outcome in the peri- and postpartum periods or during follow-up. The reported rate of miscarriage and sudden infant death will require further studies to confirm or rule out its association with Brugada syndrome. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  16. Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

    Science.gov (United States)

    Smith, Elisabeth J; Allantaz, Florence; Bennett, Lynda; Zhang, Dongping; Gao, Xiaochong; Wood, Geryl; Kastner, Daniel L; Punaro, Marilynn; Aksentijevich, Ivona; Pascual, Virginia; Wise, Carol A

    2010-11-01

    PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an autosomal dominant, hereditary auto-inflammatory disease arising from mutations in the PSTPIP1/CD2BP1 gene on chromosome 15q. These mutations produce a hyper-phosphorylated PSTPIP1 protein and alter its participation in activation of the "inflammasome" involved in interleukin-1 (IL-1β) production. Overproduction of IL-1β is a clear molecular feature of PAPA syndrome. Ongoing research is implicating other biochemical pathways that may be relevant to the distinct pyogenic inflammation of the skin and joints characteristic of this disease. This review summarizes the recent and rapidly accumulating knowledge on these molecular aspects of PAPA syndrome and related disorders.

  17. Mazabraud's syndrome. New clinical case and review of findings.

    Science.gov (United States)

    Ramírez Mejía, Alex Roberto; Moreno Casado, María José; Ahumada Pavez, Nicolás Rodrigo; Rojas Soldado, María Ángeles

    Intramuscular myxomas are benign and rare tumors that affects predominantly the lower limbs. The association of myxomas and fibrous dysplasia, usually polyostotic, is rarer. This association is known as Mazabraud's syndrome, of which about 81 cases have been described in the literature. We present a new case of this uncommon association to emphasise the importance of recognizing this syndrome in the diagnosis and appropriate management of the patient. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  18. The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.

    Science.gov (United States)

    Pavlović, Milen; Neubauer, David; Al Tawari, Asma; Heberle, Lada Cindro

    2014-10-01

    Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome. We describe two brothers (ages 7 and 12 years) from consanguineous parents of Saudi ancestry. Along with the established main clinical features of this syndrome, these boys exhibited certain novel and distinctive phenotypic features (congenital hypothyroidism and autistic-like behavior with intermittent repetitive hand-flapping movements). Genetic studies revealed the presence of homozygous pathogenic STAMPB mutation. This report presents the longest follow-up of patients with microcephaly-capillary syndrome so far reported and emphasize the syndrome's phenotype variability. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

    Directory of Open Access Journals (Sweden)

    Sana Durrani

    2016-04-01

    Full Text Available Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T predicted to cause premature protein termination (p.Arg200∗. We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.

  20. Shaken baby syndrome: pathogenetic mechanism, clinical features and preventive aspects.

    Science.gov (United States)

    Vitale, A; Vicedomini, D; Vega, G R; Greco, N; Messi, G

    2012-12-01

    The shaken baby syndrome (SBS) is an extremely serious form of child abuse and a leading cause of death and disability in childhood. The syndrome usually occurs in infants younger than 1 year when a parent or a care-giver tries to stop the baby from crying by vigorous manual shaking. The repetitive oscillations with rotational acceleration of the head can result in injuries of both vascular and neuronal structures. The most frequent injuries associated with SBS include encephalopathy, retinal hemorrhages, and subdural hemorrhage. Fractures of the vertebrae, long bones, and ribs may also be associated with the syndrome. Victims of abuse have various presenting signs and symptoms ranging from irritability, decreased responsiveness and lethargy to convulsions, and death. Diagnosis is often difficult because usually parents or caregivers not tell the truth about what has happened to their child and because usually there is no external evidence of trauma. However, the syndrome might be suspected if the information provided are vague or changing and when the child presents with retinal hemorrhages, subdural hematoma, or fractures that cannot be explained by accidental trauma or other medical conditions. Of infants who are victims of SBS, approximately 15% to 38% die and 30% are at risk of long-term neurologic sequelae, including cognitive and behavioural disturbances, motor and visual deficits, learning deficits and epilepsy. Parents and caregivers must be warned about the dangers of shaking infants.

  1. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

    Directory of Open Access Journals (Sweden)

    Hassan Hashemi

    2017-01-01

    Full Text Available The hyperimmunoglobulin E syndromes (HIESs are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE, recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab are hoped to be successful treatment in future.

  2. Ectopic ACTH syndrome: a clinical challenge | Tsabedze | Journal of ...

    African Journals Online (AJOL)

    A patient was managed in our endocrinology unit with ectopic Cushing's syndrome from an adrenocorticotropic hormoneproducing neuroendocrine carcinoma of the anal canal. There was limited response to standard therapy, which made it difficult to correct the electrolyte and metabolic derangements associated with the ...

  3. The patterns of clinical presentations of cerebellar syndromes ...

    African Journals Online (AJOL)

    Gait-ataxia was the most common sign (83%). Cerebrovascular disease was the most common aetiology (25%). Conclusion: Cerebellar syndromes are not rare in Sudan. However, they were diagnosed more commonly at the central regions of the country probably because of more awareness of patients and better facilities

  4. Gut fermentation syndrome | Fayemiwo | African Journal of Clinical ...

    African Journals Online (AJOL)

    It has been documented among few individuals who became intoxicated after consuming carbohydrates, which became fermented in the gastrointestinal tract. These claims of intoxication without drinking alcohol, and the findings on endogenous alcohol fermentation are now called Gut Fermentation Syndrome. This review ...

  5. Epidemiological and clinical aspects of the Guillain-Barre Syndrome

    NARCIS (Netherlands)

    R. van Koningsveld (Rinske)

    2001-01-01

    textabstractThe Guillain-Barre syndrome (GBS) is an acute immune-mediated disorder of the peripheral nerves. The essential features are a rapidly progressive, more or less symmetrical weakness of the limbs and decreased or absent tendon reflexes. The weakness reaches its nadir (maximum severity) by

  6. Revised guidelines for the clinical management of Lynch syndrome (HNPCC)

    DEFF Research Database (Denmark)

    Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja

    2013-01-01

    Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines...

  7. [Clinical and pathological features of 16 patients with Gilbert syndrome and 2 cases with genetic analysis].

    Science.gov (United States)

    Peng, Xiang-xin; Wang, Tai-ling

    2008-05-01

    To summarize the clinical and pathological features of Gilbert syndrome. The clinical features and liver histological findings of 16 cases of Gilbert syndrome were reviewed. Of the 16 cases (13 males and 3 females, with an age range from 14 to 40 years), all had recurrent jaundice, unconjugated hyperbilirubinemia and lipofuscin granules in the hepatocytes around the hepatic perivenular areas. The genetic analysis of the two patients showed that the site of genetic mutations were located at exon 1 (Gly71Arg). The diagnosis of Gilbert disease can be improved by combining the data of clinical features, the genetic analysis findings and the histological changes of the livers of the patients.

  8. [Allgrove syndrome in the mainland of China: clinical report and mutation analysis].

    Science.gov (United States)

    Gong, Chun-xiu; Wen, Ya-ran; Zhao, Xiu-li; Su, Chang; Cao, Bing-yan; Zhang, Xue

    2007-06-01

    Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia and alacrima and many cases have multi-systems disorder: endocrine, gastrointestinal tract, eyes and nervous system. This syndrome is also known as achalasia-addisonianism-alacrima syndrome or triple A syndrome. Allgrove syndrome is now known to be caused by mutations of AAAS gene encoding the aladin protein. In the present paper, we report a Chinese mainland girl with Allgrove syndrome with mutations in the AAAS gene. The patient was a 7-year-old girl complained of coma and dark skin; she was treated as Addison disease for 2 years and had vomiting for 9 months before the second admission. Gene analysis was performed after extracting genomic DNA by amplification and sequencing of the specific fragments of AAA gene. The patient was confirmed to have adrenal insufficiency at the age of 5 years and 6 months. During the second hospitalization, she was found to have a remarkable brisk reflexion, bilateral optic nerve atrophy, alacrima and achalasia besides ACTH resistance. The girl was born to consanguineous parents. Based on these findings, she was diagnosed as having Allgrove syndrome. Mutation analysis revealed a novel homozygous deletion of a single G, c.771delG, in exon 8 of the AAAS gene. This frame shift mutation was predicted to create a premature stop codon at locus 290, p.R258GfsX33, leading to a truncated and non-functioning aladin protein. Both the parents were heterozygous for the mutation. The clinical manifestations and AAAS gene mutations analysis confirmed the diagnosis of Allgrove syndrome. Gene analysis indicated that this syndrome is an autosomal recessive inherent disorder. ALADIN is significant for the normal cell function. When compared with reported cases, it seems that there are no remarkable relation between gene mutation loci and clinical manifestations in Allgrove syndrome.

  9. Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

    NARCIS (Netherlands)

    Sijmons, Rolf H.; Greenblatt, Marc S.; Genuardi, Maurizio

    Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive results for DNA Mismatch Repair (MMR) genes reporting DNA changes that are unclear from a clinical point of view. These changes are referred to as variants of unknown, or unclear, clinical significance

  10. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients

    NARCIS (Netherlands)

    Trier, D.C. van; Vos, A.M. de; Draaijer, R.W.; Burgt, I. van der; Draaisma, J.M.T.; Cruysberg, J.R.M.

    2016-01-01

    PURPOSE: To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). DESIGN: Prospective cross-sectional clinical and genetic study in a tertiary referral center. PARTICIPANTS: Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically

  11. Prevalence of burnout syndrome in clinical nurses at a hospital of excellence.

    Science.gov (United States)

    Ribeiro, Vivian F; Filho, Celso Ferreira; Valenti, Vitor E; Ferreira, Marcelo; de Abreu, Luiz Carlos; de Carvalho, Tatiana Dias; Xavier, Valdelias; de Oliveira Filho, JapyAngeli; Gregory, Pedro; Leão, Eliseth Ribeiro; Francisco, Natascha G; Ferreira, Celso

    2014-01-01

    Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, social and family life, leisure activities, extra work activities, physical activities, and work-related health problems. We conducted a cross-sectional, quantitative, prospective epidemiological study with 188 surgical clinic nurses. We used the Maslach Burnout Inventory (MBI), which is a socio-demographic questionnaire and the most widely used instrument to assess Burnout syndrome (three basic dimensions: emotional exhaustion, despersonalization and professional underachievement). The socio-demographic profile questionnaire wascomposed of questions regarding identification, training, time at work, work characteristics and personal circumstances. The prevalence of Burnout syndrome was higher (10.1%) and 55, 4% of subjects had a propensity to develop this syndrome. The analysis of the socio-demographic profile of the nurse sample studied showed that most nurses were childless married women, over 35 years of age, working the day shift for 36 hours weekly on average, with 2-6 years of post-graduation experience, and without extra employments. Factors such as marital status, work load, emotion and work related stress aggravated the onset of the syndrome. The prevalence and propensity of Burnout syndrome were high. Some factors identified can be useful for the adoption of preventive actions in order to decrease the prevalence of the clinical nurses Burnout syndrome.

  12. Clinical study on treatment of Carpal tunnel syndrome using Scolopendrid herbal acupuncture

    Directory of Open Access Journals (Sweden)

    Lim Jeong a

    2005-02-01

    Full Text Available Objective : This study is performed for the purpose of examining into the efficacy of the scolopendrid herbal acupucture which has been used among the Korean people for the Carpal tunnel syndrome. Methods : 40 carpal tunnel syndrome patients who visited Won-kwang University Hospital during the period from January 1998 to December 2004 were analysed for clinical manifestations. After we divided patients into two classes at random, we treated them with scolopendrid herbal acupucture or not. Treatment efficiency was monitored through VAS(Visual Analog Scale and clinical symptom. Conclusion : We brought to the conclusion that the scolopendrid herbal acupucture has possibility to be efficient to cure the carpal tunnel syndrome patients. So we suggest the possibility to use this new remedy for the carpal tunnel syndrome.

  13. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  14. Beals syndrome (congenital contractural arachnodactyly in children: Clinical symptoms, diagnosis, treatment, and prevention

    Directory of Open Access Journals (Sweden)

    A. N. Semyachkina

    2016-01-01

    Full Text Available The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of this disease and Marfan syndrome (FBN1 gene mutation, which is associated with the almost complete identity of two proteins: fibrillin 1 and fibrillin 2.The paper describes a clinical case of a child with Beals syndrome and the typical manifestations of the disease: asthenic constitution, arachnodactyly of the hands and feet, congenital contractures of the large and small joints, chest deformity, kyphoscoliosis, talpes, and crushed ears. The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. DNA diagnosis verified the Beals syndrome in the proband. Exon 28 in the FBN2 gene showed the previously undescribed missense mutation of c.3719G>A, resulting in the amino acid substitution of cysteine for tyrosine (p.Cys1240Tyr in the structure of the protein fibrillin 2. A de novo mutation occurred. There is evidence for its pathogenicity in the development of the clinical symptoms of the disease. The problems of effective medical genetic counseling in this family are discussed. 

  15. The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency

    Directory of Open Access Journals (Sweden)

    Szczawinska-Poplonyk Aleksandra

    2011-11-01

    Full Text Available Abstract The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities - the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases.

  16. How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms

    Directory of Open Access Journals (Sweden)

    Mikhail Mikhailovich Kostik

    2013-01-01

    Full Text Available Autoinflammatory syndromes (AISs are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatory cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern. The paper describes major AISs, such as familial Mediterranean fever; cryopyrin-associated periodic syndrome (familial cold urticaria, Muckle – Wells syndrome, CINCA/NOMID syndrome; tumor necrosis factor-α receptor-associated periodic syndrome; hyperimmunoglobulinemia D syndrome; periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome. An inheritance pattern and molecular defects are characterized for each disease. The principles of diagnosis and therapy are described. The role of interleukin-1 blockers in the therapy of AIS is defined. The most important symptoms that can be used to detect the major forms of AIS are identified. The Gaslini score, a special formula using the clinical symptoms to identify patients at high risk for AIS who need genetic typing and those at low risk for AIS, is described. A clinical diagnostic algorithm is presented, which can be used to detect patients with AIS and to determine indications to and the time of molecular genetic typing, and to choose priority genes.

  17. The pathogenesis of the clinical features of oral-facial-digital syndrome type I

    Directory of Open Access Journals (Sweden)

    Wael M. AlKattan

    2015-11-01

    Full Text Available Oral-facial-digital syndrome type I (OFDI is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the “primary cilium”. Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control.

  18. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.

    Science.gov (United States)

    Jian-Bing, Wu; Cheng-Rang, Li; Yi-Ping, Ma; Nan, Sheng; Hui, Li; Lin, Lin

    2016-02-01

    Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother.

  19. Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum

    OpenAIRE

    Pérez-Andreu, Joaquín; Ray, Victor Glenn; Arribas, José María; Sánchez, Sergio Juan

    2015-01-01

    Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

  20. Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.

    Science.gov (United States)

    Pérez-Andreu, Joaquín; Ray, Victor Glenn; Arribas, José María; Sánchez, Sergio Juan

    2015-06-01

    Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

  1. Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.

    Science.gov (United States)

    Chacon-Camacho, Oscar F; Lopez-Martinez, Monica S; Vázquez, Johanna; Nava-Castañeda, Angel; Martin-Biasotti, Fernando; Piña-Aguilar, Raul E; Iñiguez-Soto, Marisol; Acosta-García, Job; Zenteno, Juan C

    2013-06-01

    Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma. Copyright © 2013 Wiley Periodicals, Inc.

  2. Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations.

    Science.gov (United States)

    Romeo, Carmelo; Turiaco, Nunzio; Gitto, Eloisa; Borruto, Francesca Astra; Santoro, Giuseppe

    2013-06-01

    We present a novel case of the association of right-sided Bochdalek hernia, a diaphragmatic life-threatening malformation, and Kartagener syndrome, which is characterized by congenital bronchiectasis, chronic sinusitis, and situs inversus. The developmental and clinical findings are discussed. When an association of diaphragmatic hernia with situs viscerum inversus is encountered, physicians should be mindful of the possibility of Kartagener syndrome because this condition could significantly affect the morbidity of the patient.

  3. The clinical utility of ultrasonography for rotator cuff disease, shoulder impingement syndrome and subacromial bursitis.

    Science.gov (United States)

    Awerbuch, Mark S

    2008-01-07

    Periarticular shoulder disorders are common in clinical practice, and diagnosis is often difficult. Medicare statistics indicate that between 2001 and 2006 the use of diagnostic shoulder ultrasonography increased significantly. Rotator cuff disease, shoulder impingement syndrome and subacromial bursitis are among the most common diagnoses reported on shoulder ultrasonography. Shoulder ultrasonography is useful in the diagnosis of full thickness tears, but its utility for other rotator cuff disorders, shoulder impingement syndrome and subacromial bursitis is less well established.

  4. [An ischemic syndrome of the oculumotor nucleus: associated clinical and anatomical variations on a theme].

    Science.gov (United States)

    Bonnaud, I; Salama, J

    2003-09-01

    Nuclear syndrome of the oculomotor nerve was first described in 1981, it is characterized by the association of an ipsilateral third nerve palsy with a paresis of elevation in the contralateral eye. This syndrome can be caused by vascular or tumoral lesions in the upper midbrain. It is rarely due to ischemic unilateral mesencephalic lesions, because ischemic lesions of the midbrain are usually integrated in a diffuse involvement of the brainstem and the thalamo-sub-thalamic region. In case of nuclear syndrome of the third nerve due to isolated upper midbrain infarct in the paramedian territory, dependent on branches of the basilar artery, oculomotor symptoms are frequently isolated. On the contrary, in fascicular syndromes of the third nerve, resulting from stroke in more lateral territories upon branches of the posterior cerebral artery, many neurological symptoms are associated with the oculomotor signs. We describe 3 patients presenting with a characteristic nuclear syndrome of the third nerve, resulting from a unilateral paramedian ischemic stroke in the upper midbrain, confirmed by cerebral CT scan or MRI examination. Clinical presentation differed in each case, and marked contralateral hemiparesia, cerebellar syndrome and focal asterixis were associated in various ways with the stereotyped oculomotor disorders. In the 3 cases, the nuclear syndrome of the third nerve was associated with fascicular involvement of the nerve, in an unusual clinical picture. The theoretical distinction between nuclear and fascicular syndromes is supported by the anatomical description of the arterial segmentation in the upper midbrain, which remains debated since the first description. According to the variability of clinical presentations, it seems that the arterial territories may be more variable than initially described. Therefore, ischemic lesions of the upper midbrain may involve some vascular borderzones with a high inter-individual variability. Upper midbrain strokes may

  5. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

    Science.gov (United States)

    Basel-Vanagaite, Lina; Yilmaz, Rüstem; Tang, Sha; Reuter, Miriam S; Rahner, Nils; Grange, Dorothy K; Mortenson, Megan; Koty, Patrick; Feenstra, Heather; Farwell Gonzalez, Kelly D; Sticht, Heinrich; Boddaert, Nathalie; Désir, Julie; Anyane-Yeboa, Kwame; Zweier, Christiane; Reis, André; Kubisch, Christian; Jewett, Tamison; Zeng, Wenqi; Borck, Guntram

    2014-07-01

    Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels. To date, six patients with either missense mutations affecting the UBE3B HECT domain or truncating mutations have been described. Here, we report on the identification of homozygous or compound heterozygous UBE3B mutations in six additional patients from five unrelated families using either targeted UBE3B sequencing in individuals with suggestive facial dysmorphic features, or exome sequencing. Our results expand the clinical and mutational spectrum of the UBE3B-related disorder in several ways. First, we have identified UBE3B mutations in individuals who previously received distinct clinical diagnoses: two sibs with Toriello-Carey syndrome as well as the patient reported to have a "new" syndrome by Buntinx and Majewski in 1990. Second, we describe the adult phenotype and clinical variability of the syndrome. Third, we report on the first instance of homozygous missense alterations outside the HECT domain of UBE3B, observed in a patient with mildly dysmorphic facial features. We conclude that UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability. We review the UBE3B-associated phenotypes, including forms that can mimick Toriello-Carey syndrome, and suggest the single designation "Kaufman oculocerebrofacial syndrome".

  6. Clinical case of a Goldenhar syndrome diagnostics in a newborn boy

    Directory of Open Access Journals (Sweden)

    Slesarenko N.A.

