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Sample records for behcet syndrome

  1. Colonic perforation in Behcet's syndrome

    Institute of Scientific and Technical Information of China (English)

    Catherine M Dowling; Arnold DK Hill; Carmel Malone; John J Sheehan; Shona Tormey; Kieran Sheahan; Enda McDermott; Niall J O'Higgins

    2008-01-01

    A 17-year-old gentleman was admitted to our hospital for headache, the differential diagnosis of which included Behcet's syndrome (BS). He developed an acute abdomen and was found to have air under the diaphragm on erect chest X-ray. Subsequent laparotomy revealed multiple perforations throughout the colon. This report describes an unusual complication of Behcets syndrome occurring at the time of presentation and a review of the current literature of reported cases.

  2. Asymptomatic giant coronary aneurysm in an adolescent with Behcet's syndrome

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    Kahn Philip J

    2012-01-01

    Full Text Available Abstract Objective Behcet's is an idiopathic multi-organ syndrome, which may have onset during childhood. Vascular involvement is uncommon, with rarely reported coronary aneurysm formation. We present a case report of a teenager girl who developed recalcitrant life-threatening Behcet's vasculitis, involving both small and large venous and arterial systems including a giant coronary aneurysm. Case report De-identified data were collected retrospectively in case report format. Although our sixteen year old female with Behcet's vasculitis had resolution of many arterial aneurysms, she had persistent venous thrombosis of large vessels, as well as persistent, giant arterial aneurysms requiring intra-arterial coiling of a lumbar artery and coronary bypass grafting despite intensive immunosuppression including glucocorticoids, cyclophosphamide, infliximab, methotrexate, azathioprine and intravenous immunoglobulin. Conclusions Vascular manifestations may be seen in Behcet's syndrome, including asymptomatic coronary aneurysm, which may be refractory to immunosuppression and ultimately require surgical intervention. Increased awareness is essential for prompt diagnosis and management.

  3. Clinico-radiological findings of neuro-Behcet's syndrome

    International Nuclear Information System (INIS)

    We examined 21 cases of Neuro-Behcet's syndrome in detail, and present here their clinico-radiological characteristics. Clinically, signs of pyramidal tract and meningeal irritation were frequently observed. In contrast to previous reports, our study demonstrated a near equal frequency in the occurrence of focal cerebral lesions and that of focal brain stem lesions. Notably, our results showed that the atrophy of both the cerebrum and the brain stem was often observed, indicating the presence of continuous disease activity in the central nervous system (CNS). In accordance with the high frequency of meningeal irritation signs, all of our cases exhibited pleocytosis in the cerebrospinal fluid (CSF). These results indicated the possibility that chemical mediators secreted from infiltrating cells in the CSF may somehow inflict damage to the CNS in Neuro-Behcet's syndrome. (author)

  4. Behcet's disease in acquired immune deficiency syndrome

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    Beenish Siddiqui

    2016-01-01

    Full Text Available HIV/AIDS patients often present with orogenital ulcers. In the immunocompromised patient diagnosis of these ulcers pose a challenge, as there is a myriad of etiologies. We present a case of an HIV/AIDS patient with recurrent orogenital aphthosis that was confirmed to have concomitant diagnosis of Behcet's disease. Proper awareness of the causes of these ulcers is essential for prompt and effective treatment. While rare causes may be at the bottom of a differential list in an immunocompetent host, when HIV/AIDS is involved these rare causes often percolate to the top.

  5. Clinical and Ultrasonographic Evaluation of Lower-extremity Vein Thrombosis in Behcet Syndrome

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    Seyahi, Emire; Cakmak, Osman Serdal; Tutar, Burcin; Arslan, Caner; Dikici, Atilla Suleyman; Sut, Necdet; Kantarci, Fatih; Tuzun, Hasan; Melikoglu, Melike; Yazici, Hasan

    2015-01-01

    Abstract Vascular involvement can be seen in up to 40% of patients with Behcet syndrome (BS), the lower-extremity vein thrombosis (LEVT) being the most common type. The aim of the current study was to compare venous Doppler findings and clinical features between BS patients with LEVT and control patients diagnosed as having LEVT due to other causes. All consecutive 78 patients (71 men, 7 women; mean age 38.6 ± 10.3 years) with LEVT due to BS and 50 control patients (29 men, 21 women; mean age...

  6. Large-vessel thrombosis in intestinal Beh(c)et's disease complicated with myelodysplastic syndrome and trisomy 8

    Institute of Scientific and Technical Information of China (English)

    Huang-Chi Chen; Ying-Ming Chiu

    2012-01-01

    Beh(c)et's disease is characterized by recurrent oral ulcers,genital ulcers,uveitis and skin lesions.Myelodysplastic syndrome (MDS) is characterized by problems due to ineffective hematopoiesis.Several studies have identified a relationship between MDS and Beh(c)et's disease,especially intestinal Beh(c)et's disease.Trisomy 8 seems to play an important role in these disorders as well.The present case was a 24-year-old woman who had a huge tonsil ulcer with initial symptoms of odynophagia and intermittent fever.We also noted folliculitis on her upper back.Five days later,she began to experience diarrhea and abdominal pain.Abdominal computed tomography and subsequent surgery revealed ileum perforation and enterocolitis with multiple ulcers.Later,she was admitted again for a vulvar suppurative ulcer and suspicious Bartholin's cyst infection.The patient's clinical presentations met the criteria for Beh(c)et's disease.Six months after the bowel perforation event,we noted the development of pancytopenia in a routine laboratory examination.All the examinations led to the diagnosis of MDS with trisomy 8.The most unusual finding was that multiple large vessel thrombi developed during follow-up.Previous studies have suggested that trisomy 8 in MDS leads to concurrent intestinal Beh(c)et's disease.Moreover,the inflammatory and immune genes related to thrombus formation are overexpressed in cases of MDS with trisomy 8.Trisomy 8 must play a role in thrombosis.Further studies are needed to help clarify the pathophysiology and pathogenesis of these disorders.

  7. Brain MRI in 17 patients with ocular Behcet`s disease; Risonanza Magnetica dell`encefalo in 17 pazienti affetti da malattia di Behcet oculare

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    Accorinti, Massimo; Pivetti Pezzi, Paola [Rome, Univ. (Italy). Istituto di Oftalmologia; Di Biasi, Claudio; Trasimeni, Guido; Melone, Antonio; Gualdi, Gianfranco [Rome, Univ. (Italy). Unita` TC-RM I Clinica Medica

    1997-04-01

    Behcet`s disease is a chronic relapsing disorder of unknown etiology characterized by oral aphthous ulcerations, uveitis, genital ulcerations and bone lesions. A variety of other signs including polyarthritis, vascular conditions (blood vessel occlusions and aneurysms), epididymitis, gastrointestinal, pulmonary and heart lesions may also occur. Central nervous system (CNS) involvement is reported in 10-49 % of cases and it is the first symptom of the disease in 5 % of subjects. The neuro-Behcet`s syndrome may appear as a brainstem syndrome, and an organic confusional syndrome or dementia. cranial hypertension, mostly related to cerebral venus thrombosis, is also present in neuro-Behcet`s disease and its incidence is reported in up to 10 % of Behcet`s patients. MRI is reportedly the most sensitive neuroradiological approach to detect the focal lesions related to neuro-Behcet disease and several single cases or series of Behcet`s patients with neurologic sings have been examined with MRI. They used MRI to investigate CNS involvement in Behcet`s disease patients with and without previous neurologic sings. MRI was carried out on 17 patients with ocular Behcet`s disease without neurological symptoms to assess the possible subclinical involvement of the CNS. PD and T2-weighted hypersignal foci were demonstrated in parietal, frontal, subcortical and periventricular white matter in 6 subjects. Neuroradiological abnormalities were found only in patients with complete disease and with the disease diagnosed more than 10 years earlier. Even though the pathogenesis of these neuroradiological abnormalities and their correlation with Behcet`s disease remain to be clarified, their study suggests the possibility of subclinical CNS involvement in these patients, which may affect the therapeutic approach and their prognosis.

  8. Clinical and Ultrasonographic Evaluation of Lower-extremity Vein Thrombosis in Behcet Syndrome

    Science.gov (United States)

    Seyahi, Emire; Cakmak, Osman Serdal; Tutar, Burcin; Arslan, Caner; Dikici, Atilla Suleyman; Sut, Necdet; Kantarci, Fatih; Tuzun, Hasan; Melikoglu, Melike; Yazici, Hasan

    2015-01-01

    Abstract Vascular involvement can be seen in up to 40% of patients with Behcet syndrome (BS), the lower-extremity vein thrombosis (LEVT) being the most common type. The aim of the current study was to compare venous Doppler findings and clinical features between BS patients with LEVT and control patients diagnosed as having LEVT due to other causes. All consecutive 78 patients (71 men, 7 women; mean age 38.6 ± 10.3 years) with LEVT due to BS and 50 control patients (29 men, 21 women; mean age 42.0 ± 12.5 years) who had LEVT due to other causes, or idiopathic, were studied with the help of a Doppler ultrasonography after a detailed clinical examination. Patterns of venous disease were identified by cluster analyses. Clinical features of chronic venous disease were assessed using 2 classification systems. Venous claudication was also assessed. Patients with BS were more likely to be men, had significantly earlier age of onset of thrombosis, and were treated mainly with immunosuppressives and less frequently with anticoagulants. Furthermore, they had significantly more bilateral involvement, less complete recanalization, and more frequent collateral formation. While control patients had a disorganized pattern of venous involvement, BS patients had a contiguous and symmetric pattern, involving all deep and superficial veins of the lower extremities, with less affinity for crural veins. Clinical assessment, as measured by the 2 classification systems, also indicated a more severe disease among the BS patients. In line, 51% of the BS patients suffered from severe post-thrombotic syndrome (PTS) and 32% from venous claudication, whereas these were present in 8% and 12%, respectively, among the controls. Among BS patients, a longer duration of thrombosis, bilateral femoral vein involvement, and using no anticoagulation along with immunosuppressive treatment when first diagnosed were found to be associated independently with severe PTS. Lower-extremity vein

  9. Therapeutic approach to "downhill" esophageal varices bleeding due to superior vena cava syndrome in Behcet's disease: a case report

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    Haghighi Mahshid

    2006-12-01

    Full Text Available Abstract Background One of the rare presentations of superior vena cava syndrome is bleeding of "downhill" esophageal varices (DEV and different approaches have been used to control it. This is a case report whose DEV was eradicated by band ligation for the first time. Case presentation We report a 42-year-old man who is a known case of Behcet's disease. The patient's first presentation was superior vena cava syndrome due to thrombosis followed by bipolar ulcers and arthralgia. He received warfarin, prednisolone and azathioprine. The clinical course of the patient was complicated by one episode of hematemesis without abdominal pain when the patient's PT was in therapeutic range. After resuscitation and correction of PT with fresh frozen plasma transfusion, upper gastrointestinal endoscopy was done. Prominent varices were seen in the upper third of the esophagus, tapering to the middle part without acute bleeding. Stomach and duodenum were normal. Color ultrasonography evaluation of the portal, hepatic and splenic veins was negative for thrombosis. Band ligation was done and the patient's bleeding did not recur. Conclusion Band ligation is a safe and effective method for controlling DEV bleeding in patients with uncorrectable underlying disorders.

  10. Behcet's disease.

    Science.gov (United States)

    Suzuki Kurokawa, M; Suzuki, N

    2004-09-01

    Behcet's disease (BD) is a systemic disorder of recurrent acute inflammation, characterized by major symptoms of oral aphthous ulcers, uveitis, skin lesions and genital ulcers. Involvement of intestines, vessels, and central nervous system (CNS) sometimes leads to a poor prognosis. Patients with BD are known to distribute along the ancient Silk Road. The incidence is relatively higher from eastern Asia to the Mediterranean area as roughly 1-10 patients in 10,000 people, whereas only 1-2 patients in 1,000,000 people in UK and North America. Although etiology of the disease is still unknown, high prevalence of HLA-B51, increased expression of heat shock protein 60 and Th1 dominant immune responses in the patients are considered important in its pathogenesis. Non-infectious neutrophil activation and infection with Streptococcus sanguis and herpes simplex virus would also be associated. Because BD lacks any pathognomonic symptoms and laboratory findings, the diagnosis relies largely upon the criteria proposed by the International Study Group for Behcet's disease in 1990. In Japan, the diagnosis was also made according to the Japanese criteria revised in 1987. Recently, the Behcet's Disease Research Committee of Japan again revised the Japanese criteria in 2003 to avoid overdiagnosis. The new Japanese criteria are introduced in this review. Differential diagnosis excluding Sweet's disease, pemphigus, erythema nodosum and Crohn's disease is important, and positive laboratory data for pathergy test, prick test for dead Streptococci and HLA-B51 are emphasized to make appropriate diagnosis in these criteria. Pathological findings of the disease-affected site such as erythematous nodosum is also stressed. Treatment for the disease has been chosen according to the clinical symptoms. Non-steroidal anti-inflammatory drugs, immunosuppressants, corticosteroids and colchicine are basically introduced. Recently, effects of interferon-alpha/beta, anti-tumor necrosis factor antibody

  11. 白塞病中医证型与用药规律文献分析%Literature Analysis on Syndrome Types and TCM Prescriptions of Behcet's Disease

    Institute of Scientific and Technical Information of China (English)

    刘维; 陈腾

    2015-01-01

    Objective To analyze syndrome types and TCM prescriptions of Behcet's disease;To summarize the regularity of TCM syndrome differentiation and treatment principles of Behcet's disease.Methods Related literature in CNKI and VIP database from Jan. 1990 to Oct. 2013 was searched. The syndrome patterns, characteristics of prescriptions and frequency of syndrome were summarized.Results There were 20 syndrome types of Behcet's disease in the 58 collected literature. Damp and hot accumulating poison, spleen and kidney Yang deficiency, liver and kidney Yin deficiency, and hot and damp were common syndromes, occupying 55.4%. Hot and damp occupied 41.3%;Yin deficiency occupied 18.1%;Yang deficiency occupied 12.9%. Liver, spleen and kidney were the main disease locations, occupying 94.4%. There were 197 Chinese herbs in total, and could be classified and further combined into 19 types, among which heat-clearing drugs, tonics, activate blood and removing blood stasis were commonly adopted, occupying 50.6%. There were 66 prescriptions collected, among which 31 were set prescriptions, and 35 were prescriptions formed by self-experience. Longdan Xiegan Decoction and Gancao Xiexin Decoction were commonly adopted.Conclusion Syndrome types and TCM prescription characteristics of Behcet's disease had certain regularity, which can provide reference for clinical diagnosis and treatment.%目的:分析白塞病中医证型和处方用药,探讨白塞病的中医辨证论治规律。方法检索1990年1月-2013年10月中国期刊全文数据库(CNKI)和中文科技期刊数据库(VIP)相关文献,对纳入文献中的证型、用药进行整理,总结各证型、药物的类别及其出现频次、频率。结果共纳入58篇文献,涉及证型20个,其中常见证型为湿热蕴毒、脾肾阳虚、肝肾阴虚、湿热壅盛,占总频次的55.4%。证候要素中湿热占总频次的41.3%,阴虚占18.1%,阳虚占12.9%;病位主要在肝

  12. Musculoskeletal Findings in Behcet's Disease

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    Ali Bicer

    2012-01-01

    Full Text Available Behcet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Rheumatologic manifestations may also occur in Behcet's disease, and arthritis and arthralgia are the most common musculoskeletal findings followed by enthesopathy, avascular necrosis, myalgia, and myositis. Although the main pathology of Behcet's disease has been known to be the underlying vasculitis, the etiology and exact pathogenesis of the disease are still unclear. Musculoskeletal findings of Behcet's disease, the relationship between Behcet's disease and spondyloarthropathy disease complex, and the status of bone metabolism in patients with Behcet's disease were discussed in this paper.

  13. Behcet's: A Disease or a Syndrome? Answer from an Expression Profiling Study.

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    Ali Kemal Oğuz

    Full Text Available Behçet's disease (BD is a chronic, relapsing, multisystemic inflammatory disorder with unanswered questions regarding its etiology/pathogenesis and classification. Distinct manifestation based subsets, pronounced geographical variations in expression, and discrepant immunological abnormalities raised the question whether Behçet's is "a disease or a syndrome". To answer the preceding question we aimed to display and compare the molecular mechanisms underlying distinct subsets of BD. For this purpose, the expression data of the gene expression profiling and association study on BD by Xavier et al (2013 was retrieved from GEO database and reanalysed by gene expression data analysis/visualization and bioinformatics enrichment tools. There were 15 BD patients (B and 14 controls (C. Three subsets of BD patients were generated: MB (isolated mucocutaneous manifestations, n = 7, OB (ocular involvement, n = 4, and VB (large vein thrombosis, n = 4. Class comparison analyses yielded the following numbers of differentially expressed genes (DEGs; B vs C: 4, MB vs C: 5, OB vs C: 151, VB vs C: 274, MB vs OB: 215, MB vs VB: 760, OB vs VB: 984. Venn diagram analysis showed that there were no common DEGs in the intersection "MB vs C" ∩ "OB vs C" ∩ "VB vs C". Cluster analyses successfully clustered distinct expressions of BD. During gene ontology term enrichment analyses, categories with relevance to IL-8 production (MB vs C and immune response to microorganisms (OB vs C were differentially enriched. Distinct subsets of BD display distinct expression profiles and different disease associated pathways. Based on these clear discrepancies, the designation as "Behçet's syndrome" (BS should be encouraged and future research should take into consideration the immunogenetic heterogeneity of BS subsets. Four gene groups, namely, negative regulators of inflammation (CD69, CLEC12A, CLEC12B, TNFAIP3, neutrophil granule proteins (LTF, OLFM4, AZU1, MMP8, DEFA4, CAMP

  14. Pulmonary alterations in Behcet's disease

    International Nuclear Information System (INIS)

    Purpose: This study aims to demonstrate pulmonary alterations (PA) in patients with Behcet's disease by using CT. Materials and methods: CTs of 50 patients with Behcet's disease and 20 others in a control group have been evaluated retrospectively for PA (septal, reticular, nodular, atelectatic opacities). Results: Eight out of 50 patients (16%) with Behcet's disease showed PA. Three out of 20 (15%) in the control group showed PA. No differences were observed between Behcet's disease patients and the control group regarding pulmonary alterations (p = 0.917). No differences were observed in the disease duration, ages and sex in either group in those with and without PA. Conclusion: Pulmonary alterations can be seen in patients with Behcet's disease, but these alterations are not significant.

  15. Behcet's disease involving the breast

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    Soleto, Maria Jesus; Marcos, Lourdes [Department of Radiology, Hospital de la Princesa, Universidad Autonoma, Diego de Leon 62, 28006 Madrid (Spain)

    2002-07-01

    Behcet's disease is a vasculitis of unknown origin that was traditionally defined by oral and genital ulcers and uveitis. We describe a case of a patient with a diagnosis of Behcet's syndrome who presented a palpable lesion in the right breast with inflammatory signs. X-ray findings posed a differential diagnosis between tumoral and inflammatory pathology. The pathological findings confirmed a small-vessel vasculitis. We found two reports of breast involvement by this disease in the literature. Our patient was studied by mammogram and sonogram which together with clinical history are important to prevent delay in diagnosis and unnecessary therapeutic procedures. (orig.)

  16. Clinic Analysis of Behcet Disease

    Institute of Scientific and Technical Information of China (English)

    Jingjun Lin; Hongni Li; Yixia Huang; Kangkeng Zheng; Zhongxia Zhou; Xiaofeng Lin

    2004-01-01

    Purpose: To analyze the clinic manifestation and prognosis of Behcet disease.Method: Twenty patients requiring inpatient treatment with Behcet disease were retrospectively analyzed.Results: The morbidity of Behcet disease is 5.5/100 000. In the systemic damage, stomatocace and skin lesion are 95%, eye lesion and genital ulcer 50%, joint lesion 45%,gastrointestinal lesion 35%, Uveitis is the major disease in eye lesion, and followed in order by retinal vasculitis and obstruction of retinal artery. Attack age average 30.3 years old. Diagnosis age average 34.8 years old. The patients stay in hospital for 41 days on the average. Cure rate is 55%, improvement rate 40%, blinding rate of eye lesion is 36%.Conclusions: Behcet disease is a multisystem lesion disease. Stomatocace and skin lesion is the major lesion, the next in common occurrence are eye and genital lesions. Repeated attack of uveitis, complicated cataract and secondary glaucoma are the major causes of blindness.

  17. Myonecrosis of Behcet's disease

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    Stubbs, Alana Y. [Southern Arizona Veterans Administration Health Care System, Department of Radiology, Tucson, AZ (United States); Taljanovic, Mihra S. [University of Arizona HSC, Radiology and Orthopaedic Surgery, Department of Radiology, Tucson, AZ (United States); Massey, Brandon Z. [The Village Offices, Institute for Plastic Surgery and Peripheral Nerve Surgery, Tucson, AZ (United States); Graham, Anna R. [University of Arizona HSC, Department of Pathology, Tucson, AZ (United States); Friend, Christopher J.; Walsh, Joshua A. [Inland Imaging, LLC, Spokane, WA (United States)

    2008-04-15

    Behcet's disease is an inflammatory disease of unknown cause characterized by intermittent episodes of acute inflammation manifested by oral aphthous ulcers, genital ulcers, uveitis, and skin lesions. We report a rare case of myonecrosis associated with Behcet's disease. Myonecrosis of Behcet's disease can mimic soft tissue abscess and therefore awareness of this entity in the appropriate clinical setting is important for initiation of appropriate and timely treatment. (orig.)

  18. Behcet's Disease and Endocrine System

    OpenAIRE

    Kerem Sezer; Onur Ozhan

    2012-01-01

    Behcet's disease (BD) is a chronic disease which is characterized by recurrent oral apthous ulcerations, recurrent genital ulcerations, skin eruptions, ocular involvements and other various systemic manifestations as well as systemic vasculitis. Endocrine involvement in BD regarding various systems can be seen. Hypophysis is one of the best and dense vascularized organs of the body, thus it is likely that it can be affected by BD. Not only anterior hypophysis functions, but posterior hypophys...

  19. 贝赫切特综合征合并强直性脊柱炎4例并文献复习%Coexisting of Behcet's Syndrome and Ankylosing Spondylitis:Four Cases Reports and Review of Literature

    Institute of Scientific and Technical Information of China (English)

    张晓利; 王立; 郑文洁; 张奉春

    2013-01-01

    目的 贝赫切特综合征(Behcet syndrome,BS)和强直性脊柱炎(ankylosing spondylitis,AS)共存罕见,本文旨在通过报告BS合并AS患者情况及相关文献复习,分析其临床特点,以提高认识.方法 报道北京协和医院2010年1月至2012年8月诊治的4例BS合并AS患者的临床资料.结果 4例患者中男2例,女2例,确诊BS合并AS的年龄为18~55岁.4例均有口腔及外阴溃疡和中轴关节受累,伴外周关节炎、葡萄膜炎、皮肤结节红斑者各2例.HLA-B27阳性者3例,HLA-B51阳性者2例,二者均阳性者1例.3例患者经非甾体抗炎药、局部滴眼和(或)口服激素和免疫抑制剂治疗好转,1例经肿瘤坏死因子-α抑制剂治疗得到临床缓解.结论 BS可伴发AS并有一定的特点,需引起临床医务工作者重视.二者关联性尚不清楚,需在临床工作中进一步总结.%Objective The coexistence of Behcet' s syndrome ( BS) and ankylosing spondylitis ( AS ) is a rare combination and were described only in case reports in the literature. The study is aimed to analyze the clinical characteristics of BS concomitant with AS. Methods Four cases concomitant with BS and AS who were treated in Peking Union Medical College Hospital from Jan 2010 to Aug 2012 were reported, and the cases with both BS and AS published in the literatures were summarized. Results Four patients with a male to female ratio of 1: 1 were diagnosed as coexistence of BS and AS at the age ranged from 18 to 55 years. All patients had oral and genital ulcerated lesions and axial spondyloarthritis, accompanied by peripheral arthritis, anterior uveitis and erythema nodosum in 2 cases, respectively. Three cases were positive for HLA-B27 , 2 cases were positive for HLA-B51, and one case was positive for both HLA-B27 and HLA-B51. The anti-rheumatic therapy included non-steroidal anti-inflammatory drugs, topical and/or systemic steroids and immunosuppressants. Three patients had good therapeutic responses. Remission

  20. Renal involvement in behcet's disease

    International Nuclear Information System (INIS)

    There are conflicting reports about the renal involvement in Behcet's disease (BD). In this study we aimed to study the frequency and type of renal involvement in a group of patients with BD in Azerbaijan province that is one of the prevalent areas of BD in Iran. All cases of BD were prospectively followed between June 2004 and January 2007, and evaluated for renal dys-function (serum creatinine > 1.7 mg/dL), glomerular hematuria and proteinuria. Those patients with proteinuria > 500 mg/day and serum creatinine level > 2 mg/dL, underwent renal biopsy. From a total number of 100 patients, six patients (6%) had obvious renal involvements. Four patients had glomerular hematuria and proteinuria. Renal biopsy in two of them revealed measangial proliferative glumerulonephritis with IgA deposit in one of them and membranoproliferative glumerolonephritis in another one. Two remaining patients had serum creatinine > 2 mg/dL without any hematuria or proteinuria. Serologic study for viral agents and collagen vascular disease were negative in all patients with renal involvements. In conclusion, renal involvement in BD is not infrequent, although in most cases it is mild in nature and may be missed. (author)

  1. MRI findings of neuro-Behcet's disease.

    Science.gov (United States)

    Borhani Haghighi, Afshin; Sarhadi, Sirous; Farahangiz, Siamak

    2011-06-01

    Neurological manifestations present in 5% to 30% of patients with Behçet's disease. We studied consecutive patients with relapsing--remitting or progressive neuro-Behcet's disease who referred from January 2002 to January 2009 to Nemazee Hospital, Shiraz, southern Iran. Sequential MRIs were performed during clinical relapses in patients with relapsing--remitting course or during relentless progression after first referral of patients with progressive course. We reviewed 55 MRIs of 17 patients (ten men and seven women) with age of 36.4 ± 8.1 years at the time of first MRI. Nine (53%) patients had a relapsing-remitting course and eight (47%) had a progressive course. The initial and last follow-up studies had a mean interval of 29.2 months (range, 24 to 84). Of the patients with progressive neuro-Behcet's disease, 50% had brainstem atrophy and 75% had black holes in their last follow-up MRIs. The respective prevalence rates for those with relapsing--remitting neuro-Behcet's disease were 0% and 11%. In the total population of patients with neuro-Behcet's disease, the number of lesions (p = 0.002) and MRI burden (p = 0.016) had a significant increase in the last follow-up studies in comparison to the initial studies. Incremental pattern in the number of lesions and MRI burdens in patients with parenchymal neuro-Behcet's disease in our longitudinal study may imply an ongoing pathologic process. PMID:21165752

  2. A Case of Intestinal Behcet's Disease Similar to Crohn's Colitis

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    Kim, Eun-Sun; Chung, Woo-Chul; Lee, Kang-Moon; Lee, Bo-In; Choi, Hwang; Han, Sok-Won; Choi, Kyu-Yong; Chung, In-Sik

    2007-01-01

    Behcet's disease is a multi-systemic vasculitis and characterized by systemic organ involvement. Although the gastrointestinal and systemic features of Behcet's disease and inflammatory bowel disease overlap to a considerable extent, they are generally viewed as two distinct diseases. A 39-yr-old female was diagnosed as having Behcet's disease. She was admitted to our hospital because of oral and genital ulcer, lower abdominal pain, and frequent diarrhea. Colonosopy showed diffuse involvement...

  3. 神经白塞综合征的临床和脑脊液细胞学特点%A clinical and cerebrospinal fluid cytology study of neuro-Behcet syndrome

    Institute of Scientific and Technical Information of China (English)

    关鸿志; 陈琳; 吴庆军; 王建明; 朱以诚; 任海涛; 崔丽英

    2012-01-01

    目的 回顾性分析神经白塞综合征(NBS)临床和脑脊液(CSF)细胞学资料,探讨该病的临床和CSF细胞学特点.方法 回顾1991-2010年间北京协和医院NBS住院患者共27例,分析其临床表现、神经影像学和CSF细胞学特点.结果 27例患者中,神经科症状急性病程19例,亚急性病程6例,慢性病程2例.临床表现:头痛9例,偏瘫8例,复视6例,偏身感觉障碍5例,意识障碍5例,失语3例,癫痫发作3例,精神行为异常、智能减退6例,截瘫2例,共济失调2例,呛咳、吞咽困难2例,帕金森综合征1例.头MRI异常16例,多发片状T1低或较低信号,T2高信号,病灶分布于基底节、脑干、丘脑等处,9例行增强MRI均有强化;2例颈段脊髓MRI可见强化病灶.磁共振静脉成像(MRV):1例符合上矢状窦血栓形成.CSF检查:19例行腰穿查CSF,其中8例压力升高,17例蛋白升高(0.48~1.08 g/L);行CSF细胞学检查(沉淀池法制片,迈-格-姬染色)的11例中7例表现为淋巴细胞为主的炎性反应,其中6例伴有中性粒细胞比例升高,余4例中3例为淋巴细胞与中性粒细胞为主的混合性炎性反应,1例为中性粒细胞性炎性反应,8例可见激活淋巴细胞,4例可见浆细胞.结论 NBS临床表现多样,神经影像学改变以基底节、脑干和丘脑等邻近中线的结构受累为主,CSF细胞学呈炎性反应表现.CSF细胞学炎性反应类型,特别是CSF中性粒细胞比例升高对NBS的诊断具有一定意义.%Objective To demonstrate the clinical and cerebrospinal fluid ( CSF) cytological characteristics of neuro-Behcet syndrome (NBS), we retrospectively reviewed the clinical data and CSF cytology of patients with NBS in Peking Union Medical College Hospital (PUMCH). Methods We described 27 hospitalized patients with NBS and reviewed their clinical data, neuroimaging findings and CSF cytology. Conventional cytology of CSF was performed with May-Grunwald-Giemsa stain. The relevant literatures on the

  4. Aortocaval Fistula in a Behcet's Disease Patient

    Directory of Open Access Journals (Sweden)

    Yusuf Ata

    2009-01-01

    Full Text Available Behcet's disease (BD is a chronic, recurrent, systemic disease that is characterized by oral and genital ulcers and oculocutaneous inflammatory lesions. Cardiovascular involvement especially large artery involvement is a serious and vital complication of BD. Pseudoaneurysms in the major arteries may be the cause of sudden death in BD. In our case a pulsatile abdominal mass was determined to be an aortic pseudoaneurysm associated with BD and an aortocaval fistula. Here we report this case and a short review of literature because this is the first reported aortocaval fistula in a BD patient in English literature.

  5. Meningeal involvement in Behcet's disease: MRI

    International Nuclear Information System (INIS)

    Behcet's disease is a multisystem disease that involves the central nervous system up to half of cases. Presentation with neurologic symptoms occurs in 5 % of cases and cerebral venous thrombosis is one of its major manifestations. A feature not previously reported is progressive meningeal thickening with involvement of both optic nerves. We report a patient with cerebral venous thrombosis, meningeal thickening and contrast enhancement on MRI. This patient had two other unusual features: positive antineutrophil cytoplasmic antibodies and later development of central diabetes insipidus. (orig.)

  6. Vascular manifestations of Behcet's disease

    Directory of Open Access Journals (Sweden)

    Regina Georgiyeva Goloeva

    2010-04-01

    Conclusion. Vascular disorders in BD were diagnosed in one fourth of the patients, mainly in young male patients. Severe thromboses with the development of chronic venous insignificance, Budd-Chiari syndrome, pulmonary and iliac artery aneurysms, and arterial thromboses were observed in male patients only. Vascular events were associated with erythema nodosum and epididymitis; in these concomitances, the vascular risk was substantially increased. Vascular death rates were 2,2%.

  7. Intestinal Behcet's disease with pyoderma gangrenosum: A case report

    Institute of Scientific and Technical Information of China (English)

    Toshio Nakamura; Hiroaki Yagi; Kiyotaka Kurachi; Shohachi Suzuki; Hiroyuki Konno

    2006-01-01

    We report here a very rare case of intestinal Behcet's disease with pyoderma gangrenosum. A 16-year-old woman who was diagnosed with intestinal Behcet's disease by the presence of cutaneous pathergy together with two major criteria (oral and genital aphthoses) and one minor criterion (gastrointestinal manifestations), was referred to our hospital with a left lower leg ulcer and abdominal pain in September 1989. Colonoscopy demonstrated flare-up colitis involving the entire colon. Her lower leg lesion was a painful destructive ulcer with an irregular margin and a ragged overhanging edge. Based on these clinical and laboratory findings, we diagnosed her cutaneous ulcer as pyoderma gangrenosum developing with exacerbated intestinal Behcet's disease.Her cutaneous and intestinal lesions were poorly controlled though she received oral prednisolone treatment for a month. Because of aggravated abdominal symptoms with peritoneal irritation, we performed total colectomy in November 1989. The resected specimen was histologically compatible with intestinal Behcet's disease showing severe inflammation with deep ulcerations and neutrophil accumulation. Subsequently,pyoderma gangrenosum rapidly improved. This clinical course may suggest the close relationship between pyoderma gangrenosum and intestinal Behcet's disease.

  8. Proton MRS in Behcet's disease with and without neurological findings

    International Nuclear Information System (INIS)

    Our aim was to investigate whether neurological impairment in Behcet's disease (BD) can be assessed by means of proton MRS and whether it can assist in prognosis. We used single-voxel MRS to measure metabolites in regions of normal-appearing pons, basal ganglia and periventricular white matter (PWM) in 32 patients with chronic BD patients with and without neurological deficits and 29 control subjects. Patients had significantly higher N-acetylaspartate (NAA)/creatine (Cr) and choline (Cho)/Cr ratios in the basal ganglia than the controls. The Cho/Cr ratio in the PWM was also significantly higher in the patients. MRS enabled clear discrimination of patients and controls and also revealed spectral differences between non-neuro-Behcet's disease and neuro-Behcet's disease in the basal ganglia. MRS can be used to assess brain involvement in BD even if structural changes are absent. (orig.)

  9. Intestinal Behcet's disease with esophageal ulcers and colonic longitudinal ulcers

    Institute of Scientific and Technical Information of China (English)

    Soichiro Fujiwara; Ichiro Shimizu; Momoko Ishikawa; Kohzo Uehara; Hirofumi Yamamoto; Michiyo Okazaki; Takahiro Horie; Arata Iuchi; Susumu Ito

    2006-01-01

    Intestinal Behcet's disease in a 38-year-old woman was diagnosed because of the history of recurrent oral aphthous ulcers, erythema nodosum-like eruptions,genital ulcer, and endoscopic findings of esophageal and ileocolonic punched-out ulcers with colonic longitudinal ulcers. Esophageal lesions and colonic longitudinalulcers are rarely seen in intestinal Behcet's disease. The ulcers of esophagus and ileocolon healed with 3 wk of treatment with prednisolone and mesalazine without any adverse effect. Mesalazine may decrease the total dose of prednisolone required to treat the disease.

  10. Multiple cardiovascular complications in a patient with Behcet disease

    Institute of Scientific and Technical Information of China (English)

    LIU Jing; ZHENG Jun; CUI Li; XU Xian-rong

    2010-01-01

    @@ Behcet disease (BD) is a chronic multisystem disease that presents with recurrent oral and genital ulceration and recurrent uveitis. Vascular and cardiac thromboses are rare but life threatening complications.We report a case of right internal jugular vein and brachiocephalic vein thrombus and successive cardiac thrombosis, which was finally diagnosed with BD.

  11. Clinical Characters of Gastrointestinal Lesions in Intestinal Behcet's Disease

    Institute of Scientific and Technical Information of China (English)

    Wei-bin Wang; Yu-pei Zhao; Lin Cong; Hao Jing; Quan Liao; Tai-ping Zhang

    2011-01-01

    Objective To investigate the clinical features, diagnosis methods, therapeutic principles of intestinal Behcet's disease.Methods The clinical data of 45 patients with confirmed intestinal Behcet's disease admitted to Peking Union Medical College Hospital from August 1998 to April 2010 were retrospectively analyzed.Results The clinical courses of patients with intestinal Behcet's disease were from 26 days to 33 years, and the average duration was 6.32±1.01 years. The appearance of extra-gastrointestinal symptoms was significantly earlier than that of gastrointestinal symptoms (7.35±1.39 years vs.3.24±0.82 years,P<0.05). The predominant gastrointestinal manifestations were right lower quadrant pain (95.56%) and hematochezia or melena (40.00%). Misdiagnosis occurred in 17 cases. In patients without systemic medicine therapy before surgery, the incidence of postoperative infection of incision site and abdominal cavity was significantly higher than that in those undergoing systemic medicine therapy (80.00% vs.0%, P<0.05).Conclusions Because of the diversity of gastrointestinal manifestations, intestinal Behcet's disease is easily misdiagnosed. The systemic medical therapy before surgery could decrease the incidence of infection of incision and abdominal cavity.

  12. Endovascular Treatment of Veno-Occlusive Behcet's Disease

    Energy Technology Data Exchange (ETDEWEB)

    Tekbas, Guven, E-mail: drgtekbas@gmail.com [Dicle University School of Medicine, Department of Radiology (Turkey); Oguzkurt, Levent, E-mail: loguzkurt@yahoo.com; Gur, Serkan, E-mail: mserkangur@yahoo.com [Baskent University School of Medicine, Department of Interventional Radiology, Adana Hospital (Turkey); Onder, Hakan, E-mail: drhakanonder@hotmail.com [Dicle University School of Medicine, Department of Radiology (Turkey); Andic, Cagatay, E-mail: cagatayandic@gmail.com [Baskent University School of Medicine, Department of Interventional Radiology, Adana Hospital (Turkey)

    2012-08-15

    Purpose: To retrospectively evaluate the outcome of endovascular treatments for patients with chronic veno-occlusive disease in different vascular beds secondary to Behcet's disease (BD). There are few case reports on the subject, and this is the largest study to date. Materials and Methods: From January 2001 through October 2009, chronic venous occlusions were treated in 10 patients (all male [age range 18-76 years]) with BD using percutaneous transluminal angioplasty and/or stent placement. All patients were symptomatic and had chronic iliofemoral deep venous thrombosis (DVT; n = 5), central venous occlusion (n = 3), or Budd-Chiari syndrome (BCS; n = 2). All patients met criteria of the International Study Group on Behcet's Disease. Results: Two of five patients with DVT had unsuccessful recanalization attempts. Three patients had successful recanalization with stent placement. All three veins were occluded within 1 month with unsuccessful reinterventions. Three patients with chronic central venous occlusion had successful recanalization with percutaneous transluminal angioplasty (n = 1) and stent placement (n = 2). Two patients had reocclusion with successful reintervention. Two BCS patients had successful treatment with stent placements. Overall technical success was 69%, and no procedural complications were encountered. None of the patients with chronic DVT had patent veins; however, all patients with central venous occlusion or BCS had patent veins on color Doppler ultrasonography at follow-up ranging from 3 to 48 months after intervention. Conclusion: Endovenous treatment for chronic iliofemoral DVT due to BD had a poor outcome. However, long-term outcome after endovenous treatment for upper-extremity central venous occlusion and BCS syndrome was good.

  13. Vitamin D status in patients with Behcet's Disease

    Directory of Open Access Journals (Sweden)

    Saliha Karatay

    2011-01-01

    Full Text Available OBJECTIVES: This study investigated the serum 25-hydroxyvitamin D levels of patients with Behcet's Disease. DESIGN AND METHODS: Thirty-two patients with Behcet's Disease and 31 matched healthy controls were enrolled in this study. The erythrocyte sedimentation rate (ESR and the levels of C-reactive protein (CRP, serum 25-hydroxyvitamin D, calcium (Ca, phosphate (P, and total alkaline phosphatase (ALP were measured in both groups. RESULTS: There were no significant differences between the two groups regarding demographic data. The serum 25-hydroxyvitamin D levels of patients and controls were 13.76 (range: 4.00-35.79 and 18.97 (range: 12.05-36.94 ng/ml, respectively. In patients with Behcet's Disease, 25-hydroxyvitamin D values were significantly lower than those of the healthy controls (p<0.001. Serum Ca, P, and ALP levels were similar in both groups. Serum ESR and CRP levels were significantly higher in patients than controls (p<0.05. There was no correlation between 25-hydroxyvitamin D levels and age, body mass index (BMI, disease duration, ESR, or CRP levels. Multivariate regression analysis parameters showed that smoking, alcohol intake, and use of colchicine were the main predictors of 25-hydroxyvitamin D levels. Of the parameters studied, the largest impact was due to colchicine therapy (p<0.001. We did not find a significant relationship between the use of corticosteroids and 25-hydroxyvitamin D levels. CONCLUSION: Our results suggest that serum 25-hydroxyvitamin D levels are decreased in patients with Behcet's Disease. Smoking, alcohol intake, and use of colchicine appear to affect vitamin D levels.

  14. Identification of multiple independent susceptibility loci in the HLA region in Behcet's disease

    NARCIS (Netherlands)

    Hughes, Travis; Coit, Patrick; Adler, Adam; Yilmaz, Vuslat; Aksu, Kenan; Duzgun, Nursen; Keser, Gokhan; Cefle, Ayse; Yazici, Ayten; Ergen, Andac; Alpsoy, Erkan; Salvarani, Carlo; Casali, Bruno; Koetter, Ina; Gutierrez-Achury, Javier; Wijmenga, Cisca; Direskeneli, Haner; Saruhan-Direskeneli, Guher; Sawalha, Amr H.

    2013-01-01

    Behcet's disease is an inflammatory disease characterized by recurrent oral and genital ulcers and significant organ involvement. Localizing the genetic association between HLA-B*51 and Behcet's disease and exploring additional susceptibility loci in the human leukocyte antigen (HLA) region are comp

  15. Giant aneurysm of the left anterior descending coronary artery in a pediatric patient with Behcet's disease.

    Science.gov (United States)

    Cook, Amanda L; Rouster-Stevens, Kelly; Williams, Derek A; Hines, Michael H

    2010-07-01

    Behcet's disease is a rare autoimmune vasculitis characterized by oral aphthosis, genital ulcers, and ocular and cutaneous lesions. Vascular involvement usually affects the veins more commonly than the arteries, and coronary arterial involvement is extremely rare. We report an adolescent with Behcet's disease who developed a large pseudoaneurysm of the left anterior descending coronary artery requiring a coronary arterial bypass graft.

  16. Pseudotumor cerebral na síndrome de Behcet: registro de um caso

    OpenAIRE

    Maria Teresa Alves Hirata; Milberto Scaff; Paulo Euripedes Marchiori; Célio Roberto Gonçalves

    1987-01-01

    Os autores descrevem um caso de síndrome de Behcet tendo como manifestação neurológica quadro de pseudo tumor cerebral (PTC). É realçada a possibilidade de trombose venosa cerebral desencadear PTC na síndrome de Behcet.

  17. Magnetization transfer ratio in neuro-Behcet disease

    Energy Technology Data Exchange (ETDEWEB)

    Anik, Yonca; Demirci, Ali; Akansel, Guer [University of Kocaeli, School of Medicine, Department of Radiology, Kocaeli (Turkey); Kural, Zekiye [American Hospital, Department of Neurology, Istanbul (Turkey); Aksu, Sibel; Vural, Metin [American Hospital, Department of Radiology, Istanbul (Turkey)

    2005-02-01

    The aim of this study was to determine the contribution of magnetization transfer ratios (MTRs) in detecting disease in normal-appearing brain regions of patients with neuro-Behcet (NB) disease. Thirty-two patients with NB disease were assessed. Fifteen healthy volunteers were examined as the control group. Magnetic resonance (MR) imaging of the head was performed without and with magnetization transfer (MT) contrast. Signal intensity measurements were obtained from ten anatomical regions (centrum semiovale, corona radiata, internal capsule, forceps major, forceps minor, thalamus, substantia nigra pars compacta, substantia nigra pars grisea, inferior pons and middle cerebellar peduncle) in both groups. Also measured in the NB group were parenchymal lesions in the brain stem, basal ganglia and cerebral deep white matter. MTR was calculated for each measurement. Statistical analysis was performed with Mann-Whitney U and independent t-tests with computer-based SPSS 11.0 for Windows software. A Pvalue below 0.05 was considered statistically significant. The mean MTR of the parenchymal lesions in the NB group was lower than the mean MTR of the normal-appearing parenchyma in both the NB patients and the normal group. For the normal-appearing parenchyma the mean MTR in the NB group was higher than that for the controls for all regions except the corona radiata; however, the difference was statistically significant only for the thalamus. The MRI-visible parenchymal involvement of Behcet's disease causes a decrease in MTR. For the normal-appearing brain, although lacking statistical significance for the most regions studied, the tendency for higher MTR in NB patients compared with controls may offer an insight into the pathophysiology of Behcet's disease. (orig.)

  18. Magnetization transfer ratio in neuro-Behcet disease

    International Nuclear Information System (INIS)

    The aim of this study was to determine the contribution of magnetization transfer ratios (MTRs) in detecting disease in normal-appearing brain regions of patients with neuro-Behcet (NB) disease. Thirty-two patients with NB disease were assessed. Fifteen healthy volunteers were examined as the control group. Magnetic resonance (MR) imaging of the head was performed without and with magnetization transfer (MT) contrast. Signal intensity measurements were obtained from ten anatomical regions (centrum semiovale, corona radiata, internal capsule, forceps major, forceps minor, thalamus, substantia nigra pars compacta, substantia nigra pars grisea, inferior pons and middle cerebellar peduncle) in both groups. Also measured in the NB group were parenchymal lesions in the brain stem, basal ganglia and cerebral deep white matter. MTR was calculated for each measurement. Statistical analysis was performed with Mann-Whitney U and independent t-tests with computer-based SPSS 11.0 for Windows software. A Pvalue below 0.05 was considered statistically significant. The mean MTR of the parenchymal lesions in the NB group was lower than the mean MTR of the normal-appearing parenchyma in both the NB patients and the normal group. For the normal-appearing parenchyma the mean MTR in the NB group was higher than that for the controls for all regions except the corona radiata; however, the difference was statistically significant only for the thalamus. The MRI-visible parenchymal involvement of Behcet's disease causes a decrease in MTR. For the normal-appearing brain, although lacking statistical significance for the most regions studied, the tendency for higher MTR in NB patients compared with controls may offer an insight into the pathophysiology of Behcet's disease. (orig.)

  19. Aortic thrombosis in a patient with a late diagnosis of Behcet's disease

    Directory of Open Access Journals (Sweden)

    Ana Bittencourt Detanico

    2015-06-01

    Full Text Available Behcet's disease is form of systemic vasculitis of unknown etiology. One surprising feature is that arterial involvement is less common in this disease than venous forms, accounting for 1 to 7% of patients. In 7 to 30% of cases the vascular symptoms precede the clinical diagnosis of Behcet. We describe the case of a patient with Thromboangiitis Obliterans who was treated with lumbar sympathectomy and an aortobiiliac bypass. Around 1 year later he was diagnosed with Behcet's disease after presenting with oral ulcers, genital ulcers and scaling lesions on the hands.

  20. Anakinra treatment in drug-resistant Behcet's disease: a case series

    NARCIS (Netherlands)

    Cantarini, L.; Vitale, A.; Scalini, P.; Dinarello, C.A.; Rigante, D.; Franceschini, R.; Simonini, G.; Borsari, G.; Caso, F.; Lucherini, O.M.; Frediani, B.; Bertoldi, I.; Punzi, L.; Galeazzi, M.; Cimaz, R.

    2015-01-01

    The study objective was to report treatment with an interleukin (IL)-1 receptor antagonist, anakinra, in patients with multiorgan Behcet's disease (BD). Comparison of clinical manifestations, previous treatments, markers of inflammation, concomitant medications, treatment regimen modifications, rela

  1. Headache Could Be Finding of Sinus Vein Thrombosis in Behcets Patients

    OpenAIRE

    Halil Sen

    2014-01-01

    Globally Behcet%u2019s disease (BD) is most frequently seen in Turkey and takes its name from the Turkish dermatologist Hulusi Behcet. Basic findings of the disease are the triad of genital ulcers, oral ulcers and uveitis. Neurological involvement in BD appears an average of 5 years after the beginning of disease, or the first appearance of the disease may be neurological findings. Sinus vein thrombosis (SVT) is among neurological involvements observed in BD. However diagnosis of SVT is diffi...

  2. Changes in cerebral and ocular hemodynamics in Behcet's disease assessed by color-coded duplex sonography

    International Nuclear Information System (INIS)

    Aim: To quantify the cerebral and retrobulbar hemodynamics in Behcet's disease with and without ocular involvement and compared with that of healthy controls. Materials and methods: Of 51 people studied, 17 had Behcet's disease with ocular involvement, 17 had Behcet's disease without ocular involvement, and 17 were healthy controls. A single eye was examined in each patient. Peak systolic velocity (PSV), end-diastolic velocity (EDV), time-averaged maximum velocity (Tamax), and resistance index (RI) were evaluated in the ophthalmic (OA), posterior ciliary (PCA), central retinal (CRA) and middle cerebral artery (MCA). Additionally, the average blood flow velocities in the central retinal vein (CRV), and acceleration time (AT) and pulsatility index (PI) in the MCA were calculated. Results: The mean EDV in the PCA was 25% lower and RI was higher in patients with ocular involvement of BD than in patients without involvement (p = 0.006 and p = 0.005, respectively) and in healthy controls (p = 0.003 and p = 0.004, respectively). Differences were smaller in comparisons of the CRA and absent on comparisons of the OA and MCA. The acceleration time of the MCA was significantly higher in patients with Behcet's disease than in healthy controls (p = 0.03). Conclusion: This study suggests that the flow hemodynamics in retrobulbar circulation has more altered Behcet's disease with ocular involvement than without ocular involvement and healthy control. Additionally, the cerebral hemodynamic might be affected in patients with Behcet's disease compared with healthy controls

  3. [Deep dorsal penile vein thrombosis revealing Behcet's disease].

    Science.gov (United States)

    Beddouche, Ali; Ouaziz, Hicham; Zougaghi, Sinane; Alaoui, Abdelilah; Dergamoun, Hamza; El Sayegh, Hachem; Iken, Ali; Benslimane, Lounis; Nouini, Yassine

    2016-01-01

    Deep dorsal penile vein thrombosis (DDPVT)is a rare and little known urologic emergency. It requires an early etiological and symptomatic approach to preserve erectile function and prevent recurrences. This study reports a case of dorsal penile vein thrombosis revealed by spontaneous priapism that didn't resolve adequately and confirmed by penile Doppler ultrasound. After management of priapism and DDPVT, the etiological investigation revealed Behcet's disease whose diagnosis was based on the association of a major criteria, such as oral aphthous ulcers with 3 minor criteria such as: genital aphthous ulcers, ocular involvement, and a positive skin pathergy test within 24h. The patient underwent etiological treatment with good clinical evolution and preservation of erectile function. PMID:27583081

  4. Alterações psiquiátricas após corticoterapia em paciente com rara manifestação neurológica de Síndrome de Behçet e o papel da interconsulta psiquiátrica Behavior disturbances after corticotherapy in a patient with uncommom neurological manifestation of Behcet Syndrome and the role of the consultation liaison psychiatry

    Directory of Open Access Journals (Sweden)

    Amilton Santos Júnior

    2009-01-01

    Full Text Available A Interconsulta Psiquiátrica (IP trata-se do estudo da relação entre a psiquiatria e todas as outras áreas dos conhecimentos do processo saúde-doença, visando, sob uma perspectiva biopsicossocial, atender sua demanda clínica (prestação da assistência ao paciente e institucional (relacionada aos serviços. É descrito o caso de uma paciente que apresentou rara manifestação fisiopatológica da Síndrome de Behçet e que evoluiu com transtorno psiquiátrico após a instituição de terapêutica com corticoesteróides. Apesar da remissão dos sintomas mentais e comportamentais com tratamento psicofarmacológico de curta duração, a evolução do quadro demandou a reintrodução de corticoterapia, com recrudescência de quadro psiquiátrico e necessidade de instituição de tratamento de manutenção para seu manejo. Além de ilustrativo, no sentido de discutir uma rara condição clínica, o caso descrito exemplifica os benefícios da atuação conjunta e planejada entre psiquiatras e outros profissionais na assistência integral ao paciente.Consultation Liaison Psychiatry studies the relationship between psychiatry and all other areas of knowledge of the health-disease process and intends to propose solutions, under a biopsychosocial perspective, to the clinical (assistant or institutional (service-related problems. It is described the case of a patient who presented unusual pathophysiologic manifestation of the Behcet's syndrome and also developed mental disorder after the pharmacological treatment with corticosteroids. Despite the remission of mental and behavioral symptoms with psychopharmacological treatment of short duration, her clinical outcome made it need the reintroduction of corticotherapy, with recrudescence of the psychiatric disorder and the need for maintenance treatment to assure its management. Besides illustrating a rare clinical condition, the case described exemplifies the benefits of joint and planned actions

  5. Proton MRS in Behcet's disease with and without neurological findings

    Energy Technology Data Exchange (ETDEWEB)

    Baysal, T.; Sarac, K.; Dusak, A. [Department of Radiology, Inonu University School of Medicine, 44069, Malatya (Turkey); Ozisik, H.I.; Ozcan, C. [Department of Neurology, Inonu University School of Medicine, 44069, Malatya (Turkey); Karlidag, R. [Department of Psychiatry, Inonu University School of Medicine, 44069, Malatya (Turkey); Baysal, O. [Department of Physical Therapy and Rehabilitation, Inonu University School of Medicine, 44069, Malayta (Turkey); Hazneci, E. [Department of Dermatology, Inonu University School of Medicine, 44069, Malatya (Turkey)

    2003-12-01

    Our aim was to investigate whether neurological impairment in Behcet's disease (BD) can be assessed by means of proton MRS and whether it can assist in prognosis. We used single-voxel MRS to measure metabolites in regions of normal-appearing pons, basal ganglia and periventricular white matter (PWM) in 32 patients with chronic BD patients with and without neurological deficits and 29 control subjects. Patients had significantly higher N-acetylaspartate (NAA)/creatine (Cr) and choline (Cho)/Cr ratios in the basal ganglia than the controls. The Cho/Cr ratio in the PWM was also significantly higher in the patients. MRS enabled clear discrimination of patients and controls and also revealed spectral differences between non-neuro-Behcet's disease and neuro-Behcet's disease in the basal ganglia. MRS can be used to assess brain involvement in BD even if structural changes are absent. (orig.)

  6. 白塞病的肺部损害%Pulmonary involvement in Behcet disease

    Institute of Scientific and Technical Information of China (English)

    马文韬; 高金明

    2008-01-01

    Behcet disease is a chronic relapsing inflammatory disease, which involves multiple organ systems, among which recurrent oral and genital ulcers are the most typical signs. Pulmonary involvement in Behcet disease is reported to indicate poor prognosis and high mortality. The review aims to discuss the features of pulmonary problems in Behcet disease, such as clinical characteristics,analysis of prognosis, and evaluation of treatment options.%白塞病是一种以反复发作的口腔和生殖器溃疡、视力障碍为特征的多系统疾病,其中肺部损害被报道有较高的病死率和不良预后.有必要进一步探讨其相关临床表现、病理学基础、辅助检查和治疗方案,以提高对此病的认识.