    2016-09-01

    Full Text Available Relative importance of the current issue is based on rare occurrence of this dermatosis, its genetic predisposition and occurrence in early childhood. The Goldenhar syndrome diagnosing is a difficult task and causes difficulty in selecting treatment, due to large number of clinical syndromes presenting with facial deformities and the inability to quickly identify concomitant signs of damage to other organs and systems.

  7. Serologic features of primary Sjögren’s syndrome: clinical and prognostic correlation

    Science.gov (United States)

    García-Carrasco, Mario; Mendoza-Pinto, Claudia; Jiménez-Hernández, César; Jiménez-Hernández, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos

    2013-01-01

    Sjögren’s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin’s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers. PMID:23525186

  8. ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

    Science.gov (United States)

    Syngal, Sapna; Brand, Randall E.; Church, James M.; Giardiello, Francis M.; Hampel, Heather L.; Burt, Randall W.

    2015-01-01

    This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. PMID:25645574

  9. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S

    2012-07-01

    Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  10. Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations.

    Science.gov (United States)

    Grossfeld, Paul

    2017-03-01

    Jacobsen syndrome is a rare chromosomal disorder caused by distal deletions in the long arm of chromosome 11. All patients with Jacobsen syndrome have Paris-Trousseau syndrome, a bleeding disorder that causes neonatal thrombocytopenia, and persistent platelet dysfunction. Despite that, to date there are no reported cases of hemorrhagic strokes occurring in patients with Jacobsen syndrome. In the last 6 years at least six cases of brain hemorrhages in patients with Jacobsen syndrome have occurred. In this report, we perform a retrospective review of these six cases. The analysis indicates that the etiology of brain hemorrhages in Jacobsen syndrome is likely multifactorial. A likely cause (or causes) was identified in three of the cases, and additional potential risk factors were identified. Based on these findings, clinical recommendations are provided that should aid in the identification of those individuals with Jacobsen syndrome that are at increased risk for brain hemorrhages, and will hopefully decrease the occurrence of this devastating complication in people with Jacobsen syndrome.© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  11. Clinical variables determining the success of adenotonsillectomy in children with Down syndrome.

    Science.gov (United States)

    da Rocha, Maíra; Ferraz, Renata Caroline Mendonça; Guo Chen, Vitor; Antonio Moreira, Gustavo; Raimundo Fujita, Reginaldo

    2017-11-01

    To evaluate the evolution of polysomnographic parameters of children with Down syndrome and obstructive sleep apnea syndrome submitted to adenotonsillectomy and the interaction of comorbidities on therapeutic outcome. Ninety patients with Down syndrome and habitual snoring were identified between 2005 and 2015 in a Pediatric Otorhinolaryngology Clinic. Parent's complaints were evaluated by the test of equality of two proportions. Wilcoxon test was used to examine pre- and post-operative polysomnographic differences. Mann-Whitney test evaluated the influence of comorbidities. A p syndrome in 29.6% of children with Down syndrome. Nineteen patients (70.4%) remained with obstructive sleep apnea syndrome and 44.4% showed a reduction of at least 50% of obstructive apnea-hypopnea index. Central apnea index post-adenotonsillectomy was worse in patients with heart disease (p = 0.022). Sleep efficiency (p = 0.031), N1 sleep stage (p = 0.001), apnea-hypopnea index (p = 0.023), and central apnea index (p = 0.008) were worse after surgery in patients with hypothyroidism. Patients with severe OSAS showed significant improvement in polysomnographic parameters after surgery. Although adenotonsillectomy improved symptoms and objective sleep data in children with Down syndrome, it was not able to resolve obstructive sleep apnea syndrome in most patients. Congenital heart diseases and hypothyroidism may affect the outcome. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    Science.gov (United States)

    Spitzer, A Robert

    2014-09-01

    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  13. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

    Science.gov (United States)

    Stoffel, Elena M; Mangu, Pamela B; Gruber, Stephen B; Hamilton, Stanley R; Kalady, Matthew F; Lau, Michelle Wan Yee; Lu, Karen H; Roach, Nancy; Limburg, Paul J

    2015-01-10

    To provide recommendations on prevention, screening, genetics, treatment, and management for people at risk for hereditary colorectal cancer (CRC) syndromes. The American Society of Clinical Oncology (ASCO) has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations. The Familial Risk-Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline published in 2013 on behalf of the European Society for Medical Oncology (ESMO) Guidelines Working Group in Annals of Oncology was reviewed for developmental rigor by methodologists, with content and recommendations reviewed by an ASCO endorsement panel. The ASCO endorsement panel determined that the recommendations of the ESMO guidelines are clear, thorough, and based on the most relevant scientific evidence. The ASCO panel endorsed the ESMO guidelines and added a few qualifying statements. Approximately 5% to 6% of patient cases of CRC are associated with germline mutations that confer an inherited predisposition for cancer. The possibility of a hereditary cancer syndrome should be assessed for every patient at the time of CRC diagnosis. A diagnosis of Lynch syndrome, familial adenomatous polyposis, or another genetic syndrome can influence clinical management for patients with CRC and their family members. Screening for hereditary cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria. © 2014 by American Society of Clinical Oncology.

  14. COPD-OSA Overlap Syndrome: Evolving Evidence Regarding Epidemiology, Clinical Consequences, and Management.

    Science.gov (United States)

    McNicholas, Walter T

    2017-12-01

    COPD and OSA are both highly prevalent, which implies that both disorders occurring together (overlap syndrome) is likely to be common based on chance association alone. However, different clinical COPD phenotypes influence the likelihood of coexisting OSA in that the increased lung volumes and low BMI associated with the predominant emphysema phenotype protects against OSA, whereas the higher likelihood of peripheral edema and increased BMI associated with the predominant chronic bronchitis phenotype promotes OSA. Both COPD and OSA are associated with similar physiological and molecular consequences, such as hypoxia and systemic inflammation, that contribute to cardiovascular and other comorbidities, and pulmonary hypertension is highly prevalent in patients with the overlap syndrome. However, there have been few published reports that have evaluated systemic inflammation and other cardiovascular comorbidities in patients with overlap syndrome. The diagnosis of OSA in patients with COPD requires awareness of relevant clinical features, and screening questionnaires may help identify suitable patients for further overnight study. The recognition of coexisting OSA in patients with COPD has important clinical relevance, as the management of patients with overlap syndrome is different from the management of COPD alone, and the survival of patients with overlap syndrome that is not treated with nocturnal positive airway pressure is significantly inferior to that of patients with overlap syndrome that is appropriately treated. Copyright © 2017 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  15. Temporal Course of the Tourette Syndrome Clinical Triad

    OpenAIRE

    Shprecher, David R.; Rubenstein, Lindsay A.; Gannon, Keenan; Frank, Samuel A.; Kurlan, Roger

    2014-01-01

    Background: Tourette syndrome (TS) is a disorder characterized by childhood onset of motor and phonic tics, often with improvement of tic symptoms by young adult years. The temporal course of tics and commonly comorbid behavioral symptoms is still not well characterized. Methods: In order to clarify the time course of tics and comorbid attention deficit hyperactivity disorder (ADHD) or obsessive compulsive disorder (OCD) in TS, we administered a brief survey regarding the course of symptoms a...

  16. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Berrocal, T. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Simon, M.J. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Al-Assir, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Prieto, C. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pastor, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pablo, L. de [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Lama, R. [Servicio de Gastroenterologia, Hospital Infantil `La Paz`, Madrid (Spain)

    1995-07-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  17. THE CLINICAL CASE OF STARK–KAESER TYPE SCAPULOPERONEAL SYNDROME

    Directory of Open Access Journals (Sweden)

    T. A. Valikova

    2015-01-01

    Full Text Available We present a rare case of Stark–Kaeser type scapuloperoneal syndrome type with mild weakness and hypotrophy in proximal limb, with rough paresis of feet, walking dysfunction and slowly-progressive course. The article briefly describes current views on the etiology and pathogenesis of this disease. The case is of interest to physicians of various specialties for the differential diagnosis of inherited neuromuscular disorders.

  18. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

    OpenAIRE

    Alberto Albanese; Francesca Del Sorbo

    2016-01-01

    Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known form...

  19. Rett Syndrome and the Ongoing Legacy of Close Clinical Observation.

    Science.gov (United States)

    Zoghbi, Huda Y

    2016-10-06

    This year marks the 50 th anniversary of the publication of Andreas Rett's report on 22 girls who developed a peculiar and devastating neurological disorder that later came to bear his name. On this occasion, we reflect on the progress that has occurred in understanding Rett Syndrome, development of potential treatments, and the ramifications that Rett research has had on the fields of neurobiology and genetics. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Clinical manifestations of Ellis-van Creveld syndrome

    OpenAIRE

    Vinay C; Reddy R; Uloopi K; Sekhar R

    2009-01-01

    Ellis-van Creveld syndrome (EVC) is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects. It is a rare disease complex and very few cases have been reported in dental literature. This condition is inherited as an autosomal recessive trait with variable expression. The present case report describes EVC in a 7-year-old girl, with all the tetrad of cardinal features. We found a rare dental aberration in form; appearance of s...

  1. Electrophysiological mechanisms of Brugada syndrome: insights from pre-clinical and clinical studies

    Directory of Open Access Journals (Sweden)

    Gary Tse

    2016-10-01

    Full Text Available Brugada syndrome (BrS, is a primary electrical disorder predisposing affected individuals to sudden cardiac death via the development of ventricular tachycardia and fibrillation (VT/VF. Originally, BrS was linked to mutations in the SCN5A, which encodes for the cardiac Na+ channel. To date, variants in 19 genes have been implicated in this condition, with 11, 5, 3 and 1 genes affecting the Na+, K+, Ca2+ and funny currents, respectively. Diagnosis of BrS is based on ECG criteria of coved- or saddle-shaped ST segment elevation and/or T-wave inversion with or without drug challenge. Three hypotheses based on abnormal depolarization, abnormal repolarization and current-load-mismatch have been put forward to explain the electrophysiological mechanisms responsible for BrS. Evidence from computational modelling, pre-clinical and clinical studies illustrates that molecular abnormalities found in BrS lead to alterations in excitation wavelength (λ, which ultimately elevates arrhythmic risk. A major challenge for clinicians in managing this condition is the difficulty in predicting the subset of patients who will suffer from life-threatening VT/VF. Several repolarization risk markers have been used thus far, but these neglect the contributions of conduction abnormalities in the form of slowing and dispersion. Indices incorporating both repolarization and conduction and based on the concept of λ have recently been proposed. These may have better predictive values than the existing markers. Current treatment options are pharmacotherapy to reduce the occurrence of VT/VF or to abort these episodes, and interventions include implantable cardioverter-defibrillator insertion or radiofrequency ablation of abnormal arrhythmic substrate.

  2. Clinical and molecular characterization of patients with Jacobsen syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Penny, L.A.; Aquila, M.; Iones, O.W. [Univ. of California San Diego, La Jolla, CA (United States)] [and others

    1994-09-01

    Jacobsen (11q-) syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mental retardation, trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia, among others. We studied 14 Jacobsen syndrome patients with de novo terminal deletions of 11q. The deletions were characterized in a loss of heterozygosity analysis using polymorphic dinucleotide repeats. There was no preference in the parental origin of the deleted chromosome. Seven patients with the largest deletions, extending from 11q23.3-qter, appear to share the same breakpoint, between D11S924 and D11S1341. Terminal deletions extending proximal to this common breakpoint may be lethal. The remaining seven patients had various smaller deletions of 11q23.3, 11q24 or 11q25. Three patients with small terminal deletions had several major features of Jacobsen syndrome, including facial dysmorphism, cardiac defects and thrombocytopenia, suggesting that the genes responsible for these features lie near the end of the chromosome. These three patients did not have trigonocephaly, suggesting that, if hemizygosity for a single gene is responsible, it may lie proximal to D11S934.

  3. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

    Science.gov (United States)

    Albanese, Alberto; Sorbo, Francesca Del

    2016-01-01

    Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

  4. Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.

    Science.gov (United States)

    Hasumi, Hisashi; Baba, Masaya; Hasumi, Yukiko; Furuya, Mitsuko; Yao, Masahiro

    2016-03-01

    Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associated renal tumors, hybrid oncocytic/chromophobe tumors and chromophobe renal cell carcinoma are typically less aggressive, and a therapeutic principle for these tumors is a surgical removal with nephron-sparing. The timing of surgery is the most critical element for postoperative renal function, which is one of the important prognostic factors for Birt-Hogg-Dubé syndrome patients. The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer. Recent studies using murine models for FLCN, a protein encoded by the FLCN gene, and its two binding partners, folliculin-interacting protein 1 (FNIP1) and folliculin-interacting protein 2 (FNIP2), have uncovered important roles for FLCN, FNIP1 and FNIP2 in cell metabolism, which include AMP-activated protein kinase-mediated energy sensing, Ppargc1a-driven mitochondrial oxidative phosphorylation and mTORC1-dependent cell proliferation. Birt-Hogg-Dubé syndrome is a hereditary hamartoma syndrome, which is triggered by metabolic alterations under a functional loss of FLCN/FNIP1/FNIP2 complex, a critical regulator of kidney cell proliferation rate; a mechanistic insight into the FLCN/FNIP1/FNIP2 pathway could provide us a basis for developing new therapeutics for kidney cancer. © 2015 The Japanese Urological Association.

  5. Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Gustavo A.Rosa Maciel

    2014-03-01

    Full Text Available OBJECTIVES: We aimed to investigate whether glucocorticoid receptor gene polymorphisms are associated with clinical and metabolic profiles in patients with polycystic ovary syndrome. Polycystic ovary syndrome is a complex endocrine disease that affects 5-8% of women and may be associated with metabolic syndrome, which is a risk factor for cardiovascular disease. Cortisol action and dysregulation account for metabolic syndrome development in the general population. As glucocorticoid receptor gene (NR3C1 polymorphisms regulate cortisol sensitivity, we hypothesized that variants of this gene may be involved in the adverse metabolic profiles of patients with polycystic ovary syndrome. METHOD: Clinical, metabolic and hormonal profiles were evaluated in 97 patients with polycystic ovary syndrome who were diagnosed according to the Rotterdam criteria. The alleles of the glucocorticoid gene were genotyped. Association analyses were performed using the appropriate statistical tests. RESULTS: Obesity and metabolic syndrome were observed in 42.3% and 26.8% of patients, respectively. Body mass index was positively correlated with blood pressure, triglyceride, LDL-c, total cholesterol, glucose and insulin levels as well as HOMA-IR values and inversely correlated with HDL-c and SHBG levels. The BclI and A3669G variants were found in 24.7% and 13.4% of alleles, respectively. BclI carriers presented a lower frequency of insulin resistance compared with wild-type subjects. CONCLUSION: The BclI variant is associated with a lower frequency of insulin resistance in women with polycystic ovary syndrome. Glucocorticoid gene polymorphism screening during treatment of the syndrome may be useful for identifying subgroups of at-risk patients who would benefit the most from personalized treatment.

  6. Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome.

    Science.gov (United States)

    Freilinger, Michael; Böhm, Michael; Lanator, Ines; Vergesslich-Rothschild, Klara; Huber, Wolf-Dietrich; Anderson, Alison; Wong, Kingsley; Baikie, Gordon; Ravikumara, Madhur; Downs, Jenny; Leonard, Helen

    2014-08-01

    This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease. The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. The incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic. Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT. © 2014 Mac Keith Press.

  7. Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

    DEFF Research Database (Denmark)

    Remvig, L; Duhn, Ph; Ullman, S

    2010-01-01

    The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility has high reliability but there is only sparse information on the reliability of skin tests, and no information on the level of normal skin extensibility...

  8. Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital.

    Science.gov (United States)

    Shaaya, Elias A; Grocott, Olivia R; Laing, Olivia; Thibert, Ronald L

    2016-07-01

    Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Many of the subjects in this study were on valproic acid therapy prior to their initial evaluation and exhibited increased tremor, decreased balance, and/or regression of motor skills, which resolved after tapering off of this medication. Newer antiepileptic drugs such as levetiracetam, lamotrigine, and clobazam, and to a lesser extent topiramate, appeared to be as effective - if not more so - as valproic acid and clonazepam while offering more favorable side effect profiles. The low glycemic index treatment also provided effective seizure control with minimal side effects. The majority of subjects remained on combination therapy with levetiracetam, lamotrigine, and clobazam being the most commonly used medications, indicating a changing trend when compared with prior studies. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guidelines

    Science.gov (United States)

    Stoffel, Elena M.; Mangu, Pamela B.; Gruber, Stephen B.; Hamilton, Stanley R.; Kalady, Matthew F.; Lau, Michelle Wan Yee; Lu, Karen H.; Roach, Nancy; Limburg, Paul J.

    2015-01-01

    Purpose To provide recommendations on prevention, screening, genetics, treatment, and management for people at risk for hereditary colorectal cancer (CRC) syndromes. The American Society of Clinical Oncology (ASCO) has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations. Methods The Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline published in 2013 on behalf of the European Society for Medical Oncology (ESMO) Guidelines Working Group in Annals of Oncology was reviewed for developmental rigor by methodologists, with content and recommendations reviewed by an ASCO endorsement panel. Results The ASCO endorsement panel determined that the recommendations of the ESMO guidelines are clear, thorough, and based on the most relevant scientific evidence. The ASCO panel endorsed the ESMO guidelines and added a few qualifying statements. Recommendations Approximately 5% to 6% of patient cases of CRC are associated with germline mutations that confer an inherited predisposition for cancer. The possibility of a hereditary cancer syndrome should be assessed for every patient at the time of CRC diagnosis. A diagnosis of Lynch syndrome, familial adenomatous polyposis, or another genetic syndrome can influence clinical management for patients with CRC and their family members. Screening for hereditary cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria. PMID:25452455

  10. Radiology of the infantile hand as a mirror of clinical syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Fliegel, C.P.

    1982-05-01

    Significant radiographic findings of the pediatric hand are described as far as they are useful for the diagnosis of a suspected clinical syndrome. Normal variants that can simulate pathological findings are demonstrated. Deviations of skeletal age from chronological age and their clinical significance are discussed. Diagnostically useful malformations (hexadactyly, syndactyly, brachyphalangy, cone shaped epiphyses and anomalies of the thumb) are presented in the context of typical cases of selected syndromes. The importance of establishing a correct diagnosis in these cases is stressed with regard to individual prognosis of the patient and genetic counselling of the family.

  11. Leg orientation as a clinical sign for pusher syndrome

    Directory of Open Access Journals (Sweden)

    Johannsen Leif

    2006-08-01

    Full Text Available Abstract Background Effective control of (upright body posture requires a proper representation of body orientation. Stroke patients with pusher syndrome were shown to suffer from severely disturbed perception of own body orientation. They experience their body as oriented 'upright' when actually tilted by nearly 20° to the ipsilesional side. Thus, it can be expected that postural control mechanisms are impaired accordingly in these patients. Our aim was to investigate pusher patients' spontaneous postural responses of the non-paretic leg and of the head during passive body tilt. Methods A sideways tilting motion was applied to the trunk of the subject in the roll plane. Stroke patients with pusher syndrome were compared to stroke patients not showing pushing behaviour, patients with acute unilateral vestibular loss, and non brain damaged subjects. Results Compared to all groups without pushing behaviour, the non-paretic leg of the pusher patients showed a constant ipsiversive tilt across the whole tilt range for an amount which was observed in the non-pusher subjects when they were tilted for about 15° into the ipsiversive direction. Conclusion The observation that patients with acute unilateral vestibular loss showed no alterations of leg posture indicates that disturbed vestibular afferences alone are not responsible for the disordered leg responses seen in pusher patients. Our results may suggest that in pusher patients a representation of body orientation is disturbed that drives both conscious perception of body orientation and spontaneous postural adjustment of the non-paretic leg in the roll plane. The investigation of the pusher patients' leg-to-trunk orientation thus could serve as an additional bedside tool to detect pusher syndrome in acute stroke patients.

  12. 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

  13. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.