  7. Chronicle of a death foretold: a case of catastrophic vascular Behcet's disease.

    Science.gov (United States)

    Planer, David; Leibowitz, David; Elitzur, Yair; Korach, Amit; Hiller, Nurith; Chajek-Shaul, Tova

    2007-03-01

    A 20-year-old man with Behcet's disease characterized by recurrent arterial aneurysms presented with a new aortic root aneurysm. This patient previously had aneurysms of the coronary arteries and vein, as well as ruptured renal artery aneurysm. Chronic maintenance immunosuppressive therapy was recommended due to the catastrophic nature of the disease, which the patient refused to take. The patient died shortly after admission. This case demonstrates the unique catastrophic natural history of vascular Behcet's disease with recurrent life-threatening arterial events, and this case stresses the therapeutic dilemma of maintenance immunosuppressive therapy in selected patients. PMID:16767354

  8. Diagnostic dilemma between intestinal Beh(c)et disease and inflammatory bowel disease with pyoderma gangrenosum

    Institute of Scientific and Technical Information of China (English)

    Cem Evereklioglu

    2006-01-01

    @@ TO THE EDITOR I have read with great interest the very recent article titled"Intestinal Beh(c)et's disease with pyoderma gangrenosum:A case report" of Nakamura T et al that was published in your journal. The authors stated that they presented a very rare case of intestinal Beh(c)et's disease with pyoderma gangrenosum in a 16-year old patient. However, I would like to make some important contributions and suggestions to the presented case and have a few questions to ask the authors.

  9. Endovascular repair for a huge vertebral artery pseudoaneurysm caused by Behcet's disease

    Institute of Scientific and Technical Information of China (English)

    DONG Zhi-hui; FU Wei-guo; GUO Da-qiao; XU Xin; CHEN Bin; JIANG Jun-hao; YANG Jue; SHI Zheng-yu; WANG Yu-qi

    2006-01-01

    @@ Behcet's disease (BD), a multisystem chronic autoimmune process of unknown etiology,usually leads to arterial impairment. Isolated case reports have described BD-related arterial dissections, pseudoaneurysms or aneurysms.1-4 Recently, we successfully treated a huge vertebral artery pseudoaneurysm (VAPA) in a patient with BD by stent-grafting with preservation of the affected vertebral artery.

  10. Is Further Examination Necessary in Patients with Behcets Disease Without Any Neurological Signs or Symptoms?

    Directory of Open Access Journals (Sweden)

    Halit YAsAR

    2015-09-01

    Conclusion: Visually evoked potential examination may be used as a conductive method to detect the subclinical neurological pathologies in Behcets disease. The possible silent neurological involvement should be evaluated with further neuro-screening methods. [Dis Mol Med 2015; 3(3.000: 29-34

  11. No association of CTLA-4 polymorphisms with susceptibility to Behcet disease

    NARCIS (Netherlands)

    Du, L.; Yang, P.; Hou, S.; Zhou, H.; Kijlstra, A.

    2009-01-01

    Background: Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is a key negative regulator of T lymphocytes and has been shown to be associated with a number of autoimmune diseases. The present study was performed to assess the association between CTLA-4 polymorphisms and Behcet disease (BD) in Ch

  12. H pylori infection in patients with Behcet's disease

    Institute of Scientific and Technical Information of China (English)

    Osman Ersoy; Reyhan Ersoy; Ozlem Yayar; Huseyin Demirci; Semih Tatlican

    2007-01-01

    AIM: To evaluate endoscopic findings and the prevalence of H pylori in patients with Behcet's disease (BD) who have upper gastrointestinal symptoms.METHODS: The patients with BD diagnosed according to the International Study Group and followed up in the Department of Dermatology and other related departments and who had any upper gastrointestinal complaints, were included in this study. Forty-five patients with BD and 40 patients in the control group were evaluated by upper gastrointestinal endoscopy and two biopsied specimens were taken during endoscopy for H pylori. A two-week triple therapy for H pylori eradication was administered to H pylori positive patients. Two months after the treatment, the patients were evaluated by urea-breath test for eradication control.RESULTS: Patients with BD had a mean age of 36.2 ± 11.4 years (18-67 years). The mean follow-up time was 35 ± 14 mo (16-84 mo). Aphthous or deep ulcer in esophagus, stomach and duodenum had never been confirmed by endoscopic examination. Most gastric lesions were gastric erosion (40%) and the most duodenal lesions were duodenitis (17.5%) in two groups.H pylori was positive in 33 patients (73.3%) with BD.The two-week triple eradication therapy was successful in 75% of the patients. There was no difference between the groups in respect to prevalence of H pylori(73.3% vs 75%, P > 0.05), and eradication rate (75% vs 70%, P > 0.05).CONCLUSION: Endoscopic findings, eradication rate and prevalence of H pylori were similar in patients with BD and control group.

  13. Diffusion-weighted imaging in chronic Behcet patients with and without neurological findings

    International Nuclear Information System (INIS)

    Our aim was to investigate whether neurological impairment in chronic Behcet's disease (BD) patients with normal appearing brain can be assessed by means of diffusion-weighted imaging (DWI). The averaged apparent diffusion coefficient (ADC) values were calculated in 22 different radiologically normal appearing brain regions in 32 patients with and without neurological findings and 20 control subjects. The ADC values in bilateral frontal, temporal and occipital normal appearing white matter were significantly higher in the patient groups compared with the control subjects (p<0.05). In these brain regions, DWI revealed differences in the ADC values between patients with neurological findings (including symptomatic and neuro-Behcet patients) and the asymptomatic patient group. The similarity of the ADC values of patients without symptoms to those of the control group allowed clear discrimination between patients with and without neurological findings. DWI may serve to assess subclinical neurological involvement in BD, even when structural changes are absent. (orig.)

  14. Diffusion-weighted imaging in chronic Behcet patients with and without neurological findings

    Energy Technology Data Exchange (ETDEWEB)

    Baysal, T.; Dogan, M.; Bulut, T.; Sarac, K. [Inonu University School of Medicine, Department of Radiology, Malatya (Turkey); Karlidag, R. [Inonu University School of Medicine, Department of Psychiatry, Malatya (Turkey); Ozisik, H.I. [Inonu University School of Medicine, Department of Neurology, Malatya (Turkey); Baysal, O. [Inonu University School of Medicine, Department of Physical Therapy and Rehabilitation, Malatya (Turkey)

    2005-06-01

    Our aim was to investigate whether neurological impairment in chronic Behcet's disease (BD) patients with normal appearing brain can be assessed by means of diffusion-weighted imaging (DWI). The averaged apparent diffusion coefficient (ADC) values were calculated in 22 different radiologically normal appearing brain regions in 32 patients with and without neurological findings and 20 control subjects. The ADC values in bilateral frontal, temporal and occipital normal appearing white matter were significantly higher in the patient groups compared with the control subjects (p<0.05). In these brain regions, DWI revealed differences in the ADC values between patients with neurological findings (including symptomatic and neuro-Behcet patients) and the asymptomatic patient group. The similarity of the ADC values of patients without symptoms to those of the control group allowed clear discrimination between patients with and without neurological findings. DWI may serve to assess subclinical neurological involvement in BD, even when structural changes are absent. (orig.)

  15. Behcet's Disease: Is There Geographical Variation? A Review Far from the Silk Road.

    Science.gov (United States)

    Leonardo, Nieves Marie; McNeil, Julian

    2015-01-01

    Behcet's Disease (BD) is a systemic vasculitis characterized by the triad of recurrent mouth and genital ulcers with eye involvement. To date there are no laboratory tests specific for the disease and diagnosis continues to remain on clinical grounds. Multiple criteria have been created as guides for diagnosis; however, given the wide spectrum of organ involvement, some cases remain undiagnosed. The diagnosis of Behcet's Disease may only be made over time as the clinical manifestations emerge sometimes separated by months and even years. With an increased recognition of this disease it has become apparent that there is geographical variation in clinical manifestations. In particular cardiac manifestations are not seen commonly in Caucasians compared to Asian and Middle Eastern patients, while neurological manifestations are more common in Caucasians. Use of immunosuppressive and immunomodulatory drugs to suppress inflammation remains the cornerstone of treatment.

  16. Lack of an association of PD-1 and its ligand genes with Behcet's disease in a Chinese Han population.

    Directory of Open Access Journals (Sweden)

    Qianli Meng

    Full Text Available BACKGROUND: Behcet's disease is a chronic, multi-systemic autoimmune disease. Programmed cell death 1 (PD-1 gene is one of non-human leucocyte antigen genes. It has been demonstrated to be associated with several autoimmune diseases. However, only a few studies have addressed the association of ligand genes of PD-1, PD-L1 and PD-L2 with autoimmune disease. The purpose of this study was to analyze the potential association of the PD-1 and its ligand genes with Behcet's disease in a Chinese Han population. METHODOLOGY/PRINCIPAL FINDINGS: Four single-nucleotide polymorphism (SNPs rs2227981 and rs10204525 of PD-1, rs1970000 of PD-L1 and rs7854303 of PD-L2 were genotyped in 405 Behcet's patients and 414 age-, sex-, ethnic-matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay. The results revealed that there were no significant differences in the genotype and allele frequencies of PD-1 rs2227981 and rs10204525 between the Behcet's patients and controls. A similar result was found for PD-L1 rs1970000 versus healthy controls. Only the C allele and the CC genotype of PD-L2 rs7854303 were identified in patients and controls. Stratification analysis based on gender and clinical findings did not show any associations between PD-1 or its ligand polymorphisms and Behcet's disease. CONCLUSIONS/SIGNIFICANCE: None of the currently studied SNPs, PD-1 rs2227981 and rs10204525, PD-L1 rs1970000 and PD-L2 rs7854303, are associated with the susceptibility to Behcet's disease in a Chinese Han population. More studies are needed to confirm these findings in Behcet's patients with other ethnic backgrounds.

  17. Subpopulations of Regulatory T Cells in Rheumatoid Arthritis, Systemic Lupus Erythematosus, and Behcet's Disease

    OpenAIRE

    KIM, JAE-RYONG; Chae, Jin-Nyeong; Kim, Sang-Hyon; Ha, Jung-Sook

    2012-01-01

    Recently, subpopulations of regulatory T (Treg) cells, resting Treg (rTreg) and activated Treg (aTreg), have been discovered. The authors investigated the relationship between the change of Treg, aTreg and rTreg and autoimmune diseases. Treg cells and those subpopulations were analyzed by using the human regulatory T cell staining kit and CD45RA surface marker for 42 rheumatoid arthritis (RA), 13 systemic lupus sclerosis (SLE), 7 Behcet's disease (BD), and 22 healthy controls. The proportion ...

  18. Diffusion-weighted MR imaging of neuro-Behcet's disease: initial and follow-up studies

    International Nuclear Information System (INIS)

    To assess the usefulness of diffusion-weighted MR imaging (DWI) and apparent diffusion coefficient (ADC) in the initial and follow-up studies of patients with neuro-Behcet's disease. Six patients diagnosed with neuro-Behcet's disease were the subjects of this study. Initial and follow-up MR imaging were obtained in all six patients. Initial and follow-up DWI were also obtained is four of the six patients, with only an initial DWI in the other two. The DWI were obtained using multi-shot echo planar imaging, on a 1.5T MR unit, with two gradient steps (b values of 0, 1000 sec/mm2). The ADC value and ADC maps were obtained using commercial software. The locations and signal intensities of the lesions were analyzed on conventional MRI and DWI, respectively. The ADC values of the lesions were calculated on the initial and follow-up DWI, and compared those of lesions in the normal contralateral regions. The initial DWI showed iso-signal intensities in four of the six patients, with high signal intensities in the other two. In five of the six patients, including three of the four that showed isosignal intensities and the two that showed high signal intensities on the initial DWI, the ADC values of the involved lesions were higher than those of the normal contralateral regions. In three of four that showed isosignal intensities, the ADC values of the lesions were decreased and normalized on the follow-up DWI. Obtaining DWI and ADC values in patients with neuro-Behcet's disease may be helpful in the understanding of pathophysiology and differential diagnosis of this disease

  19. Neuro-Behcet's disease: initial and follow-up MR imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Chan Sung; Choi, Sun Seob; Lee, Ha Jong; Ha, Dong Ho; Lee, Yong Il [Donga Medical Center, Pusan (Korea, Republic of)

    1998-09-01

    The purpose of this study was to evaluate initial and follow-up MR imaging(MRI) findings of neuro-Behcet's disease. MRI of seven clinically diagnosed cases of neuro-Behcet's disease were retrospectively analysed in terms of involved site, pattern, signal intensity, contrast enhancement pattern and changes seen on follow-up. Using a 0.35T or 1.0T unit T2-and T1-weighted spin-echocontrast-enhanced images were obtained in six patients. Follow-up MRI after steroid therapy lastion between two weeks and 16 months was performed in six patients. Lesions involved the midbrain(6/7), pons(5/7), thalamus(4/7), medulla oblongata(3/7), tegmentum(3/7), internal capsule(3/7), middle cerebellar peduncle(2/7), dentate nucleus(1/7), basal ganglia(1/7) and temporal lobe(1/7). They were 1-3cm in size, and their shape was ill-defined and patchy. Inhomogeneous high and low signal-intensity was seen on T2-weighted and T1-weighted images, respectively. In two of six cases there was focal mild patchy enhancement. Euring follow-up lasting for between two weeks and 16 months after steroid therapy, the lesions decreased in extent(n=3D5) or disappeared(n=3D1), and in the brainstem, focal brain atrophy occurred in three cases. Although MRI findings of neuro-Behcet's disease are nonspecific, common involvement of the brainstem, tegmentum and internal capsule, as well as improvement on follow-up MRI, may be helpful diagnostic indicators of this condition.=20.

  20. Endovascular Treatment for Proximal Anastomotic Pseudoaneurysm after Total Arch Replacement in Behcet's Disease.

    Science.gov (United States)

    Sakata, Tomoki; Ueda, Hideki; Watanabe, Michiko; Kohno, Hiroki; Tamura, Yusaku; Abe, Shinichiro; Inage, Yuichi; Ikeuchi, Hiroki; Kanda, Tomoyoshi; Fujii, Masahiko; Matsumiya, Goro

    2016-07-01

    A 17-year-old patient underwent total arch replacement for aortic arch aneurysm due to vascular Behcet's disease (BD). Follow-up computed tomography, performed 6 months after the operation, demonstrated pseudoaneurysm formation at the proximal anastomotic site. We performed endovascular treatment and used a short stent graft that was originally designed for abdominal aortic aneurysm. To avoid the occlusion of the coronary or brachiocephalic artery (BCA) due to stent graft migration, we used right ventricular rapid pacing and BCA ballooning. Thus, we believe that endovascular treatment can be used for anastomotic complications in the ascending aorta after open surgery for connective tissue disorders including BD. PMID:27174345

  1. Hepatic artery aneurysm in a patient with Behcet's disease and segmental pancreatitis developing after its embolization

    Energy Technology Data Exchange (ETDEWEB)

    Oto, A.; Cekirge, S.; Guelsuen, M.; Balkanci, F.; Besim, A. [Department of Radiology, Hacettepe University, Ankara (Turkey)

    2000-08-01

    Segmental pancreatitis is an unusual form of acute pancreatitis mostly seen in the head of pancreas. We present the CT findings of a segmental pancreatitis in the body and tail of the pancreas developed following endovascular embolization of a giant hepatic artery aneurysm and arterioportal fistula in a patient with Behcet's disease. (orig.)

  2. Differentiation of Behcet's disease from inflammatory bowel diseases: Anti-saccharomyces cerevisiae antibody and anti-neutrophilic cytoplasmic antibody

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    The differential diagnosis of Behcet's disease (BD) from inflammatory bowel disease (IBD) is sometimes difficult and challenging. Hereby, we suggested the utility of anti-saccharomyces cerevisiae antibody (ASCA) and anti-neutrophilic cytoplasmic antibody (p-ANCA) in the differential diagnosis of BD from IBD.

  3. Endovascular treatment of a ruptured pulmonary artery aneurysm in a patient with Behcet's disease using the amplatzer vascular plug 4

    International Nuclear Information System (INIS)

    A pulmonary artery aneurysm is a common manifestation and the leading cause of mortality in Behcet's disease. We describe a case of spontaneous rupture of a pulmonary artery aneurysm that, due to the inadequacy of medical therapy and the disadvantages of surgery, became the ideal candidate for endovascular management and was successfully performed by using the Amplatzer Vascular Plug 4.

  4. Headache Could Be Finding of Sinus Vein Thrombosis in Behcets Patients

    Directory of Open Access Journals (Sweden)

    Halil Sen

    2014-08-01

    Full Text Available Globally Behcet%u2019s disease (BD is most frequently seen in Turkey and takes its name from the Turkish dermatologist Hulusi Behcet. Basic findings of the disease are the triad of genital ulcers, oral ulcers and uveitis. Neurological involvement in BD appears an average of 5 years after the beginning of disease, or the first appearance of the disease may be neurological findings. Sinus vein thrombosis (SVT is among neurological involvements observed in BD. However diagnosis of SVT is difficult and it is a situation that may cause disability or mortality. Our case was a 24-year old female patient with diagnosed SVT who had a diagnosis of BD from 5 years. In spite of the patient frequently applying to health services, SVT diagnosis was delayed until 15 days after the initial symptoms. BD can cause SVT and SVT may cause disability or mortality but SVT may be diagnosed late, just as in our case. Therefore we present this case to increase awareness of this disease.

  5. A controlled study of reliability and validity of MRI findings in neuro-Behcet's disease

    International Nuclear Information System (INIS)

    Our aim was to test the reliability of interpreting MRI studies in neuro-Behcet's disease (NBD) and to determine the sensitivity and specificity of different MRI findings. We prospectively studied 50 patients: 24 had chronic NBD, 12 multiple sclerosis, 5 vasculitis other than Behcet's disease (BD) and 9 patients had BD without neurological involvement. MRI studies were performed according to a standard protocol with a 0.2 T imager. Two neuroradiologists, blinded to the diagnosis, age and sex of the subjects, reviewed the films independently, twice. Separate assessments were made for a set of items: dural sinus pathology, widening of ventricles and sulci, brain stem atrophy, lesions of the cerebral cortex, discrete lesions of deep white matter, basal ganglia, brain stem and cerebellum and the presence of smooth periventricular high-signal foci. Intraobserver agreement was substantial or better, and interobserver agreement moderate to substantial for most items. In these patients with chronic NBD we found low sensitivity on all assessed items. Dural sinus pathology or brain stem atrophy were highly specific, but parenchymal lesions in different sites had uniformly low specificity. (orig.). With 3 tabs

  6. Pulmonary artery aneurysm in Bechcet's disease: helical computed tomography study; Aneurisma de la arteria pulmonar en la enfermedad de Behcet. Estudio con tomografia computarizada helicoidal

    Energy Technology Data Exchange (ETDEWEB)

    Munoz, J.; Caballero, P.; Olivera, M. J.; Cajal, M. L.; Caniego, J. L. [Hospital de la Princesa. Iniversidad Autonoma. Madrid (Spain)

    2000-07-01

    Behcet's disease is a vasculitis of unknown etiology that affects arteries and veins of different sizes and can be associated with pulmonary artery aneurysms. We report the case of a patient with Behcet's disease and a pulmonary artery aneurysm who was studied by means of plain chest X ray, helical computed tomography and pulmonary arteriography. Helical computed tomography is a reliable technique for the diagnosis and follow-up of these patients. (Author) 9 refs.

  7. A case of primary biliary cirrhosis complicated by Behcet's disease and palmoplantar pustulosis

    Institute of Scientific and Technical Information of China (English)

    Haruyo Iwadate; Yukio Sato; Hiromasa Ohira; Hironobu Saito; Atsushi Takahashi; Tsuyoshi Rai; Junko Takiguchi; Tomomi Sasajima; Hiroko Kobayashi; Hiroshi Watanabe

    2006-01-01

    A 46-year-old woman was diagnosed with palmoplantar pustulosis (PPP) at the Department of Dermatology,Fukushima Medical University Hospital in 2000, and was treated with ointment. However, because liver dysfunction developed in 2003, she was referred to our department, where primary biliary cirrhosis (PBC)was also diagnosed on the basis of clinical findings.One year later, at the age of 49, she developed manifestations of Behcet's disease (BD), including erythema nodosum in the lower extremities. Because she had a history of uveitis, recurrent oral ulceration was present, and the HLA typing was positive for B51, BD was additionally diagnosed. Liver function normalized within three months of the start of treatment with ursodesoxycholic acid (UDCA). This is the first case of PBC associated with BD and PPP.

  8. Behcet's Disease

    Science.gov (United States)

    ... 25 years and access publications (since 1985) and patents resulting from NIH funding. PubMed is a free ... http://www.nidcr.nih.gov National Institute of Diabetes and Digestive and Kidney Diseases Website: http://www. ...

  9. Decreased expression of the aryl hydrocarbon receptor in ocular Behcet's disease.

    Science.gov (United States)

    Wang, Chaokui; Ye, Zi; Kijlstra, Aize; Zhou, Yan; Yang, Peizeng

    2014-01-01

    Recent studies show that the aryl hydrocarbon receptor (AhR) is involved in immune responses. AhR is activated following interaction with its ligands, such as 6-formylindolo[3,2-b]carbazole (FICZ) and 2-(1'H-indole-3'-carbonyl)-thiazole-4-carboxylic acid methyl ester (ITE). In this study, we investigated the role of AhR activation by its endogenous ligands in the pathogenesis of ocular Behcet's disease (BD). The expression of AhR was significantly decreased in active BD patients as compared to inactive BD patients and normal controls. Both FICZ and ITE inhibited Th1 and Th17 polarization and induced the expression of IL-22 by PBMCs and by CD4(+)T cells in active BD patients and normal controls. Stimulation of purified CD4(+)T cells with FICZ or ITE caused a decreased expression of RORC, IL-17, IL-23R, and CCR6 and an increased phosphorylation of STAT3 and STAT5. The present study suggests that a decreased AhR expression is associated with disease activity in BD patients. The activation of AhR by either FICZ or ITE was able to inhibit Th1 and Th17 cell polarization. Further studies are needed to investigate whether modulation of AhR might be used in the treatment of BD.

  10. A Comparative Metabolomic Evaluation of Behcet's Disease with Arthritis and Seronegative Arthritis Using Synovial Fluid.

    Directory of Open Access Journals (Sweden)

    Joong Kyong Ahn

    Full Text Available Behcet's disease (BD with arthritis is often confused with seronegative arthritis (SNA because of shared clinical symptoms and the lack of definitive biomarkers for BD. To investigate possible metabolic patterns and potential biomarkers of BD with arthritis, metabolomic profiling of synovial fluid (SF from 6 patients with BD with arthritis and 18 patients with SNA was performed using gas chromatography/time-of-flight mass spectrometry in conjunction with univariate and multivariate statistical analyses. A total of 123 metabolites were identified from samples. Orthogonal partial least square-discriminant analysis showed clear discrimination between BD with arthritis and SNA. A set of 11 metabolites were identified as potential biomarkers for BD using variable importance for projection values and the Wilcoxon-Mann-Whitney test. Compared with SNA, BD with arthritis exhibited relatively high levels of glutamate, valine, citramalate, leucine, methionine sulfoxide, glycerate, phosphate, lysine, isoleucine, urea, and citrulline. There were two markers identified, elevated methionine sulfoxide and citrulline, that were associated with increased oxidative stress, providing a potential link to BD-associated neutrophil hyperactivity. Glutamate, citramalate, and valine were selected and validated as putative biomarkers for BD with arthritis (sensitivity, 100%; specificity, 61.1%. This is the first report to present potential biomarkers from SF for discriminating BD with arthritis from SNA. The metabolomics of SF may be helpful in searching for potential biomarkers and elucidating the clinicopathogenesis of BD with arthritis.

  11. A panel of oxidative stress assays does not provide supplementary diagnostic information in Behcet's disease patients

    Directory of Open Access Journals (Sweden)

    Akcay Yasemin D

    2012-04-01

    Full Text Available Abstract Background Recent findings suggest a role of oxidative stress in the pathogenesis of Behcet's disease (BD, but the utility of oxidative stress-associated assays in offering diagnostic information or in the monitoring of disease activity is largely unassessed. Objective and methods We aimed to measure oxidative and inflammatory markers, along with the markers of reactive nitrogen species, S-nitrosothiols and 3-nitrotyrosine, in BD patients (n = 100 and healthy volunteers (n = 50. These markers were evaluated in regard to their role in the pathogenesis of BD as well as their relation to clinical presentation, disease activity and duration. Results Median values for erythrocyte sedimentation rate (ESR, C-reactive protein, leukocyte count, and IL-18 levels, as well as myeloperoxidase (MPO activity, were statistically higher in the patient group compared to controls. Some inflammation markers (ESR, neutrophil and leukocyte counts were statistically higher (p 0.05 in all statistical comparisons, nor was there any difference in median levels of these oxidative stress markers in active disease versus disease remission. S-nitrosothiols and 3-nitrotyrosine were undetectable in BD plasma. Conclusions The application of oxidative stress-associated measures to BD blood samples offered no supplemental diagnostic or disease activity information to that provided by standard laboratory measures of inflammation. S-nitrosothiols and 3-nitrotyrosine appeared not to be markers for active BD; thus the search for biochemical markers that will indicate the active period should be continued with larger studies.

  12. Successful Renal Transplantation in a Patient with Behcet Disease and Hodgkin Lymphoma in Remission

    Directory of Open Access Journals (Sweden)

    Vural Taner YILMAZ

    2011-05-01

    Full Text Available Behcet's disease (BD is an inflammatory multisystemic disease characterized by perivascular inflammation and generally presents with recurrent oral and genital ulcers and uveitis. It is known that BD may also involve the kidneys. Amyloidosis, glomerulonephritis (crescentic, proliferative, IgA nephropathy, interstitial nephritis are commonly described renal lesions which may lead to end-stage renal disease (ESRD in BD. Immunosuppressive therapies used for the treatment of BD may cause malignant diseases (lymphoma, skin and solid organ malignancies, etc. The risk with azathioprin is especially high after 10 years of treatment. Cyclosporine, another immunosuppressive agent frequently used for treatment of BD, also has tumorigenic potential and is associated with renal toxicity and renal failure. Renal transplantation may be performed in patients with malignancies after a 2-5 year complete remission period, although it may differ according to the type of tumor. We report a case of end-stage renal disease and Hodgkin's lymphoma occurring after treatment with immunosuppressive medicine for BD. The patient was successfully treated with renal transplantation.

  13. Serum level of IL13 and expression of BCL2 in Behcet's disease

    Directory of Open Access Journals (Sweden)

    Hanan.M.A Darwish*, Sabila Gomaa Mousa** Noha Hamdy

    2006-09-01

    Full Text Available Background BD: BCL2 family is a large family of apoptosis regulating proteins consisting of both blockers and promoters of cell death. Immunological processes and a variety of cytokines may play a role in pathophysiological process. Defective regulation of programmed cell death (apoptosis also play a role in development of Behcet's disease Objective: To investigate the level of BCL2 and IL13in BD and to determine their to relation monitory disease activity. Patients and methods: This study was conducted on thirty patients (15 active and 15 inactive and 15-health control, the activity of BD was evaluated according to international study group for BD disease, using ELISA technique for IL 13 and flow cytometry forBCL2. Results: Elevated serum levels of IL13 in patient with active BD than inactive and both had elevated levels than control(P< 0.01 and also the serum levels of Bcl2 was elevated in patient with active BD than inactive and control(P< 0.01. Concolusion: The data suggested that IL13 and BCL2 could be involved in the pathogenesis of BD and its serum levels can be used as marker to monitor disease activity.

  14. Comparison of Behcet's disease and recurrent aphthous ulcer according to characteristics of gastrointestinal symptoms.

    Science.gov (United States)

    Rhee, Seung-Ho; Kim, Young-Bae; Lee, Eun-So

    2005-12-01

    Behcet's disease (BD) is a multisystemic chronic inflammatory disease. It is characterized by recurrent oral and genital ulcers, uveitis, skin lesions and other manifestations, including neurologic, vascular, joint, and gastrointestinal ulcers of variable severity. Recurrent aphthous ulcer (RAU) represents a very common, but poorly understood, mucosal disorder. If a patient of RAU without any other typical symptoms of BD has gastrointestinal symptoms, it is difficult to distinguish this RAU from true BD with gastrointestinal involvement. Because pathognomonic clinical features and tools are absent, the differential diagnosis of these two diseases relies on the characteristic clinical features and the judgement of an experienced physician. Sixty-five out of a total 960 RAU patients and forty-four of 556 BD patients with gastrointestinal symptoms between January 1996 and December 2003 participated in this study. All were evaluated with esophagogastroduodenoscopy and colonoscopy. Clinical, endoscopic and histopathologic findings were analyzed and ELISA tests were conducted to detect serum levels of ASCA and pANCA. No significant difference was found between the two groups. Differential diagnosis between RAU with gastrointestinal symptoms and BD with gastrointestinal involvement requires further prospective, large-scale study. PMID:16361807

  15. Diffusion-weighted MR imaging of neuro-Behcet's disease: initial and follow-up studies

    Energy Technology Data Exchange (ETDEWEB)

    Heo, Suk Hee; Seo, Jeong Jin; Kim, Heung Joong; Chang, Nam Gyu; Shin, Sang Soo; Jeong, Yong Yeon; Jeong Gwang Woo; Kang, Heoung Keun [Chonnam National University, Gwangju (Korea, Republic of)

    2005-09-15

    To assess the usefulness of diffusion-weighted MR imaging (DWI) and apparent diffusion coefficient (ADC) in the initial and follow-up studies of patients with neuro-Behcet's disease. Six patients diagnosed with neuro-Behcet's disease were the subjects of this study. Initial and follow-up MR imaging were obtained in all six patients. Initial and follow-up DWI were also obtained is four of the six patients, with only an initial DWI in the other two. The DWI were obtained using multi-shot echo planar imaging, on a 1.5T MR unit, with two gradient steps (b values of 0, 1000 sec/mm{sup 2}). The ADC value and ADC maps were obtained using commercial software. The locations and signal intensities of the lesions were analyzed on conventional MRI and DWI, respectively. The ADC values of the lesions were calculated on the initial and follow-up DWI, and compared those of lesions in the normal contralateral regions. The initial DWI showed iso-signal intensities in four of the six patients, with high signal intensities in the other two. In five of the six patients, including three of the four that showed isosignal intensities and the two that showed high signal intensities on the initial DWI, the ADC values of the involved lesions were higher than those of the normal contralateral regions. In three of four that showed isosignal intensities, the ADC values of the lesions were decreased and normalized on the follow-up DWI. Obtaining DWI and ADC values in patients with neuro-Behcet's disease may be helpful in the understanding of pathophysiology and differential diagnosis of this disease.

  16. Inspiratory and expiratory HRCT findings in Behcet's disease and correlation with pulmonary function tests

    Energy Technology Data Exchange (ETDEWEB)

    Oezer, Caner [Department of Radiology, Mersin University, Faculty of Medicine, Mersin (Turkey)]. E-mail: cozer@mersin.edu.tr; Duce, Meltem Nass [Department of Radiology, Mersin University, Faculty of Medicine, Mersin (Turkey); Ulubas, Bahar [Department of Respiratory Disease, Mersin University, Faculty of Medicine, Mersin (Turkey); Bicer, Ali [Department of Physical Medicine and Rehabilitation, Mersin University, Faculty of Medicine, Mersin (Turkey); Tuersen, Uemit [Department of Dermatology, Mersin University, Faculty of Medicine, Mersin (Turkey); Apaydin, F. Demir [Department of Radiology, Mersin University, Faculty of Medicine, Mersin (Turkey); Yildiz, Altan [Department of Radiology, Mersin University, Faculty of Medicine, Mersin (Turkey); Camdeviren, Handan [Department of Biostatistics, Mersin University, Faculty of Medicine, Mersin (Turkey)

    2005-10-01

    Purpose: The purpose of our study was to describe the pulmonary parenchymal changes of Behcet's disease using high-resolution computed tomography and to correlate them with pulmonary function tests. Materials and methods: Thirty-four patients with Behcet's disease (18 men, 16 women), 3 of whom were symptomatic, were included as the study group. Four of 34 patients were smokers. Twenty asymptomatic volunteers (12 men, 8 women), 4 of whom were smokers, constituted the control group. The pulmonary function tests and high-resolution computed tomography were performed for both groups. Results: Inspiratory high-resolution computed tomography findings were abnormal in nine patients (26.5%) of the study group. In eight patients, there were multiple abnormalities, whereas one patient had only one abnormality. Pleural thickening and irregularities, major fissure thickening, emphysematous changes, bronchiectasis, parenchymal bands, and irregular densities, and parenchymal nodules were the encountered abnormalities. Inspiratory high-resolution computed tomography scans were normal in the control group. On expiratory scans, there was statistically significant difference between study group and control group when air trapping, especially grades 3 and 4, was compared (P < 0.01). Pulmonary function tests of both the study and the control groups were in normal ranges, and there was no statistically significant difference between the two groups according to pulmonary function tests (P > 0.05). Discussion and conclusion: High-resolution computed tomography is sensitive in the demonstration of pulmonary changes in patients with Behcet's disease. End-expiratory high-resolution computed tomography examination is very useful and necessary to show the presence of air trapping, thus the presence of small airway disease, even if the patient is asymptomatic or has normal pulmonary function tests.

  17. Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome complicated by aneurysmal aortitis.

    Science.gov (United States)

    Ng, Chin Soon; Hogan, Patrick; McKenzie, Scott; Gibbs, Harry; Strutton, Geoff; Wong, Richard

    2007-08-01

    "MAGIC syndrome" (Mouth And Genital ulcers with Inflamed Cartilage) has been proposed to describe patients with clinical features of both relapsing polychondritis and Behcet disease. A total of 18 cases have been reported with only 1 case associated with aneurysmal aortitis described in 1997. Herein, we describe a patient with MAGIC syndrome complicated by aneurysmal aortitis requiring cardiothoracic surgery and intensive immunosuppression. Monitoring for the possible development of inflammatory aortic aneurysms should thus be considered in patients with MAGIC syndrome who have persistently elevated serum inflammatory markers. If an aortic aneurysm is detected, cardiothoracic surgical referral is necessary, close monitoring for enlargement is mandatory, and intensification of immunosuppressive therapy should be considered.

  18. Association between Functional MICA-TM and Behcet's Disease: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    Zhang, Jun; Liao, Dan; Yang, Lu; Hou, Shengping

    2016-01-01

    The relationships between polymorphisms of the trans-membrane(TM) region located in the major histocompatibility complex (MHC) class I chain-related gene A (MICA) and Behcet's disease (BD) have been discussed previously, however, the results were contradictory. In this study, we thoroughly assess whether MICA-TM gene variants are associated with BD by means of a systematic review and meta-analysis. Our study focused on the effects of polymorphisms of MICA-A4, A5, A5.1, A6, and A9 from the included articles. Sixteen previous original publications representing 1,555 BD patients and 2,086 unrelated healthy controls analyzed the association of BD with MICA-TM gene polymorphisms. For the five alleles, MICA-A6 showed a strongly positive correlation with BD patients and could be viewed as an increased risk factor of BD (OR = 2.34, 95%CI: 2.02-2.70). Furthermore, MICA-A4, A5, A5.1, and A9 exhibited negative associations with BD (OR = 0.71, 95%CI: 0.58-0.86; OR = 0.75, 95%CI: 0.63-0.90; OR = 0.63, 95%CI: 0.44-0.91; OR = 0.70, 95%CI: 0.58-0.84, respectively). Our meta-analysis confirmed MICA-A6 could be responsible for BD in three ethnic regions and should probably be treated as a risk factor for BD. MICA-A4, A5, A5.1, and A9 could be regarded as protective factors, especially in the Middle East and East Asia.

  19. Putative Role of Serum Amyloid-A and Proinflammatory Cytokines as Biomarkers for Behcet's Disease

    Science.gov (United States)

    Lopalco, Giuseppe; Lucherini, Orso Maria; Vitale, Antonio; Talarico, Rosaria; Lopalco, Antonio; Galeazzi, Mauro; Lapadula, Giovanni; Cantarini, Luca; Iannone, Florenzo

    2015-01-01

    Abstract Behcet's disease (BD) is a multisystemic disorder of unknown etiology characterized by relapsing oral–genital ulcers, uveitis, and involvement of vascular, gastrointestinal, neurological, and musculoskeletal system. Although disease pathogenesis is still unclear, both innate and adaptive immunity have shown to play a pivotal role, and multiple proinflammatory cytokines seem to be involved in different pathogenic pathways that eventually lead to tissue damage. The aims of our study were to evaluate serum cytokines levels of IL-8, IL-18, IFN-α2a, IL-6, IFN-γ, CXCL10, CXCL11, CXCL9, and SAA levels in patients with BD, in comparison to healthy controls (HC), and to correlate their levels to disease activity. We included 78 serum samples obtained from 58 BD patients and analyzed a set of proinflammatory cytokines including IL-8, IL-18, IFN-α2a, IL-6, IFN-γ, CXCL10, CXCL11, and CXCL9 by multiplex bead analysis as well as SAA by enzyme-linked immunosorbent assay. Compared to HC, BD patients showed elevated cytokine levels of IL-8, IL-18, IFN-α2a, and IL-6, and low levels of CXCL11. BD patients with SAA serum levels >20 mg/L showed higher levels of proinflammatory markers than HC or group with SAA ≤20 mg/L. IL-18, IFN-α2a, and IL-6 were higher in BD group with SAA >20 mg/L than HC, while IL-8 and CXCL9 levels were higher than in patients with SAA ≤20 mg/L and HC. Active BD patients with SAA >20 mg/L exhibited elevated levels of inflammatory mediators, suggesting that may exist a relationship between SAA and proinflammatory cytokines in the intricate scenario of BD pathogenesis. PMID:26496336

  20. Remission of Behcet's disease with anti-tumor necrosis factor monoclonal antibody therapy: a case report

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    Castagna Irene

    2003-08-01

    Full Text Available Abstract Background Behcet's disease (BD is a chronic relapsing multisystem inflammatory disorder with mucocutaneous, ocular, articular, vascular, gastrointestinal and central nervous system manifestations. Tumor necrosis factor (TNF-alpha is believed to play a pivotal role in BD. Therapeutic blockade of the activity of TNF has been successfully given in a short course of therapy with favorable effects in patients with BD refractory to conventional immunosuppressive drugs. We aimed to find out whether a 12-month treatment with infliximab, a chimeric monoclonal antibody to TNF-alpha, had any beneficial effect in reducing relapses of a patient with long-standing BD refractory to conventional immunosuppressive drugs. Case presentation A 54 year-old-woman with a 35-year history of BD with orogenital ulcerations, arthritis in the right knee and retinal lesions compatible with vasculitis received infliximab, 5 mg/kg by a two-hour intravenous infusion. Symptoms improved within 24 hours and eight days later the genital and oral ulcers healed as well as the arthritis in the right knee subsided. The retinal infiltrates completely resolved within 10 days. The infusions were repeated at weeks 2, 6, 14, 22 and then every 8 weeks. The patient was able to return to her domestic daily life. No exacerbation of the mucocutaneous ocular or arthritic symptoms occurred during the treatment period. Conclusions Previous studies have suggested that infliximab given in a short course of treatment is effective in inducing remission of severe mucocutaneous, gastrointestinal and ocular manifestations of BD. Our patient received a 12-month infliximab treatment showing a favorable effect on remission of BD manifestations. The long-term infliximab treatment appears as a new therapeutic option for patients with active BD who failed to respond to conventional immunosuppressive agents.

  1. Assessment of alveolar epithelial permeability in Behcet's disease with 99mTc-DTPA aerosol scintigraphy

    International Nuclear Information System (INIS)

    Behcet's disease (BD) is a multisystem disorder characterized by vasculitis, and consists of a triad of recurrent ulcers of the oral and genital mucosa with relapsing uveitis. The prevalance of pulmonary involvement varies in the range of 1-10% in various studies and its complications are severe and life threatening. In this study, we investigated the changes of pulmonary epithelial permeability of patients with BD using technetium-99m diethylene triamine penta-acetic acid (99mTc-DTPA) aerosol scintigraphy, so as to begin the therapy regimen as soon as possible. Twenty-one nonsmoking patients with BD (8 women, 13 men; mean age 38.67±8.86 years) and 15 healthy volunteer nonsmoking controls (8 women, 7 men; mean age 50.87±12.45 years) underwent 99mTc-DTPA aerosol inhalation scintigraphy and pulmonary function tests (PFTs). Subjects inhaled 1480 MBq of 99mTc-DTPA for 4 min in the supine position. Scintigraphic data were recorded dynamically (1 frame/min) in the posterior projection on a 64 x 64 matrix for a 30-min period using a double-headed gamma camera (Infinia, GE, Tirat Hacarmel, Israel) equipped with a low-energy all-purpose parallel hole collimator. Half time of 99mTc-DTPA clearance (T1/2) was calculated by placing a mono-exponential fit on the curves. Penetration index (PI) was also calculated by dividing the peripheral total counts by the sum of the peripheral and central total counts on the first minute image, in order to quantify the distribution of the inhaled aerosol. The clearance half time of 99mTc-DTPA radioaerosols in the BD patients (24.81±6.22 min) was faster than in the normal control group (46.53±22.41 min) (P=0.004). There was also a significant difference between PI of the patients with BD (0.15±0.03) and that of the controls (0.21±0.06) (P=0.002). No correlation was found between the mean T1/2 values of 99mTc-DTPA clearance or the spirometric measurements in the BD patients. Penetration indices were not correlated with PET in the BD

  2. Behcet's disease with neurological involvement: a case report%伴有神经系统症状的白塞病1例

    Institute of Scientific and Technical Information of China (English)

    陈威; 王恩普; 田青; 王华

    2007-01-01

    白塞病是一种慢性、系统性疾病.其特征为复发性口腔、生殖器溃疡,眼部炎症同时伴有皮肤、关节的异常.病程中偶可见神经系统受累.我们报告1例病程中出现神经系统症状的白塞病的患者病例.白塞病有可能被误诊为神经系统肿瘤.%Behcet's Disease is a chronic systemic disorder characterized by recurrent oral and genital ulcerations, ocular inflammation, having manifestations related to skin and joints. Neurologic signs can also be observed seldomly during the course of the disease. In this report a case of Behcet's disease with neurological involvement was presented.

  3. The ICAM-1 469 T/C gene polymorphism but not 241 G/A is associated with Behcets disease in the Lebanese population

    International Nuclear Information System (INIS)

    To investigate the association of the 2 intracellular adhesion molecules-1 (ICAM-1) gene polymorphisms [thymidine/cytidine (T/C) 469 and guanosine/adenosine (G/A) 241] in Behcets disease in Lebanon. We initiated the study in July 2003, and carried out the work in the research laboratory of Beirut Arab University, Beirut, Lebanon. We extracted the DNA by glass fiber matrix mini column. We amplified the ICAM gene by polymerase chain reaction (PCR) and tested the PCR products for the presence of the polymorphisms using a restriction enzyme specific for each ----- +polymorphism. We analyzed the results by agarose electrophoresis. We demonstrated the association of only one single nucleotide polymorphism (SNP) (K469) with Behcets disease, while we could not detect the other SNP (G241A) in either controls or patients in the Lebanese population. The ICAM-1 gene polymorphism 469 T/C, but not 241 G/A, may encode risk for Behcets disease in the Lebanese population. (author)

  4. Efficacy of TNF-α antagonist and other immunomodulators in the treatment of patients with ophthalmologic manifestations of Behcet's disease and HLA B51 positive vasculitis

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    Zlatanović Gordana

    2012-01-01

    Full Text Available Bacground/Aim. Behcet's disease is genetically conditioned, immune-mediated multisystem occlusive vasculitis of small blood vessels, espesially venules, of unknown etiology. The aim of this study was to analyze the clinical features, disease activity and therapy of the patients with ophthalmologic manifestation of Behcet's disease. Methods. In this study symptoms and signs of the disease were analyzed both prospectively and retrospectively during the active manifestation of the disease. The diagnosis was reached according to the International Criteria for Behcet's Disease (2006. The treatment effects were evaluated based on the presence of the best corrected visual acuity and the inflammation of the vitreous humour before and after the application of our therapeutic method. The applied therapeutic modality consisted of the primary application of corticosteroid therapy in the active stage of the disease complemented with the choice of drugs from the immunosuppressive group. In this study there drugs were cyclosporine or methotrexate. A treatment refractory patients with poor vision prognosis were treated with a third drug, the biological preparation infliximab, a tumor necrosis factor-alpha (TNF-α antagonist. Results. The mean age of 11 patients with ophthalmologic manifestation of Behcet's disease was 50.6 years. HLA B-5(51 was positive in 81% of the patients while 36% of the patients had positive pathergy test. Changes in affected eyes included vitritis (100%, posterior uveitis (45%, panuveitis (54%, retinal vasculitis (54%, cystoid macular edema (54%, and cystoid degeneration (18%. Increased intraocular pressure was observed in 27% of the patients. There was no statistically significant variation in disease activity parameters in any of the patients (p > 0.05. A statistically significant improvement in visual acuity (p < 0.05 and a high statistically significant decrease of inflammation of the worst affected eyes (p = 0.001 were detected

  5. 18例白塞病的临床治疗分析%Clinical Treatment of 18 Cases With Behcet's Disease

    Institute of Scientific and Technical Information of China (English)

    王鹤辉

    2015-01-01

    目的:探讨白塞病的临床治疗特点及方法。方法对18例白塞病患者临床治疗方法资料进行分析。结果白塞病患者临床症状损害,1~3周内好转16例,反复发作住院2例。结论沙利度胺对治疗生殖器溃疡有效,显效率高达80%。患者对沙利度胺的耐受性较好,不良反应出现少且并不严重,减量或停药后即可缓解。因此对于BD患者,特别是难治型患者,沙利度胺可作为重要的辅助药物。%Objective To investigate the clinical characteristics and methods of Behcet's disease.Methods18 cases of behcet's disease clinical treatment were analyzed.ResultsThe clinical symptoms of Behcet's disease damage,1 to 3 weeks significantly improved in 16 cases,2 cases of recurrent hospitalizations. ConclusionThalidomide for the treatment of genital ulcer effective,significant efficiency up to 80%. Thalidomide patients tolerated,adverse reactions and not less serious,can be aleviated after the reduction or withdrawal. So for BD patients,particularly refractory patients,thalidomide can be used as an important adjunct.

  6. Acometimento pulmonar na doença de Behçet: uma boa experiência com o uso de imunossupressores Pulmonary involvement in Behcet's disease: a positive single-center experience with the use of immunosuppressive therapy

    Directory of Open Access Journals (Sweden)

    Alfredo Nicodemos Cruz Santana

    2008-06-01

    Full Text Available OBJETIVO: A doença de Behçet (DB representa uma patologia sistêmica, cuja sobrevida se relaciona com a presença de acometimento pulmonar. Entretanto, sugere-se que pacientes com diferentes tratamentos podem apresentar diferentes prognósticos. O objetivo deste estudo foi avaliar a evolução clínica e tomográfica, bem como a sobrevida deste pacientes com acometimento pulmonar relacionado à DB acompanhados em nosso serviço. MÉTODOS: Uma análise retrospectiva de nossa experiência com pacientes com acometimento pulmonar relaionado a DB acompanhados de 1 de Janeiro de 1988 a 30 de Abril de 2006. Os dados clínicos, radiológicos, terapêuticos e de sobrevida foram obtidos dos prontuários médicos. RESULTADOS: Foram identificados 9 pacientes, com idade média de 34 ± 11,5 anos, sendo 7 deles do sexo masculino. Os achados radiológicos foram aneurisma de artéria pulmonar (AAP em 8 pacientes, embolia pulmonar em 3 (resultando em uma incidencia de 5,11 casos/100 paciente-anos, hemorragia alveolar em 1 e hipertensão pulmonar em 1 de 9 doentes. O tratamento consistiu-se de prednisona mais clorambucil (ou ciclofosfamida ou micofenolato de mofetil em todos os 9 pacientes, com resolução total ou parcial dos AAP. O paciente com AAP e hipertensão pulmonar também recebeu sildenafil e warfarina, com boa resposta clínica e tomográfica. A sobrevida de nossos pacientes foi de 88,8% em 3 e 5 anos, com acompanhamento médio de 6,52 anos. CONCLUSÕES: Pacientes com acometimento pulmonar relacionado à DB podem apresentar boa sobrevida com tratamento imunossupressor, e a DB deve ser lembrada como uma possível causa de hipertensão pulmonar e hemorragia alveolar.OBJECTIVE: Behcet's syndrome, or Behcet's disease (BD, is a multisystem pathology, and survival is related to pulmonary involvement. However, it appears that different treatments correlate with different prognoses. The aim of this study was to evaluate clinical and tomographic evolution, as

  7. Masked assessment of MRI findings: is it possible to differentiate neuro-Behcet`s disease from other central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Coban, O.; Bahar, S.; Akman-Demir, G.; Tasci, B.; Serdaroglu, P. [Univ. of Istanbul (Turkey). Dept. of Neurology; Yurdakul, S.; Yazici, H. [Univ. of Istanbul (Turkey). Dept. of Internal Medicine

    1999-04-01

    Two neuroradiologists reviewed MRI studies of 34 patients with neuro-Behcet`s disease (NBD), 22 with multiple sclerosis (MS) and 7 with systemic lupus erythematosus (SLE) with central nervous system involvement, masked to the clinical diagnosis, age and sex of the patients. Of the patients with NBD 12 were in an acute attack; the others had chronic disease. MRI was assessed using a set of criteria, looking at atrophy, the site of discrete parenchymal lesions, regions of predominant involvement and the extent of the lesion(s). The observers also made a guess at the clinical diagnosis. The brain stem and/or basal ganglia were the most predominantly involved sites in all patients with acute NBD; 75 % of these lesions were large and confluent, mainly extending from the brain stem to the diencephalon and basal ganglia. However, in chronic cases, the predominant involvement was in the brain stem and/or basal ganglia in only 36 %, and in cerebral hemisphere white matter in another 36 %; 27 % of these patients showed no parenchymal lesion. Hemisphere white-matter lesions were equally distributed between periventricular and other areas in NBD, while in MS more were periventricular, and in SLE more were nonperiventricular. Brain-stem atrophy was seen in 21 % of patients with NBD, with a specificity of 96.5 %. In the absence of cortical atrophy, its specificity was 100 %. The attempt at making a radiological diagnosis was successful in all cases of acute NBD and 95.5 % of patients with MS, but in only 40 % of patients with chronic NBD. Most of this latter groups MRI studies were interpreted as MS. An extensive lesion involving the brain stem and basal ganglia seemed to be diagnostic of acute NBD. However, hemisphere white-matter lesions could not be differentiated from those in MS. (orig.) With 3 figs., 6 tabs., 18 refs.

  8. 白塞病误诊为化脓性扁桃体炎1例并文献复习%One case of Beh(c)et's disease misdiagnosed as suppurative tonsillitis and literature review

    Institute of Scientific and Technical Information of China (English)

    吴茱萸; 李耀军

    2015-01-01

    Objective To better understand the clinical features of Beh(c)et's disease and reduce misdiagnosis.Methods The clinical data of one case of Beh(c)et's disease misdiagnosed as acute suppurative tonsillitis at our department recently were retrospectively analyzed.Results The first manifestation of Beh(c)et's disease varied.The first manifestations of this patient were fever and purulent tonsils.Antibiotic treatment got no effect.During the course,genital ulcers occurred.Line prick test was positive.Therefore,it was diagnosed Beh(c)et's disease.The patient was cured by hormones and immunosuppressive agents.Conclusions The first manifestation of Beh(c)et's disease varies;when fever and purulent tonsils are first symptoms and antibiotic therapy is not effective,Beh(c)et's disease should be considered.%目的 提高对白塞病临床特点的认识,减少误诊.方法 对我科近期误诊为急性化脓性扁桃体炎最终确诊为白塞病的1例患者的临床资料进行回顾性分析.结果 白塞病的首发表现各异,本例患者以发热、扁桃体化脓为首发症状,抗生素治疗无效,病程中出现外阴溃疡,行针刺试验阳性,诊断为白塞病,经激素及免疫抑制剂治疗好转.结论 白塞病的首发表现各异,当出现以发热、扁桃体化脓为首发症状,抗生素治疗无效时,应考虑到白塞病的可能.

  9. Clinical Analysis of a Case of Neuro-Behcet's Disease%神经贝赫切特病一例临床分析

    Institute of Scientific and Technical Information of China (English)

    张晓刚; 朱建君; 李振彬

    2011-01-01

    Objective To explore the characteristics of Neuro-Behcet's diease (NBD) and to improve knowledge about the disease. Methods The clinical data of one case with NBD was analyzed retrospectively. The patient had a chief complaint of recurrent oral and genital ulcers for more than 8 years, unclear vision for 2 weeks and aphasia for 3 days. The diagnosis of Behcet's disease (BD) was made. There was some improvement after treatment with frequent relapses. Two weeks ago the patient showed symptoms of unclear vision with a fever( 39℃ ), headache, giddy, delirium and bucking, first misdiagnozed as brain stem lacunar infarction by CT, but later diagnosed as NBD by further related examination and was given intravenous drip of methylprednisolone and oral thalidomide. Results The brain MRI indicated that the focus of infection was obviously reduced when the clinical symptoms improved after treatment. The patient was followed up but was in a stable condition. Conclusion NBD has a higher mortality rate than NB. Early diagnosis and promptly exactitude therapy can obviously increase recovery rates and relieve symptoms, improve life quality and survival rate.%目的 探讨神经贝赫切特病(neuro-Behcet's disease,NBD)的临床特点,以提高对该病的认识.方法 对1例NBD患者的临床资料进行分析.患者因反复口腔及外阴溃疡8年余,视物不清2周,言语不利3 d入院.曾诊断为贝赫切特病(Behcet's disease,BD),给予相应治疗,病情逐渐好转,但反复发作.2周前患者出现视物不清,伴发热、谵语、头痛、头晕,体温最高达39℃,渐出现言语不利,伴轻度呛咳.头颅CT检查可疑脑干腔隙性脑梗死,进一步完善相关检查诊断为NBD.给予甲泼尼龙琥珀酸钠、沙利度胺治疗.结果 患者病情好转,出院.定期来院复诊,复查头颅MRI示病变较前明显缩小,部分病变软化.目前患者病情稳定,仍在随访中.结论 NBD病死率较无神经系统并发症的BD高.早期诊断,及

  10. [Serial episodes of gastric and cecal perforation in a patient with Behcet's disease involving the whole gastrointestinal tract: a case report].

    Science.gov (United States)

    Shin, Dong Yeob; Cheon, Jae Hee; Park, Jae Jun; Kim, Hoguen; Kim, Tae Il; Lee, Yong Chan; Kim, Nam Kyu; Kim, Won Ho

    2009-02-01

    Behcet's disease (BD) has been recognized as multi-systemic chronic vasculitic disorder of recurrent inflammation, characterized by the involvement of multiple organs and resulting in orogenital ulcers, uveitis, and skin lesions. Involvement of the central nervous system, vessels, and intestines in BD often leads to a poor prognosis. Digestive manifestations in BD have been reported in up to 1-60% of cases, although the rate varies in different countries. The most frequent extra-oral sites of gastrointestinal involvement are the ileocecal region and the colon. Gastric or esophageal involvement is reported to be very rare. Moreover, there have been no reports on the simultaneous involvement of the esophagus, stomach, ileum, and colon. Here, we present a 55-year-old Korean man with intestinal BD and multiple ileal and colonic ulcerations complicated by perforation, gastric ulcer with bleeding followed by perforation, and esophageal ulcers with bleeding.