    Science.gov (United States)

    Kaneko, Hideo; Kondo, Naomi

    2004-05-01

    Bloom syndrome is a rare autosomal recessive genetic disorder characterized by growth deficiency, unusual facies, sun-sensitive telangiectatic erythema, immunodeficiency and predisposition to cancer. The causative gene for Bloom syndrome is BLM, which encodes the BLM RecQ helicase homolog protein. The first part of this review describes a long-term follow-up study of two Bloom syndrome siblings. Subsequently, the focus is placed on the functional domains of BLM. Laboratory diagnosis of Bloom syndrome by detecting mutations in BLM is laborious and impractical, unless there are common mutations in a population. Immunoblot and immunohistochemical analyses for the detection of the BLM protein using a polyclonal BLM antibody, which are useful approaches for clinical diagnosis of Bloom syndrome, are also described. In addition, a useful adjunct for the diagnosis of Bloom syndrome in terms of the BLM function is investigated, since disease cells must have the defective BLM helicase function. This review also discusses the nuclear localization signal of BLM, the proteins that interact with BLM and tumors originating from Bloom syndrome.

  14. Hemizygosity at the elastin locus and clinical features of Williams syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Morimoto, Y; Kuwano, A. [Ehime Univ. School of Medicine (Japan); Kuwajima, K. [Ibaraki Perfectural Handicap Children`s Hopsital (Japan)] [and others

    1994-09-01

    Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient with distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.

  15. Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience.

    Science.gov (United States)

    Erten, Mujde Z; Fernandez, Luca P; Ng, Hank K; McKinnon, Wendy C; Heald, Brandie; Koliba, Christopher J; Greenblatt, Marc S

    2016-10-01

    Strategies to screen colorectal cancers (CRCs) for Lynch syndrome are evolving rapidly; the optimal strategy remains uncertain. We compared targeted versus universal screening of CRCs for Lynch syndrome. In 2010-2011, we employed targeted screening (age syndrome and estimated the 5-year costs of preventing CRC by colonoscopy screening, using a system dynamics model. Using targeted screening, 51/175 (29 %) cancers fit criteria and were tested by immunohistochemistry; 15/51 (29 %, or 8.6 % of all CRCs) showed suspicious loss of ≥1 mismatch repair protein. Germline mismatch repair gene mutations were found in 4/4 cases sequenced (11 suspected cases did not have germline testing). Using universal screening, 17/292 (5.8 %) screened cancers had abnormal immunohistochemistry suspicious for Lynch syndrome. Germline mismatch repair mutations were found in only 3/10 cases sequenced (7 suspected cases did not have germline testing). The mean cost to identify Lynch syndrome probands was ~$23,333/case for targeted screening and ~$175,916/case for universal screening at our institution. Estimated costs to identify and screen probands and relatives were: targeted, $9798/case and universal, $38,452/case. In real-world Lynch syndrome management, incomplete clinical follow-up was the major barrier to do genetic testing. Targeted screening costs 2- to 7.5-fold less than universal and rarely misses Lynch syndrome cases. Future changes in testing costs will likely change the optimal algorithm.

  16. Epidemiological and clinical aspects of the Guillain-Barre Syndrome

    OpenAIRE

    van Koningsveld, Rinske

    2001-01-01

    textabstractThe Guillain-Barre syndrome (GBS) is an acute immune-mediated disorder of the peripheral nerves. The essential features are a rapidly progressive, more or less symmetrical weakness of the limbs and decreased or absent tendon reflexes. The weakness reaches its nadir (maximum severity) by definition within four weeks, but it is usually seen within two weeks. In 20-30% of the patients, weakness is so severe that artificial ventilation is needed. People of all age, gender or race can ...

  17. Joubert syndrome: large clinical variability and a unique neuroimaging aspect

    Energy Technology Data Exchange (ETDEWEB)

    Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Neurology; Maia Junior, Otacilio de Oliveira [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Ophthalmology

    2010-04-15

    Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

  18. Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Tullu M

    1998-10-01

    Full Text Available Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.

  19. Clinical manifestations of Ellis-van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Vinay C

    2009-01-01

    Full Text Available Ellis-van Creveld syndrome (EVC is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects. It is a rare disease complex and very few cases have been reported in dental literature. This condition is inherited as an autosomal recessive trait with variable expression. The present case report describes EVC in a 7-year-old girl, with all the tetrad of cardinal features. We found a rare dental aberration in form; appearance of single conical roots in primary molars. The management of children with EVC is multidisciplinary, with consideration for the high incidence of cardiac defects in these patients.

  20. Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness

    Directory of Open Access Journals (Sweden)

    Jad Al Danaf

    2015-01-01

    Full Text Available A 60-year-old man with a history of bipolar disorder on risperidone, bupropion, and escitalopram was admitted for community acquired streptococcal pneumonia. Four days later, he developed persistent hyperthermia, dysautonomia, rigidity, hyporeflexia, and marked elevation of serum creatine phosphokinase. He was diagnosed with neuroleptic malignant syndrome (NMS and improved with dantrolene, bromocriptine, and supportive therapy. This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity.

  1. Clinical manifestations of Ellis-van Creveld syndrome.

    Science.gov (United States)

    Vinay, C; Reddy, R Sudhakara; Uloopi, K S; Sekhar, R Chandra

    2009-01-01

    Ellis-van Creveld syndrome (EVC) is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects. It is a rare disease complex and very few cases have been reported in dental literature. This condition is inherited as an autosomal recessive trait with variable expression. The present case report describes EVC in a 7-year-old girl, with all the tetrad of cardinal features. We found a rare dental aberration in form; appearance of single conical roots in primary molars. The management of children with EVC is multidisciplinary, with consideration for the high incidence of cardiac defects in these patients.

  2. Molecular and clinical rationale for therapeutic targeting of interleukin-5 and its receptor.

    Science.gov (United States)

    Molfino, N A; Gossage, D; Kolbeck, R; Parker, J M; Geba, G P

    2012-05-01

    Interleukin-5 is a Th2 homodimeric cytokine involved in the differentiation, maturation, migration, development, survival, trafficking and effector function of blood and local tissue eosinophils, in addition to basophils and mast cells. The IL-5 receptor (IL-5R) consists of an IL-5-specific α subunit that interacts in conformationally dynamic ways with the receptor's βc subunit, an aggregate of domains it shares with binding sites of IL-3 and granulocyte-macrophage colony-stimulating factor. IL-5 and IL-5R drive allergic and inflammatory immune responses characterizing numerous diseases, such as asthma, atopic dermatitis, chronic obstructive pulmonary disease, eosinophilic gastrointestinal diseases, hyper-eosinophilic syndrome, Churg-Strauss syndrome and eosinophilic nasal polyposis. Although corticosteroid therapy is the primary treatment for these diseases, a substantial number of patients exhibit incomplete responses and suffer side-effects. Two monoclonal antibodies have been designed to neutralize IL-5 (mepolizumab and reslizumab). Both antibodies have demonstrated the ability to reduce blood and tissue eosinophil counts. One additional monoclonal antibody, benralizumab (MEDI-563), has been developed to target IL-5R and attenuate eosinophilia through antibody-dependent cellular cytotoxicity. All three monoclonal antibodies are being clinically evaluated. Antisense oligonucleotide technology targeting the common βc IL-5R subunit is also being used therapeutically to inhibit IL-5-mediated effects (TPI ASM8). Small interfering RNA technology has also been used therapeutically to inhibit the expression of IL-5 in animal models. This review summarizes the structural interactions between IL-5 and IL-5R and the functional consequences of such interactions, and describes the pre-clinical and clinical evidence supporting IL-5R as a therapeutic target. © 2011 MedImmune, LLC.

  3. BASED TO CLINICAL CASE. VON HIPLEA-LINDAU SYNDROME

    Directory of Open Access Journals (Sweden)

    Brzeziński Piotr

    2011-01-01

    Full Text Available von Hippel-Lindau syndrome (VHL is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis. The tumors of the central nervous system (CNS are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs and/or tumors (benign or cancerous may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Based on the case of 30-year old patient with characteristics of von Hippel-Lindau syndrome as phakomatosis.

  4. Chronic opioid use in fibromyalgia syndrome: a clinical review.

    Science.gov (United States)

    Painter, Jacob T; Crofford, Leslie J

    2013-03-01

    Chronic opioid therapy in the treatment of chronic nonmalignant pain has increased drastically over the past decade. This is a worrisome trend in general, but specifically, given pathophysiologic characteristics seen in fibromyalgia (FM) syndrome patients, the use of this class of medication deserves special scrutiny. We first describe the current understanding of the etiology and pathophysiology of FM, including the role of genetic and environmental factors in the development of this syndrome. We then discuss the biologic effects of opioid use. Next, we review the pharmaceutical treatment options for FM, including 3 Food and Drug Administration-approved medications, and the evolution of treatment guidelines since 2004. We then highlight the various consequences associated with the mechanism of action of opioids and the specific concerns for FM patients.Finally, summarizing the existing literature, we make the case that chronic opioid use is inappropriate in the treatment of FM because of the interaction of unique pathophysiologic characteristics of the patients and effects associated with chronic opioid use.

  5. [Clinical examination of renal function in Cockayne syndrome].

    Science.gov (United States)

    Motojima, Toshino; Sugita, Katsuo; Omata, Taku; Fujii, Katsunori

    2014-07-01

    Cockayne syndrome (CS) is a rare hereditary disease, characterized by profound postnatal brain and somatic growth failure and by the degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. This syndrome is often associated with renal dysfunction, which usually correlates with the patient's prognosis. In the present study, we evaluated the longitudinal changes in serum creatinine and serum cystatin C levels in three patients with CS to examine whether these markers can help detect renal disorders at the earlier stages. The serum creatinine level in these CS patients gradually exceeded the reference level from 5 to 7 years of age, after correcting for body length. The cystatin C level of the CS patients increased to above the reference level while their estimated glomerular filtration rate remained within stage 2 or 3. Thus, we conclude that the serum creatinine level, following correction by body length, is very useful for the evaluation of renal function in CS. Moreover, the appropriate estimation of renal function facilities the administration of suitable medication, thus avoiding some harmful effects on the kidney.

  6. Alice in Wonderland Syndrome: A Clinical and Pathophysiological Review

    Directory of Open Access Journals (Sweden)

    Giulio Mastria

    2016-01-01

    Full Text Available Alice in Wonderland Syndrome (AIWS is a perceptual disorder, principally involving visual and somesthetic integration, firstly reported by Todd, on the literary suggestion of the strange experiences described by Lewis Carroll in Alice in Wonderland books. Symptoms may comprise among others aschematia and dysmetropsia. This syndrome has many different etiologies; however EBV infection is the most common cause in children, while migraine affects more commonly adults. Many data support a strict relationship between migraine and AIWS, which could be considered in many patients as an aura or a migraine equivalent, particularly in children. Nevertheless, AIWS seems to have anatomical correlates. According to neuroimaging, temporoparietal-occipital carrefour (TPO-C is a key region for developing many of AIWS symptoms. The final part of this review aims to find the relationship between AIWS symptoms, presenting a pathophysiological model. In brief, AIWS symptoms depend on an alteration of TPO-C where visual-spatial and somatosensory information are integrated. Alterations in these brain regions may cause the cooccurrence of dysmetropsia and disorders of body schema. In our opinion, the association of other symptoms reported in literature could vary depending on different etiologies and the lack of clear diagnostic criteria.

  7. Clinical management of behavioral characteristics of Prader–Willi syndrome

    Directory of Open Access Journals (Sweden)

    Alan Y Ho

    2010-04-01

    Full Text Available Alan Y Ho, Anastasia DimitropoulosDepartment of Psychology, Case Western Reserve University, Cleveland, OH, USAAbstract: Prader–Willi syndrome (PWS is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11–q13 that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation and exhibit a higher overall behavior disturbance compared to individuals with similar intellectual disability. Due to its multisystem disorder, family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. This article reviews current research on behavior and cognition in PWS and discusses management guidelines for this disorder.Keywords: Prader–Willi syndrome; neurodevelopment, hyperphagia, disability

  8. Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features

    Directory of Open Access Journals (Sweden)

    Jiehyun Jeon

    2014-01-01

    Full Text Available Trichorhinophalangeal syndrome type I (TRPS I is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and skeletal abnormalities. TRPS1 gene was first identified in 2000 and mapped on chromosome 8q23.3. A 39-year-old female patient with short stature (149 cm visited for fine sparse and slow-growing hair with receded medio-occipital hairline of roughly triangular shape since infancy. A typical pear-shaped nose and elongated philtrum were noticeable. In addition, she reported deviation of middle phalanges, bilateral coxa varus in both hips and brachydactyly on bilateral fourth digits. Mutation analysis identified a transition of cytosine to thymine at position 1630 (exon 4, which results in amino acid change R544X and a premature stop of translation. There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling.

  9. A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome.

    Science.gov (United States)

    Quaio, Caio Robledo D'Angioli Costa; Almeida, Tatiana Ferreira de; Albano, Lilian Maria José; Gomy, Israel; Bertola, Debora Romeo; Varela, Monica Castro; Koiffmann, Celia P; Kim, Chong Ae

    2012-08-01

    Prader-Willi Syndrome is a common etiology of syndromic obesity that is typically caused by either a paternal microdeletion of a region in chromosome 15 (microdeletions) or a maternal uniparental disomy of this chromosome. The purpose of this study was to describe the most significant clinical features of 35 Brazilian patients with molecularly confirmed Prader-Willi syndrome and to determine the effects of growth hormone treatment on clinical outcomes. A retrospective study was performed based on the medical records of a cohort of 35 patients diagnosed with Prader-Willi syndrome. The main clinical characteristics were compared between the group of patients presenting with microdeletions and the group presenting with maternal uniparental disomy of chromosome 15. Curves for height/length, weight and body mass index were constructed and compared between Prader-Willi syndrome patients treated with and without growth hormone to determine how growth hormone treatment affected body composition. The curves for these patient groups were also compared with curves for the normal population. No significant differences were identified between patients with microdeletions and patients with maternal uniparental disomy for any of the clinical parameters measured. Growth hormone treatment considerably improved the control of weight gain and body mass index for female patients but had no effect on either parameter in male patients. Growth hormone treatment did not affect height/length in either gender. The prevalence rates of several clinical features in this study are in agreement with the rates reported in the literature. Additionally, we found modest benefits of growth hormone treatment but failed to demonstrate differences between patients with microdeletions and those with maternal uniparental disomy. The control of weight gain in patients with Prader-Willi syndrome is complex and does not depend exclusively on growth hormone treatment.

  10. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.

    Science.gov (United States)

    Ajayi, Oluwaseun Jessica; Smith, Ebony Jeannae; Viangteeravat, Teeradache; Huang, Eunice Y; Nagisetty, Naga Satya V Rao; Urraca, Nora; Lusk, Laina; Finucane, Brenda; Arkilo, Dimitrios; Young, Jennifer; Jeste, Shafali; Thibert, Ronald; Reiter, Lawrence T

    2017-10-18

    Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions. The goal of this project is to establish a national deidentified database with clinical and survey information on individuals diagnosed with Dup15q syndrome. The development of a multiclinic site repository for clinical and survey data on individuals with Dup15q syndrome was initiated and supported by the Dup15q Alliance. Using collaborative workflows, communication protocols, and stakeholder engagement tools, a comprehensive database of patient-centered information was built. We successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository also resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders. By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research. A substantial portion of the data collected from the questionnaires was facilitated through direct engagement of participants and their families. This allowed for a more complete set of information to be collected with a minimal turnaround time. We developed a repository that can efficiently be mined for shared clinical phenotypes observed at multiple clinic sites and used as a springboard for future clinical and basic research studies.

  11. Evaluation and Management of Tolosa-Hunt Syndrome in Children: A Clinical Update.

    Science.gov (United States)

    Pérez, Carlos A; Evangelista, Monaliza

    2016-09-01

    Tolosa-Hunt syndrome is a painful ophthalmoplegia caused by an inflammatory process of unknown etiology in the region of the cavernous sinus, orbital apex, or superior orbital fissure. This disease is rare in the pediatric population. The objective of this study was to provide a clinical framework for the evaluation and treatment of children with this disorder. A systematic approach to the diagnosis of painful ophthalmoplegia in children is proposed. We present a 15-year-old girl whose clinical presentation and neuroradiological findings support a diagnosis of Tolosa-Hunt syndrome as defined by the 2013 International Classification of Headache Disorders (Third Edition, ICHD-3 beta) diagnostic criteria. An exhaustive systematic literature search based on these criteria yielded 15 additional cases of Tolosa-Hunt syndrome in children. Clinical, demographic, and radiological features were retrospectively analyzed. The results and statistical analyses are reported. A total of 16 individuals were included in the final analysis. This review summarizes the current knowledge and recommendations for the diagnosis and management of pediatric Tolosa-Hunt syndrome. It highlights demographic, clinical, and radiological features of this disease in children and underscores areas of the literature where evidence is still lacking. Overall, Tolosa-Hunt syndrome seems to follow a similar course in children compared to adults. The diagnostic approach and treatment require specific considerations. New observations and possible features of pediatric Tolosa-Hunt syndrome are discussed. Further research is needed to optimize clinical detection and medical management of this disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

    Science.gov (United States)

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

    2015-12-01

    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,Psyndrome patients (Psyndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  13. Are personality patterns and clinical syndromes associated with patients' motives and perceived outcome of orthognathic surgery?

    Science.gov (United States)

    Øland, Jesper; Jensen, John; Melsen, Birte; Elklit, Ask

    2010-12-01

    A study of surgical-orthodontic patients was performed to assess whether signs of personality patterns and psychologically defined clinical syndromes influenced patients' motives for treatment, perceived oral function, self-concept, social interaction, and overall satisfaction with treatment. The sample consisted of 92 adult surgical-orthodontic patients. They filled out 3 questionnaires from Kiyak et al: one on motives for treatment; another on perceived oral function, self-concept, and social interaction; and a third on satisfaction with treatment outcome. The Millon Clinical Multiaxial Inventory III was used for classification of personality patterns and clinical syndromes. Patients with signs of a schizoid personality pattern expressed stronger presurgical motives than other patients. Concerning self-concept and social interaction, the patients showing signs of personality patterns and clinical syndromes, in general, perceived themselves as worse than the other patients. However, differences were only evident before treatment. Overall satisfaction was independent of the psychological profile. Histrionic and narcissistic personality patterns seemed to be overrepresented among surgical-orthodontic patients compared with the general population. Patients who showed signs of certain personality patterns and clinical syndromes improved most from treatment in terms of self-concept and social interaction, and such traits did not influence their degree of satisfaction. Copyright © 2010 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  14. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma.

    Science.gov (United States)

    Wall, Christopher J; Lynch, Joan; Harris, Ian A; Richardson, Martin D; Brand, Caroline; Lowe, Adrian J; Sugrue, Michael

    2010-03-01

    Acute compartment syndrome is a serious and not uncommon complication of limb trauma. The condition is a surgical emergency, and is associated with significant morbidity if not managed appropriately. There is variation in management of acute limb compartment syndrome in Australia. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma were developed in accordance with Australian National Health and Medical Research Council recommendations. The guidelines were based on critically appraised literature evidence and the consensus opinion of a multidisciplinary team involved in trauma management who met in a nominal panel process. Recommendations were developed for key decision nodes in the patient care pathway, including methods of diagnosis in alert and unconscious patients, appropriate assessment of compartment pressure, timing and technique of fasciotomy, fasciotomy wound management, and prevention of compartment syndrome in patients with limb injuries. The recommendations were largely consensus based in the absence of well-designed clinical trial evidence. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma have been developed that will support consistency in management and optimize patient health outcomes.

  15. How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

    Science.gov (United States)

    Downs, Jenny; Forbes, David; Johnson, Michael; Leonard, Helen

    2016-08-01

    Rett syndrome is a rare disorder caused by a mutation in the MECP2 gene. Those affected generally have severe functional impairments, and medical comorbidities such as scoliosis and poor growth are common. There is a paucity of information on the natural history of many rare disorders and an even greater deficit of evidence to guide best practice. The population-based and longitudinal Australian Rett Syndrome Database established in 1993 has supported investigations of the natural history of Rett syndrome and effectiveness of treatments. This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework. Compared with conservative management, we have shown that spinal fusion is associated with reduced mortality and better respiratory health. We have also shown that gastrostomy insertion is associated with subsequent weight gain. Family counselling for both procedures necessarily must include family perspectives and careful clinical attention to their needs and wishes. Vignettes describing family decision-making and experiences are presented to illustrate the principals of beneficence and autonomy in determining the best interests of the child and family. A blend of evidence-based practice with a strong clinical ethics framework has capacity to build existing strengths in families and reduce the negative impacts of disability and in so doing, optimise the health and wellbeing of those with Rett syndrome. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  16. A Clinical Scoring System for Distinguishing Patients With Coincident Cubital Tunnel Syndrome Among Patients With Carpal Tunnel Syndrome.