  11. 肠白塞病36例临床特点分析%Clinical features analysis of 36 cases of intestinal Behcet's disease

    Institute of Scientific and Technical Information of China (English)

    李文文; 项平; 管剑龙; 季大年; 王青青; 保志军

    2015-01-01

    Objective To improve the knowledge of intestinal Behcet's disease.Methods From October 2012 to January 2014,36 patients with intestinal Behcet's disease were collected.The general information of the patients,manifestation of Behcet's disease,digestive symptoms,lab findings,imaging findings,endoscopic examination results,treatment and prognosis of Behcet's disease were analyzed.Chi square test and Fisher exact probability test were performed for count data analysis.Single factor and multi factors of efficacy were analyzed by Logistic regression analysis.Results Among 36 patients with Behcet's disease (male 19 and female 17),the mean onset age was 26.5 years old and the average course of disease was (8.2±6.8) years.Symptoms of digestive system of 91.7% (33/36) patients showed up later than system manifestations of Behcet's disease appeared.All 36 patients had oral ulcer.The rates of genital ulcers,skin diseases,inflammation and joint disease were 63.9% (23/36),58.3% (21/36),25.0% (9/36) and 25.0% (9/36),respectively.The main symptoms of digestive system were abdominal pain,diarrhea,bloating and hemafecia,of which abdominal pain was the predominant symptom and the incidence rate was 75.0% (27/36).Gastrointestinal bleeding,intestinal perforation,intestinal obstruction and arteriovenous fistula were the common complications of Behcet's disease and the incidence rates were 36.1% (13/36),2.8% (1/36),2.8% (1/36) and 2.8% (1/36),respectively.Among patients with ocular lesions,male patients were more than female patients (male six and female three),and the difference was statistically significant (x2 =0.111,P<0.05).Erythrocyte sedimentation rate increased in 55.6% (20/36) patients.C-reactive protein was positive in 27.8% (10/36) patients.Nine patients received computed tomography (CT) examination,there were five cases with thickened bowel wall and one case with proliferative lesions at ileocecal valve.Ileocecum was the predilection site

  12. Mouth and genital ulcers with inflamed cartilage syndrome: Case report and review of the published work

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    Yuka Kaneko

    2016-01-01

    Full Text Available Mouth and genital ulcers with inflamed cartilage (MAGIC syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD and relapsing polychondritis (RP. We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD. The patient with uveitis, polyarthritis, and histological confirmation of chondritis also fulfilled criteria for diagnosis of RP. The patient was successfully treated with oral colchicine followed by prednisolone. The symptoms of MAGIC syndrome gradually disappeared, and the prednisolone dosage was gradually decreased and stopped. She has been in remission without active medication for a further 8 months. In the previous reports, some authors suggested that MAGIC syndrome was not a disease entity and might be RP occurring secondary to BD, another association of an autoimmune disease, or vasculitis with RP. However, the pathogenic association between MAGIC syndrome, BD, and RP is still unclear, and the number of reported cases of MAGIC syndrome is insufficient to establish a clear explanation. Therefore, further accumulation of data and careful observation of the clinical course are required to improve the understanding of MAGIC syndrome.

  13. Mouth and Genital Ulcers with Inflamed Cartilage Syndrome: Case Report and Review of the Published Work.

    Science.gov (United States)

    Kaneko, Yuka; Nakai, Noriaki; Kida, Takashi; Kawahito, Yutaka; Katoh, Norito

    2016-01-01

    Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD) and relapsing polychondritis (RP). We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD. The patient with uveitis, polyarthritis, and histological confirmation of chondritis also fulfilled criteria for diagnosis of RP. The patient was successfully treated with oral colchicine followed by prednisolone. The symptoms of MAGIC syndrome gradually disappeared, and the prednisolone dosage was gradually decreased and stopped. She has been in remission without active medication for a further 8 months. In the previous reports, some authors suggested that MAGIC syndrome was not a disease entity and might be RP occurring secondary to BD, another association of an autoimmune disease, or vasculitis with RP. However, the pathogenic association between MAGIC syndrome, BD, and RP is still unclear, and the number of reported cases of MAGIC syndrome is insufficient to establish a clear explanation. Therefore, further accumulation of data and careful observation of the clinical course are required to improve the understanding of MAGIC syndrome.

  14. Doença de Behçet na infância Behcet's disease in childhood

    Directory of Open Access Journals (Sweden)

    Patrícia R. de Albuquerque

    2002-04-01

    confirmam a importância de considerar o diagnóstico de doença de Behçet em regiões com úlceras orais e genitais, especialmente úlceras orais recorrentes.Objective: to make Pediatricians aware of the fact that they must investigate Behcet's disease while performing differential diagnosis of recurrent aphthous stomatitis, even though it is a vasculitis of rare occurrence in early life. Methods: between June 1996 and December 2000, we retrospectively evaluated seven patients of our Pediatric Rheumatology Unit. Demographic, clinical, and laboratory data as well as data regarding treatment and follow-up were presented.Results: five out of seven patients were female (71.4%, four were non-Caucasian (57.1%, the mean age at onset was 8 years and 11 months (variation of 6 months to 13 years and 8 months, the mean period until diagnosis was 2 years and 3 months (variation of 2 months to 8 years and the mean follow-up period was 4 years and 2 months (three patients without follow-up. The major criteria of diagnosis were: oral ulcers in seven patients (100%, genital ulcers in three patients (42.8%, ophthalmic alterations in four patients (57.1% cutaneous vasculitis in one patient (14.2% and positive pathergy test in one patient (14.2%. The minor criteria were: arthralgia/arthritis in five patients (71.4%, family history in two patients (28.5%, and sagittal sinus thrombosis in one patient (14.2%. The initial symptoms included recurrent aphthous stomatitis (more than three painful aphthous ulcers episodes in the period of 1 year, genital ulcers, arthralgia, fever and weight loss. The laboratory findings were: mild anemia in 1/6 patients, ESR>25 in 3/6 patients, increased serum gammaglobulin level in 2/4 patients, B5 histocompatibility antigen in 2/7 patients. The treatment included corticosteroids for 5/7 patients (4 oral, 1 intravenous and one local use, thalidomide for 4/7 patients, colchicine for 2/7 patients and dapsone for 1/7 patient. The outcome was favorable in 4/6, and 3

  15. Etiology and portal vein thrombosis in Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    Oguz Uskudar; Meral Akdogan; Nurgul Sasmaz; Sevinc Yilmaz; Muharrem Tola; Burhan Sahin

    2008-01-01

    AIM: To research the etiology, portal vein thrombosis and other features of Budd-Chiari syndrome (BCS)patients prospectively.METHODS: A total of 75 patients (40 female, 35 male) who were diagnosed between January 2002 and July 2004 as having BCS were studied prospectively.Findings from on physical examination, ultrasonography,duplex ultrasonography and venography were analyzed.Hemogram and blood chemistry were studied at the time of diagnosis and on each hospital visit. Bone marrow examination and immune phenotyping were performed by a hematologist when necessary. Protein C, S, antithrombin Ⅲ, activated protein C resistance,and anticardiolipin antibodies, antinuclear antibodies,and anti ds-DNA were studied twice. The presence of ascite, esophageal varices, and portal thrombosis were evaluated at admission and on every visit.RESULTS: At least one etiological factor was determined in 54 (72%) of the patients. The etiology could not be defined in 21 (28%) patients. One etiological factor was found in 39, 2 factors in 14 and 3 factors in 1 patient.The most common cause was the web (16%), the second was Hydatid disease (11%), the third was Behcet's disease (9%). Portal vein thrombosis was present in 11 patients and at least one etiology was identified in 9 of them (82%).CONCLUSION: Behcet's disease and hydatid disease are more prominent etiological factors in Turkey than in other countries. Patients with web have an excellent response to treatment without signs of portal vein thrombosis while patients having thrombofilic factors more than one are prone to develop portal vein thrombosis with worse clinical outcome.

  16. Clinical Features of Recurrent Aphthous Ulcer in Behcet's Disease%白塞病患者口腔黏膜病变的特点:附127例临床分析

    Institute of Scientific and Technical Information of China (English)

    高碧霞; 吴庆军; 李菁; 唐福林

    2011-01-01

    Objective To analyze the characteristics of recurrent aphthous ulcer (RAU) of mouth in Behcet's disease (BD). Methods We retrospectively studied the clinical manifestations of 127 patients with BD and features of RAU in 66 cases with details. Results There were 78 men and 49 women with a mean age of 37 (range from 8 to 77). They presented with multiple organ or system involvements, including RAU (93.0%), genital ulcer (69.3%), rash (52.0%), large blood vessel (30.7%), eye (23.6%), gastrointestinal tract (22.0%), central nervous system (8.7%), myelodysplasia syndrome (7.9%) and heart (4.7%). RAU of 66 cases were described in details, in which 59 (89.4%) had minor types, 5 (7.6%) had major types and 2 (3.0%) had herpetiform RAU. The most common site of minor oral ulcer was the tongue (54.2%), followed by the buccal mucosa (42.4%) and lip (33.9%). Most RAU were acute ulcer (86.4%) with good prognosis. In our study, 2 patients had giant pharyngeal ulcer and 1 suffered stenosis of pharyngeal cavity with poor response to corticosteroid. Conclusion RAU is the most common and the first-onset presentation of BD. Most RAU were minor type with good prognosis. Some chronic giant ulcers were atypical, resulting in stenosis of pharyngeal cavity.%目的 总结白塞病(BD)口腔黏膜病变特点,以提高对该病的认识.方法 回顾性分析2006年1月至2010年5月入住北京协和医院的127例BD患者的临床表现,尤其是66例BD患者的口腔黏膜病变特点.结果 127例BD患者中男性78例,平均发病年龄37(范围8~77)岁.复发性阿弗他口腔溃疡(RAU)(93%)、外生殖器溃疡(69.3%)及皮肤病变(52.0%)是三大常见表现,并出现大血管(30.7%)、眼(23.6%)、胃肠道(22.0%)、神经系统(8.7%)、骨髓增生异常综合征(7.9%)、心脏(4.7%)受累.66例对口腔黏膜病变有详尽描述,其中小溃疡59例(89.4%),好发部位依次为舌(54.2%)、颊黏膜(42.4%)、唇(33.9%),大溃疡5例(7.6%)

  17. Clinical features of Behcet's disease complicated with pulmonary embolism and retrospective analysis%白塞病并发肺栓塞的临床特点

    Institute of Scientific and Technical Information of China (English)

    王新霞; 刘双; 杨京华; 朱光发

    2012-01-01

    Objective To observe the recognition of Behcet disease(BD) complicated with pulmonary embolism(PE),and to explore the diagnosis and treatment.Methods Based on the clinical data of 3 cases of BD complicated with PE at Beijing Anzhen Hospital from 2005 to 2011,and 13 cases of BD complicated with PE reported in domestic papers from 1996 to 2011,the clinical characteristics of BD complicated with PE were analyzed and summarized retrospectively.Results BD complicated with PE were more common in young people(8/9) and in male(8/9).There were 8 cases of oral ulcers,5 cases of genital ulcers and 4 cases of skin lesions(1 case of pseudo folliculitis,3 cases of erythema nodosum).There were 1 case of positive prick test,2 cases of the eye lesions,5 cases of fever,8 cases of hemoptysis,4 cases of cough,3 cases of breathing difficulties and 5 cases of deep vein thrombosis.Erythrocyte sedimentation rate in 4 cases increased among 6 cases who had erythrocyte sedimentation rate records.The level of C-reactive protein in 7 cases increased among 8 cases who had C-reactive protein records.Pulmonary artery pressure in 2 cases increased among 4 cases who had pulmonary artery pressure records.7 cases were diagnosed of PE by CT or MRI of pulmonary angiography,2 cases were diagnosed of radionuclide lung ventilation/perfusion.Conclusion Pulmonary embolism is involved in the Behcet's disease;the treatment of the patients includes prevention of the recurrence of thrombosis.%目的 提高对白塞病并发肺栓塞的认识,探讨其诊断与治疗.方法 收集我院3例白塞病并发肺栓塞患者,和国内1996-2011年文献检索刘的6例白塞病并发肺栓塞患者的临床资料,对白塞病并发肺栓塞的临床特点进行回顾性分析总结.结果 总结9例病例后发现白塞病并发肺栓塞病例多见于青年人(8/9),其中男性多见(8/9).9例患者临床表现的特点:口腔溃疡者8例,生殖器溃疡者5例,皮肤病变者4例(假性毛囊炎1

  18. Interleukin-23 Receptor Gene Polymorphism May Enhance Expression of the IL-23 Receptor, IL-17, TNF-α and IL-6 in Behcet's Disease.

    Directory of Open Access Journals (Sweden)

    Zhengxuan Jiang

    Full Text Available Recent studies identified an association between Behcet's disease (BD and the IL-23R gene polymorphism (rs17375018 in different populations. This study examined whether this IL-23R gene polymorphism is associated with enhanced inflammatory responses.We recruited 27 BD patients and 32 controls with three genotypes. Peripheral blood mononuclear cells (PBMCs were seeded with or without anti-CD3 and CD28. Cells were incubated for 24 hours, and then supernatants were collected and stored at -20◦C until analyzed. Levels of interferon (IFN-γ, tissue necrosis factor (TNF-α, interleukin (IL-17 and IL-6 were detected by ELISA. IL-23R expression was assessed by quantitative real-time polymerase chain reaction (RT-PCR.The expression of IL-23R was significantly higher in both BD patients and healthy controls with the GG genotype compared to the AG and AA genotype with anti-CD3 and CD28 stimulation (all P-value < 0.05. Among the PBMCs cultured with anti-CD3 and CD28 stimulation, there was an elevated secretion of TNF-α, IL-6 and IL-17 in BD patients and healthy controls with the GG genotype. However, there was no significant change in secretion of IFN- γ in BD patients and healthy controls among the genotype of this IL-23R gene polymorphism.The results suggest that the GG genotype of the rs17375018 variant in the IL-23R gene enhances pro-inflammatory cytokine responses.

  19. Beals Syndrome

    Science.gov (United States)

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  20. Autoimmune Syndromes Presenting as a Paraneoplastic Manifestation of Myelodysplastic Syndromes: Clinical Features, Course, Treatment and Outcome.

    Science.gov (United States)

    Williamson, Bradley T; Foltz, Lynda; Leitch, Heather A

    2016-05-10

    Autoimmune manifestations (AIM) are reported in up to 10-30% of myelodysplastic syndromes (MDS) patients; this association is not well defined. We present herein a retrospective chart review of single center MDS patients for AIM, a case discussion and a literature review. Of 252 MDS patients examined, 11 (4.4%) had AIM around MDS diagnosis. International Prognostic Scoring System scores were: low or intermediate (int)-1 (n=7); int-2 or high (n=4). AIM were: culture negative sepsis (n=7); inflammatory arthritis (n=3); vasculitis (n=4); sweats; pericarditis; polymyalgia rheumatica (n=2 each); mouth ulcers; pulmonary infiltrates; suspicion for Behcet's; polychondritis and undifferentiated (n=1 each). AIM treatment and outcome were: prednisone +/- steroid sparing agents, n=8, ongoing symptoms in 5; azacitidine (n=3), 2 resolved; and observation, n=1, ongoing symptoms. At a median follow up of 13 months, seven patients are alive. In summary, 4.4% of MDS patients presented with concomitant AIM. MDS should remain on the differential diagnosis of patients with inflammatory symptoms. PMID:27499837

  1. Discriminating Potential of Extraintestinal Systemic Manifestations and Colonoscopic Features in Chinese Patients with Intestinal Beh(c)et's Disease and Crohn's Disease

    Institute of Scientific and Technical Information of China (English)

    Ji Li; Pan Li; Jing Bai; Hong Lyu; Yue Li; Hong Yang; Bo Shen

    2015-01-01

    Background:The distinction between intestinal Beh(c)et's disease (BD) and Crohn's disease (CD) is always challenging due to many overlapping clinical features.We conducted a retrospective study to reveal valuable strategies for the differential diagnosis between intestinal BD and CD in Chinese patients based on their clinical and colonoscopic features.Methods:Thirty-five intestinal BD patients and 106 CD patients hospitalized from January 1983 to January 2010,who had ulcerative lesions in the terminal ileum or colon under colonoscopy and no history of gastrointestinal operation except appendectomy before admission,were enrolled.Univariate and multivariate logistic regression analyses were conducted to find discriminating predictors among demographic data,clinical manifestations,and colonoscopic findings.Results:Based on univariate analysis,massive gastrointestinal hemorrhage,fever,and extraintestinal systemic manifestations were more common in intestinal BD patients (P =0.022,0.048 and 0.001,respectively),while diarrhea,intestinal obstruction,and perianal lesions were more common in CD patients (P =0.002,0.010,and 0.027 respectively).Based on colonoscopy,focal involvement,ileocecal valve deformity,solitary ulcers,large ulcers (ulcer size > 2 cm),and circumferential ulcers were more common in intestinal BD patients (P =0.003,0.003,0.014,0,013,and 0.003,respectively),while segmental involvement,longitudinal ulcers,a cobblestone or nodular appearance,and pseudo-polyps were more common in CD patients (P =0.003,0.008,0.023,and 0.002,respectively).Based on multivariate logistic regression analysis,diarrhea,extraintestinal manifestations,ulcer distribution,size,and type,and pseudo-polyps were independent discriminating predictors between the two groups (P =0.048,0.008,0.006,0.021,0.002,and 0.041,respectively).The discriminating algorithm composed of the above independent predictors had the highest area under the curve of 0.987 for distinguishing between the two diseases

  2. Certain Autoimmune Manifestations Are Associated With Distinctive Karyotypes and Outcomes in Patients With Myelodysplastic Syndrome: A Retrospective Cohort Study.

    Science.gov (United States)

    Lee, Sang Jin; Park, Jin Kyun; Lee, Eun Young; Joo, Sang Hyun; Jung, Kyeong Cheon; Lee, Eun Bong; Song, Yeong Wook; Yoon, Sung-Soo

    2016-03-01

    Autoimmune manifestations (AIMs) are common in patients with myelodysplastic syndrome (MDS). This study aimed to investigate whether AIMs are associated with a specific cytogenetic abnormalities and worse survival in patients with MDS.A total of 67 MDS patients with AIMs and 134 age- and sex-matched MDS patients without AIMs, all of whom received medical care at Seoul National University Hospital from January 2000 through July 2014, were enrolled. The clinical features, chromosomal abnormalities, and outcomes were examined. The effect of AIMs on mortality was estimated after adjusting for age, sex, and the International Prognostic Scoring System.The mean age (±SD) at the time of MDS diagnosis was 54.5 ± 17.1 years, and 44.8% of patients were male. Neutrophilic dermatosis (ND; Sweet syndrome and pyoderma gangrenosum) was the most prevalent AIM (n = 24 36%]), followed by Behcet disease (10 [15%]), rheumatoid arthritis (9 [13%]), vasculitis (8 [12%]), myositis (3 [4%]), spondyloarthropathy (3 [4%]), and systemic lupus erythematous (2 [3%]). ND and vasculitis occurred at the time of MDS diagnosis, whereas other AIMs occurred years after MDS diagnosis. Deletion of 5q was associated with ND (P = 0.001), whereas trisomy 8 was associated with Behcet disease (P = 0.015). Strikingly, ND was associated with a 1.8-fold increase in mortality (95% CI 1.033-3.093; P = 0.038).Certain AIMs in MDS patients are associated with distinctive karyotypes and worse survival. A larger study is needed to confirm whether the presence of AIMs influences disease outcome in MDS. PMID:27043672

  3. Auriculotemporal Syndrome (Frey Syndrome).

    Science.gov (United States)

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  4. Bi Syndrome (Arthralgia Syndrome)

    Institute of Scientific and Technical Information of China (English)

    ZHANG En-qin

    2010-01-01

    @@ The word 'Bi' (痹) in Chinese means an obstruction.Bi Syndrome refers the syndrome characterized by the obstruction of qi and blood in the meridians due to the invasion of external pathogenic wind, cold and dampness, manifested as soreness, pain, numbness,heavy sensation, swelling of joints and limbs, limitation of movements and so on.

  5. 贝赫切特综合征合并冠状动脉性心脏病%Coronary Artery Disease in Behcet' s Disease

    Institute of Scientific and Technical Information of China (English)

    朱燕林; 吴庆军; 严晓伟; 唐福林

    2012-01-01

    目的 分析贝赫切特综合征(又称白塞病,BD)合并冠状动脉性心脏病(CAD)患者的临床特点,探讨其治疗方案.方法 回顾性总结北京协和医院诊治的12例BD合并CAD患者的临床特点、冠状动脉造影所见、治疗及其预后.结果 BD合并CAD患者12例,男女比为11:1,平均年龄43岁.临床表现为心肌梗死11例(2例合并梗死后心绞痛)、单纯心绞痛1例.9例行冠状动脉造影,结果显示单支或多支血管狭窄或闭塞6例、动脉瘤1例、2例未见明确异常.1例行CT冠状动脉成像显示左右冠状动脉窦瘤.其他表现包括口腔阿弗它溃疡(12/12)、皮肤损害(8/12)、外阴溃疡(8/12)、大血管病变(5/12)及针刺反应阳性(5/12)等.12例患者均接受大剂量糖皮质激素治疗,10例患者联合免疫抑制剂治疗,同时予以冠心病二级预防治疗,6例行介入治疗.结论 BD合并CAD以冠状动脉严重狭窄/闭塞和(或)动脉瘤为特点,及时合理加强免疫抑制治疗是改善预后的关键.%Objective To investigate the clinical features, therapy and prognosis of Behcet' s disease ( BD ) complicated with coronary artery disease (CAD). Methods The clinical manifestation, coronary artery angiographic findings, management and prognosis of CAD in BD were analyzed retrospectively. Results Twelve patients of BD complicated with CAD were included, of which eleven patients were male, one female. Acute pressing chest pain was the most common and indicative feature of CAD, usually with corresponding changes in electrocardiogram and elevated cardiac enzymes. Angiographic findings included single or multiple coronary severe stenosis or totally occlusion (6/9), aneurysm (1/9) and insignificant changes (2/9). In addition, recurrent oral ulcerations (12/12), skin lesions (8/12), genital ulcerations (8/12), major vessel involvement (5/12), and positive pathergy test (5/12) were presented. All patients received immunosuppressive agents and coronary secondary

  6. Clinical analysis of 128 patients with Behcet's disease%白塞综合征128例临床分析

    Institute of Scientific and Technical Information of China (English)

    李晓建; 史玉玲; 顾俊瑛; 陈明华; 郑志忠

    2012-01-01

    目的:总结白塞综合征的临床特点,提高对白塞综合征的认识.方法:对收集的128例白塞综合征患者的临床资料进行回顾性分析,对其临床表现、实验室检查、男女间的差异进行比较.结果:128例患者中男女比例约1.5:1,发病年龄多为20~39岁(78.3%).平均发病年龄(32.0±12.1)岁,病程1~22 年,平均病程5 年.其中不完全型80例(62.5%),完全型48例(37.5%).口腔溃疡是最常见的临床表现(128 例,100%),其次为皮肤损害(115 例,89.8%),生殖器溃疡(92 例,71.9%),针刺反应阳性(70例,54.7%),眼部损害(38 例,29.7%).人白细胞抗原(HLA)-B51 阳性率为29.5%(18/61).口腔溃疡为最常见的首发表现(91例,71.1%),其次为皮肤损害(69 例,53.9%),外阴溃疡(61 例,30.9%),眼部损害(15例,11.7%).男女间在发病率、皮损类型、眼部损害、神经系统损害及相关实验室检查差异显著.结论:白塞综合征累及多系统,临床表现多变,男女间差异明显.%Objective: To observe the clinical characteristics of patients with Behcet's disease (BD). Methods: Clinical data were collected from 128 patients with (BD) admitted to Dermatology Department of Tenth People s Hospital of Tongji University during 1996 to 2009. The clinical manifestations were analyzed retrospectively, including its prevalence by gender and time, involvement in the varied organs and systems and the differences between male and female patients. Results: Mean age at onset was (32.0±12.1) years old, with an average length of clinical course of 5 (1-22) years. Oral ulcer was the most often found in all the 128 (100%) patients, and then followed by skin lesions in 115 cases (89.8%), genital ulcer in 92 cases (71.9%), positive for isomorphic reaction in 70 cases (54.7%), and eyes involvement in 38 cases (29.7%). Among 61 cases 18 (29.5%) were HLA-B51 positive. Oral ulcer, as the initial sign, was found in 91 of 128 cases, and then followed by skin lesions in 69 cases, genital

  7. Clinical Features in 62 Cases with Behcet's Disease%62例贝赫切特综合征临床分析

    Institute of Scientific and Technical Information of China (English)

    赵秀雯; 李裔烁; 金香花; 肖卫国

    2012-01-01

    Objective To investigate the clinical features of Behcet' s disease ( BD ). Methods The clinical manifestations and laboratory data of 62 cases with BD were analyzed retrospectively. Results Mean age at onset was ( 43 ± 2 ) years. The frequency of each clinical manifestation shows as follows: oral ulceration in 100%( 62/62 ), genital ulceration in 82. 3% ( 51/62 ), skin affected in 66. 1% ( 41/62 ), pathergy test-positive 62. 9% ( 39/62 ), eye lesions in 43. 6% ( 27/62 ), gastrointestinal lesions in 25. 8% ( 16/62 ), arthritis in 22. 6%( 14/62 ), nervous system lesions in 12. 9%( 4/62 ), five cases of large blood vessels ( 8. 1% ), interstitial lung disease in 4. 8% ( 3/62 ), liver function abnormalities in 3. 2%( 2/62 ), renal involvement in 3. 2%( 2/62 ) and blood system affected in 3. 2%( 2/62 ) respectively. There was significant difference between male and female in the rate of eye lesions ( 70. 3% to 32. 0% ). Conclusion Multiple organs and systems could be involved in BD, whose clinical manifestations could be extreme diverse. Abnormal immune laboratory data might be associated with important organs and systems affected.%目的 探讨贝赫切特综合征(BS,又称白塞病)的临床特点.方法 回顾性分析62例贝赫切特综合征患者的临床表现及实验室资料.结果 患者平均发病年龄(43±2)岁,病程2个月 ~30年,个别以系统受累为首发症状.各症状发生频率由高到低依次为:口腔溃疡62例(100%),生殖器溃疡51例(82.3%),皮肤病变41例(66.1%),针刺反应阳性39例(62.9%),眼病变27例(43.6%),关节炎14例(22.6%),消化道病变16例(25.8%),神经系统病变4例(12.9%),大血管病变5例(8.1%),肺间质改变3例(4.8%),肝功能异常2例(3.2%),肾脏受累2例(3.2%),血液系统中白细胞、血红蛋、血小板均减少2例(3.2%).男性患者眼病变发生率高于女性,两组间差异有统计学意义(P<0.05).结论 贝赫切特综合征的临床表现多种多样,可累及多器官、系

  8. The efficacy evaluation of etanercept in patients with Behcet's disease%依那西普治疗白塞病的疗效评价

    Institute of Scientific and Technical Information of China (English)

    管剑龙; 谢伟林; 王培珍; 韩星海

    2009-01-01

    Objective To evaluate the therapeutic effect of etanercept in patients with Behcet's disease (BD). Methods Twenty six patients with active BD were eligible for anti-TNF-α treatment, which failed previously to commonly used drugs. All the patients were stopped previous therapy and treated with etanercept 25 mg twice a week. The clinical responses and laboratory parameters were evaluated at the baseline, week 2, 4, 8, 12 and 24, and week 12 of etanercept withdrawal. Results Etanercept was effective in several clinical lesions and lab. parameters at all time points. Especially at week 2, including oral ulcers, genital ulcers, erythema nodosum, pseudofolliculitis and swollen joints (P<0.01). Two of four cases of uveitis were contro-lled with addition of topical corticosteroids; The ileocecal junction ulcer of 1 patient healed after 2 months etanercept therapy; four cases of epididymitis reached complete remission at week 4. ESR(P=0.012) and CRP (P=0.013) were also rapidly decreased at week 2. Most patients were relapsed at week 12 of etanercept withdrawal compared with baseline except for swollen joints (0.65±1.09 vs 0.31±0.60, P<0.01) after etanercept withdrawal, in which the typical rebound was CRP from (481±312) mg/L to (549±267) mg/L (P=0.013).Conclusion Etanereept has rapid efficacy onset for most of the mucocutaneous disorders and possibly effective for arthritis, ophthalmitis, epididymitis and colonic ulcer of BD.%目的 评价依那西普治疗白塞病(BD)的疗效和安全性.方法 26例采用常规治疗无效的活动性BD患者纳入实验.停用所有既往治疗药物,改用依那西普25 mg,皮下注射,每周2次.在基线水平,第2、4、8、12、24周和停用依那西普12周时分别评价临床和实验室指标.结果 依那西普在随访的各时间点对BD多有一定疗效.且以第2周较为显著:包括口腔溃疡、外阴溃疡、结节性红斑、假性毛囊炎和关节肿胀数(P<0.01).4例眼色素膜炎

  9. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  10. Curative effect observation of Colchicine in the treatment of 25 cases of patients with behcet disease%秋水仙碱治疗白塞病25例疗效观察

    Institute of Scientific and Technical Information of China (English)