    Science.gov (United States)

    Koh, Justin; Azari, Kodi K; Benhaim, Prosper

    2017-01-01

    Background: Coincident carpal and cubital tunnel syndromes present a diagnostic challenge, exacerbated by the limitations of nerve conduction study (NCS) for confirming cubital tunnel syndrome. This study develops a diagnostic scoring system, the Koh-Benhaim (KB) score, to identify patients with coincident compression neuropathies. Methods: A retrospective review of 515 patients was performed from patients surgically treated for carpal and/or cubital tunnel release. These patients were divided as patients with isolated carpal tunnel syndrome (n = 337) or coincident carpal and cubital tunnel syndromes (n = 178), then characterized according to demographics, medical history, physical examination, and NCS results. Univariate and multivariate logistic regression identified predictors of coincident neuropathy. A clinical score was constructed by integerizing regression coefficients of predictive factors. Receiver operating characteristic (ROC) curves were generated for each iteration of the score. Sensitivities, specificities, and positive and negative predictive values were calculated to identify the best cutoff value. Results: Decreased intrinsic muscle strength, decreased ulnar sensation, positive elbow flexion test, positive cubital tunnel Tinel's sign, and abnormal NCS result were selected. The cutoff value for high risk of coincident compression was 3 points: positive predictive value, 82.9% and specificity, 93.4%. Model performance was very good-ROC area under the curve of 0.917. Conclusions: A KB score of 3 or greater represents high risk of coincident cubital tunnel compression. The variables involved are routinely used to assess the cubital tunnel, and all component factors of the KB score were of equivalent clinical weight in assessing patients with potential coincident compression neuropathy.

  17. Vibratory sensory testing in acute compartment syndromes: a clinical and experimental study.

    Science.gov (United States)

    Phillips, J H; Mackinnon, S E; Beatty, S E; Dellon, A L; O'Brien, J P

    1987-05-01

    Invasive and noninvasive diagnostic testing was correlated in 11 patients with acute compartmental syndromes of the forearm. The excellent correlation between diminished perception of vibration and increasing compartmental pressure suggested that 256 cycle per second (cps) vibratory stimuli may be useful clinically in determining the appropriate time for surgical intervention in the acute compartmental syndrome. In 12 adult male volunteers, elevated compartment pressures were created in the anterior tibial compartment of the leg. A decrease in perception to 256 cycle per second (cps) vibratory stimulus was the earliest sensory abnormality to occur with elevated tissue compartment pressures. Analysis of variance showed significantly that 256-cps vibration was the most reliable and earliest sensory modality to change at pressures of 35 to 40 mmHg. These clinical and experimental findings support the use of the 256-cps tuning fork as a noninvasive diagnostic test in the evaluation of the patient with suspected acute compartment syndrome.

  18. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.

    Science.gov (United States)

    Mai, Phuong L; Malkin, David; Garber, Judy E; Schiffman, Joshua D; Weitzel, Jeffrey N; Strong, Louise C; Wyss, Oliver; Locke, Luana; Means, Von; Achatz, Maria Isabel; Hainaut, Pierre; Frebourg, Thierry; Evans, D Gareth; Bleiker, Eveline; Patenaude, Andrea; Schneider, Katherine; Wilfond, Benjamin; Peters, June A; Hwang, Paul M; Ford, James; Tabori, Uri; Ognjanovic, Simona; Dennis, Phillip A; Wentzensen, Ingrid M; Greene, Mark H; Fraumeni, Joseph F; Savage, Sharon A

    2012-10-01

    Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium. Published by Elsevier Inc.

  19. Risk factors for treatment related clinical fluctuations in Guillain-Barré syndrome. Dutch Guillain-Barré study group

    NARCIS (Netherlands)

    L.H. Visser (Leendert); F.G.A. van der Meché (Frans); J. Meulstee (Jan); P.A. van Doorn (Pieter)

    1998-01-01

    textabstractThe risk factors for treatment related clinical fluctuations, relapses occurring after initial therapeutic induced stabilisation or improvement, were evaluated in a group of 172 patients with Guillain-Barre syndrome. Clinical, laboratory, and electrodiagnostic features

  20. A Clinical Approach to the Diagnosis of Traumatic Encephalopathy Syndrome: A Review.

    Science.gov (United States)

    Reams, Nicole; Eckner, James T; Almeida, Andrea A; Aagesen, Andrea L; Giordani, Bruno; Paulson, Hank; Lorincz, Matthew T; Kutcher, Jeffrey S

    2016-06-01

    Chronic traumatic encephalopathy (CTE) refers to pathologic changes that have been found in some individuals with a history of repetitive traumatic impact to the head (hereinafter referred to as head trauma). These changes cannot be assessed during the clinical evaluation of a living patient. The neuropathologic features, taxonomy, history, role of biomarkers in diagnosis, and existing criteria of CTE are reviewed. Previous criteria have been proposed to approach the living patient; however, a unified, specific approach is needed for the practicing clinician. We propose a new diagnostic construct for the clinical syndrome associated with repetitive exposure to head trauma: traumatic encephalopathy syndrome. This clinical paradigm will provide the framework for a diagnosis of probable, possible, and unlikely traumatic encephalopathy syndrome, with included discussion regarding the minimum exposure, nature of the clinical course, and additional clinical features needed for diagnosis. While prospective longitudinal studies are ongoing to further elucidate the association of exposure to head trauma, clinical features, and the development of pathologic changes, a corresponding clinical construct for diagnosis is necessary.

  1. The clinical aspects of the acute facet syndrome

    DEFF Research Database (Denmark)

    Hestbaek, Lise; Kongsted, Alice; Jensen, Tue Secher

    2009-01-01

    group of chiropractic practitioners was seen to be a useful contribution. METHODS: During the annual congress of The European Chiropractors Union (ECU) in 2008, the authors conducted a workshop involving volunteer chiropractors. Topics were decided upon in advance, and the participants were asked...... of four topics relating to the presentation of pain: 1. location, 2. severity, 3. aggravating factors, and 4. relieving factors. Second, the groups were asked to agree on three orthopaedic and three chiropractic tests that would aid in diagnosing pain from the facet joints. Finally, they were asked...... to agree on the number, frequency and duration of chiropractic treatment. RESULTS: Thirty-four chiropractors from nine European countries participated. They described the characteristics of an acute, uncomplicated facet syndrome as follows: local, ipsilateral pain, occasionally extending into the thigh...

  2. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)

    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  3. Proteus syndrome review: molecular, clinical, and pathologic features.

    Science.gov (United States)

    Cohen, M Michael

    2014-02-01

    Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. CLINICAL AND RADIOGRAPHIC FEATURES OF PARRY-ROMBERG SYNDROME

    Directory of Open Access Journals (Sweden)

    Mithula NAIR

    2017-10-01

    Full Text Available Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months. Despite almost complete involvement of the right paramedian area and the early age of onset, she had neither eye changes nor any dental malformations.

  5. Fragile X syndrome: A review of clinical management

    Science.gov (United States)

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

    2016-01-01

    Summary The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance. PMID:27672537

  6. Clinical management of behavioral characteristics of Prader–Willi syndrome

    Science.gov (United States)

    Ho, Alan Y; Dimitropoulos, Anastasia

    2010-01-01

    Prader–Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11–q13) that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall behavior disturbance compared to individuals with similar intellectual disability. Due to its multisystem disorder, family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. This article reviews current research on behavior and cognition in PWS and discusses management guidelines for this disorder. PMID:20505842

  7. Remote clinical prognosis in patients with coronary X syndrome

    Directory of Open Access Journals (Sweden)

    Sebov D.M.

    2015-09-01

    Full Text Available The article analyzes data of 3234 coronary angiographies with established coronary X syndrome (CXS in 217 cases, herewith expressed tortuosity of coronary arteries (ETCA was found out in 148 (more than 2/3 of cases. A 5-years’ analysis of cardio-vascular events (CVE in patients with CXS in comparison with the group of IHD patients and initial atherosclerosis of coronary arteries was made. Absence of reliable difference of developing severe cardio-vascular events (SCVE bet¬ween patients with initial atherosclerosis and CXS was proved. Risk of CVE development was significantey higher in patients with ETCA, OR=4,93; 95% (0,62; 3929. Patients with CXS had higher risk of severe arrhythmias development as compared with IHD patients with initial atherosclerosis: OR=2,36 (1,01; 5,56. There was no reliable difference between lethality of any causes and number of coronary interventions in all groups.

  8. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    OpenAIRE

    Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J M; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco

    2013-01-01

    Abstract Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results Clinical in...

  9. Gut fermentation syndrome | Fayemiwo | African Journal of Clinical ...

    African Journals Online (AJOL)

    African Journal of Clinical and Experimental Microbiology. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 15, No 1 (2014) >. Log in or Register to get access to full text downloads.

  10. Dystonia in complex regional pain syndrome : clinical, pathophysiological and therapeutic aspects

    NARCIS (Netherlands)

    Rijn, Monica Adriana van

    2010-01-01

    The clinical characteristics of Complex Regional Pain Syndrome (CRPS) are defined by pain and various combinations of sensory disturbances, autonomic features, and sudomotor and trophic changes. Furthermore, patients with CRPS may suffer from movement disorders, of which dystonia is the most

  11. Clinical case PAPA-syndrome (pyogenic arthritis, pyoderma gangrenosum, acne conglobata

    Directory of Open Access Journals (Sweden)

    Epifanova A.Y.

    2012-06-01

    Full Text Available

    The study presents a relatively rare case of dermatosis. It is PAPA syndrome in a 23 years-old female patient which is inherited as an autosomal dominant mode. The data about the etiology, pathogenesis, clinical picture were summarized, differential diagnosis was led. Problems with the treatment of the disease have been showed.

  12. Clinical spectrum and risk of PHACE syndrome in cutaneous and airway hemangiomas.

    Science.gov (United States)

    Haggstrom, Anita N; Skillman, Sarah; Garzon, Maria C; Drolet, Beth A; Holland, Kristen; Matt, Bruce; McCuaig, Catherine; Metry, Denise W; Morel, Kimberly; Powell, Julie; Frieden, Ilona J

    2011-07-01

    To describe the clinical presentation and risk of PHACE syndrome in infants with large facial hemangiomas and concomitant airway hemangiomas. The study involved a case series of infants with cutaneous hemangiomas and airway hemangiomas extracted from a prospective multicenter cohort study. Data regarding clinical features, diagnosis, treatment, and clinical course were obtained from medical charts and physician intake forms. All patients were evaluated for PHACE syndrome using a standardized protocol. Six academic pediatric dermatology clinics. The study included 17 patients younger than 1 year who were diagnosed as having large (>22 cm(2)) facial hemangiomas and airway hemangiomas. Thirteen patients (76%) had hemangiomas in the bilateral mandibular distribution. Other observed facial patterns included limited involvement of the lip and chin, unilateral reticular frontotemporal and preauricular hemangiomas, and large unilateral hemifacial hemangiomas. Fourteen patients (82%) had symptomatic airway involvement. All symptomatic patients had subglottic airway hemangiomas. The airway hemangioma was circumferential in 10 patients (58%) and more focal in distribution in 7 patients (42%). All patients were treated with oral prednisolone. Eleven patients required additional multimodal therapy. Eight patients (47%) met the criteria for PHACE syndrome. Airway hemangiomas represent a potentially fatal complication of infantile hemangiomas. Our data highlight cutaneous presentations in patients with subglottic hemangiomas and large (>22 cm(2)) cutaneous hemangiomas. PHACE syndrome was detected in 8 such patients (47%) in our series.

  13. Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study

    NARCIS (Netherlands)

    Wilde, Arthur A. M.; Moss, Arthur J.; Kaufman, Elizabeth S.; Shimizu, Wataru; Peterson, Derick R.; Benhorin, Jesaia; Lopes, Coeli; Towbin, Jeffrey A.; Spazzolini, Carla; Crotti, Lia; Zareba, Wojciech; Goldenberg, Ilan; Kanters, Jørgen K.; Robinson, Jennifer L.; Qi, Ming; Hofman, Nynke; Tester, David J.; Bezzina, Connie R.; Alders, Marielle; Aiba, Takeshi; Kamakura, Shiro; Miyamoto, Yoshihiro; Andrews, Mark L.; McNitt, Scott; Polonsky, Bronislava; Schwartz, Peter J.; Ackerman, Michael J.

    2016-01-01

    Risk stratification in patients with type 3 long-QT syndrome (LQT3) by clinical and genetic characteristics and effectiveness of β-blocker therapy has not been studied previously in a large LQT3 population. The study population included 406 LQT3 patients with 51 sodium channel mutations; 391

  14. Consistency between Research and Clinical Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

    Science.gov (United States)

    Klusek, J.; Martin, G. E.; Losh, M.

    2014-01-01

    Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

  15. Clinical outcome after unilateral oophorectomy in patients with polycystic ovary syndrome

    NARCIS (Netherlands)

    Kaaijk, E. M.; Hamerlynck, J. V.; Beek, J. F.; van der Veen, F.

    1999-01-01

    The objective of this study is to report retrospectively on the clinical outcome of unilateral oophorectomy in 14 women with polycystic ovary syndrome who had undergone this treatment 14-18 years ago in our hospital for clomiphene citrate-resistant anovulation and long standing infertility or for

  16. Clinical significance of C4d in SLE and antiphospholipid syndrome

    NARCIS (Netherlands)

    Cohen, Danielle

    2012-01-01

    This thesis describes the clinical significance of thebiomarker C4d, a split product of the complement system, in several manifestations of systemic autoimmunediseases such as SLE and antiphospholipid syndrome. The findings in this thesis suggest that this biomarker might be of use in unraveling

  17. Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign

    Science.gov (United States)

    Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

    2004-01-01

    We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

  18. Marinesco-Sjogren syndrome due to SIL1 mutations with a comment on the clinical phenotype

    NARCIS (Netherlands)

    Horvers, M.; Anttonen, A.K.; Lehesjoki, A.E.; Morava, E.; Wortmann, S.B.; Vermeer, S.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.

    2013-01-01

    BACKGROUND: Marinesco-Sjogren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene. METHODS: The clinical features and two novel SIL1 mutations of four Dutch patients with

  19. Developmental Right-Hemisphere Syndrome: Clinical Spectrum of the Nonverbal Learning Disability.

    Science.gov (United States)

    Gross-Tsur, Varda; And Others

    1995-01-01

    This study reports clinical characteristics of developmental right-hemisphere syndrome, a nonverbal learning disability, in 20 children (mean age 9.5 years) who also manifested attention-deficit/hyperactivity disorder, graphomotor problems, and slow performance. Diagnostic criteria included emotional and interpersonal difficulties, paralinguistic…

  20. Treatment of Mucosa-associated Lymphoid Tissue Lymphoma in Sjogren's Syndrome : A Retrospective Clinical Study

    NARCIS (Netherlands)

    Pollard, Rodney P. E.; Pijpe, Justin; Bootsma, Hendrika; Spijkervet, Fred K. L.; Kluin, Philip M.; Roodenburg, Jan L. N.; Kallenberg, Cees G. M.; Vissink, Arjan; van Imhoff, Gustaaf W.

    2011-01-01

    Objective. To retrospectively analyze the clinical course of patients with mucosa-associated lymphoid tissue (MALT)-type lymphoma of the parotid gland and associated Sjogren's syndrome (SS). Methods. All consecutive patients with SS and MALT lymphoma (MALT-SS) diagnosed in the University Medical

  1. Clinical Features Differ Substantially Between Caucasian and Asian Populations of Marfan Syndrome

    NARCIS (Netherlands)

    Franken, Romy; den Hartog, Alexander W; van de Riet, Liz; Timmermans, Janneke; Scholte, Arthur J; van den Berg, Maarten P; de Waard, Vivian; Zwinderman, Aeilko H; Groenink, Maarten; Yip, James W; Mulder, Barbara J M

    2013-01-01

    Background: Prevention of aortic dissection and sudden death in patients with Marfan syndrome (MFS) requires accurate diagnosis. MFS is diagnosed by the Ghent criteria, which are primarily based on clinical features of Caucasian MFS populations. We determined whether the Ghent criteria apply to

  2. Clinical features differ substantially between caucasian and asian populations of marfan syndrome

    NARCIS (Netherlands)

    Franken, R.; Hartog, A.W. den; Riet, L. te; Timmermans, J.; Scholte, A.J.; Berg, M.P van den; Waard, V. de; Zwinderman, A.H.; Groenink, M.; Yip, J.W.; Mulder, B.J.

    2013-01-01

    Background: Prevention of aortic dissection and sudden death in patients with Marfan syndrome (MFS) requires accurate diagnosis. MFS is diagnosed by the Ghent criteria, which are primarily based on clinical features of Caucasian MFS populations. We determined whether the Ghent criteria apply to

  3. "Klebsiella Pneumonia" Liver Abscess Syndrome: Case Presentation to a College Student Health Clinic

    Science.gov (United States)

    Woll, Christopher; Spotts, P. Hunter

    2016-01-01

    The authors describe a case of "Klebsiella pneumoniae" liver abscess (KPLA) in a student presenting to a university student health center. The authors also provide a review of KPLA and invasive "Klebsiella pneumoniae" liver abscess syndrome (IKPLAS), including epidemiology, common clinical manifestations, standard diagnostic…

  4. Down Syndrome in the Neurology Clinic: Too Much? Too Little? Too Late?

    Science.gov (United States)

    Larner, Andrew J.

    2007-01-01

    This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in greater than 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in…

  5. Porcine Reproductive and Respiratory Syndrome (PRRS) with special reference to clinical aspects and diagnosis: a review

    NARCIS (Netherlands)

    Nodelijk, G.

    2002-01-01

    After a short introduction on Porcine Reproductive and Respiratory Syndrome (PRRS) regarding the history, the first occurrence in several countries, and the causal virus, designated Lelystad virus, a description is given of the clinical aspects and several diagnostic methods. After some general

  6. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

    NARCIS (Netherlands)

    Koolen, D.A.; Sharp, A.J.; Hurst, J.A.; Firth, H.V.; Knight, S.J.; Goldenberg, A.; Saugier-Veber, P.; Pfundt, R.P.; Vissers, L.E.L.M.; Destree, A.; Grisart, B.; Rooms, L.; Aa, N. van der; Field, M.; Hackett, A.; Bell, K.; Nowaczyk, M.J.; Mancini, G.M.; Poddighe, P.J.; Schwartz, C.E.; Rossi, E.; Gregori, M. de; Antonacci-Fulton, L.L.; McLellan, MD2nd; Garrett, J.M.; Wiechert, M.A.; Miner, T.L.; Crosby, S.; Ciccone, R.; Willatt, L.; Rauch, A.; Zenker, M.; Aradhya, S.; Manning, M.A.; Strom, T.M.; Wagenstaller, J.; Krepischi-Santos, A.C.; Vianna-Morgante, A.M.; Rosenberg, C.; Price, S.M.; Stewart, H.; Shaw-Smith, C.; Brunner, H.G.; Wilkie, A.O.; Veltman, J.A.; Zuffardi, O.; Eichler, E.E.; Vries, L.B.A. de

    2008-01-01

    BACKGROUND: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM: We report the molecular and/or clinical characterisation of 22 individuals with the

  7. An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.

    OpenAIRE

    Patton, M A; Baraitser, M; Heagerty, A H; Eady, R A

    1987-01-01

    A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are similar to those of the oculocerebral hypopigmentation syndrome described by Preus et al.

  8. Impact of timing to coronary angiography in acute coronary syndrome on contemporary clinical practice

    OpenAIRE

    Koh, Angela S.; Chia, Stanley; JKB, TAN; Zaini, Siti M; KWQ, Guo; KK, Yeo; Chua TSJ; Koh, Tian Hai; Tan, Jack W C

    2012-01-01

    Recent studies appear to suggest a correlation between timing to coronary angiography and clinical outcome among patients with acute coronary syndrome (ACS). We aim to study 12-month outcomes of ACS patients who are stratified according to early (≤24 hours), intermediate (>24 to 24 to

  9. Clinical, Etiologic, and Histopathologic Features of Stevens-Johnson Syndrome During an 8-Year Period at Mayo Clinic

    Science.gov (United States)

    Wetter, David A.; Camilleri, Michael J.