    尹涛; 张玉芳; 周琳; 钟连生

    2012-01-01

    目的 探讨口服秋水仙碱治疗白塞病的疗效及不良反应.方法 选择已经确诊无重要脏器损害的白塞病患者25例,给予口服秋水仙碱0.5 mg,每天2次,共8周,观察该药对白塞病患者口腔溃疡、外阴溃疡、结节性红斑、关节疼痛的疗效,并评价其不良反应.结果 治疗结束时,口腔溃疡、外阴溃疡、结节性红斑及关节损害的治愈率分别为20.0%、87.5%、80.0%和85.7%;治疗开始时,外阴溃疡、结节性红斑及关节损害的平均数量分别为(4.80±3.24)、(7.31±3.44)、(6.60±3.24)、(3.57±1.81)个,治疗8周后分别为(3.84±3.54)、(1.41±0.50)、(2.42±1.10)、(1.89±0.71)个,外阴溃疡、结节性红斑及关节损害的平均数量在治疗8周后均显著低于治疗前(P < 0.01).常见不良反应包括恶心、腹痛及腹泻等消化道症状,未见其他严重不良反应.结论 秋水仙碱可以作为白塞病患者的一线治疗药物.%Objective To investigate the effect and adverse reactions of Colchicine in the treatment of behcet disease. Methods 25 cases of patients confirmed with behcet disease without important organ damage were selected to take Colchicine 0.5 mg orally twice a day for eight weeks, and the curative effect of Colchicine on oral ulcer, vulva ulcer, erythema nodosum and arthralgia were observed, its adverse reactions were evaluated also. Results At the end of the treatment, the cure rate of oral ulcer, vulva ulcer, erythema nodosum and arthralgia were 20.0%, 87.5%, 80.0% and 85.7%. At the beginning of treatment, the average amount of vulva ulcer, erythema nodosum and arthralgia were (4.80±3.24), (7.31± 3.44), (6.60±3.24) and (3.57+1.81). 8 weeks after treatment, they were (3.84±3.54), (1.41 ±0.50), (2.42±1.10) and (1.89± 0.71) respectively. And they were significantly lower than before treatment (P < 0.01). The common adverse reactions were gastrointestinal symptoms, such as nausea, abdominal pain and diarrhea, etc. There were no

  11. 老年人白塞病的消化系统表现%Clinical manifestations in digestive system of Behcet's disease in elderly patients

    Institute of Scientific and Technical Information of China (English)

    赵莉; 王征; 许乐; 谢鹏雁

    2013-01-01

    Objective To investigate the clinical manifestations,endoscopy and pathological features of Behcet's disease (BD) in gastrointestinal systems in elderly patients.Methods Totally 8 patients aged ≥ 60 years with BD were collected.Clinical characteristics and endoscopic performances of gastrointestinal tracts in patients were summarized.All patients were received gastrointestinal biopsy and the histology change was observed.The vasculitis of gastrointestinal tracts was confirmed by histochemical staining.Results The proportion of patients with BD involving the esophagus was 16.7% (9/54) and among whom 6 cases (11.1 %) were elderly,so the proportion of BD patients with esophageal lesions in elderly patients was 66.7 % (6/9).The proportion of patients with BD involving the ileocolon was 9.3% (5/54) and 4 cases (7.4%) were elderly patients,so the proportion of BD patients with ileocolon lesions in elderly patients was 80.0% (4/5).6 patients had retrosternal chest pain,among whom 2 patients with dysphagia and 4 patients with abdominal pain and hematochezia.In the laboratory tests,the levels of erythrocyte sedimentation rate (ESR) and C reactive protein were elevated in 4 cases,and antinuclear antibodies (ANA) and anti-neutrophil cytoplasm antibody(ANCA)were negative in all patients.In the physical examination,oral and genital ulcers in 6 patients,and a history of recurrent oral and genital ulcers were found in the other 2 patients.6 patients had ophthalmia and 4 patients with skin lesions.6 patients had multiple esophageal ulcers,in which shallow ulcers was more common,and the surface of ulcer was clean and white with congestion and edema at the periphery of ulcers.BD involving the ileocecal and ascending colon were found in 4 cases.Typical small vessel vasculitis was the pathological performance.The retrosternal chest pain disappeared and the esophageal ulcers were healed after the treatment.Conclusions Gastrointestinal involvement in BD patients is

  12. Association between HLA-B51 alleles and Behcet's disease in Chinese Han nationality%HLA-B51与白塞病相关性研究

    Institute of Scientific and Technical Information of China (English)

    李晓建; 陈明华; 郑志忠

    2009-01-01

    Objective To investigate the possible association between HLA-B51 alleles and Behcet's disease (BD). Methods Totally, 61 Chinese patients of Han nationality, who were diagnosed with BD according to the International Study Group (ISG) criteria, were recruited. The control cohort consisted of 100 healthy individuals. Blood samples were obtained from all the subjects. PCR-sequenee specific primers (SSPs) were used to for the genotyping of HLA-B51 alleles (HLA-B5101-HLA-B5109). Results Com- pared with the control group (11 positive, 11% ), the frequency of HLA-B51 (18 positive, 29.5% ) was sig- nificantly increased in BD patients (χ2=8.79, P<0.01, RR=3.39). The HLA-B51-positive patients and controls consistently carried HLA-B5101 allele with no other alleles observed. There were 15 males and 3 females in HLA-B51 positive patients, 22 males and 21 females in HLA-B51-negative patients, and signifi- cant differences in gender distribution was observed between HLA-B51-positive and negative patients (P<0.05 ). Moreover, the average age of onset in HLA-B51-positive patients significantly differed from that in HLA-B51-negative patients (28.4±10 years vs 37.3±12 years, P<0.05). However, no significant differ- ences were noticed in the clinical types, course, skin lesions, prevalence of genital ulcer, eye damage, joint involvement, or pathergy reaction between HLA-B51-positive and -negative patients (P0.05). Conclu- sions This study supports that HLA-B5101 allele is associated not only with the development of BD, but also with the gender and onset age of patients with BD of Chinese Han nationality.%目的 探讨HLA-B51等位基因和白塞病的相关性.方法 应用PCR-SSP(序列特异性引物)技术对61例中国汉族白塞病患者及100例正常人对照的HLA-B5101~HLA-B5109等位基因进行检测.结果 与对照组(11例阳性,11%)相比,白塞病组HLA-B51频率(18例阳性,29.5%)明显增高(χ2=8.79,P<0.01,RR=3.39),且白塞病组与对照组中HLA-B51

  13. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  14. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  15. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  16. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  17. National Down Syndrome Society

    Science.gov (United States)

    ... info@ndss.org Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... More » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  18. Learning about Marfan Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  19. Dumping Syndrome

    Science.gov (United States)

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  20. Educational Needs of Patients With Systemic Vasculitis

    Science.gov (United States)

    2014-07-11

    Behcet's Disease; Churg-Strauss Syndrome; Vasculitis, Central Nervous System; Giant Cell Arteritis; Wegener Granulomatosis; Henoch-Schoenlein Purpura; Microscopic Polyangiitis; Polyarteritis Nodosa; Takayasu's Arteritis

  1. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  2. 沙利度胺对白塞病黏膜病变的疗效分析%Clinical Efficacy of Thalidomide in the Treatment of Mucocutaneous Lesions of Beh(c)et Disease

    Institute of Scientific and Technical Information of China (English)

    刘怡欣; 李昕怡

    2013-01-01

    目的 了解沙利度胺对白塞病黏膜损害的疗效.方法 对2002年1月-2008年12月间61例白塞病患者的临床资料进行回顾性研究,所有纳入患者均无重要内脏器官的损害.沙利度胺治疗剂量100mg/d,治疗疗程12周,以后逐步减量.结果 48例完全缓解(在治疗期间无口腔及外生殖器溃疡),但停药后溃疡复发.7例出现上下肢体麻木感,停药后麻木感消失.结论 沙利度胺对白塞病的口腔及外生殖器溃疡治疗有效,100 mg/d的治疗剂量合适.%Objective To determine the efficacy of thalidomide in the treatment of mucocutaneous lesions of Behcet disease(BD) in Chinese. Methods We retrospectively studied 61 patients with BD between January 2002 to December 2008, who primarily had mucocutaneous lesions without major organ involvement. Thalidomide, 100 mg/d was given for 12 weeks and the dosage was gradually reduced. Results A complete remission was achieved (sustained absence of any oral and genital ulceration during the treatment) in 48 of the 61 patients. This effect persisted during the treatment but diminished rapidly after treatment was discontinued. Numbness in upper and lower limbs developed in 7 patients, and the symptom disappeared after thalidomide was stopped. Conclusions Thalidomide is effective for treating oral and genital ulcers of patients with BD. One hundred mg/d might be the proper dosage for Chinese patients.

  3. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  4. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  5. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  6. Sweet Syndrome

    OpenAIRE

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil

    1996-01-01

    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  7. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  8. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  9. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  10. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  11. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep;

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  12. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  13. Bloom's Syndrome

    Science.gov (United States)

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  14. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  15. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  16. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  17. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  18. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  19. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini

    2004-10-01

    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  20. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  1. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  2. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  3. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  4. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  5. Gardner Syndrome

    Science.gov (United States)

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  6. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  7. Piriformis syndrome

    Science.gov (United States)

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  8. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  9. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  10. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  11. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  12. Pendred's syndrome

    International Nuclear Information System (INIS)

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  13. Characteristics of Neuro-Behcet disease: six cases case report and literature review%神经白塞病六例临床特点分析并文献复习

    Institute of Scientific and Technical Information of China (English)

    陈玉辉; 程永静; 黄慈波; 王音; 武连哲; 龚涛

    2015-01-01

    对2000-2014年我院收治的6例神经白塞病(NBD)患者及同期文献报道的344例NBD患者共350例患者的临床资料进行回顾性分析显示NBD患者平均发病年龄为36.7岁,从出现白塞病(BD)症状到发生NBD,平均间隔时间为5.6年.男性多发,男∶女为1.94∶1.NBD全身表现最常见的症状为口腔溃疡(94.9%,277/292),其次为外阴溃疡(69.1%,215/311)、发热(42.1%,131/311).神经系统常见症状为肢体无力(36.9%,129/350)、头痛(34.0%,119/350)、感觉障碍(21.1%,74/350)、球麻痹症状(11.4%,40/350),常见体征为锥体束征(27.1%,95/350).NBD以中枢神经系统(CNS)受累最常见,其中CNS实质型受累占88.0%(308/350),非实质型受累占5.7%(20/350),周围神经系统(PNS)受累少见(6.9%,24/350).糖皮质激素是治疗NBD的首选药物,疗效不佳者可同时合用免疫抑制剂或抗肿瘤坏死因子单克隆抗体.NBD多为单相病程,但32.0%(49/153)的患者存在复发、缓解的情况,7.7%(27/350)的患者预后不良.分析结果提示NBD是一种以CNS受累为主,以肢体无力、头痛、感觉障碍为主要症状的疾病,具有复发、缓解的特点,病情进展、残余症状重者预后不佳,临床诊治过程中需多加关注.%Six patients with Neuro-Behcet disease (NBD) were admitted in Beijing Hospital from 2000 to 2014,during the same period 344 NBD cases were reported in the literature.The clinical data of 350 Chinese NBD patients,including the symptoms,signs,laboratory tests,imaging,treatment and prognosis were retrospectively analyzed.The average onset age was 36.7 years old.The average interval time from Behcet disease (BD) to NBD was 5.6 years.NBD often occurred in male,the male/female ratio was 1.94:1.The most common manifestations were oral ulcer 94.9% (277/292),followed by genital ulcer 69.1% (215/311) and fever 42.1% (131/311).The most common symptoms in neurology were limb weakness (36.9%,129/350),headache (34.0%,119

  14. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  15. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  16. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ...

  17. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  18. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  19. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  20. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  1. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  2. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  3. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato......Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right...

  4. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  5. Rapunzel syndrome

    International Nuclear Information System (INIS)

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  6. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  7. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  8. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  9. Eagle syndrome

    International Nuclear Information System (INIS)

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  10. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  11. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  12. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  13. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  14. The endoscopic and clinical characteristics of gastrointestinal Behcet's disease%累及消化道的白塞病临床表现及其消化内镜下特征分析

    Institute of Scientific and Technical Information of China (English)

    闫秀娥; 周丽雅; 林三仁; 金珠; 崔荣丽

    2011-01-01

    目的 总结累及消化道的白塞病(BD)的临床表现和消化内镜下特征。方法 对27例累及消化道的BD患者的临床资料及随访结果进行回顾性分析。结果 累及消化道的BD以累及食管和回肓部最为常见,分别为74.1%( 20/27)和59.3% (16/27);最常见消化道外症状依次为口腔溃疡(85.2%)、生殖器溃疡(25.9%)、眼炎(7.4%)和皮肤损害(7.4%),消化道症状以胸骨后痛为主(48.1%,13/27);消化内镜下均表现为溃疡,多数溃疡底部不平,溃疡周边有炎性反应,完全型BD与不完全型BD内镜下溃疡特点相似;病理表现以典型小血管炎为主(44.4%,12/27)。结论 累及消化道BD的临床表现复杂,症状与累及部位不一定完全平行,少数患者以消化道表现为首发和唯一症状,部分患者可以出现严重并发症,内镜下病变有一定特点,消化科医师需提高对该病的认识。%Objective To investigate the endoscopic and clinical characteristics of gastrointestinal Behcet's disease (BD). Methods We analyzed the clinical and follow-up data of 27 patients with gastrointestinal BD retrospectively. Results Most common locations involved were esophagus and ileocecum,74. 1% (20/27) and 59. 3% (16/27), respectively. The most common parenteral symptoms were oral ulcers (85.2%), genital ulcers (25.9%), ophthalmitis (7. 4% ) and skin damage (7. 4% ). The most common gastrointestinal symptom was chest pain (48. 1%, 13/27). Ulcer was the basic endoscopic feature,most of which were with uneven bottom and peripheral inflammatory response. There was no difference in endoscopic features between typical BD and atypical BD. Pathology showed typical small vasculitis (44. 4%,12/27). Conclusion Clinical manifestations of intestinal BD vary. Symptoms are not necessarily consistent with the involved locations. A small number of patients with BD present with gastrointestinal symptoms as the first and only

  15. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    J.C. Vis; K. van Engelen; J. Timmermans; B.C. Hamel; B.J.M. Mulder

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  16. Marfan syndrome masked by Down syndrome?

    OpenAIRE

    Mulder, B. J.; van Engelen, K.; Vis, J.C.; Timmermans, J.; Hamel, B C J

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  17. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  18. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  19. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  20. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  1. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  2. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  3. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  4. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  5. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  6. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low ...

  7. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  8. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  9. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  10. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  11. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  12. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  13. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  14. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  15. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  16. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features ...

  17. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  18. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  19. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite...

  20. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  1. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  2. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Rachel Bastiaenen

    2011-12-01

    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  3. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  4. Reye syndrome - resources

    Science.gov (United States)

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  5. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  6. Iliotibial band syndrome - aftercare

    Science.gov (United States)

    IT band syndrome - aftercare; Iliotibial band friction syndrome - aftercare ... If you have iliotibial band syndrome you may notice: Mild pain on the outside of your knee when you begin to exercise, which goes ...

  7. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  8. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  9. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  10. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  11. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  12. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  13. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  14. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  15. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  16. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  17. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  18. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  19. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  20. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  1. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  2. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  3. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  4. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  5. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  6. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  7. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  8. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus;

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  9. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  10. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  11. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. PMID:27250821

  12. [Hepatopulmonary syndrome].

    Science.gov (United States)

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  13. Antiphospholipid syndrome.

    Science.gov (United States)

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  14. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  15. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  16. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  17. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  18. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  19. Mobbing syndrome

    Directory of Open Access Journals (Sweden)

    Sakoula Z.

    2014-07-01

    Full Text Available Introduction: The term mobbing comes from the English word mob, meaning attack, Compass bother. Today is the systematic psychological attack and a strategic marginalization accepted at the workplace from their superiors or colleagues unwanted, for various reasons, employees. The term was used in 1800 by British biology, description of aggressive behavior in flight, certain species of migratory birds. In 1900, ethologist Konrad Lorenz uses it to interpret the hostility of the majority of the herd, compared to lean animals of the same breed. The German psychologist Heinz Leyman, is the first, which is in the 80s, attributes the condition in human society, describing all the negative health effects of mobbing in the workplace as a "syndrome mobbing». Purpose: To work is to illustrate the phenomenon mobbing, which can appear as a problem in the relationship of the perpetrator to the victim, but also implies the presence of such conditions to occur and flourish. Literature Review: searched the literature, internet, Keyword: Work or Employee Abuse, Mistreatment, Emotional Abuse, Bossing, Victimization, Intimidation, Psychological terrorization, Psychological violence. The mobbing syndrome is defined as "repeated abusive behavior, manifested through actions, words, intimidation, acts, gestures, ways of organizing work and have the character or purpose to offend the personality, dignity or physical or mental integrity of the worker in the performance of his work, to jeopardize the employment status or to create a hostile, intimidating, degrading, humiliating or offensive working environment. According to the French psychiatrist Marie France Hirigoyen, the "offender" is a personality that satisfied 'hurting' his fellows and develops self-esteem, conveying to others the "pain" that cannot feel, but also the internal contradictions that refuses edited. Conclusions: the mobbing is the reason for the development of mental and physical diseases as an

  20. Leigh syndrome

    International Nuclear Information System (INIS)

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate neucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome. (author)

  1. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  2. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  3. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  4. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  5. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Reality Donate to Research Reality Fund October is Rett Syndrome Awareness Month Rettsyndrome.org is excited to provide ... Website What’s in Your State? For Families: Find Rett syndrome related resources in your state! State Resources Rettsyndrome. ...

  6. Androgen insensitivity syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the sharing features on this page, please enable JavaScript. Androgen insensitivity syndrome (AIS) is when a person who ...

  7. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  8. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  9. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and a form of ...

  10. Down Syndrome: Education

    Science.gov (United States)

    ... Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

  11. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  12. Treacher Collins syndrome

    Science.gov (United States)

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  13. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Movie: Digestive System Winter Sports: Sledding, ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  14. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  15. Abdominal Pain Syndrome

    Science.gov (United States)

    ... inspection of a drop of urine), and urine culture for bacterial infection. Stools can be analyzed for ... Hepatitis C Inflammatory Bowel Disease Irritable Bowel Syndrome Obesity Digestive Health Topics Abdominal Pain Syndrome Belching, Bloating, ...

  16. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  17. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical ... and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes ...

  18. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    2008-01-01

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  19. Metabolic Syndrome and Migraine

    OpenAIRE

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  20. PRES syndrome

    International Nuclear Information System (INIS)

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  1. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  2. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  3. Familial Crouzon syndrome

    OpenAIRE

    Y Samatha; T Harsha Vardhan; A Ravi Kiran; A J Sai Sankar; B Ramakrishna

    2010-01-01

    Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  4. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.)

  5. What Is Usher Syndrome?

    Science.gov (United States)

    ... into electrical impulses that transfer messages to the brain. How is Usher syndrome inherited? Usher syndrome is ... required for the child to be affected. A person with only one copy of the gene is a ... in deafness and deaf-blindness, but are not related to Usher syndrome. ...

  6. Stiff skin syndrome.

    Science.gov (United States)

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  7. Fragile X Syndrome Overview

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share ... menu on the left. ​ Common Name Fragile X syndrome or Fragile X Medical or Scientific Names Martin-Bell syndrome Last ...

  8. CANDLE syndrome: a recently described autoinflammatory syndrome.

    Science.gov (United States)

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  9. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  10. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  11. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    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

  12. Poland-Möbius syndrome.

    OpenAIRE

    Parker, D. L.; Mitchell, P. R.; Holmes, G. L.

    1981-01-01

    A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.

  13. Association between optical coherence tomography findings and visual acuity of Behcet's disease-associated uveitis patients during remission stage%Behcet病葡萄膜炎缓解期黄斑中心凹结构与视力的关系研究

    Institute of Scientific and Technical Information of China (English)

    周婉瑜; 杨治坤; 刘新书; 韩筱煦; 张美芬

    2015-01-01

    Objective To study the relationship between the structure of macular central fovea and the best-corrected visual acuity (BCVA) during remission stage of Behcet's disease associated uveitis.Methods Retrospective case series studies.The study covered 5 1 patients (79 eyes) during remission stage of Behcet's disease-associated uveitis from Peking Union Medical College Hospital in a three-year period from January 2012 to January 2015.There were 40 males, 11 females with the average age of 31.5±6.9 years old (ranging from 18 to 46).All the patients received a complete set of ophthalmic examination, including BCVA, intraocular pressure, slit-lamp microscope, ophthalmoscope and frequency domain optical coherence tomography (OCT).All the eyes were divided into 4 groups according to central macular thickness (CMT) (the thick CMT group: CMT≥130 μm;the thin CMT group: CMT<130 μm) and the existence of ellipsoid zone.Group 1: thick CMT and ellipsoid (+);Group 2: thick CMT and ellipsoid (-);Group 3: thin CMT and ellipsoid (+);Group 4: thin CMT and ellipsoid (-).Sight disparity among multiple groups was tested with Kruskal Wallis, while the difference between two groups was tested with Mann-Whitney U test.Bonferroni correction was conducted when necessary.Results The mean CMT was (151.4±62.3)μm in all eyes (43 eyes in thick CMT group, 36 eyes in thin CMT group).According to grouping rule, there were 32 eyes in group 1, 11 eyes in group 2, 2 eyes in group 3 and 34 eyes in group 4.The BCVA of thick CMT group was better than that of thin CMT group (logMAR0.1 and logMAR1.0) (z=-6.88, P<0.O1).In addition, the BCVA of ellipsoid (+) group was better than the ellipsoid (-) group.(log MAR0.1 and log MAR1.0) (z=-6.60, P< 0.01).Conclusion Thick CMT and intact ellipsoid zone usually associated with relatively better BCVA in Behcet's disease-associated uveitis patients.%目的 分析Behcet病患者葡萄膜炎缓解期的黄斑中心凹结构与最佳

  14. Vasculitis Illness Perception (VIP) Study

    Science.gov (United States)

    2014-07-11

    Wegener Granulomatosis; Microscopic Polyangiitis; Churg-Strauss Syndrome; Polyarteritis Nodosa; Giant Cell Arteritis; Takayasu's Arteritis; Henoch-Schoenlein Purpura; Behcet's Disease; CNS Vasculitis

  15. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  16. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  17. Hemolytic Uremic Syndrome in Children

    Science.gov (United States)

    ... KB)​​​​​ Alternate Language URL Hemolytic Uremic Syndrome in Children Page Content On this page: What is hemolytic ... spine. [ Top ] What causes hemolytic uremic syndrome in children? The most common cause of hemolytic uremic syndrome ...

  18. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  19. Genetics Home Reference: Rotor syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Rotor syndrome Rotor syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rotor syndrome is a relatively mild condition characterized by ...

  20. Features of Fragile X Syndrome

    Science.gov (United States)

    ... Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition that causes ... health concerns associated with the condition. Features of Fragile X Syndrome in Males Read our Story The majority of ...

  1. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  2. Fat embolism syndrome

    OpenAIRE

    Jacob George; Reeba George; Dixit, R; Gupta, R C; Gupta, N.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  3. Cannabinoid Hyperemesis Syndrome

    OpenAIRE

    Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.

    2011-01-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointes...

  4. Understanding Brugada syndrome.

    Science.gov (United States)

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  5. Posterior Reversible Encephalopathy Syndrome

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators at Children's Hospital of Montefiore, Albert Einstein College of Medicine, NY, determined the incidence of posterior reversible encephalopathy syndrome (PRES) in a pediatric critical care unit.

  6. Short Bowel Syndrome

    Science.gov (United States)

    ... may include nutritional support medications surgery intestinal transplant Nutritional Support The main treatment for short bowel syndrome is nutritional support, which may include the following: Oral rehydration. Adults ...

  7. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  8. Neonatal abstinence syndrome

    Science.gov (United States)

    ... JR, Isemann B, Ward LP, et al. Current management of neonatal abstinence syndrome secondary to ... MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of ...

  9. Laugier-Hunziker syndrome.

    Science.gov (United States)

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier-Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier-Hunziker syndrome with its differential diagnosis.

  10. Do you know this syndrome? *

    OpenAIRE

    Rosmaninho, A.; Pinto-Almeida, T.; Fernandes, I; Machado, S; Selores, M.

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), d...

  11. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  12. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  13. Bronchiectasis and Marfan's syndrome.

    OpenAIRE

    Foster, M E; Foster, D R

    1980-01-01

    Marfan's syndrome is a rare hereditary disorder characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients the commonest being spontaneous pneumothorax and emphysema. A patient is described who had Marfan's syndrome and bronchiectasis, an association only described on 2 previous occasions in the literature.

  14. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  15. Syndrome in question*

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  16. Syndrome in Question.

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  17. Syndrome in question*

    OpenAIRE

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

  18. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia;

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients...

  19. Klippel-Feil Syndrome

    Science.gov (United States)

    ... such as Klippel-Feil Syndrome and open promising new avenues for treatment. NIH Patient Recruitment for Klippel-Feil Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 March of Dimes 1275 Mamaroneck Avenue ...

  20. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and self-ne

  1. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  2. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  3. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous sys

  4. Epidemiology of Down Syndrome

    Science.gov (United States)

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  5. Restless Legs Syndrome

    Science.gov (United States)

    ... Us FAQs Home » Health Information for the Public » Health Topics » Restless Legs Syndrome Explore Restless Legs Syndrome What Is... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Living With Clinical Trials Links Related Topics Insomnia Sleep Deprivation and Deficiency Sleep Studies Send a ...

  6. Juvenile polyposis syndrome

    NARCIS (Netherlands)

    L.A.A. Brosens; D. Langeveld; W.A. van Hattem; F.M. Giardiello; G.J.A. Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a

  7. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  8. Apert Syndrome. Case Report

    Directory of Open Access Journals (Sweden)

    Ninecta Pérez Breña

    2010-08-01

    Full Text Available The case of a white female aged 7 is evaluated in the Primary Care Service of the Barrio Adentro medical mission in Nueva Esparta state, Republic of Venezuela. After a clinical and radiological evaluation she is diagnosed with a genetic syndrome known as Apert Syndrome.

  9. Peripheral nerve hyperexcitability syndromes.

    Science.gov (United States)

    Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil İbrahim; Tüzün, Erdem; Öge, Ali Emre

    2015-01-01

    Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

  10. Kleine Levin Syndrome

    Directory of Open Access Journals (Sweden)

    Abdul Wahid Khan, Zia Ud Din, Abdul Salam

    2002-07-01

    Full Text Available A case of Kleine Levin Syndrome is presented. Episodic course with spontaneous remission of eachepisode and characteristic features of hypersomnia, hyperphagia, disinhibited behavior. affective featureslike ilTitability and cognitive disturbance made the diagnosis of Kleine Levin syndrome 111 ourpatient.

  11. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  12. Fragile X syndrome.

    OpenAIRE

    Wiebe, E.; A. Wiebe

    1994-01-01

    Fragile X syndrome is the most common form of inherited mental retardation. Only recently has it been possible to detect all carriers and transmitters. We review the syndrome and discuss the pedigree of a large fragile X family. Family doctors should identify cases in their practices so genetic counseling can be offered to the families.

  13. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  14. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  15. [Frey syndrome in childhood].

    Science.gov (United States)

    Clarós, P; González-Enseñat, M A; Arimany, J; Vincente, M A; Clarós, A

    1993-01-01

    Frey's syndrome is distinguished by the appearing of erythema, sensation of hotness, sometimes pain, and transpiration discharge in the preauricular and temporal area when ingestion stars. We present an eleven month old child with this pathology and we review the etiology and clinic manifestations of this syndrome. PMID:8129975

  16. [Schizophrenia or Asperger syndrome?].

    Science.gov (United States)

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  17. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  18. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

  19. Syndrome in question: Gorlin-Goltz syndrome*

    Science.gov (United States)

    Ribeiro, Pauline Lyrio; de Souza Filho, João Basílio; de Abreu, Karina Demoner; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome. PMID:27579759

  20. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  1. Genetics Home Reference: Majeed syndrome

    Science.gov (United States)

    ... the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps ... NORD): Osteomyelitis National Organization for Rare Disorders (NORD): Sweet Syndrome GeneReviews (1 link) Majeed Syndrome Genetic Testing Registry ( ...