    2010-01-01

    OBJECTIVE: To examine clinical, etiologic, and histologic features of Stevens-Johnson syndrome and to identify possible correlates of clinical disease severity related to etiologic and histopathologic findings. PATIENTS AND METHODS: This is a retrospective review of patients seen at Mayo Clinic between January 1, 2000, and December 31, 2007. RESULTS: Of 27 patients (mean age, 28.1 years), 22 (81%) had involvement of 2 or more mucous membranes, and 19 (70%) had ocular involvement. Medications, most commonly antibiotics and anticonvulsants, were causative in 20 patients. Mycoplasma pneumoniae infection caused 6 of the 27 cases. Corticosteroids were the most common systemic therapy. No patients with mycoplasma-induced Stevens-Johnson syndrome had internal organ involvement or required treatment in the intensive care unit, in contrast to 4 patients each in the drug-induced group. Three patients had chronic ocular sequelae, and 1 died of complications. Biopsy specimens from 13 patients (48%) showed epidermal necrosis (8 patients), basal vacuolar change (10 patients), and subepidermal bullae (10 patients). Biopsy specimens from 11 patients displayed moderate or dense dermal infiltrate. Histologic features in drug-induced cases included individual necrotic keratinocytes, dense dermal infiltrate, red blood cell extravasation, pigment incontinence, parakeratosis, and substantial eosinophils or neutrophils. CONCLUSION: Our clinical and etiologic findings corroborate those in previous reports. M pneumoniae—induced Stevens-Johnson syndrome manifested less severely than its drug-induced counterpart. The limited number of biopsies precludes unequivocal demonstration of histopathologic differences between drug-induced and M pneumoniae—induced Stevens-Johnson syndrome. PMID:20118388

  10. Optimism and Recovery After Acute Coronary Syndrome: A Clinical Cohort Study

    OpenAIRE

    Ronaldson, Amy; Molloy, Gerard J.; Wikman, Anna; Poole, Lydia; Kaski, Juan-Carlos; Steptoe, Andrew

    2015-01-01

    ABSTRACT Objective Optimism is associated with reduced cardiovascular mortality, but its impact on recovery after acute coronary syndrome (ACS) is poorly understood. We hypothesized that greater optimism would lead to more effective physical and emotional adaptation after ACS and would buffer the impact of persistent depressive symptoms on clinical outcomes. Methods This prospective observational clinical study took place in an urban general hospital and involved 369 patients admitted with a ...

  11. Clinical characteristics of a sample of patients with cat eye syndrome.

    Science.gov (United States)

    Rosa, Rafael Fabiano Machado; Mombach, Rômulo; Zen, Paulo Ricardo Gazzola; Graziadio, Carla; Paskulin, Giorgio Adriano

    2010-01-01

    Cat eye syndrome is considered a rare chromosome disease with a highly variable phenotype. The objective of this paper was to describe the clinical characteristics of a sample of patients with cat eye syndrome who were seen at our service. This is a retrospective analysis of a sample of six patients with diagnoses of cat eye syndrome. All of these patients’ karyotypes exhibited the presence of an additional marker chromosome, inv dup(22)(pter->q11.2::q11.2->pter). One patient also exhibited mosaicism with a lineage that had a normal chromosomal constitution. Clinical and follow-up data were collected from the patients’ medical records. Fisher’s exact test was used to compare the frequencies observed in our study with figures given in the literature (Psyndrome, was observed in two cases (33%). Congenital heart disease was detected in four patients (67%) and the main defect found was interatrial communication (75%). Uncommon findings included hemifacial microsomia combined with unilateral microtia and biliary atresia. Just one of these patients died, from chylothorax and sepsis. The phenotype observed in cat eye syndrome is highly variable and may be superimposed on the phenotype of the oculo-auriculo-vertebral spectrum. Although these patients usually have good prognosis, including from a neurological point of view, we believe that all patients with the syndrome should be assessed very early on for the presence of cardiac, biliary and anorectal malformations, which may avoid possible complications in the future, including patient deaths.

  12. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes.

    Science.gov (United States)

    Ozkurede, V U; Franchi, L

    2012-03-01

    OTHER THEMES PUBLISHED IN THIS IMMUNOLOGY IN THE CLINIC REVIEW SERIES Allergy, Host Responses, Cancer, Type 1 diabetes and viruses, Metabolic diseases. Autoinflammatory syndromes are disorders characterized by the hyperactivation of the innate immune system in the absence of microbial infection or autoantibody production. Some autoinflammatory syndromes are associated with recurrent episodes of fever and systemic inflammation that are caused by dysregulated activation of inflammasomes, molecular platforms responsible for the activation of caspase-1 and the production of interleukin (IL)-1β. In this review we will discuss the role of IL-1β and the inflammasomes in host defence and how mutations of two genes, NLRP3 and PYRIN, leads to the autoinflammatory syndromes, cryopyrin-associated periodic syndromes (CAPS) and familial Mediterranean fever (FMF). Both CAPS and FMF are characterized by increased inflammasome activity and overproduction of IL-1β which is ultimately responsible for disease manifestations. Importantly, understanding the molecular mechanisms of these syndromes has led to effective treatment for these rare diseases with biological drugs that target IL-1β-mediated signalling. © 2011 The Authors. Clinical and Experimental Immunology © 2011 British Society for Immunology.

  13. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    Energy Technology Data Exchange (ETDEWEB)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna [Our Lady' s Children' s Hospital, Department of Radiology, Dublin (Ireland); Watson, Rosemarie; Irvine, Alan D. [Our Lady' s Children' s Hospital, Department of Dermatology, Dublin (Ireland)

    2011-09-15

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  14. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

    Science.gov (United States)

    Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

    2017-10-02

    Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

  15. [A Novel Clinical Entity "Anti-PIT-1 Antibody Syndrome"--Autoimmunity against a Transcription Factor].

    Science.gov (United States)

    Takahashi, Yutaka; Bando, Hironori; Iguchi, Genzo

    2015-04-01

    Autoimmunity against the pituitary has been observed in patients with hypophysitis. Although various autoantibodies against pituitary proteins have been reported, it is known that most of them are markers for the disease. Recently, a unique autoantibody against pituitary transcription factor PIT-1 (POU1F1) was detected in patients with an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH). The antibody has been suggested to be involved in the pathogenesis because PIT-1 is an essential transcription factor that plays a role in the differentiation and maintenance of GH-, PRL-, and TSH-producing cells and mutations in the PIT-1 gene, resulting in a specific defect in these hormones. This syndrome was found to be a novel clinical entity; therefore, it was named 'anti-PIT-1 antibody syndrome'. Circulating anti-PIT-1 antibody and various autoantibodies were detected with multiple endocrine organopathy, meeting the definition of autoimmune polyglandular syndrome. Mechanistically, cytotoxic T lymphocytes that specifically react with PIT-1 protein play an important role in the development of this syndrome. In this review, we discuss the clinical aspects and pathophysiology of anti-PIT-1 antibody syndrome.

  16. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

    LENUS (Irish Health Repository)

    Bracken, Jennifer

    2012-02-01

    BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin\\/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.

  17. Pain perception in people with Down syndrome: a synthesis of clinical and experimental research

    Science.gov (United States)

    McGuire, Brian E.; Defrin, Ruth

    2015-01-01

    People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain perception of people with Down syndrome. In this review paper, we evaluated the available clinical and experimental evidence. Some experimental studies of acute pain have indicated that pain threshold was higher than normal but only when using a reaction time method to measure pain sensitivity. However, when reaction time is not part of the calculation of the pain threshold, pain sensitivity in people with Down syndrome is in fact lower than normal (more sensitive to pain). Clinical studies of chronic pain have shown that people with an intellectual disability experience chronic pain and within that population, people with Down syndrome also experience chronic pain, but the precise prevalence of chronic pain in Down syndrome has yet to be established. Taken together, the literature suggests that people with Down syndrome experience pain, both acute and chronic, with at least the same frequency as the rest of the population. Furthermore, the evidence suggests that although acute pain expression appears to be delayed, once pain is registered, there appears to be a magnified pain response. We conclude by proposing an agenda for future research in this area. PMID:26283936

  18. Metabolic Syndrome and Associated Diseases: From the Bench to the Clinic.

    Science.gov (United States)

    Mendrick, Donna L; Diehl, Anna Mae; Topor, Lisa S; Dietert, Rodney R; Will, Yvonne; La Merrill, Michele A; Bouret, Sebastien; Varma, Vijayalaskshmi; Hastings, Kenneth L; Schug, Thaddeus T; Emeigh Hart, Susan G; Burleson, Florence G

    2017-11-02

    Metabolic Syndrome and Associated Diseases: From the Bench to the Clinic, a Society of Toxicology Contemporary Concepts in Toxicology (CCT) workshop was held on March 11, 2017. The meeting was convened to raise awareness of metabolic syndrome and its associated diseases and serve as a melting pot with scientists of multiple disciplines (e.g., toxicologists, clinicians, regulators) so as to spur research and understanding of this condition. The criteria for metabolic syndrome include obesity, dyslipidemia (low HDL and/or elevated triglycerides), elevated blood pressure, and alterations in glucose metabolism. It can lead to a greater potential of type 2 diabetes, lipid disorders, cardiovascular disease, hepatic steatosis and other circulatory disorders. While there are no approved drugs specifically for this syndrome, many drugs target diseases associated with this syndrome thus potentially increasing the likelihood of drug-drug interactions. There is currently significant research focusing on understanding the key pathways that control metabolism, which would be likely targets of risk factors (e.g., exposure to xenobiotics, genetics) and lifestyle factors (e.g., microbiome, nutrition, and exercise) that contribute to metabolic syndrome. Understanding these pathways could also lead to the development of pharmaceutical interventions. As individuals with metabolic syndrome have signs similar to that of toxic responses (e.g., oxidative stress and inflammation) and organ dysfunction, these alterations should be taken into account in drug development. With the increasing frequency of metabolic syndrome in the general population, the idea of a "normal" individual may need to be redefined. This paper reports on the substance and outcomes of this workshop. Published by Oxford University Press on behalf of the Society of Toxicology 2017. This work is written by US Government employees and is in the public domain in the US.

  19. Variable Clinical Phenotypes of α-Thalassemia Syndromes

    Directory of Open Access Journals (Sweden)

    Sylvia Titi Singer

    2009-01-01

    Full Text Available Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other α-thalassemia variants call for more attention for improved screening methods and better care.

  20. Irritable Bowel Syndrome: Clinical Manifestations, Dietary Influences, and Management

    Directory of Open Access Journals (Sweden)

    Ronald Ikechi

    2017-04-01

    Full Text Available Irritable bowel syndrome (IBS is a functional gastrointestinal disorder that is characterized by symptoms of chronic abdominal pain and altered bowel habits in the absence of an overtly identifiable cause. It is the most commonly diagnosed functional gastrointestinal disorder, accounting for about one third of gastroenterology visits. It generally presents as a complex of symptoms, including psychological dysfunction. Hypersensitivity to certain foods, especially foods that contain high amounts of fructose, plays a role in the pathophysiology of IBS. Elevated consumption of high-fructose corn syrup (HFCS has been discussed in this aspect. The treatment options for IBS are challenging and varied. In addition to dietary restrictions for HFCS-induced IBS, such as low-FODMAP (Fermentable Oligosaccharides, Disaccharide, Monosaccharides, and Polyols diets, existing drug therapies are administered based on the predominant symptoms and IBS-subtype. Patients with IBS are likely to suffer from issues, such as anxiety, depression, and post-traumatic-stress disorder. Biopsychosocial factors particularly socioeconomic status, sex, and race should, thus, be considered for diagnostic evaluation of patients with IBS.

  1. Clinical Practice Guideline of Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    Young-Jae Cho

    2016-05-01

    Full Text Available There is no well-stated practical guideline for mechanically ventilated patients with or without acute respiratory distress syndrome (ARDS. We generate strong (1 and weak (2 grade of recommendations based on high (A, moderate (B and low (C grade in the quality of evidence. In patients with ARDS, we recommend low tidal volume ventilation (1A and prone position if it is not contraindicated (1B to reduce their mortality. However, we did not support high-frequency oscillatory ventilation (1B and inhaled nitric oxide (1A as a standard treatment. We also suggest high positive end-expiratory pressure (2B, extracorporeal membrane oxygenation as a rescue therapy (2C, and neuromuscular blockage for 48 hours after starting mechanical ventilation (2B. The application of recruitment maneuver may reduce mortality (2B, however, the use of systemic steroids cannot reduce mortality (2B. In mechanically ventilated patients, we recommend light sedation (1B and low tidal volume even without ARDS (1B and suggest lung protective ventilation strategy during the operation to lower the incidence of lung complications including ARDS (2B. Early tracheostomy in mechanically ventilated patients can be performed only in limited patients (2A. In conclusion, of 12 recommendations, nine were in the management of ARDS, and three for mechanically ventilated patients.

  2. Clinical Assessment of Tourette Syndrome and Tic Disorders

    Science.gov (United States)

    Cohen, Stephanie; Leckman, James F.; Bloch, Michael H.

    2013-01-01

    Tourette Syndrome (TS) is a neuropsychiatric disorder involving multiple motor and phonic tics. Tics, which usually begin between the ages of 6 and 8, are sudden, rapid, stereotyped, and apparently purposeless movements or sounds that involve discrete muscle groups. Individuals with TS experience a variety of different sensory phenomena, including premonitory urges prior to tics and somatic hypersensitivity due to impaired sensorimotor gating. In addition to other conditions, stress, anxiety, fatigue, or other heightened emotional states tend to exacerbate tics, while relaxation, playing sports, and focused concentration on a specific task tend to alleviate tic symptoms. Ninety percent of children with TS also have comorbid conditions, such as Attention deficit hyperactivity disorder (ADHD), Obsessive-compulsive disorder (OCD), or an impulse control disorder. These disorders often cause more problems for the child both at home and at school than tics do alone. Proper diagnosis and treatment of TS involves appropriate evaluation and recognition, not only of tics, but also of these associated conditions. PMID:23206664

  3. Angelman syndrome: review of clinical and molecular aspects

    Directory of Open Access Journals (Sweden)

    Bird LM

    2014-05-01

    Full Text Available Lynne M Bird1Department of Pediatrics, University of California, Division of Genetics, Rady Children’s Hospital, San Diego, California, USAAbstract: “Angelman syndrome” (AS is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily provoked laughter, short attention span, hypermotoric behavior, mouthing of objects, sleep disturbance, and an affinity for water. Microcephaly and subtle dysmorphic features, as well as ataxia and other movement disturbances, are additional features seen in most affected individuals. AS is due to deficient expression of the ubiquitin protein ligase E3A (UBE3A gene, which displays paternal imprinting. There are four molecular classes of AS, and some genotype–phenotype correlations have emerged. Much remains to be understood regarding how insufficiency of E6-AP, the protein product of UBE3A, results in the observed neurodevelopmental deficits. Studies of mouse models of AS have implicated UBE3A in experience-dependent synaptic remodeling.Keywords: Angelman syndrome, chromosome 15q11-13, UBE3A, imprinting

  4. Irritable Bowel Syndrome: Clinical Manifestations, Dietary Influences, and Management

    Science.gov (United States)

    Ikechi, Ronald; Fischer, Bradford D.; DeSipio, Joshua; Phadtare, Sangita

    2017-01-01

    Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder that is characterized by symptoms of chronic abdominal pain and altered bowel habits in the absence of an overtly identifiable cause. It is the most commonly diagnosed functional gastrointestinal disorder, accounting for about one third of gastroenterology visits. It generally presents as a complex of symptoms, including psychological dysfunction. Hypersensitivity to certain foods, especially foods that contain high amounts of fructose, plays a role in the pathophysiology of IBS. Elevated consumption of high-fructose corn syrup (HFCS) has been discussed in this aspect. The treatment options for IBS are challenging and varied. In addition to dietary restrictions for HFCS-induced IBS, such as low-FODMAP (Fermentable Oligosaccharides, Disaccharide, Monosaccharides, and Polyols) diets, existing drug therapies are administered based on the predominant symptoms and IBS-subtype. Patients with IBS are likely to suffer from issues, such as anxiety, depression, and post-traumatic-stress disorder. Biopsychosocial factors particularly socioeconomic status, sex, and race should, thus, be considered for diagnostic evaluation of patients with IBS. PMID:28445436

  5. Clinical frailty syndrome assessment using inertial sensors embedded in smartphones.

    Science.gov (United States)

    Galán-Mercant, A; Cuesta-Vargas, A I

    2015-09-01

    The aim of this study was to identify the series of kinematic variables demonstrating the greatest precision in discriminating between the function of two groups of elderly persons (frail and non-frail) in the 10 m expanded timed up and go (ETUG) test using inertial sensors embedded in the iPhone 4(®). A cross-sectional study was conducted to identify the kinematic variables with the highest degree of precision in discriminating between the two groups. The predicted capability of the kinematic variables was evaluated using receiver operating characteristic curves. The sample comprised 30 participants over 65 years old, 14 frail and 16 non-frail, assessed for frailty syndrome using the Fried criteria. Acceleration variables discriminated between the participant groups in the study; specifically these were the peak negative acceleration variables for motion axes x, y and z. In terms of sensitivity, the values were greater than or equal to those for the variable traditionally used to discriminate in the ETUG test, namely time. The kinematic parameters obtained from the internal inertial sensors in the iPhone 4(®) are promising additions to the ETUG analysis. There are encouraging signs that the analyses of these parameters in the separate phases of the ETUG procedure offer the potential for improved discrimination between frail and non-frail individuals. However, further in-depth study is required to verify the findings.

  6. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    Science.gov (United States)

    Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton-Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angus; Barnicoat, Angela; Wallis, Colin; Hewitson, Rebecca; Offiah, Amaka; Saunders, Michael; Langton-Hewer, Simon; Hilliard, Tom; Davis, Peter; Smithson, Sarah

    2016-05-01

    Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development. © 2016 Wiley Periodicals, Inc.

  7. Tics and Tourette syndrome: clinical evaluation of 44 cases

    Directory of Open Access Journals (Sweden)

    Teive Hélio A.G.

    2001-01-01

    Full Text Available We evaluated 44 patients with tics and Tourette's syndrome (TS emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2% had TS defined criteria whereas 10 (22.7% had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7%, mainly affecting the eyes (43.2%, mouth (43.2%, face (34.1%. Simple vocal tics occurred in 33 (75%. Coprolalia was found in just 6 cases (13.6% and copropraxia in just 2 (4.5%. Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1% and attention deficit in 17 (38.6%. Eighteen patients (40.9% had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders.

  8. Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.

    Science.gov (United States)

    Gibbons, B; Scott, D; Hungerford, J L; Cheung, K L; Harrison, C; Attard-Montalto, S; Evans, M; Birch, J M; Kingston, J E

    1995-06-01

    Two children presenting with sporadic unilateral retinoblastoma and exhibiting a high degree of chromosome breakage were noted to have unusual facies, microcephaly and abnormal skin pigmentation. In the first child the pattern of both spontaneous and mitomycin-C-induced chromosome breakage was characteristic of Fanconi's anaemia although the degree of breakage was extreme. She also exhibited a striking increase in X-ray-induced chromosomal damage in G0 lymphocytes as measured by dicentric formation and increase in chromatid-type aberrations. She had a number of typical clinical features, including cafe-au-lait patches and abnormalities involving the kidney; however, she demonstrated neither the hypoplasia of radius and thumb nor the typical aplastic phase of this disorder. At age 22 months the child became anaemic with trilineage myelodysplasia, which was rapidly followed by the development of acute myeloblastic leukaemia. The early onset (at age 4 months) of retinoblastoma may have been associated with the underlying genomic instability. The second child exhibited a pattern of chromosome breakage characteristic of Bloom's syndrome, in addition to a moderate increase in damage induced by mytomycin-C. She had the typical stunted growth and malar hypoplasia of Bloom's syndrome although she did not demonstrate the frequently described erythematous 'butterfly rash' Although patients with Fanconi's anaemia and Bloom's syndrome are recognised to be at an increased risk of cancer, retinoblastoma has not previously been described in patients with either condition. We suggest that underlying recessive chromosome breakage syndromes may be underdiagnosed in paediatric cancer patients, with important implications for prognosis and genetic counselling.

  9. Association of Cholesterol Efflux Capacity With Clinical Features of Metabolic Syndrome: Relevance to Atherosclerosis.

    Science.gov (United States)

    Gall, Julie; Frisdal, Eric; Bittar, Randa; Le Goff, Wilfried; Bruckert, Eric; Lesnik, Philippe; Guerin, Maryse; Giral, Philippe

    2016-11-23

    The contribution of high-density lipoprotein to cardiovascular benefit is closely linked to its role in the cellular cholesterol efflux process; however, various clinical and biochemical variables are known to modulate the overall cholesterol efflux process. The aim of this study was to evaluate the extent to which clinical and biological anomalies associated with the establishment of the metabolic syndrome modulate cholesterol efflux capacity and contribute to development of atherosclerosis. This study involved patients (n=1202) displaying atherogenic dyslipidemia in primary prevention who were referred to our prevention center. Among these patients, 25% presented at least 3 criteria of the metabolic syndrome, as defined by the National Cholesterol Education Program Adult Treatment Panel III. We measured the capacity of 40-fold diluted serum to mediate cholesterol efflux from cholesterol-loaded human THP-1 macrophages. Cholesterol efflux capacity was reduced progressively by 4% to 11% (Pmetabolic syndrome from 1 to 5. This observation was primarily related to reductions in scavenger receptor class B member 1 and ATP binding cassette subfamily G member 1-dependent efflux. Multivariate analyses indicate that serum efflux capacity was significantly associated with established metabolic syndrome (odds ratio 0.45; 95% CI 0.28-0.72; P=0.009) independent of age, low-density lipoprotein cholesterol, status with regard to lipid-lowering therapy, smoking status, and alcohol consumption. Our study revealed that individual criteria of metabolic syndrome are closely related synergistically to cholesterol efflux capacity. In addition, established metabolic syndrome and cholesterol efflux capacity were independently associated with clinical features of atherosclerosis. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  10. Clinical Aspects of Type 3 Long-QT Syndrome

    DEFF Research Database (Denmark)

    Wilde, Arthur A M; Moss, Arthur J; Kaufman, Elizabeth S

    2016-01-01

    the independent contribution of clinical, genetic, and therapeutic factors to the first occurrence of time-dependent cardiac events (CE) from age 1 to 41 years. RESULTS: -118 (30%) patients (41 males) experienced at least one CE (syncope, aborted cardiac arrest [ACA] or LQTS-related sudden death [SD]), and 20...

  11. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli [Dept. of Radiology, Sakarya University Medical Faculty, Sakarya (Turkmenistan)

    2014-08-15

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

  12. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...... without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed....

  13. Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

    Science.gov (United States)

    Mohammad, Shekeeb S; Coman, David; Calvert, Sophie

    2014-12-01

    Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  14. Positron emission tomography in the Rett syndrome; Clinical, biochemical and pathologicl correlates

    Energy Technology Data Exchange (ETDEWEB)

    Naidu, S. (Kennedy Institute, Baltimore, MD (United States)); Wong, D.F.; Kitt, C.; Wenk, G.; Moser, H.W.

    1992-05-01

    A consistent constellation of clinical signs and symptoms define the Rett syndrome, the most prominent of which are disorders of movement and tone. Preliminary pathologic and neurochemical data indicate predominant involvement of the nigrostriatal dopaminergic pathways and the cholinergic system of the basal forebrain region. The age of onset differentiates the Rett syndrome from Alzheimer and Parkinson disease with similar lesions. PET scanning makes it possible to relate the chemistry of the brain to function by measuring the number and affinity of neuroreceptors, metabolism in specific brain regions, and provide important determinants of the underlying mechanisms in disease states. (author).

  15. Prosthodontic treatment and medical considerations for a patient with Turner syndrome: a clinical report.

    Science.gov (United States)

    Nguyen, Caroline T; Hofstede, Theresa M

    2012-10-01

    This clinical report describes a multidisciplinary approach in the rehabilitation of a 23-year-old Caucasian woman affected with Turner's syndrome and subsequently diagnosed with T4 Giant cell reparative granuloma of the right maxillary sinus. The surgical treatment included a maxillectomy and infratemporal fossa dissection followed by a free fibula palatal reconstruction, fibula bone graft of the orbital floor, dental implant placement, and prosthodontic rehabilitation. Prosthodontic planning and treatment considerations in an adult patient with Turner Syndrome are discussed. © 2012 by the American College of Prosthodontists.

  16. Prader-Willi Syndrome: A spectrum of anatomical and clinical features.

    Science.gov (United States)

    Hurren, Bradley J; Flack, Natasha A M S

    2016-07-01

    Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  17. Clinical Profiles, Occurrence, and Management of Adolescent Patients with HAIR-AN Syndrome

    Directory of Open Access Journals (Sweden)

    Hatim A. Omar

    2004-01-01

    Full Text Available The syndrome of hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN is a subphenotype of the polycystic ovary syndrome. It is one of the most common causes of menstrual problems, hyperandrogenic symptoms, and insulin resistance among young women. Review of clinical data in an outpatient adolescent clinic showed that of the 1,002 young women (ages 10—21 years attending the clinic over a 2-year period, 50 (5% were diagnosed with HAIR-AN syndrome. Mean age of the patients was 15.5, initial mean weight at diagnosis was 94.5 kg, and the mean BMI was 33.33 kg/m2. Patients were treated with a weight-stabilization and -reduction program, oral contraceptive pills, and in most cases metformin. Of the patients, 80% were compliant with the follow-up and treatment regimen, 60% maintained or reduced their weight, 95% had regular menstrual cycles, and in most patients, the acne and/or hirsutism were the same or better than at the start of treatment. We conclude that HAIR-AN syndrome is a common disease in young women and multifaceted, aggressive treatment appears to be effective in reducing the severity of symptoms and preventing further consequences.

  18. Associated syndromes and other genetic variations at a South African cleft lip and palate clinic

    Directory of Open Access Journals (Sweden)

    H.J.S. van den Berg

    2009-09-01

    Full Text Available A retrospective study was done of data on all patients registered at one of the largest cleft lip and palate clinics in South Africa (n = 3174. The associated syndromes and other genetic variations [(abbreviation: ASGV] found in the population of persons suffering from facial cleft deformities (FCD were analysed. 832 (26.2% cleft lip and/ or palate patients presented with ASGV. Fifty-seven different types of syndromes were recorded of which the Fairbaim-Robin appearance (FRA (or Pierre Robin sequence 169 (5.3%, the Demarque-van der Woude syndrome 40 (1.3%, and the holoprosencephaly sequence cases 32 (1.0% were the three most common ones. The three most common genetic variations found in the non-syndromic patients, were heart involvement 53(1.7%, club foot 42 (1.3% and various eye problems 39 (1.2%. The main facial cleft deformity, namely the cleft lip, alveolus and palate (CLAP, was found in 26.2% of the ASGV-group. This particular cleft deformity was recorded at 39.7% in the FCD clinic. On the other hand, the hard and soft palate cleft (hPsP group was found in 32.9% of patients who also had ASGV; in the total group of patients registered at the clinic, it accounted for only 16.6%. This means that ASGV occur less commonly in the CLAP group of patients, than in the hPsP group of patients.

  19. From syncope to ICD: clinical paths of the Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Ivan Comelli

    2010-09-01

    Full Text Available This review summarizes the evidences in the literature on the management of the Brugada syndrome (BS, an arrhythmogenic disease caused by genetic channelopathies, predisposing to syncope and sudden cardiac death in young, apparently healthy, typically male subjects, in the third and fourth decade of their life. Sudden cardiac death (SCD is defined as natural death from cardiac causes, heralded by abrupt loss of consciousness within one hour of the onset of symptoms. It ranks among the main causes of death in the western world, with an incidence ranging from 0.36 and 1.28‰ inhabitants per year, equal to 300,000 cases a year in the USA. In the majority of the cases it is due to the onset of arrhythmia in subjects with structural cardiac diseases, especially ischemic heart disease. However, in a non-negligible percentage of the cases, about 5-10%, the SCD arises in relatively young individuals in whom cardiac anomalies cannot be detected using traditional diagnostic techniques. About 20% of these cases can be attributed to SB. In spite of the many efforts produced to identify an effective pharmacological treatment, to date the only aid to reduce the mortality rate in subjects with SB is an implantable cardio-defibrillator (ICD. Since this approach often entails complications, the efforts of the scientific community is now focused on the assessment of the arrhythmic risk. The identification of high-risk subjects is one of the chief objectives in the therapeutic decision-making process. ABSTRACT clinica e terapia emergency

  20. Video Game Vision Syndrome: A New Clinical Picture in Children?

    Science.gov (United States)

    Rechichi, Caterina; De Mojà, Gilda; Aragona, Pasquale

    2017-11-01

    To examine a possible relationship between exposure to video games/electronic screens and visual issues in children between 3 and 10 years of age. An observational, cross-sectional study of a population of children using video games was employed. All patients between 3 and 10 years of age were recruited at an outpatient unit accredited by the Italian Regional Health Service. Three hundred twenty children (159 boys and 161 girls; mean age = 6.9 ± 2 years) were observed. Ophthalmological examination included assessment of stereoscopic vision on Lang-Stereotests I and II (LANG-STEREOTEST AG, Küsnacht, Switzerland) and identification of the dominant eye using the Dolman method. Furthermore, a questionnaire was used to record asthenopic symptoms and daily exposure to video games and electronic screens. Two groups of children were examined according to the average amount of time spent playing video games daily: children who played video games for less than 30 minutes per day and not every day (control group) and children who played video games for 30 minutes or more every day (video game group). Both groups were then divided into two subgroups: children using other types of electronic screens (eg, televisions, computers, tablets, and smartphones) for less than 3 hours daily (low electronic use subgroup) and children using other types of electronic screens for 3 hours or more per day (high electronic use subgroup). Asthenopia (especially headache, eyelid tic, transient diplopia, and dizziness), absence of fine stereopsis, and refractive errors were statistically more frequent (mainly in the dominant eye) in children in the video game group. These symptoms were frequent and peculiar in the video game group and might be part of a video game vision syndrome that has not been defined yet. It is important to recognize these signs as possible functional disorders to avoid erroneous diagnostic and therapeutic interventions. [J Pediatr Ophthalmol Strabismus. 2017

  1. Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association

    Directory of Open Access Journals (Sweden)

    Subasree Ramakrishnan

    2012-01-01

    Full Text Available Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive weakness of proximal lower limbs. Examination revealed skeletal markers of Marfan syndrome in the form of increased arm span compared with height, Kyphoscoliois, moderate pectus excavatum, high arched palate and wrist sign. He also had mild neck flexor weakness and proximal lower limb weakness with areflexia. Pathologic findings revealed lipid-laden fine vacuoles in the muscle fibers. Possibility of carnitine deficiency myopathy was considered and the patient was started on carnitine and Co Q. The patient made remarkable clinical improvement over the next 2 months. This case is reported for rarity of the association of clinical markers of Marfan syndrome and lipid storage myopathy and sparse literature on lipid storage myopathy in the Indian context.

  2. Clinical case and short review of extreme short bowel syndrome: an update 21 years after

    Directory of Open Access Journals (Sweden)

    Pasquale Mansueto

    2016-03-01

    Full Text Available Short bowel syndrome refers to the malabsorptive state caused by loss of significant portions of the small intestine, whose clinical framework is characterized by malnutrition, diarrhea, dehydration, weight loss, and low-weight-related symptoms/signs. These clinical conditions seem to be related to the length of resection. Twenty-one years ago we reported the clinical case of an infant, who underwent a massive resection of the loops of the small intestine, of the cecum and of part of the ascending colon, due to intestinal malrotation with volvulus. The residual small intestine measured just 11 cm and consisted of the duodenum and a small part of jejunum, in the absence of the ileocecal valve, configuring the case of a ultra-short bowel syndrome. In this report, we update the case, reporting the patient succeeded to obtain a good weight gain and to conduct a quite normal lifestyle, despite the long-term consequences of such resection.

  3. Scapular-focused treatment in patients with shoulder impingement syndrome: a randomized clinical trial.

    Science.gov (United States)

    Struyf, F; Nijs, J; Mollekens, S; Jeurissen, I; Truijen, S; Mottram, S; Meeusen, R

    2013-01-01

    The purpose of this clinical trial is to compare the effectiveness of a scapular-focused treatment with a control therapy in patients with shoulder impingement syndrome. Therefore, a randomized clinical trial with a blinded assessor was used in 22 patients with shoulder impingement syndrome. The primary outcome measures included self-reported shoulder disability and pain. Next, patients were evaluated regarding scapular positioning and shoulder muscle strength. The scapular-focused treatment included stretching and scapular motor control training. The control therapy included stretching, muscle friction, and eccentric rotator cuff training. Main outcome measures were the shoulder disability questionnaire, diagnostic tests for shoulder impingement syndrome, clinical tests for scapular positioning, shoulder pain (visual analog scale; VAS), and muscle strength. A large clinically important treatment effect in favor of scapular motor control training was found in self-reported disability (Cohen's d = 0.93, p = 0.025), and a moderate to large clinically important improvement in pain during the Neer test, Hawkins test, and empty can test (Cohen's d 0.76, 1.04, and 0.92, respectively). In addition, the experimental group demonstrated a moderate (Cohen's d = 0.67) improvement in self-experienced pain at rest (VAS), whereas the control group did not change. The effects were maintained at three months follow-up.

  4. Syndromic Panel-Based Testing in Clinical Microbiology.

    Science.gov (United States)

    Ramanan, Poornima; Bryson, Alexandra L; Binnicker, Matthew J; Pritt, Bobbi S; Patel, Robin

    2018-01-01

    The recent development of commercial panel-based molecular diagnostics for the rapid detection of pathogens in positive blood culture bottles, respiratory specimens, stool, and cerebrospinal fluid has resulted in a paradigm shift in clinical microbiology and clinical practice. This review focuses on U.S. Food and Drug Administration (FDA)-approved/cleared multiplex molecular panels with more than five targets designed to assist in the diagnosis of bloodstream, respiratory tract, gastrointestinal, or central nervous system infections. While these panel-based assays have the clear advantages of a rapid turnaround time and the detection of a large number of microorganisms and promise to improve health care, they present certain challenges, including cost and the definition of ideal test utilization strategies (i.e., optimal ordering) and test interpretation. Copyright © 2017 American Society for Microbiology.

  5. Surgical challenges and clinical outcomes of total hip replacement in patients with Down's syndrome.

    Science.gov (United States)

    Zywiel, M G; Mont, M A; Callaghan, J J; Clohisy, J C; Kosashvili, Y; Backstein, D; Gross, A E

    2013-11-01

    Down's syndrome is associated with a number of musculoskeletal abnormalities, some of which predispose patients to early symptomatic arthritis of the hip. The purpose of the present study was to review the general and hip-specific factors potentially compromising total hip replacement (THR) in patients with Down's syndrome, as well as to summarise both the surgical techniques that may anticipate the potential adverse impact of these factors and the clinical results reported to date. A search of the literature was performed, and the findings further informed by the authors' clinical experience, as well as that of the hip replacement in Down Syndrome study group. The general factors identified include a high incidence of ligamentous laxity, as well as associated muscle hypotonia and gait abnormalities. Hip-specific factors include: a high incidence of hip dysplasia, as well as a number of other acetabular, femoral and combined femoroacetabular anatomical variations. Four studies encompassing 42 hips, which reported the clinical outcomes of THR in patients with Down's syndrome, were identified. All patients were successfully treated with standard acetabular and femoral components. The use of supplementary acetabular screw fixation to enhance component stability was frequently reported. The use of constrained liners to treat intra-operative instability occurred in eight hips. Survival rates of between 81% and 100% at a mean follow-up of 105 months (6 to 292) are encouraging. Overall, while THR in patients with Down's syndrome does present some unique challenges, the overall clinical results are good, providing these patients with reliable pain relief and good function.

  6. Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.

    Science.gov (United States)

    Halder, Ashutosh; Jain, Manish; Chaudhary, Isha; Gupta, Neerja; Kabra, Madhulika

    2013-01-01

    Microdeletion syndromes are characterized by small (Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis of microdeletion syndromes. This study was conducted to assess the role of FISH in the diagnosis of suspected microdeletion syndrome. FISH was carried out on 301 clinically suspected microdeletion syndrome cases for the confirmation of clinical diagnosis using non-commercial probes. Of these, 177 cases were referred for 22q11.2 microdeletion, 42 cases were referred for William syndrome, 38 cases were referred for Prader Willi/Angelman and 44 cases were referred for other suspected microdeletion syndromes. FISH was confirmatory in 23 cases only (7.6%). There were 17 cases of 22q11.2 microdeletion, four cases of Prader Willi syndrome and two cases of William syndrome. We conclude that FISH should not be the method of choice for clinically suspected microdeletion syndromes. We propose to follow strict clinical criteria for FISH testing or preferably to follow better methods (genotype first approach). Whole genome screening may be used as first line of test and FISH may be used for confirmation of screening result, screening of family members and prenatal diagnosis.

  7. Frey’s syndrome - unusually long delayed clinical onset post-parotidectomy: a case report

    Directory of Open Access Journals (Sweden)

    Inchien Chamisa

    2010-04-01

    Full Text Available Frey’s syndrome is a complication of parotidectomy that is thought to occur as a result of aberrant regeneration of the postganglionic parasympathetic nerve fibres supplying the parotid gland to severed postganglionic sympathetic fibres which innervate the sweat glands of the face. Frey’s syndrome is difficult to treat but is a preventable phenomenon and surgeons must be aware of the available preventative methods during the initial surgery. An unusual case is presented involving a patient with delayed onset of Frey’s syndrome 40 years after parotidectomy in childhood. The potential for this long-delayed clinical presentation should be discussed with the patient before surgery in the parotid gland. Diagnostic methods, preventive measures and management options are briefly discussed.

  8. Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome.

    Science.gov (United States)

    Sztriha, László; Guerrini, Renzo; Harding, Brian; Stewart, Fiona; Chelloug, Nora; Johansen, Johan G

    2004-06-15

    Polymicrogyria is a brain malformation due to abnormal cortical organization. Two histological types, unlayered or four-layered can be distinguished. Polymicrogyria is a rare manifestation of chromosome 22q11 deletion syndrome. We report two boys with chromosome 22q11 deletion syndrome and polymicrogyria, and describe the neuropathological features of the malformation in one of them. Clinical examinations, EEG, brain MRI, chromosomal analysis with FISH, and neuropathological studies of surgically resected cortical tissue were performed. Both patients showed severe developmental delay with cardiovascular malformations and one of them had drug resistant epilepsy. Polymicrogyria was found in the frontal, parietal, and temporal areas, unilaterally in one patient and bilaterally in the other. Histology revealed four-layered polymicrogyria. The pathogenesis of polymicrogyria in 22q11 deletion syndrome is discussed. Copyright 2004 Wiley-Liss, Inc.

  9. [Clinical Characteristics and Gene Mutations of Gilbert Syndrome Complicated with Myeloproliferative Neoplasm].

    Science.gov (United States)

    Li, Xing-Xin; Shi, Jun; Huang, Zhen-Dong; Shao, Ying-Qi; Nie, Neng; Zhang, Jing; Ge, Mei-Li; Huang, Jin-Bo; Zheng, Yi-Zhou

    2017-04-01

    To investigate the clinical characteristics and gene mutations of patients with Gilbert syndrome complicated with myeloproliferative neoplasms (MPN). Peripheral blood samples from 1 patient with Gilbert syndrome complicated with MPN and his son were collected to analyse all exon mutations of UGT1A1 gene. The patient with leukocytosis, thrombocythemia, mild anemia and positive JAK2/V617F mutation was initially diagnosed as MPN. The hyperbilirubinemia suggested concurrent disease. Further gene evaluation disclosed a insertion mutation in the (TA)6TAA box, and a missense mutation(G→A) at 211 bp of exon 1, corresponding to the deficiency in the bilirubin-conjugating enzyme uridine-diphosphoglucuronosyl transferase1A1 (UGT1A1). His son only carried some polymorphism mutation without manifestation of this disease. It is a first report case of MPN complicated with Gilbert syndrome that can highlight the differential diagnosis for hyperbilirubinemia.

  10. 46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.

    Science.gov (United States)

    Benini, D; Vino, L; Vecchini, S; Fanos, V

    1999-12-01

    A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previously reported cases include pre- and post-natal growth delay, microcephaly, craniofacial dysmorphism and mental retardation. In addition, minor abnormalities not previously reported were observed, such as snapping thumbs, dorsiflected big toes, connecting anterior and posterior fontanelles at birth, nasolacrimal duct stenosis and double urethral meatus. Conclusion These five new clinical findings may help in further delineation of the syndrome and allow its early recognition. A complete revision of clinical findings published in literature is reported.