  2. Sweet's syndrome with idiopathic thrombocythemia

    OpenAIRE

    Kaszewski, Sebastian; Czajkowski, Rafał; Protas-Drozd, Franciszka; Placek, Waldemar; Jakubowski, Sebastian

    2014-01-01

    Diagnosis of paraneoplastic skin syndromes associating neoplastic processes is assumed as the crucial aspect of dermatological practice. Knowledge of clinical findings of dermatoses suggesting coincidence of malignant proliferative processes facilitates diagnostic and therapeutic procedures. We would like to present a case of Sweet's syndrome, qualified for comparative paraneoplastic skin syndromes. Sweet's syndrome, acute, febrile neutrophilic dermatosis, was first described by Robert Dougla...

  3. Cannabinoid hyperemesis syndrome.

    Science.gov (United States)

    Galli, Jonathan A; Sawaya, Ronald Andari; Friedenberg, Frank K

    2011-12-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointestinal tract and CNS. Tetrahydrocannabinol, cannabidiol, and cannabigerol are three cannabinoids found in the cannabis plant with opposing effects on the emesis response. The clinical course of Cannabinoid Hyperemesis Syndrome may be divided into three phases: prodromal, hyperemetic, and recovery phase. The hyperemetic phase usually ceases within 48 hours, and treatment involves supportive therapy with fluid resuscitation and anti-emetic medications. Patients often demonstrate the learned behavior of frequent hot bathing, which produces temporary cessation of nausea, vomiting, and abdominal pain. The broad differential diagnosis of nausea and vomiting often leads to delay in the diagnosis of Cannabinoid Hyperemesis Syndrome. Cyclic Vomiting Syndrome shares several similarities with CHS and the two conditions are often confused. Knowledge of the epidemiology, pathophysiology, and natural course of Cannabinoid Hyperemesis Syndrome is limited and requires further investigation. PMID:22150623

  4. Recurrent Miller Fisher syndrome.

    Science.gov (United States)

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  5. Mosaicism in Stickler syndrome

    OpenAIRE

    Stevenson, David A.; Vanzo, Rena; Damjanovich, Kristy; Hanson, Heather; Muntz, Harlan; Hoffman, Robert O.; Bayrak-Toydemir, Pinar

    2012-01-01

    Stickler syndrome is a heterogeneous condition due to mutations in COL2A1, COL11A1, COL11A2, and COL9A1. To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome. We report on a family with two clinically affected sibs with Stickler syndrome who have clinically unaffected parents. Both sibs have a novel heterozygous mutation in exon 26 of COL2A1 (c.1525delT); this results in a premature termination codon downstream of the mutation sit...

  6. Iliotibial band friction syndrome.

    Science.gov (United States)

    Lavine, Ronald

    2010-07-20

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy.

  7. Testicular Feminization Syndrome

    Directory of Open Access Journals (Sweden)

    Vaneet Kour, Ajay Abrol

    2005-01-01

    Full Text Available Testicular feminization syndrome or androgen insensitivity syndrome is a rare disorder with anincidence of 1:20,000-64,000 male births. The individual with complete form of this syndrome (CIAShave female external genitalia while those with partial form (PIAS have variable ambiguity ofgenitalia and often need extensive reconsructive surgery. The diagonosis should be suspected infemale child with inguinal hernia or presenting with primary ammenorrohea and on examinationthere is no vagina with absent axillary or pubic hair. Awareness of this entity is important as withearly diagonosis such disorder can be managed appropriately and accurate information can begiven to parents regarding long term issues of harmone replacement therapy and fertility.

  8. [Plummer-Vinson syndrome].

    Science.gov (United States)

    Munyó, J C; Leborgne, F; Regules, J E

    1978-01-01

    The Plummer-Vinson syndrome is very uncommon in Latin America. Four cases showing the clinical-radiological and hematological features of this syndrome are described. Three cases were treated with esophageal dilatation and Ferro therapy. The radiological evaluation may show deformities in the faringo-esophageal lumen other than the esophageal webs, such as hypertrophy of the cricopharingeal sphincter and of the retrocricoid venous plexus as well as the demonstration of esophageal webs in the patients without symptoms or signs of the Plummer Vinson Syndrome.

  9. [Refeeding syndrome: practical issues].

    Science.gov (United States)

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  10. Ehlers-Danlos syndrome

    Science.gov (United States)

    Possible complications of Ehlers-Danlos syndrome include: Chronic joint pain Early-onset arthritis Failure of surgical wounds to close (or stitches tear out) Premature rupture of membranes during pregnancy ...

  11. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

  12. ADHD & Down Syndrome

    Science.gov (United States)

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down ... Down syndrome have a wide range of learning styles. A child's educational team may need to try ...

  13. RESTLESS LEGS SYNDROME

    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev

    2009-01-01

    Full Text Available The paper describes the epidemiology, etiology, pathogenesis, clinical picture, diagnosis, differential diagnosis, and treatment of restless legs syndrome. Recommendations are given how to choose therapeutic modalities and drugs in relation to different factors.

  14. Cardiorenal Syndromes and Sepsis

    Directory of Open Access Journals (Sweden)

    C. Chelazzi

    2011-01-01

    Full Text Available The cardiorenal syndrome is a clinical and pathophysiological entity defined as the concomitant presence of renal and cardiovascular dysfunction. In patients with severe sepsis and septic shock, acute cardiovascular, and renal derangements are common, that is, the septic cardiorenal syndrome. The aim of this paper is to describe the pathophysiology and clinical features of septic cardiorenal syndrome in light of the actual clinical and experimental evidence. In particular, the importance of systemic and intrarenal endothelial dysfunction, alterations of kidney perfusion, and myocardial function, organ “crosstalk” and ubiquitous inflammatory injury have been extensively reviewed in light of their role in cardiorenal syndrome etiology. Treatment includes early and targeted optimization of hemodynamics to reverse systemic hypotension and restore urinary output. In case of persistent renal impairment, renal replacement therapy may be used to remove cytokines and restore renal function.

  15. Cutaneous nerve entrapment syndrome

    Institute of Scientific and Technical Information of China (English)

    DongFuhui

    2004-01-01

    The cutaneous nerve entrapment syndrome is named that, the cutaneous nerve's functional disorder caused by some chronic entrapment, moreover appears a series of nerve's feeling obstacle,vegetative nerve function obstacle, nutrition obstacle, even motor function obstacle in various degree.

  16. Blind loop syndrome

    Science.gov (United States)

    ... operations for extreme obesity As a complication of inflammatory bowel disease Diseases such as diabetes or scleroderma may slow down movement in a segment of the intestine, leading to blind loop syndrome.

  17. Dumping syndrome (image)

    Science.gov (United States)

    Dumping syndrome occurs when the contents of the stomach empty too quickly into the small intestine. The ... causing nausea, cramping, diarrhea, sweating, faintness, and palpitations. Dumping usually occurs after the consumption of too much ...

  18. Treacher Collins Syndrome

    Science.gov (United States)

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  19. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H

    1999-01-01

    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  20. PIRIFORMIS SYNDROME: A REVIEW

    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  1. Catastrophic Antiphospholipid Syndrome.

    Science.gov (United States)

    El-Shereef, Rawhya R; El-Abedin, Zein; Abdel Aziz, Rashad; Talat, Ibrahim; Saleh, Mohammed; Abdel-Samia, Hanna; Sameh, Amro; Sharha, Mahmoud

    2016-01-01

    This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS). Management of this patient is discussed in detail. PMID:27375916

  2. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... with X-linked Alport Syndrome will show abnormal staining for COL4A5 in the skin biopsy. This approach ... and enzyme tests are performed on cultured tissue cells and/or white blood cells. During amniocentesis, a ...

  3. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  4. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your provider prescribed.

  5. What is Metabolic Syndrome?

    Science.gov (United States)

    ... becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or delay ...

  6. Sudden Infant Death Syndrome

    Science.gov (United States)

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call ... boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health ...

  7. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  8. Rubinsten Taybi Syndrome

    Directory of Open Access Journals (Sweden)

    J. Jannati

    2008-01-01

    Full Text Available Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder with unknown mode of inheritance. "nThis syndrome characterized by Broad terminal phalange of the thumbs and /or hallucess broad terminal phalanges of other fingers, characteristic facies (small head, beaked nose, hypertelorism, antimongoloid slant of the palpebral fissures, strabismus, high arch palate, abnormalities of ears, mental and motor retardation."nRadiologic manifestations are short and wide terminal phalanx of thumbs and great toes, flaring of iliac (small iliac index, and skeletal maturation retardation."nLarge foramen magnum, congenital heart disease, urinary tract anomalies, prominent forehead, vertebral anomalies, sternal anomalies, dislocation of patella, syndactyly, polydactyly, absence of corpus callosum are other reported anomalies."nThe radiologic manifestations of this syndrome are discussed in this case report.

  9. Anesthesia & Down Syndrome

    Science.gov (United States)

    ... has been more aggressive early cardiac intervention. Other congenital (present at birth) issues requiring early surgical intervention in Down syndrome populations include esophageal, gastrointestinal and urinary tract problems. Correction of these problems and early, aggressive ...

  10. Vogt koyanagi harada syndrome

    Directory of Open Access Journals (Sweden)

    Amin S

    1992-01-01

    Full Text Available A case of Vogt Koyanagi Harada syndrome is reported. The depigmented macules appeared initially over eyebrows and around both eyes after an episode of fever and then rapidly involved almost the entire body within 6 months.

  11. Cardio Renal Syndrome

    Directory of Open Access Journals (Sweden)

    KV Sahasranam

    2014-10-01

    Full Text Available For a long time, physicians have recognized that the kidney and the heart are related especially when there is severe dysfunction of either of them. Dysfunction of one of these organs seldom occurs in isolation. Of late the cardio renal syndrome is assuming significance because of its increasing incidence, awareness and complications. There is no definite definition of the cardio renal syndrome. However, an attempted definition states that it is a "decline in renal function in the setting of advanced heart failure". This definition does not cover the whole gamut of the cardio renal syndrome. Cardiac diseases are associated independently with a decrease in renal function and progression of existing renal disease. Chronic Kidney disease (CKD is an independent risk factor for cardiovascular events and outcome. This bidirectional nature of cardiac and renal interaction is called Cardio Renal Syndrome (CRS.

  12. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense;

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  13. Multiple Mucosal Neuroma Syndrome

    Directory of Open Access Journals (Sweden)

    Thami Gurvinder P

    1997-01-01

    Full Text Available A case of multiple mucosal neuroma syndrome recently classified as Multiple Endocrinal Neoplasia (MEN, type 2b, is reported for its rarity and importance of diagnosis at an early age.

  14. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...

  15. Neonatal respiratory distress syndrome

    Science.gov (United States)

    ... syndrome (RDS) is a problem often seen in premature babies. The condition makes it hard for the ... a slippery substance in the lungs called surfactant. This substance helps the lungs fill with air ...

  16. Blueberries and Metabolic Syndrome

    Science.gov (United States)

    Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

  17. Aging male syndrome

    Directory of Open Access Journals (Sweden)

    Valer Donca

    2012-12-01

    Full Text Available Aging Male Syndrome is a medical condition through which men could pass between the ages of 35 and 65, when testosterone levelsin their body decline considerably. Androgen deficiency in the aging male has become a topic of increasing interest and debate throughout theworld. In contrast to female menopause, the process of aging in the male genital system is slow and highly variable between individuals. Thecharacteristic symptoms of Aging Male Syndrome include weakness, depression, fatigue and changes in body hair and skin, decreased sexualdesire, decreased lean body mass accompanied by increased visceral fat, decreased bone mineral density. Aging Male Syndrome is usually diagnosedby testing the blood for testosterone levels. The usual treatment method for Aging Male Syndrome includes testosterone injections,testosterone patches, testosterone gels and oral preparations.

  18. Facts about Tourette Syndrome

    Science.gov (United States)

    ... Articles & Key Findings Free Materials Info For Families Bullying Info for Health Professionals Info for Education Professionals ... 6): 497-501. Centers for Disease Control and Prevention. Prevalence of diagnosed Tourette Syndrome in persons aged ...

  19. Chronic fatigue syndrome

    Science.gov (United States)

    Bennett RM. Fibromyalgia, chronic fatigue syndrome, and myofascial pain. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 274. Engleberg NC. Chronic ...

  20. Catastrophic Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rawhya R. El-Shereef

    2016-01-01

    Full Text Available This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS. Management of this patient is discussed in detail.

  1. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and ... difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include ...

  2. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

    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 a

  3. Frey's syndrome: case report.

    Science.gov (United States)

    Haker, Jacqueline M; Mandel, Louis

    2012-01-01

    Frey's syndrome is characterized by facial sweating and flushing in the parotid area when saliva is stimulated. It usually results from damage to the auriculotemporal nerve during parotidectomy. PMID:23252196

  4. Klinefelter Syndrome (For Teens)

    Science.gov (United States)

    ... role in who we are — including deciding our gender, how we look, and how we grow. Doctors ... with Klinefelter syndrome may also have problems with attention, speech development, and learning word skills like spelling, ...

  5. Atypical charles bonnet syndrome.

    Science.gov (United States)

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav

    2013-10-01

    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  6. Down Syndrome (For Parents)

    Science.gov (United States)

    ... DS based on the infant's physical characteristics, a karyotype — a blood or tissue sample stained to ... the parent of a child diagnosed with Down syndrome, you may at first feel overwhelmed by feelings ...

  7. Chronic Fatigue Syndrome

    Science.gov (United States)

    Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...

  8. Impingement syndrome (image)

    Science.gov (United States)

    ... arch of the shoulder blade, it can cause shoulder pain called impingement syndrome. The tendons become compressed, damaged, and inflamed leading to rotator cuff tendonitis. This can occur ... use of the shoulder like baseball pitching, or from an injury.

  9. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  10. National Reye's Syndrome Foundation

    Science.gov (United States)

    ... Syndrome The Aspirin Link Reye's & Chickenpox Reye's, Flu & H1N1 Reye's & Teens Free School Packages Report A Case of Reye's Aspirin Lists Article Library Medical Library Video Library eBooks & Apps Dick ...

  11. Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Jawa Deepti

    2009-01-01

    Full Text Available Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital.

  12. Shah-Waardenburg Syndrome

    OpenAIRE

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

    2013-01-01

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

  13. Shah-Waardenburg syndrome.

    Science.gov (United States)

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

    2013-01-01

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307

  14. Ketonuria and HELLP syndrome

    OpenAIRE

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management.

  15. Ketonuria and HELLP syndrome.

    Science.gov (United States)

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management. PMID:21686464

  16. Neurocutaneous syndromes; Neurokutane Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Niederstadt, T. [Universitaetsklinikum Muenster (Germany). Inst. fuer Klinische Radiologie; Kurlemann, G. [Muenster Univ. (Germany). Medizinische Fakultaet

    2007-09-15

    Neurocutaneous Syndromes or phakomatoses are a heterogenous group of congenital diseases. They are characterized by dysplasias of tissues derived from the neuroektoderm. Skin alterations may be helpful in the interpretation of cerebral lesions. Recently, the genetic and pathophysiologic alterations of many phakomatoses have been elucidated. In this paper the radiologic findings and clinical signs of the most common neurocutaneous diseases (Neurofibromatosis 1 and 2, Tuberous Sclerosis Complex and Sturge Weber Syndrome) will be discussed. (orig.)

  17. SYNDROME IN QUESTION*

    Science.gov (United States)

    Chiacchio, Nilton Di; Jasso-Olivares, Julio Cesar; Chiacchio, Nilton Gioia Di; Jacinto, José Antonio; Restrepo, Maria Victoria Suárez

    2015-01-01

    The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome. PMID:26131880

  18. Complications of nephrotic syndrome

    OpenAIRE

    Se Jin Park; Jae Il Shin

    2011-01-01

    Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two c...

  19. Iliotibial band friction syndrome

    OpenAIRE

    Lavine, Ronald

    2010-01-01

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for ili...

  20. Ellis Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Shilpy S

    2007-05-01

    Full Text Available Ellis Van Creveld syndrome is a rare disorder and is a form of short-limbed dwarfism. It is an autosomal recessive disorder characterized by tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia and heart defects. This case report presents a classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings.

  1. Tobacco and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Yatan Pal Singh Balhara

    2012-01-01

    Full Text Available Tobacco is a leading contributor to morbidity and mortality globally. Metabolic syndrome is a constellation of abdominal obesity, atherogenic dyslipidemia, raised blood pressure, insulin resistance (with and without glucose intolerance, pro-inflammatory state, and pro-thrombotic state. Tobacco use is associated with various core components of metabolic syndrome. It has been found to play a causal role in various pathways leading on to development this condition, the current article discusses various facets of this association.

  2. Parsonage-Turner Syndrome

    OpenAIRE

    Feinberg, Joseph H.; Radecki, Jeffrey

    2010-01-01

    Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is reported in various clinical situations, including postoperatively, postinfectious, posttraumatic, and postvaccina...

  3. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P

    2010-01-01

    Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

  4. Sweet Syndrome in childhood.

    Science.gov (United States)

    Santos, Talita Batalha Pires dos; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; Cerqueira, Ana Maria Mosca de

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  5. Irritable bowel syndrome.

    OpenAIRE

    Beck, E.; Hurwitz, B

    1992-01-01

    1. Irritable bowel syndrome is a functional disorder of the lower intestinal tract affecting approximately 10% of the population and causing a wide range of symptoms. 2. Most cases of irritable bowel syndrome can be diagnosed in general practice on the basis of the presenting history and clinical examination but some patients may need to be referred to a gastro-enterologist for further assessment including sigmoidoscopy and barium enema. 3. The clinical picture may include symptoms of abdomin...

  6. Nasopalpebral lipoma coloboma syndrome

    Directory of Open Access Journals (Sweden)

    N Suresh Babu

    2011-01-01

    Full Text Available Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.

  7. Trisomy 13 (Patau Syndrome)

    OpenAIRE

    Masoud Poureisa

    2009-01-01

    "nDescription and Definition: Synonym: patau syndrome with an incidence of 1 in 5000 births, this syndrome is characterized by multiple congenital abnormalities involving virtually every organ system. "nAbnormalities Detectable by Ultrasound "nHoloprosencephaly "nVentriculomegaly "nEnlarged cisterna magna "nMicrocephaly "nAgenesis of the corpus callosum "nCleft lip and palate "nMidface hypoplasia "nCyclopia "nMicrophthalmia "nHypotel...

  8. Celiac Artery Compression Syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Muqeetadnan

    2013-01-01

    Full Text Available Celiac artery compression syndrome is a rare disorder characterized by episodic abdominal pain and weight loss. It is the result of external compression of celiac artery by the median arcuate ligament. We present a case of celiac artery compression syndrome in a 57-year-old male with severe postprandial abdominal pain and 30-pound weight loss. The patient eventually responded well to surgical division of the median arcuate ligament by laparoscopy.

  9. Laugier Hunziker syndrome.

    Science.gov (United States)

    Jabbari, Ali; Gonzalez, Mercedes E; Franks, Andrew G; Sanchez, Miguel

    2010-11-15

    Laugier Hunziker syndrome is a rare disorder that is characterized by adult-onset hyperpigmented macules of the lips, oral cavity, and fingertips. Longitudinal melanonychia is present in the majority of cases. We present a 45-year-old woman with adult-onset hyperpigmented macules of the oral cavity as well as linear melanonychia that involved multiple fingernails. The history, clinical examination, and paucity of laboratory abnormalities or systemic findings support a diagnosis of Laugier Hunziker syndrome.

  10. Asperger Syndrome in children

    OpenAIRE

    Ioannis Koutelekos; Chrysoula Valamoutopoulou

    2009-01-01

    The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992) and afterwards in the DSM-IV (American Psychiatric Organization, 1994). The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim o...

  11. Brooke-Spiegler syndrome.

    Science.gov (United States)

    Szepietowski, J C; Wasik, F; Szybejko-Machaj, G; Bieniek, A; Schwartz, R A

    2001-07-01

    The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.

  12. Asperger Syndrome in children

    Directory of Open Access Journals (Sweden)

    Ioannis Koutelekos

    2009-02-01

    Full Text Available The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992 and afterwards in the DSM-IV (American Psychiatric Organization, 1994. The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim of this particular article that constitutes a case study is the descriptive approach of the Asperger’s Syndrome, through the study of the child behavior.The methodology that was followed in the present case-study was based on inquiring studies and reviews that were drawn from international data bases that correspond to this particular case study of syndrome Asperger in children.Results: The individuals with Asperger’ s syndrome, as well as the case study, tend to experience really big difficulties in elementary social behaviors, as failure in the development and creation of friendly relations or in the search of entertainment activities with others. Moreover, they face difficulties in the comprehension of non verbal communication (body language and the other’s expressions, the body gestures or even the eye contact.Conclusions: The precocious recognition of Asperger’s syndrome is imperative, with final objective the continuous briefing and sensitization of all health professionals, as well as the wider public, toward this syndrome. The earlier a parent foreruns for the diagnosis, the bigger probabilities they stand for a potential functional re-establishment of the syndrome.

  13. Syndrome in question*

    Science.gov (United States)

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  14. Syndrome in question*

    OpenAIRE

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of...

  15. Syndrome in question.

    Science.gov (United States)

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-02-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  16. Lehman syndrome: a new syndrome for pierre robin sequence.

    Science.gov (United States)

    Correia-Sá, Inês; Horta, Ricardo; Neto, Tiago; Amarante, José; Marques, Marisa

    2015-05-01

    Lehman syndrome, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and skeletal abnormalities. Only nine cases have been described. We present a case of a 2-year-old boy presenting with micrognathia, glossoptosis, and hypertelorism as well as associated severe obstructive sleep apnea. He was submitted to bilateral mandibular distraction with external nonresorbable devices to correct Pierre Robin sequence (PRS). Later, multiple lateral meningoceles were identified, and a diagnosis of Lehman syndrome was made. Lehman syndrome must be considered in syndromic infants with PRS. Distraction osteogenesis is a safe procedure that is effective as a first choice in the treatment of patients with Lehman syndrome presenting with micrognathia.

  17. Duane's retraction syndrome associated with morning glory syndrome.

    Science.gov (United States)

    Kawano, K; Fujita, S

    1981-01-01

    A 9-year-old boy with Duane's retraction syndrome and morning glory syndrome is presented. The right eye showed a grayish-pink optic disc, which had a deep excavation containing a white mass in its center and was surrounded by an annulus of pigment disturbance, i.e., consistent with the features of morning glory syndrome. The left eye had a congenital disturbance of ocular motility, which was typical of Duane's retraction syndrome. This is probably the first report of the association of Duane's retraction syndrome and morning glory syndrome. It is hypothesized that a noxious stimulus given at around two months of gestation was responsible for this rare association.

  18. Epidermal nevus syndromes.

    Science.gov (United States)

    Asch, Sarah; Sugarman, Jeffrey L

    2015-01-01

    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. The majority of the extracutaneous manifestations involve the brain, eye, and skeletal systems. The CNS involvement is wide ranging and involves both clinical manifestations such as intellectual disability and seizures, as well as structural anomalies. Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach given the potential for multisystem involvement. Of note, epidermal nevi have been associated with both benign and malignant neoplasms, and thus ongoing clinical follow-up is required.

  19. What Are the Treatments for Rett Syndrome?

    Science.gov (United States)

    ... Resources and Publications What are the treatments for Rett syndrome? Skip sharing on social media links Share this: ... 2012, from http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome [top] PubMed Health. (2010). Rett syndrome . Retrieved ...

  20. Takotsubo Syndrome: Insights from Japan.

    Science.gov (United States)

    Akashi, Yoshihiro J; Ishihara, Masaharu

    2016-10-01

    We report the history and new insights of takotsubo syndrome based on the achievements that Japanese researchers have contributed and summarize the evidence originally presented from Japan. Takotsubo syndrome is a newly described heart failure characterized by transient left ventricular dysfunction. We should be aware of this entity as a syndrome, not actual cardiomyopathy. Japanese researchers focus on the experimental approaches for clinical diagnosis and treatment of takotsubo syndrome. As representatives from a country originally naming this syndrome takotsubo, a global registry for takotsubo syndrome including Japan should be established.

  1. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G

    2008-04-01

    Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

  2. Marfan syndrome: An eyesight of syndrome

    Directory of Open Access Journals (Sweden)

    Ashok Kumar

    2014-12-01

    Full Text Available Marfan syndrome (MFS, a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder.

  3. Autoimmune Basis for Postural Tachycardia Syndrome

    Science.gov (United States)

    2016-10-14

    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  4. Juvenile polyposis syndrome

    Institute of Scientific and Technical Information of China (English)

    Lodewijk AA Brosens; Danielle Langeveld; W Arnout van Hattem; Francis M Giardiello; G Johan A Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer.The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34.Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes.Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum,juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis.In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found.Both genes play a role in the BMP/TGF-beta signalling pathway.It has been suggested that cancer in juvenile polyposis may develop through the so-alled "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma.Recognition of this rare disorder is important for patients and their families with regard to treatment,follow-up and screening of at risk individuals.Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome.In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome.

  5. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  6. Enamel renal syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  7. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  8. HERLYN - WERNER - WUNDERLICH SYNDROME (HWW SYNDROME): A CASE REPORT

    OpenAIRE

    Pallavi S.; Ganpat; Gaurav

    2015-01-01

    Congenital anomalies of the mullerian duct system can result in various urogenital anomalies and, Herlyn Werner Wunderlich syndrome (HWW syndrome) is one such rare anomaly . This syndrome is characterized by uterus didelphys with blind hemi vagina and ipsilateral renal agenesis . 1 it is also known as OHVIRA (Obstructed Hemi vagina with ...

  9. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  10. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  11. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.

    Science.gov (United States)

    Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie

    2005-03-15

    CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due

  12. Complex Regional Pain Syndrome (CPRS)

    Science.gov (United States)

    ... a Hand Therapist? Media Find a Hand Surgeon Complex Regional Pain Syndrome - CRPS Email to a friend * ... DESCRIPTION Formerly Known as Reflex Sympathetic Dystrophy (RSD) Complex regional pain syndrome (CRPS) is a pain condition ...

  13. Latah : An indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    2013-01-01

    The nature of culture-specific startles syndromes such as Latah in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in div

  14. Genetics Home Reference: Barth syndrome

    Science.gov (United States)

    ... becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic fibers ... of the muscle and impairs its ability to pump blood. In people with Barth syndrome , the heart problems ...

  15. Aplastic Anemia and Myelodysplastic Syndromes

    Science.gov (United States)

    ... Organizations (PDF, 270 KB). Alternate Language URL Aplastic Anemia and Myelodysplastic Syndromes Page Content On this page: ... References For More Information Acknowledgments What are aplastic anemia and myelodysplastic syndromes (MDS)? Aplastic anemia and myelodysplastic ...

  16. Genetics Home Reference: Moebius syndrome

    Science.gov (United States)

    ... may also be risk factors for Moebius syndrome . Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII . These nerves, which emerge from ...

  17. Irregular sleep-wake syndrome

    Science.gov (United States)

    Sleep-wake syndrome - irregular ... routine during the day. The amount of total sleep time is normal, but the body clock loses ... have a different condition, such as shift work sleep disorder or jet lag syndrome.

  18. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...

  19. How Is Metabolic Syndrome Treated?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Metabolic Syndrome Treated? Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. If heart-healthy lifestyle changes aren’t enough, ...

  20. Tics, Tourette Syndrome, and OCD

    Science.gov (United States)

    ... Size Email Print Share Tics, Tourette Syndrome, and OCD Page Content Article Body Tics are rapid, repetitive ... shown that chronic tic disorders, Tourette syndrome, and OCD may stem from some common factors, and a ...

  1. Fragile X Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Other FAQs Skip sharing on social media links ... Are there specific disorders or conditions associated with Fragile X syndrome? Among the other conditions associated with Fragile X ...

  2. Prognosis of Cyclic Vomiting Syndrome

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2016-03-01

    Full Text Available Investigators from Teikyo University School of Medicine, Tokyo, Japan, evaluated the clinical features, prognosis, and prophylaxis of cyclic vomiting syndrome and the relationship between the syndrome and levels of adrenocorticotropic/antidiuretic hormones (ACTH/ADH.