  11. Approach to Clinical Syndrome of Jaundice and Encephalopathy in Tropics

    Science.gov (United States)

    Anand, Anil C.; Garg, Hitendra K.

    2015-01-01

    A large number of patients present with jaundice and encephalopathy in tropical country like India and acute liver failure is the usual cause. Clinical presentation like ALF is also a complication of many tropical infections, and these conditions may mimic ALF but may have subtle differences from ALF. Moreover, what hepatologists see as acute liver failure in tropics is different from what is commonly described in Western Textbooks. Paracetamol overdose, which is possibly the commonest cause of ALF in UK and USA, is hardly ever seen in India. Most common etiology here is viral hepatitis (hepatitis E > hepatitis B> hepatitis A). Apart from ALF, one may also come across subacute hepatic failure (SAHF) as well as acute-on-chronic liver failure (ACLF) due to viral hepatitis. Interestingly, a host of other conditions can mimic ALF because clinical presentation in these conditions can be dominated by jaundice and encephalopathy. Malarial hepatopathy is possibly the best-known condition out of these and is not an uncommon manifestation of severe malaria. A similar presentation can also be seen in other common infections in tropics such as dengue fever, typhoid fever, leptospirosis, scrub typhus, amoebic liver abscesses, tuberculosis and other bacterial and fungal infections with or without human immunodeficiency virus (HIV) related disease. In many of these conditions, liver failure may not be underlying pathophysiology. Some pregnancy related liver diseases could also present with jaundice and encephalopathy. This review summarizes the commonly seen presentations in tropical country like India, where jaundice and encephalopathy dominate the clinical picture. PMID:26041951

  12. Diagnostic Approaches to Sjögren’s Syndrome: a Literature Review and Own Clinical Experience

    Directory of Open Access Journals (Sweden)

    Pedro de Sousa Gomes

    2012-03-01

    Full Text Available Objectives: The purpose of present paper is to critically address the recent advances on diagnostic procedures of Sjögren’s syndrome, taking into account the attained local and systemic features of the disease. Material and Methods: A comprehensive review of the available literature regarding to the diagnostic approaches to Sjögren’s syndrome was conducted. Eligible studies were identified by searching the electronic literature PubMed, Medline, Embase, and ScienceDirect databases for relevant reports (last search update January 2012 combining the MESH heading term “Sjögren’s syndrome”, with the words "diagnosis, diagnostic procedures, salivary gland function, ocular tests, histopathology, salivary gland imaging, serology". The authors checked the references of the selected articles to identify additional eligible publications and contacted the authors, if necessary. Results: Presented article addresses the established diagnostic criteria for Sjögren’s syndrome and critically evaluates the most commonly used diagnostic procedures, presenting data from author’s own clinical experience. Diagnostic criteria for Sjögren’s syndrome are required both by healthcare professionals and patients, namely in order to provide a rational basis for the assessment of the symptoms, establish an individual disease prognosis, and orientate the therapeutic intervention. Conclusions: Sjögren’s syndrome is quite a common autoimmune disease of which the diagnosis and treatment are not easily established. Due to its systemic involvement, it can exhibit a wide range of clinical manifestations that contribute to confusion and delay in diagnosis. The use of proper diagnostic modalities will help to reduce the time to diagnosis and preserve the health and quality of life of patients with Sjögren’s syndrome.

  13. Horner Syndrome in Children: A Clinical Condition with Serious Underlying Disease.

    Science.gov (United States)

    Barrea, Christophe; Vigouroux, Tiphaine; Karam, Joe; Milet, Ariane; Vaessen, Sandrine; Misson, Jean-Paul

    2016-08-01

    Aim Horner syndrome corresponds to the clinical triad of miosis, ptosis, and facial anhidrosis. These symptoms are related to injury of the oculosympathetic chain. In children, Horner syndrome is classified as congenital or acquired. While the diagnosis is made through clinical examination, there is some debate regarding the use of imaging modalities and the extent of anatomical coverage required. Methods Here, we describe two cases of children with acute Horner syndrome. We then review the literature about the different etiology and discuss the interest of some investigations. Results Case 1: An 8-month-old girl without personal or familial history, has presented a right acquired Horner syndrome without additional signs. Frontal chest radiography and ultrasonography of the neck and the abdomen was first achieved and returned normal. The cerebral and cervical magnetic resonance imaging (MRI) with angiographic sequences performed in a second time was also normal. Finally, an enhanced thoracic computed tomography (CT)-scan demonstrated a mass at the right pulmonary apex. Case 2: A 9-year-old boy without personal or familial history has presented an acute headache with loss of consciousness during a basketball competition. Upon waking up, the child has right hemiplegia, aphasia, and left Horner syndrome. The cerebral CT scan realized in the first line was normal. The MRI with angiographic sequences demonstrated M1 left carotid dissection with homolateral white matter infarction. Conclusion Imaging studies seem critical in delineating the nature and extent of any underlying pathology along the oculosympathetic pathway in children presenting a Horner syndrome. In these patients, a history of trauma or surgery may reduce the need for extensive systemic evaluation. Without such anamnesis, a decision to proceed with further evaluation is made with consideration of the relative incidence of tumor, especially neuroblastoma, or other treatable lesions. In this

  14. Making sense of missense in Lynch syndrome: the clinical perspective.

    Science.gov (United States)

    Lynch, Henry T; Jascur, Thomas; Lanspa, Stephen; Boland, C Richard

    2010-11-01

    The DNA mismatch repair (MMR) system provides critical genetic housekeeping, and its failure is associated with tumorigenesis. Through distinct domains on the DNA MMR proteins, the system recognizes and repairs errors occurring during DNA synthesis, but signals apoptosis when the DNA damage cannot be repaired. Certain missense mutations in the MMR genes can selectively alter just one of these functions. This affects the clinical features of tumors associated with defective DNA MMR activity. New work reported by Xie et al. in this issue of the journal (beginning on page 1409) adds to the understanding of DNA MMR. ©2010 AACR.

  15. Nelson’s Syndrome: Questions and Answers (Clinical Case

    Directory of Open Access Journals (Sweden)

    Z.P. Nizhinska-Astapenko

    2016-05-01

    Full Text Available This clinical case reflects the variability in the course of chronic adrenal insufficiency after bilateral adrenalectomy for Itsenko — Cushing disease, the development and growth of pituitary adenoma, which can lead to hemorrhagic stroke in the most recurrent pituitary tumor. The objective of pathogenetic treatment is to reduce the secretion of adrenocorticotropic hormone secretion, to restore normal secretion of tropic pituitary hormones, as well as the prevention of further growth of pituitary tumor and adequate compensation of adrenal insufficiency. The case shows labile course of postoperative adrenal insufficiency and, consequently, different approaches to the diagnosis and the need for substitution therapy at different stages of the disease.

  16. MRI criteria for MS in patients with clinically isolated syndromes

    DEFF Research Database (Denmark)

    Montalban, X.; Tintore, M.; Swanton, J.

    2010-01-01

    In recent years, criteria for the diagnosis of multiple sclerosis (MS) have changed, mainly due to the incorporation of new MRI criteria. While the new criteria are a logical step forward, they are complex and-not surprisingly-a good working knowledge of them is not always evident among...... neurologists and neuroradiologists. In some circumstances, several MRI examinations are needed to achieve an accurate and prompt diagnosis. This provides an incentive for continued efforts to refine the incorporation of MRI-derived information into the diagnostic workup of patients presenting with a clinically...

  17. Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

    Science.gov (United States)

    Rapin, Isabelle; Weidenheim, Karen; Lindenbaum, Yelena; Rosenbaum, Pearl; Merchant, Saumil N; Krishna, Sindu; Dickson, Dennis W

    2006-11-01

    Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. This study compares the clinical course and pathology of a man with Cockayne syndrome group A who died at age 31(1/2) years with 15 adequately documented other adults with Cockayne syndrome and 5 with xeroderma pigmentosum-Cockayne syndrome complex. Slowing of head and somatic growth was apparent before age 2 years, mental retardation and slowly progressive spasticity at 4 years, ataxia and hearing loss at 9 years, visual impairment at 14 years, typical Cockayne facies at 17 years, and cachexia and dementia in his twenties, with a retained outgoing personality. He experienced several transient right and left hemipareses and two episodes of status epilepticus following falls. Neuropathology disclosed profound microencephaly, bilateral old subdural hematomas, white-matter atrophy, tigroid leukodystrophy with string vessels, oligodendrocyte proliferation, bizarre reactive astrocytes, multifocal dystrophic calcification that was most marked in the basal ganglia, advanced atherosclerosis, mixed demyelinating and axonal neuropathy, and neurogenic muscular atrophy. Cellular degeneration of the organ of Corti, spiral and vestibular ganglia, and all chambers of the eye was severe. Rarely, and for unexplained reasons, in some patients with Cockayne syndrome the course is slower than usual, resulting in survival into adulthood. The profound dwarfing, failure of brain growth, cachexia, selectivity of tissue degeneration, and poor correlation between genotypes and phenotypes are not understood. Deficient repair of DNA can increase vulnerability to oxidative stress and play a role in the

  18. Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

    Science.gov (United States)

    Rapin, Isabelle; Weidenheim, Karen; Lindenbaum, Yelena; Rosenbaum, Pearl; Merchant, Saumil N.; Krishna, Sindu; Dickson, Dennis W.

    2009-01-01

    Cockayne syndrome and xeroderma pigmentosum–Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. This study compares the clinical course and pathology of a man with Cockayne syndrome group A who died at age 31½ years with 15 adequately documented other adults with Cockayne syndrome and 5 with xeroderma pigmentosum–Cockayne syndrome complex. Slowing of head and somatic growth was apparent before age 2 years, mental retardation and slowly progressive spasticity at 4 years, ataxia and hearing loss at 9 years, visual impairment at 14 years, typical Cockayne facies at 17 years, and cachexia and dementia in his twenties, with a retained outgoing personality. He experienced several transient right and left hemipareses and two episodes of status epilepticus following falls. Neuropathology disclosed profound microencephaly, bilateral old subdural hematomas, white-matter atrophy, tigroid leukodystrophy with string vessels, oligodendrocyte proliferation, bizarre reactive astrocytes, multifocal dystrophic calcification that was most marked in the basal ganglia, advanced atherosclerosis, mixed demyelinating and axonal neuropathy, and neurogenic muscular atrophy. Cellular degeneration of the organ of Corti, spiral and vestibular ganglia, and all chambers of the eye was severe. Rarely, and for unexplained reasons, in some patients with Cockayne syndrome the course is slower than usual, resulting in survival into adulthood. The profound dwarfing, failure of brain growth, cachexia, selectivity of tissue degeneration, and poor correlation between genotypes and phenotypes are not understood. Deficient repair of DNA can increase vulnerability to oxidative stress and play a role in the

  19. Evaluation of clinical characteristics of Kawasaki syndrome and risk factors for coronary artery abnormalities among children in Denmark.

    Science.gov (United States)

    Patel, Amy; Holman, Robert C; Callinan, Laura S; Sreenivasan, Nandini; Schonberger, Lawrence B; Fischer, Thea K; Belay, Ermias D

    2013-04-01

    To examine clinical characteristics, treatment and outcome of Kawasaki syndrome patients in Denmark. A retrospective chart review of hospitalization records for children Kawasaki syndrome discharge diagnosis identified through the Danish National Patient Registry during 1994 through June 2008 was conducted. A total of 284 cases Kawasaki syndrome (n = 279) and atypical Kawasaki syndrome (n = 5); 70.4% were Kawasaki syndrome patients were diagnosed with coronary artery abnormalities. Not receiving intravenous immunoglobulin treatment before the 10th day of illness, young age and male sex were significantly associated with the development of coronary artery abnormalities. In Denmark, more than one in 10 children with Kawasaki syndrome develop coronary artery abnormalities. Physicians should increase their index of suspicion for early diagnosis and treatment of Kawasaki syndrome among patients susceptible to increased risk of coronary artery abnormalities, particularly in infants who may have a more atypical presentation of the illness. ©2012 The Author(s)/Acta Paediatrica ©2013 Foundation Acta Paediatrica.

  20. Clinical consequences and economic costs of untreated obstructive sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Melissa Knauert

    2015-09-01

    Full Text Available Objective: To provide an overview of the healthcare and societal consequences and costs of untreated obstructive sleep apnea syndrome. Data sources: PubMed database for English-language studies with no start date restrictions and with an end date of September 2014. Methods: A comprehensive literature review was performed to identify all studies that discussed the physiologic, clinical and societal consequences of obstructive sleep apnea syndrome as well as the costs associated with these consequences. There were 106 studies that formed the basis of this analysis. Conclusions: Undiagnosed and untreated obstructive sleep apnea syndrome can lead to abnormal physiology that can have serious implications including increased cardiovascular disease, stroke, metabolic disease, excessive daytime sleepiness, work-place errors, traffic accidents and death. These consequences result in significant economic burden. Both, the health and societal consequences and their costs can be decreased with identification and treatment of sleep apnea. Implications for practice: Treatment of obstructive sleep apnea syndrome, despite its consequences, is limited by lack of diagnosis, poor patient acceptance, lack of access to effective therapies, and lack of a variety of effective therapies. Newer modes of therapy that are effective, cost efficient and more accepted by patients need to be developed. Keywords: Obstructive sleep apnea syndrome, Cost, Continuous positive airway pressure, Mandibular advancement device

  1. Further validation of the visual analogue scale for irritable bowel syndrome after use in clinical practice.

    Science.gov (United States)

    Bengtsson, Mariette; Persson, Jesper; Sjölund, Kristina; Ohlsson, Bodil

    2013-01-01

    The Visual Analogue Scale for Irritable Bowel Syndrome (VAS-IBS), a self-rating questionnaire, was designed to measure symptoms and the effect of treatment in patients suffering from irritable bowel syndrome. The aim of this descriptive correlational study was to conduct further psychometric validation after the VAS-IBS had been used in clinical practice, translate it into English, and compare the results with controls. Forty-nine patients with irritable bowel syndrome (median age = 38 years old [range, 18-69 years]) were compared with 90 healthy persons (median age = 44 years old [range, 21-77 years]) who served as controls. The patients with irritable bowel syndrome completed 3 questionnaires: the VAS-IBS, the Gastrointestinal Symptom Rating Scale, and the Perception of Change of Symptoms. Controls completed only the VAS-IBS. Results showed that the VAS-IBS is a valid questionnaire that measures the degree of change of symptoms and discriminates between patients who have irritable bowel syndrome from those who do not. It is important to compare the VAS-IBS among different cultural populations so we suggest that the English version of the VAS-IBS should now be used in English-speaking countries and be further tested for validity and reliability with English-speaking patients.

  2. [CARDIORENAL SYNDROME: CLINICAL FEATURES, EARLY DIAGNOSIS AND TREATMENT AT FAMILY MEDICINE].

    Science.gov (United States)

    Marković, B Bergman

    2016-12-01

    The interdependent damage to the heart and kidney organ systems is defined as cardiorenal syndrome, a complex pathophysiological disorder of the heart and kidney in which acute or chronic dysfunction of one organ can lead to acute or chronic damage to the other. Identification and early diagnosis of some subtypes of cardiorenal syndrome very often begin at family physician office, however, the use of simple and reliable diagnostic procedures such as MICE score using ECG and biomarkers has not been implemented yet. The clinical picture, diagnosis and treatment vary according to the 5 cardiorenal syndrome subtypes, as described herein. Rational diagnosis of heart failure at family medicine office should include biomarkers (BNP and NT-pro BNP) before performing ultrasound of the heart, while for kidneys creatinine and estimated glomerular filtration rate are still in use, but not cysteine C and NGAL. Diagnostic procedure for suspected heart failure at family medicine office should include kidney function estimate and vice versa. Access to treatment of cardiorenal syndrome differs depending on the specialty to which the patient is referred first, i.e. consultant examination, cardiologist or nephrologist. A multidisciplinary approach to treatment of cardiorenal syndrome is still lacking.

  3. Chikungunya fever: epidemiology, clinical syndrome, pathogenesis and therapy.

    Science.gov (United States)

    Thiberville, Simon-Djamel; Moyen, Nanikaly; Dupuis-Maguiraga, Laurence; Nougairede, Antoine; Gould, Ernest A; Roques, Pierre; de Lamballerie, Xavier

    2013-09-01

    Chikungunya virus (CHIKV) is the aetiological agent of the mosquito-borne disease chikungunya fever, a debilitating arthritic disease that, during the past 7years, has caused immeasurable morbidity and some mortality in humans, including newborn babies, following its emergence and dispersal out of Africa to the Indian Ocean islands and Asia. Since the first reports of its existence in Africa in the 1950s, more than 1500 scientific publications on the different aspects of the disease and its causative agent have been produced. Analysis of these publications shows that, following a number of studies in the 1960s and 1970s, and in the absence of autochthonous cases in developed countries, the interest of the scientific community remained low. However, in 2005 chikungunya fever unexpectedly re-emerged in the form of devastating epidemics in and around the Indian Ocean. These outbreaks were associated with mutations in the viral genome that facilitated the replication of the virus in Aedes albopictus mosquitoes. Since then, nearly 1000 publications on chikungunya fever have been referenced in the PubMed database. This article provides a comprehensive review of chikungunya fever and CHIKV, including clinical data, epidemiological reports, therapeutic aspects and data relating to animal models for in vivo laboratory studies. It includes Supplementary Tables of all WHO outbreak bulletins, ProMED Mail alerts, viral sequences available on GenBank, and PubMed reports of clinical cases and seroprevalence studies. Copyright © 2013 Elsevier B.V. All rights reserved.

  4. Functional symptoms in clinically definite MS--pseudo-relapse syndrome.

    LENUS (Irish Health Repository)

    Merwick, A

    2012-02-03

    Although the diagnostic criteria for multiple sclerosis (MS) have become more formalized and sensitive in the era of magnetic resonance imaging (MRI) scanning, the assessment of individual relapses may not always be straightforward or easily linked to a particular lesion seen on imaging. In addition, acute episodes often have to be assessed outside of normal working hours or when the individual patients usual medical team is not available. Often the emergency department physicians have little formal neurological training and are under time pressure to get patients through the system as quickly as possible. It is therefore possible to mislabel functional symptoms as being true relapses. To illustrate scenarios of possible pseudo-relapse, three clinical vignettes are described. Misclassification of functional symptoms as relapse carries a number of inherent risks. Functional symptoms can be multifactorial and may cause a burden of disease. A multidisciplinary approach may be useful in minimizing unnecessary harm and identify if there is more than meets the eye to an episode of clinical deterioration.

  5. Foot orthoses and physiotherapy in the treatment of patellofemoral pain syndrome: A randomised clinical trial

    Directory of Open Access Journals (Sweden)

    Darnell Ross

    2008-02-01

    Full Text Available Abstract Background Patellofemoral pain syndrome is a highly prevalent musculoskeletal overuse condition that has a significant impact on participation in daily and physical activities. A recent systematic review highlighted the lack of high quality evidence from randomised controlled trials for the conservative management of patellofemoral pain syndrome. Although foot orthoses are a commonly used intervention for patellofemoral pain syndrome, only two pilot studies with short term follow up have been conducted into their clinical efficacy. Methods/design A randomised single-blinded clinical trial will be conducted to investigate the clinical efficacy and cost effectiveness of foot orthoses in the management of patellofemoral pain syndrome. One hundred and seventy-six participants aged 18–40 with anterior or retropatellar knee pain of non-traumatic origin and at least six weeks duration will be recruited from the greater Brisbane area in Queensland, Australia through print, radio and television advertising. Suitable participants will be randomly allocated to receive either foot orthoses, flat insoles, physiotherapy or a combined intervention of foot orthoses and physiotherapy, and will attend six visits with a physiotherapist over a 6 week period. Outcome will be measured at 6, 12 and 52 weeks using primary outcome measures of usual and worst pain visual analogue scale, patient perceived treatment effect, perceived global effect, the Functional Index Questionnaire, and the Anterior Knee Pain Scale. Secondary outcome measures will include the Lower Extremity Functional Scale, McGill Pain Questionnaire, 36-Item Short-Form Health Survey, Hospital Anxiety and Depression Scale, Patient-Specific Functional Scale, Physical Activity Level in the Previous Week, pressure pain threshold and physical measures of step and squat tests. Cost-effectiveness analysis will be based on treatment effectiveness against resource usage recorded in treatment logs and

  6. Foot orthoses and physiotherapy in the treatment of patellofemoral pain syndrome: A randomised clinical trial

    Science.gov (United States)

    Vicenzino, Bill; Collins, Natalie; Crossley, Kay; Beller, Elaine; Darnell, Ross; McPoil, Thomas

    2008-01-01

    Background Patellofemoral pain syndrome is a highly prevalent musculoskeletal overuse condition that has a significant impact on participation in daily and physical activities. A recent systematic review highlighted the lack of high quality evidence from randomised controlled trials for the conservative management of patellofemoral pain syndrome. Although foot orthoses are a commonly used intervention for patellofemoral pain syndrome, only two pilot studies with short term follow up have been conducted into their clinical efficacy. Methods/design A randomised single-blinded clinical trial will be conducted to investigate the clinical efficacy and cost effectiveness of foot orthoses in the management of patellofemoral pain syndrome. One hundred and seventy-six participants aged 18–40 with anterior or retropatellar knee pain of non-traumatic origin and at least six weeks duration will be recruited from the greater Brisbane area in Queensland, Australia through print, radio and television advertising. Suitable participants will be randomly allocated to receive either foot orthoses, flat insoles, physiotherapy or a combined intervention of foot orthoses and physiotherapy, and will attend six visits with a physiotherapist over a 6 week period. Outcome will be measured at 6, 12 and 52 weeks using primary outcome measures of usual and worst pain visual analogue scale, patient perceived treatment effect, perceived global effect, the Functional Index Questionnaire, and the Anterior Knee Pain Scale. Secondary outcome measures will include the Lower Extremity Functional Scale, McGill Pain Questionnaire, 36-Item Short-Form Health Survey, Hospital Anxiety and Depression Scale, Patient-Specific Functional Scale, Physical Activity Level in the Previous Week, pressure pain threshold and physical measures of step and squat tests. Cost-effectiveness analysis will be based on treatment effectiveness against resource usage recorded in treatment logs and self-reported diaries

  7. Clinical variants of Guillain-Barre syndrome: some aspects of differential diagnosis.

    Science.gov (United States)

    Dididze, M N

    2009-01-01

    Acute Inflammatory Demyelinating Polyneuropathy--Guillain-Barre syndrome (GBS) affects spinal roots, peripheral and cranial nerves. Various clinical variants of GBS have been described. Isolated cranial nerve involvement without prominent signs of GBS is considered as rare variant of this disease. The aim of the study was to identify clinical characteristics of various forms of GBS particularly in rare variants of the disease. 57 patients with GBS were evaluated based on clinical and electrophysiological data. The following forms of GBS were revealed: 27 had acute inflammatory demyelinating polyradiculoneuropathy, 9--acute motor axonal neuropathy, 12--acute motor and sensory axonal neuropathy, 5--Fisher syndrome and 3--facial diplegia (rare clinical variant). 50 patients were graded 3 or more according to Hughes functional grading scale. Seasonal preponderance was found in spring (March-May) and autumn (September-November). 23 patients received IVIG and 34 were treated by plasma exchange within two weeks after onset. Follow up study revealed: 46 recovered satisfactory, 8 were persistently disabled, 3 died during admission to hospital. Guillain-Barre syndrome showed seasonal distribution and high frequency of axonal forms. Intravenous immunoglobulin therapy was more effective than plasma exchange. Poor outcomes were likely due to severe condition (required mechanical ventilation) and axonal forms. It is crucial to timely identify rare variants of GBS which recover with appropriate treatment.

  8. Systematization of clinical trials related to treatment of metabolic syndrome, 1980-2015.

    Science.gov (United States)

    Cardona Velásquez, Santiago; Guzmán Vivares, Laura; Cardona-Arias, Jaiberth Antonio

    2017-02-01

    Despite the clinical, epidemiological, and economic significance of metabolic syndrome, the profile of clinical trials on this disease is unknown. To characterize the clinical trials related to treatment of metabolic syndrome during the 1980-2015 period. Systematic review of the literature using an ex ante search protocol which followed the phases of the guide Preferred Reporting Items for Systematic Reviews and Meta-Analyses in four multidisciplinary databases with seven search strategies. Reproducibility and methodological quality of the studies were assessed. One hundred and six trials were included, most from the United States, Italy, and Spain, of which 63.2% evaluated interventions effective for several components of the syndrome such as diet (40.6%) or physical activity (22.6%). Other studies assessed drugs for a single factor such as hypertension (7.5%), hypertriglyceridemia (11.3%), or hyperglycemia (9.4%). Placebo was used as control in 54.7% of trials, and outcome measures included triglycerides (52.8%), HDL (48.1%), glucose (29.2%), BMI (33.0%), blood pressure (27.4%), waist circumference (26.4%), glycated hemoglobin (11.3%), and hip circumference (7.5%). It was shown that studies ob efficacy of treatment for metabolic syndrome are scarce and have mainly been conducted in the last five years and in high-income countries. Trials on interventions that affect three or more factors and assess several outcome measures are few, and lifestyle interventions (diet and physical activity) are highlighted as most important to impact on this multifactorial syndrome. Copyright © 2017 SEEN. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

    Science.gov (United States)

    Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim

    2018-01-04

    Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the "epigenetic machinery"). The mechanistic cross-talk between histone modification and DNA methylation suggests that these syndromes might be expected to display specific DNA methylation signatures that are a reflection of those primary errors associated with chromatin dysregulation. Given the interrelated functions of these chromatin regulatory proteins, we sought to identify DNA methylation epi-signatures that could provide syndrome-specific biomarkers to complement standard clinical diagnostics. In the present study, we examined peripheral blood samples from a large cohort of individuals encompassing 14 Mendelian disorders displaying mutations in the genes encoding proteins of the epigenetic machinery. We demonstrated that specific but partially overlapping DNA methylation signatures are associated with many of these conditions. The degree of overlap among these epi-signatures is minimal, further suggesting that, consistent with the initial event, the downstream changes are unique to every syndrome. In addition, by combining these epi-signatures, we have demonstrated that a machine learning tool can be built to concurrently screen for multiple syndromes with high sensitivity and specificity, and we highlight the utility of this tool in solving ambiguous case subjects presenting with variants of unknown significance, along with its ability to generate accurate predictions for subjects presenting with the overlapping clinical and molecular features associated with the disruption of the epigenetic machinery. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. Between a rock and a hard place: clinical and imaging features of vascular compression syndromes.

    Science.gov (United States)

    Eliahou, Ruth; Sosna, Jacob; Bloom, Allan I

    2012-01-01

    Vascular compression syndromes are caused by the entrapment of vessels between rigid or semirigid surfaces in a confined anatomic space. Chronic entrapment may lead to arterial ischemia and embolism, venous stasis and thrombosis, and hematuria. These syndromes are usually seen in otherwise healthy young patients, among whom underdiagnosis is common. Most occurrences of vascular compression are associated with an underlying anatomic abnormality. In a small percentage of cases, other contributing factors, including repetitive microtrauma, may cause pathologic changes leading to the onset of pain and other symptoms of vascular and neural compression. Hence, the diagnosis must be based on both clinical and radiologic findings. Because some cases of vascular entrapment become symptomatic only when specific physical maneuvers are performed, dynamic diagnostic imaging methods are especially useful. Digital subtraction angiography has been the mainstay of imaging-based diagnosis for most vascular compression syndromes, but other methods (eg, color Doppler ultrasonography, computed tomographic angiography, and magnetic resonance angiography) are used with increasing frequency for initial diagnostic evaluation. Because vascular compression syndromes are caused by the external compression of vessels, endoluminal treatment alone is rarely adequate and surgical decompression is likely to be required for optimal and durable clinical benefit. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.321115011/-/DC1.

  11. Diagnosing and management of iatrogenic moderate and severe ovarian hyperstymulation syndrome (OHSS in clinical material.

    Directory of Open Access Journals (Sweden)

    Anna Fritz

    2008-04-01

    Full Text Available Severe ovarian hyperstymulation syndrome is a rare but potentially life-threatening complication in patients undergoing assisted reproductive techniques (ART. The pathogenesis of this condition is likely to be multifactorial. The aim of the retrospective study was to present management in moderate and severe iatrogenic ovarian hyperstymulation syndrome (OHSS in clinical material. The study group was 19 women, admitted to the Department of Obstetrics and Gynecology in Central Clinical Hospital of Ministry of Interior and Administration in Warsaw from large outpatient infertility center "Novum" in Warsaw with moderate and severe OHSS between 14.07.2004 and 8.11.2005. Laboratory tests and ultrasound examination of the ovarian size and ascites were performed, abdominal circumference was measured. Patients were treated with rehydration with intravenous crystalloids and colloids, diuretics, antibiotics, anticoagulants and ultrasound-guided paracentesis if symptoms of ascites become severe (ascites causes pain and compromised pulmonary function. Oral intake of water was restricted, monitoring of fluid intake and output, and daily monitoring of body weight was performed. During treatment controlled laboratory tests were done. In one patient occurred intra-abdominal hemorrhage from ovarian rupture and laparotomy with oophorectomy was performed. The ovarian hyperstimulation syndrome is still a difficult diagnostic and therapeutic problem and more studies are required to elucidate pathophysiology of OHSS. Because of still unknown etiology treatment is empirical and in most of cases bases on experience of medical team. Thus, the management in individual patients varies according to the severity of ovarian hyperstymulation syndrome and its complications.

  12. Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.

    Science.gov (United States)

    Li, Caifeng; Zhang, Junmei; Li, Shipeng; Han, Tongxin; Kuang, Weiying; Zhou, Yifang; Deng, Jianghong; Tan, Xiaohua

    2017-07-01

    The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis. Cardiac involvement was also found in Blau syndrome. In addition to nerve deafness, renal involvement, osteochondroma and central nervous system involvement were also found in our patients. Therefore, Chinese children with Blau syndrome have unique gene mutations and complicated clinical phenotypes. Pathologic examination and CARD15 mutation testing should be considered for diagnosis as early as possible for suspected patients.

  13. Neurodegenerative 'overlap' syndrome: Clinical and pathological features of Parkinson's disease, motor neuron disease, and Alzheimer's disease.

    Science.gov (United States)

    Uitti, R J; Berry, K; Yasuhara, O; Eisen, A; Feldman, H; McGeer, P L; Calne, D B

    1995-07-01

    Parkinson's disease (PD), Alzheimer's disease (AD), and motor neuron disease (MND) share epidemiological, clinical, and pathological features. Few studies have reported comprehensively on individuals who demonstrate a neurodegenerative 'overlap' syndrome, comprising idiopathic parkinsonism, dementia, and motor neuron dysfunction. We describe clinical, electrophysiological, and pathological features in six patients with neurodegenerative 'overlap' syndrome. All had cardinal features of PD (duration 6-26 years), and any mixture of dementia (slowly advancing), fasciculations, hyperreflexia, Babinski signs and mild atrophy and weakness of distal muscles (slowly progressive). EMG often demonstrated a lack of denervation in conjunction with abnormal MEPs (high thresholds). Patients had either 6FD-PET or pathological studies consistent with PD. Pathological studies also demonstrated moderate numbers of neurofibrillary tangles and plaque formation, typically with sparing of motor neurons in the spinal cord. We conclude that neurodegenerative 'overlap' syndrome may represent forme frustes of traditionally accepted diagnostic categories. Patients with parkinsonism, fasciculations, hyperreflexia and mild atrophy are unlikely to demonstrate active denervation on EMG; their prognosis is better than for classical MND. Neurodegenerative overlap syndrome (clinicopathological mixtures of PD, AD, and MND) may develop in some individuals as a reflection of common etiology, pathogenesis or susceptibility.

  14. Clinical Implications of Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA Syndrome in the Prepubertal Age Group.

    Directory of Open Access Journals (Sweden)

    Jang Hee Han

    Full Text Available Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA syndrome is a rare syndrome characterized by Müllerian duct and renal anomalies. It is usually regarded as a disease of adolescence; however, due to a number of possible problems, the management of patients before puberty should not be overlooked. We assessed the clinical course of prepubertal patients to propose appropriate management.We retrospectively assessed 43 prepubertal OHVIRA syndrome patients who were diagnosed and followed up at our institution from July 2004 to June 2015. We reviewed medical records, focusing on presentation, radiologic findings, surgical management, and the overall clinical course.Median age at diagnosis was 1.3 months and median follow-up period was 25.5 months. The most common accompanying ipsilateral urologic anomalies were ectopic ureter and ureterocele, while the most common contralateral anomaly was vesicoureteral reflux. During the follow-up period, six patients (14.0% required surgery at a median age of 31.2 months due to recurrent urinary tract infection, uncontrolled vaginal distention compressing adjacent organs, urinary incontinence, or intractable abdominal pain.While OHVIRA syndrome is known as a postpubertal disease, about 13% of prepubertal patients in our study required surgery. When ectopic ureter insertion into the vagina is present, further treatment may be needed to address the complications caused by continuous urine production. Patients should be monitored for complications arising from either obstructed hemivagina or renal anomalies with regular follow-up, especially before the age of five years.

  15. Hereditary multiple exostoses: from genetics to clinical syndrome and complications

    Energy Technology Data Exchange (ETDEWEB)

    Vanhoenacker, Filip M.; Hul, Wim van; Wuyts, Wim; Willems, P.J.; Schepper, Arthur M. de

    2001-12-01

    Objective: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). Methods and material: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. Results and conclusions: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses.

  16. Influence of infection on clinical picture of diabetic foot syndrome.

    Science.gov (United States)

    Strbova, L; Krahulec, B; Waczulikova, I; Gaspar, L; Ambrozy, E; Bendzala, M; Dukat, A

    2011-01-01

    The aim of our study was to analyse the foot infections in diabetic patients. We analysed foot ulcerations in 124 diabetics who attended outpatient foot clinic, or were hospitalized in the period from 1996 to 2006. Basic neuropathy screening examination was made with cotton wisp, pin-prick, tuning fork, and monofilament. For evaluation of leg ischemia, besides the evaluation of the presence of pedal pulses, the ankle-brachial pressure index was measured. If the infection of foot ulceration was clinically present, bacteriology examinations was performed. In the case of deep wound infection, x-ray examination was made. If bone destruction was present, osteomyelitis was diagnosed by technecium bone scanning and by technecium-labelled leukocyte scan. Deformation and destruction of the bone without infection was appoited as Charcot neuroarthropathy. Foot ulcer infection was found in 58 % diabetic patients, wounds were more often deep (80 %). Infection was not associated with special location of foot ulcer. Two-third of the total infected wounds were associated with leg ischemia and 30.6 % of infected ulcer ended with leg amputation. More foot ulcer infections were found in the diabetics with HbAlc over 8 %. Infection was coupled with diabetic retinopathy (in 63 % patients) (p=0.023), and also with diabetic nephropathy (in 66 % patients) (p=0.012). Bacteriology examination revealed most often Staphylococci (45.8 %), antibiotic therapy was made most often with chinolones. Osteomyelitis was present in 34.7 % of foot ulcer infections. In 14 diabetics (56 %) after antibiotic therapy it was not necessary to perform a leg amputation. HbAlc seems to be a significant predictor of osteomyelitis (pdiabetic foot infections, especially on ischemic leg, in diabetics with poor metabolic control and chronic diabetic microvascular complications, are associated with a higher risk of leg amputations. Further, it is possible to cure osteomyelitis successfully without surgery in more than

  17. Asperger syndrome and schizophrenia: Νeurodevelopmental continuum or separated clinical entities?

    Science.gov (United States)

    Anomitri, Chr; Lazaratou, H

    2017-01-01

    This article is an overview of the literature on Asperger's syndrome and schizophrenia and aim to discuss their similarities and differences. Eugen Bleuler who associated the terms "schizophrenia" and "autism" a century ago, viewed autism as a form of solitude of schizophrenic patients representing withdrawal from reality. Ever since, there has been confusion as to the boundaries between these conditions. Nowadays recent research, from a variety of perspectives-genomics, neurodevelopment, psychiatry, etc. has given new information on these conditions. It is easier to demarcate these two disorders at the extremes, but it is extremely difficult dissociating milder forms of both disorders. Asperger's syndrome (AS), is considered to be a continuous and lifelong disorder with strong heritability, present from early childhood. It is included within the category of autism spectrum disorders and it is usually diagnosed in childhood. Patients with Asperger syndrome are often diagnosed late or they are considered as having schizophrenia. Misdiagnosing Asperger syndrome creates severe problems by preventing effective therapy. A lot of clinical characteristics of Asperger's syndrome are also present in schizophrenia, such as impaired social interaction, disabilities in communication and restricted interests. On the other side some clinical features may facilitate the differential diagnosis, such as the younger age at onset, family history of pervasive developmental disorders, pragmatic aspects of language use, lack of imagination, ect. It is known that symptoms of Asperger's syndrome have some overlap with those of schizophrenia, but less is known about comorbidity between these two syndromes. It is still a question whether autism spectrum disorders in young children can increase the risk for the development of schizophrenia and other psychotic disorders, later in life. Both disorders are of neurodevelopmental origin and genetic factors are prominent. In both neurocognitive

  18. Estimating dead-space fraction for secondary analyses of acute respiratory distress syndrome clinical trials.

    Science.gov (United States)

    Beitler, Jeremy R; Thompson, B Taylor; Matthay, Michael A; Talmor, Daniel; Liu, Kathleen D; Zhuo, Hanjing; Hayden, Douglas; Spragg, Roger G; Malhotra, Atul

    2015-05-01

    Pulmonary dead-space fraction is one of few lung-specific independent predictors of mortality from acute respiratory distress syndrome. However, it is not measured routinely in clinical trials and thus altogether ignored in secondary analyses that shape future research directions and clinical practice. This study sought to validate an estimate of dead-space fraction for use in secondary analyses of clinical trials. Analysis of patient-level data pooled from acute respiratory distress syndrome clinical trials. Four approaches to estimate dead-space fraction were evaluated: three required estimating metabolic rate; one estimated dead-space fraction directly. U.S. academic teaching hospitals. Data from 210 patients across three clinical trials were used to compare performance of estimating equations with measured dead-space fraction. A second cohort of 3,135 patients from six clinical trials without measured dead-space fraction was used to confirm whether estimates independently predicted mortality. None. Dead-space fraction estimated using the unadjusted Harris-Benedict equation for energy expenditure was unbiased (mean ± SD Harris-Benedict, 0.59 ± 0.13; measured, 0.60 ± 0.12). This estimate predicted measured dead-space fraction to within ±0.10 in 70% of patients and ±0.20 in 95% of patients. Measured dead-space fraction independently predicted mortality (odds ratio, 1.36 per 0.05 increase in dead-space fraction; 95% CI, 1.10-1.68; p dead-space fraction or its association with mortality less well. Dead-space fraction should be measured in future acute respiratory distress syndrome clinical trials to facilitate incorporation into secondary analyses. For analyses where dead-space fraction was not measured, the Harris-Benedict estimate can be used to estimate dead-space fraction and adjust for its association with mortality.

  19. [Neuropsychiatric phenotype of Angelman syndrome and clinical care: report of seven cases].

    Science.gov (United States)

    Cote-Orozco, Juan E; Mera-Solarte, Paola Del Rocío; Espinosa-García, Eugenia

    2017-04-01

    Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life. We review the diagnosis and long-term clinical care of patients with Angelman syndrome. Sociedad Argentina de Pediatría.

  20. Organophosphate intermediate syndrome with neurological complications of extrapyramidal symptoms in clinical practice

    Directory of Open Access Journals (Sweden)

    Mark B. Detweiler

    2014-01-01

    Full Text Available Organophosphates (OPs are ubiquitous in the world as domestic and industrial agricultural insecticides. Intentional poisoning as suicides attempts are clinical phenomena seen in emergency departments and clinics in agricultural areas. Intermediate syndrome with the neurological complication of extra pyramidal symptoms following acute OP ingestion may occur in pediatric and adult cases. While death is the most serious consequence of toxic OP doses, low levels of exposure and nonfatal doses may disrupt the neurobehavioral development of fetuses and children in addition to bring linked to testicular cancer and male and female infertility. These are disturbing. Chronic and acute toxicity from OPs are barriers to the health of our present and future generations. Symptoms and treatment of acute and chronic OP exposure are briefly referenced with inclusion of the intermediate syndrome. Suggestions for local and systemic reduction of the acute and long term consequences of OP ingestion are opined.