  3. Genetics Home Reference: Crouzonodermoskeletal syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome Enable ...

  4. Genetics Home Reference: Partington syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Partington syndrome Partington syndrome Enable ...

  5. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions MEGDEL syndrome MEGDEL syndrome Enable ...

  6. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Leigh syndrome Leigh syndrome Enable ...

  7. Refeeding syndrome: a clinical review.

    Science.gov (United States)

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  8. Review of the refeeding syndrome.

    Science.gov (United States)

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  9. Genetics Home Reference: cardiofaciocutaneous syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  10. Chronic Fatigue Syndrome (CFS): Symptoms

    Science.gov (United States)

    ... please visit this page: About CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Symptoms On this Page ... Symptoms What's the Clinical Course of CFS? Chronic fatigue syndrome can be misdiagnosed or overlooked because its ...

  11. Epidermal nevus syndrome.

    Science.gov (United States)

    Laura, Flores-Sarnat

    2013-01-01

    Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

  12. Progestogens and Cushing's syndrome.

    LENUS (Irish Health Repository)

    Harte, C

    2012-02-03

    We report 3 patients where Medroxyprogesterone Acetate (MPA = Provera) and Megestrol Acetate (Megace) in doses used for therapy of breast cancer, caused clinical hypercortisolism and Cushing\\'s syndrome. Studies of the toxicity of Medroxyprogesterone Acetate list the commonest adverse events at 500 mg\\/day as weight gain, water retention, increased blood pressure, tremor, moon face, sweating, muscle cramps, vaginal bleeding and increased appetite. Glucocorticoid-like effects are seen in up to 30% of patients treated for longer than 6 weeks with mostly large doses of the order of 1500 mg\\/day but Cushing\\'s syndrome has been reported in patients taking 400 mg\\/day. Neither the glucocorticoid-like effects or Cushing\\'s syndrome have been previously observed with Megestrol Acetate. In the elderly female population receiving progestogens for neoplastic disease the progestogen itself could be an appreciable cause of morbidity both by causing glucocorticoid-like effects and Cushing\\'s syndrome but also by lack of awareness of the danger of sudden withdrawal of these compounds when the hypothalmic-pituitary-adrenal (HPA) axis is suppressed. The signs and symptoms could be easily overlooked unless appropriate testing for Cushing\\'s syndrome is carried out. While the progestogen may have to be continued indefinitely a dose decrease may be feasible with reduction of morbidity.

  13. Capsule contraction syndrome

    Directory of Open Access Journals (Sweden)

    Mesut COŞKUN

    2009-06-01

    Full Text Available Capsule contraction syndrome occurs after fibrous metaplasia of lens proteins that leads to capsular bag contraction. Excessive front capsular wrinkling is seen in capsule contraction syndrome and there is an imbalance between powers supplying capsular integrity. This situation leads to zonular weakness. Capsule contraction syndrome is associated with pseudoexfoliation, older age, uveitis, pars planitis and myotonic muscular dystrophy. In order to decrease the risk of capsule contraction syndrome, front capsulerhexis area should be open as 5.5-6 mm diameter and a curysoft intraocular lens should be used. In order to prevent lens epithelial proliferation and metaplasia, lens epithelial cells at inferior surface of front capsule should be aspirated carefully. If postoperative capsular contraction detected, front capsulotomy should be performed by Nd-YAG laser at postoperative 2 to 3 weeks. In patients that Nd-YAG laser is unsuccessful, capsular tension should be decreased by surgical microincisions. In present study, we evaluated etiology, prevention and management of capsule contraction syndrome in the light of actual literature knowledge.

  14. Posterior Fossa Syndrome

    Directory of Open Access Journals (Sweden)

    Serhan Kupeli

    2014-08-01

    Full Text Available Posterior fossa syndrome is defined as the temporary and complete loss of speech after posterior fossa surgery which is not related to cerebellar hemorrhage, infection of the cerebellum, degenerative or neoplastic diseases of the cerebellum. In this review, we aimed to outline the incidence of posterior fossa syndrome, to define the risk factors for posterior fossa syndrome, to describe accompanying neurobehavioural and psychologic problems and to speculate about the etiologic mechanisms. The diagnosis of medulloblastoma and midline location of the tumor are important risk factors for the development of posterior fossa syndrome. These findings support the hypothesis that temporary ischemia and edema due to retracted and largely manipulated dentate nuclei and superior cerebellar pedincles may be the cause of mutism. Informing the family and the patient about the posterior fossa syndromemust be a component of the preoperative interview and patients who developed posterior fossa syndrome should be followed for accompanying neurobehavioural and psychologic problems even after mutism improved. [Archives Medical Review Journal 2014; 23(4.000: 636-657

  15. Marfan Syndrome: A Case Report

    OpenAIRE

    Rajendran Ganesh; Rajendran Vijayakumar; Haridoss Selvakumar

    2012-01-01

    Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The ...

  16. Sleep problems in Rett syndrome

    OpenAIRE

    YOUNG, Deidra; Nagarajan, Lakshmi; de Klerk, Nick; Jacoby, Peter; Ellaway, Carolyn; Leonard, Helen

    2007-01-01

    Rett syndrome (RTT) is a severe neurological disorder, affecting mainly females. It is generally caused by mutations in the MECP2 gene. Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. An Australian population-based registry of cases born since 1976 has been operating since 1993, with current ascertainment at 300. The Australian Rett Syndrome Database (ARSD) consists of information about Rett syndrome cases inc...

  17. Waardenburg Syndrome: A Case Report

    OpenAIRE

    Hayrullah Alp; Esma Alp

    2010-01-01

    Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in ea...

  18. Unusual presentation of Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Yu Veronica PCC

    2009-06-01

    Full Text Available Abstract Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR. The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.

  19. Unusual presentation of Lynch Syndrome

    OpenAIRE

    Yu Veronica PCC; Novelli Marco; Payne Stewart J; Fisher Sam; Barnetson Rebecca A; Frayling Ian M; Barrett Ann; Goudie David; Ardern-Jones Audrey; Eeles Ros; Shanley Susan

    2009-01-01

    Abstract Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic an...

  20. Arteriovenous malformations in Cowden syndrome

    OpenAIRE

    Turnbull, M.; Humeniuk, V; Stein, B; SUTHERS, G.

    2005-01-01

    Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan–Riley–Ruvalcaba and Lhermitte–Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectua...

  1. Down Syndrome: A Cardiovascular Perspective

    Science.gov (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  2. Urinary Peptides in Rett Syndrome.

    Science.gov (United States)

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  3. Klinefelter Syndrome With Leg Ulcers

    Directory of Open Access Journals (Sweden)

    Narendra G

    1999-01-01

    Full Text Available Leg ulcers are frequently caused by venous insufficiency, arterial insufficiency, neuropathy, or a combination of these factors. Klinefelter syndrome in association with chronic leg ulcers have been reported earlier. We report a case of Klinefelter syndrome with non- healing ulcer. The diagnosis of the Klinefelter syndrome was confirmed by karyotyping.

  4. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    J.C. Vis; M.G.J. Duffels; M.M. Winter; M.E. Weijerman; J.M. Cobben; S.A. Huisman; B.J.M. Mulder

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  5. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  6. Intestinal haemorrhage in Turner's syndrome.

    OpenAIRE

    Burge, D M; A. W. Middleton; Kamath, R; Fasher, B J

    1981-01-01

    A 13-year-old girl with Turner's syndrome and bleeding from intestinal venous ectasia is reported. The various types of vascular anomaly of the bowel associated with Turner's syndrome are discussed. Awareness of these anomalies may help prevent unnecessary laparotomy in children with this syndrome.

  7. Hypoparathyroidism-retardation-dysmorphism syndrome

    Directory of Open Access Journals (Sweden)

    Kalenahalli Jagadish Kumar

    2013-01-01

    Full Text Available Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD. We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.

  8. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  9. Joint hypermobility syndrome pain.

    Science.gov (United States)

    Grahame, Rodney

    2009-12-01

    Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed, multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome. Whereas the additional flexibility can confer benefits in terms of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences that resonate far beyond the confines of the musculoskeletal system. There is hardly a clinical specialty to be found that is not touched in one way or another by JHS. Over the past decade, it has become evident that of all the complications that may arise in JHS, chronic pain is arguably the most menacing and difficult to treat. PMID:19889283

  10. Femoroacetabular impingement syndrome

    Directory of Open Access Journals (Sweden)

    Tolga Ege

    2016-03-01

    Full Text Available Femoroacetabular impingement (FAI syndrome is a recently understood hip condition that describes the pathologic contact between the femoral neck and the acetabular rim. Previously, it was also called and ldquo;acetabular rim syndrome and rdquo; or and ldquo;cervicoacetabular impingement syndrome and rdquo;. It is characterized by a developmental disorder affecting the femoral neck, acetabular rim and labrum. The chronic irritation on the hip joint causes chondral damage and mechanical changes, and these degenerative changes eventually lead to osteoarthritis. Two types of FAI have been described: Cam type and pincer type. Treatment options for FAI are conservative, open, mini open and arthroscopic surgery. [Arch Clin Exp Surg 2016; 5(1.000: 42-47

  11. Brachman de lange syndrome

    Directory of Open Access Journals (Sweden)

    Leena Verma

    2010-01-01

    Full Text Available Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. It is characterized by skeletal, craniofacial deformities, gastrointestinal and cardiac malformations. This syndrome is of rare occurrence and affects between 1/10,000 and 1/60,000 neonates. Diagnosis is based on the characteristic phenotype, in particular, a striking facial appearance, prenatal and postnatal growth retardation, various skeletal abnormalities, hypertrichosis, and developmental delay. Here, we present the case of a 13-year-old patient, with micrognathia, delayed eruption, multiple carious teeth, missing teeth and periodontal problems together, which had never been reported before. The father was also found to have the same missing teeth as the girl child.

  12. Ankle impingement syndromes

    International Nuclear Information System (INIS)

    Soft-tissue and osseous impingement syndromes can be an important cause of chronic ankle pain, particularly in the professional athlete. The classification of ankle impingement syndromes is based to their anatomical location around the tibiotalar joint. The most important impingement syndromes are anterolateral, anterior and posterior impingement with more recent studies describing posteromedial and anteromedial impingement. Usually conventional radiography is the first imaging technique to be performed as it allows assessment of potential bone abnormalities, particularly in anterior and posterior joint compartments. Computed tomography (CT) only plays a role in the assessment of the posterior impingement. Magnetic resonance (MR) imaging is regarded as the modality of choice as it is able to demonstrate both osseous and soft tissue changes, such as bone marrow edema, capsular and ligametous thickening, and localized synovitis. (orig.)

  13. Marfan syndrome: current perspectives

    Science.gov (United States)

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

    2016-01-01

    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  14. [DRESS syndrome to sulfasalzine].

    Science.gov (United States)

    Bourguignon, R; Piérrard-Franchimont, C; Paquet, P; Piérard, G E

    2006-09-01

    We report a case of drug hypersensibility syndrome (DRESS syndrome) developed one month after initiation of a treatment by sulfasalazine. Due to the severity of the cytolytic hepatic damages as observed in this case, we emphasize the importance of suggesting this diagnosis in any patient developing a cutaneous rash and an alteration of the general health status after initiation of a new treatment. The hematologic alterations which represent a key feature for the diagnosis may rash. develop only a few days after the cutaneous rash. PMID:17112165

  15. 46,XX Male Syndrome

    Directory of Open Access Journals (Sweden)

    Bekir Uçan

    2013-06-01

    Full Text Available 46, XX male syndrome – testicular disorder of sexual differentiation (DSD is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic. Turk Jem 2013; 17: 46-8

  16. The alcohol withdrawal syndrome.

    LENUS (Irish Health Repository)

    McKeon, A

    2008-08-01

    The alcohol withdrawal syndrome (AWS) is a common management problem in hospital practice for neurologists, psychiatrists and general physicians alike. Although some patients have mild symptoms and may even be managed in the outpatient setting, others have more severe symptoms or a history of adverse outcomes that requires close inpatient supervision and benzodiazepine therapy. Many patients with AWS have multiple management issues (withdrawal symptoms, delirium tremens, the Wernicke-Korsakoff syndrome, seizures, depression, polysubstance abuse, electrolyte disturbances and liver disease), which requires a coordinated, multidisciplinary approach. Although AWS may be complex, careful evaluation and available treatments should ensure safe detoxification for most patients.

  17. [Neuroleptic induced deficit syndrome].

    Science.gov (United States)

    Szafrański, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes. PMID:7652089

  18. Sturge-Weber syndrome

    International Nuclear Information System (INIS)

    Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and electroencephalogram (EEG) analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS. (author)

  19. Marfan syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Pepe G

    2016-05-01

    Full Text Available Guglielmina Pepe,1,2 Betti Giusti,1,2 Elena Sticchi,1,2 Rosanna Abbate,1,2 Gian Franco Gensini,1–3 Stefano Nistri2,4 1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, 2Cardiothoracovascular Department, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, 3Santa Maria agli Ulivi, Fondazione Don Carlo Gnocchi, Onlus, Institute for Cancer Research and Treatment, Florence, 4Cardiology Service, CMSR Veneto Medica, Altavilla Vicentina, Italy Abstract: Marfan syndrome (MFS is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD, mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial. They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation, while it has no significant effect on patients displaying dominant negative (qualitative mutations. Moreover, a French group in a 3-year trial compared the administration of

  20. Wolcott-Rallison Syndrome

    Directory of Open Access Journals (Sweden)

    A Juneja

    2012-01-01

    Full Text Available Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. This report presents a case of Wolcott-Rallison syndrome in a 10 year old child.

  1. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander;

    2013-01-01

    clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...... at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical...

  2. quadriparesis in sjogren syndrome.

    Directory of Open Access Journals (Sweden)

    nikhil srivastva

    2015-06-01

    Full Text Available Hypokalemic paralysis is a well recognised clinical presentation of Primary sjogren syndrome that occurs due to renal potassium loss caused by interstitial nephritis. However we report a case where a hypokalemic paralysis in a suspected case of sjogren syndrome was associated with high anion gap metabolic acidosis in the presence of a near normal Glomerular filtration rate (RTA and a failure to acidify urine pH 5.5 in the presence of systemic acidosis. [Natl J Med Res 2015; 5(2.000: 161-162

  3. Patellofemoral pain syndrome.

    Science.gov (United States)

    Collado, Hervé; Fredericson, Michael

    2010-07-01

    Patellofemoral pain (PFP) syndrome is a frequently encountered overuse disorder that involves the patellofemoral region and often presents as anterior knee pain. PFP can be difficult to diagnose. Not only do the etiology, diagnosis, and treatment remain challenging, but the terminology used to describe PFP is used inconsistently and can be confusing. Patellofemoral pain syndrome (PFPS) seems to be multifactorial, resulting from a complex interaction among intrinsic anatomic and external training factors. Although clinicians frequently make the diagnosis of PFPS, no consensus exists about its etiology or the factors most responsible for causing pain. This article discusses the pathophysiology, diagnosis, and management of PFP.

  4. Heritable Gastrointestinal Cancer Syndromes.

    Science.gov (United States)

    Stoffel, Elena M

    2016-09-01

    Although almost all gastrointestinal cancers develop from sporadic genomic events, approximately 5% arise from germline mutations in genes associated with cancer predisposition. The number of these genes continues to increase. Tumor phenotypes and family history provide the framework for identifying at-risk individuals. The diagnosis of a hereditary cancer syndrome has implications for management of patients and their families. Systematic approaches that integrate family history and molecular characterization of tumors and polyps facilitate identification of individuals with this genetic predisposition. This article summarizes diagnosis and management of hereditary cancer syndromes associated with gastrointestinal cancers. PMID:27546846

  5. Juvenile Reiter's syndrome.

    Science.gov (United States)

    Conaglen, J; Grennan, D M; Signal, T; McArthur, J E; Lucas, R; Palmer, D G

    1979-04-01

    A case of Reiter's syndrome occurring in an 11-year-old, pre-pubertal boy is described. The boy was a heterozygote for the histocompatibility antigen B27 and other arthritic members of his family included his mother with colitic arthritis and an aunt with ankylosing spondylitis. His HLA-B27 negative sibs have remained well. Shigella Salmonella and Yersinia organisms have been previously incriminated as precipitating factors in some patients with Reiter's syndrome but no evidence of recent infection with any of these agents was found in this patient. The case is reported because of the rarity of the condition at this age. PMID:287465

  6. Lemierre's Syndrome Complicating Pregnancy

    Directory of Open Access Journals (Sweden)

    M. Thompson

    2007-01-01

    Full Text Available Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with a live birth at term. By reporting this case, we hope to increase the awareness of obstetricians to the possibility of Lemierre's syndrome when patients present with signs of unabating oropharyngeal infection and pulmonary symptoms.

  7. KARTAGENER’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Swati M

    2014-11-01

    Full Text Available : BACKGROUND: Kartagener syndrome (a clinical variant of primary ciliary dyskinesia is an autosomal recessive disease characterized by the triad of chronic sinusitis, bronchiectasis and situs inversus with dextrocardia. CASE CHARACTERISTICS: A 11-year-old boy presenting with chronic cough with expectoration requiring frequent nebulisations. OUTCOME: Early diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case.

  8. Hypercoagulability and nephrotic syndrome.

    Science.gov (United States)

    Gigante, Antonietta; Barbano, Biagio; Sardo, Liborio; Martina, Paola; Gasperini, Maria L; Labbadia, Raffaella; Liberatori, Marta; Amoroso, Antonio; Cianci, Rosario

    2014-05-01

    Patients with nephrotic syndrome are at increased risk for thromboembolic events such as deep venous and arterial thrombosis, renal vein thrombosis and pulmonary embolism. This thrombophilic phenomenon has been attributed to a "hypercoagulable" state in which an imbalance between naturally occurring pro-coagulant/pro-thrombotic factors and anti-coagulant/antithrombotic factors promotes in situ thrombosis in deep veins or arteries. Management of thromboembolic events may be divided in prophylactic and therapeutic strategies. Hypoalbuminemia is the most significant independent predictor factor of thrombotic risk, especially for values thrombosis. Reviewing the recent literature, we suggest the best therapeutic management of anticoagulation for patients with nephrotic syndrome, focusing on prophylactic strategies.

  9. Syndrome in Question*

    Science.gov (United States)

    Tonolli, Vanessa Mello; Stolf, Hamilton Ometto; Tonello, Cláudio Sampieri; Pires, Rafaelle Batistella; Abbade, Luciana Patricia Fernandes

    2014-01-01

    Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents. PMID:24770526

  10. Asperger syndrome revisited.

    Science.gov (United States)

    Baskin, Joseph H; Sperber, Michael; Price, Bruce H

    2006-01-01

    Asperger syndrome (AS) is a disorder on the continuum of autistic spectrum disorders characterized by a lack of social reciprocity and empathy, and severe difficulties in social integration. Controversy remains as to what constitutes AS and whether it should be declared a separate disease or higher-functioning autism. This review discusses the contributions made by Hans Asperger and Leo Kanner in first delineating the condition, and examines the syndrome's incidence, prevalence, and etiologies. Recent studies using neuroimaging are described, along with current diagnostic and treatment options.

  11. [The Patau syndrome].

    Science.gov (United States)

    Misanović, Verica; Jonuzi, Fedat; Biscević, Emir; Uzicanin, Sajra; Vegar, Sandra

    2002-01-01

    Known as D trisomy, Patau syndrome is the third chromosomopathy according to frequency. One of the 5000 newborn carries the trisomy 13. In over 80% cases there is fresh mutation with non separation in myeosis of older mother. The mosaic or translocation forms are not rare. The mail newborn with Patau syndrome is shown in this article. We notice: microcephalia, dolihocephalia, microphthalmia, cheilognatopalatoshisis, polydactilia, and found ultrasound changes at the brain, hearth and genitourinary system. Cytogenetic finding show: mail cariotype with aberrations 47, XY + 13, Sy Patau. PMID:12762245

  12. Pathogenesis of Tourette's syndrome.

    Science.gov (United States)

    Leckman, J F; Peterson, B S; Anderson, G M; Arnsten, A F; Pauls, D L; Cohen, D J

    1997-01-01

    This review presents a models of disease pathogenesis in the context of CNS development. It begins with an exploration of the clinical features and natural history of Tourette's syndrome. This is followed by a consideration of the role of genetic and nongenetic factors. An effort is then made to review the anatomical organization of the basal ganglia and related cortical sites. These circuits are intimately involved in the normal processing of sensorimotor, cognitive, and emotionally laden information. Evidence implicating these circuits in the pathobiology of Tourette's syndrome is then considered. The review closes with the prospects for advances in interdisciplinary research and therapeutics using this model as a guide.

  13. [Alport's syndrome (author's transl)].

    Science.gov (United States)

    Huismans, H

    1978-05-01

    A case report is given of a 22-years old student (whose brother had Alport's syndrome) with recurrent central corneal swelling and paracentral erosions of the cornea of both eyes. Further signs of beginning Alport's syndrome in this case are disturbance of re-adaptation after dazzling (Mesoptometer) and paracentral scotomata in the visual fields. Remarkable was the small diameter of the disc in both eyes (1.37 mm). Local therapy was Scopolamin-eye-drops, Actihaemyl- and especially Cystein-Gel (2.4%). PMID:672101

  14. Drug-Induced Hematologic Syndromes

    Directory of Open Access Journals (Sweden)

    David M. Mintzer

    2009-01-01

    Full Text Available Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications.

  15. Modelling Down Syndrome

    Science.gov (United States)

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  16. Waardenburg syndrome 2

    OpenAIRE

    Uma Garg; Ritesh Surana

    2012-01-01

    Waardenburg syndrome (WS) is a rare disease characterised by sensorineural deafness in association with oculocutaneous pigmentary anomalies and dystopia canthorum. In this article, we report a 6-year-old boy with WS2, one of four clinical types of WS, for its rarity and relative paucity of reports in the otological literature. We also review the relevant literature of this rare disorder.

  17. Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Engenheiro, E; Møller, R S; Pinto, M;

    2008-01-01

    Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 dif...

  18. Nutrition and metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Albornoz López, Raúl

    2012-12-01

    Full Text Available The metabolic syndrome comprises a cluster of metabolic abnormalities that increase the risk for cardiovascular disease and type 2 diabetes mellitus. The exact etiology is unclear, although it is known thatthere is a complex interaction between genetic, metabolic and environmental factors. Among the environmental factors, dietary habits play an important role in the treatment and prevention of this condition. General classic recommendations include control of obesity, increased physical activity, decreased intake of saturated fat and cholesterol, reduced intake of simple sugars and increased intake of fruits and vegetables. It has been studied the influence of diets low in carbohydrates, diets rich in polyunsaturated and monounsaturated fatty acids, fiber intake, the Mediterranean diet and the glycemic index in relation to metabolic syndrome.Other nutrients recently studied are the micronutrients (magnesium and calcium, soy and other phytochemicals. Evidence suggests that a healthy diet like the Mediterranean protects against metabolic syndrome,caracterized for a low content in saturated and trans fat, high in monounsaturated and polyunsaturated fatty acids, balanced intake of carbohydrates and high in fiber, fruits and vegetables. There is more controversy about the type of diet of choice for the control ofmetabolic syndrome (low-carbohydrate diets or lowfat, needing more studies on the role of soy and other phytochemicals.

  19. The Syndrome of Catatonia

    Directory of Open Access Journals (Sweden)

    James Allen Wilcox

    2015-12-01

    Full Text Available Catatonia is a psychomotor syndrome which has historically been associated with schizophrenia. Many clinicians have thought that the prevalence of this condition has been decreasing over the past few decades. This review reminds clinicians that catatonia is not exclusively associated with schizophrenia, and is still common in clinical practice. Many cases are related to affective disorders or are of an idiopathic nature. The illusion of reduced prevalence has been due to evolving diagnostic systems that failed to capture catatonic syndromes. This systemic error has remained unchallenged, and potentiated by the failure to perform adequate neurological evaluations and catatonia screening exams on psychiatric patients. We find that current data supports catatonic syndromes are still common, often severe and of modern clinical importance. Effective treatment is relatively easy and can greatly reduce organ failure associated with prolonged psychomotor symptoms. Prompt identification and treatment can produce a robust improvement in most cases. The ongoing prevalence of this syndrome requires that psychiatrists recognize catatonia and its presentations, the range of associated etiologies, and the import of timely treatment.

  20. Glucagonoma and Pseudoglucagonoma Syndrome

    Directory of Open Access Journals (Sweden)

    Ibánez Aguirre J

    2004-07-01

    Full Text Available CONTEXT: Glucagonoma syndrome may present either associated with a pancreatic neoplasm which secretes glucagon or as a pseudo-glucagonoma associated with other diseases. It is extremely infrequent but well-known with a current prevalence estimated at 1/20,000,000. DESIGN: A retrospective review of glucagonoma and pseudoglucagonoma cases observed between January 1998 and December 2003 in three hospitals. PATIENTS: Five cases: 3 with a demonstrable glucagon-secreting tumor and 2 cases without an associated neoplasm. MAIN OUTCOME MEASURES: Age, sex, initial diagnosis, associated symptoms, and pathology were analyzed as were procedures employed in diagnosis, imaging studies, laboratory data, surgery and follow-up. RESULTS: Hyperglycemia and elevated plasma glucagon levels were found in all cases. In 3 cases, hypo-aminoacidemia and a descrease in fatty acids were found . No changes of zinc levels were observed. Abdominal ultrasound studies were of no value except in evaluating pancreatitis. A CT-scan was conclusive when a pancreatic neoplasm existed and 3 patients were operated on a curative basis. DISCUSSION: Necrolytic migratory erythema was the key diagnosis in all cases. Surgery was intended to be curative. The follow-up was of 8, 37 and 57 months in the cases of true glucagonoma syndrome. CONCLUSIONS: A real prevalence of glucagonoma syndrome could be greater than currently estimated. In our series, it was 13.5/20,000,000. Pseudoglucagonoma syndrome remains a rarity.

  1. Crouzon's syndrome: literature review

    Directory of Open Access Journals (Sweden)

    Cunha, Sarah Crestian

    2008-09-01

    Full Text Available Introduction: The Crouzon syndrome or craniofacial dysostosis type I is a rare disease that affects the craniofacial skeleton development. Although it is uncommon, it has a transmission risk of 50% when one of the parents is a carrier. Objective: Performing a literature review about the Crouzon Syndrome, with emphasis on the current aspects. Method: As a methodology, a search on databases on-line, such as Cochrane, LILACS, MEDLINE, OMIM and SciELO has been made, by applying for the search the key-word Crouzon's Syndrome for articles published until 2007, in addition to the literature already dedicated to the subject. Literature Review: This syndrome is characterized by craniofacial anomalies caused by the early loss of the cranium flexibility, and present since the birth with tendency to aggravation in time. The main clinic signs are craniosynostosis, hypertelorism, exophthalmia, external strabismus, "parrot-beaked nose", short upper lip, hypoplastic maxilla and a relative mandibular prognathism determining a mid-facial hypoplasia aspect. It is a hereditary affection with an autosomal dominant transmission with 100% of penetrance and large phenotypic scale. Final Considerations: The genetic advising and an individual study of each case are essential to promote the improvement of the diagnosis. An early multidisciplinary approach is necessary, with specific therapeutic program aiming at the prevention of late diagnosis effects.

  2. Fatigue syndrome in sarcoidosis.

    Science.gov (United States)

    Górski, Witold; Piotrowski, Wojciech J

    2016-01-01

    Sarcoidosis is an inflammatory disease of unknown etiology. Most commonly it results in the formation of non-caseating granulomas in intrathoracic lymph nodes and lung parenchyma, but the clinical course and picture may be complicated by extrapulmonary involvement and many non-respiratory signs and symptoms which are directly related to the disease. In addition, sarcoidosis patients may suffer from a plethora of symptoms of uncertain or unknown origin. Fatigue is one of these symptoms, and according to some authors it is reported by the majority of patients with active sarcoidosis, but also by a smaller proportion of patients with inactive sarcoidosis, or even with complete clinical and radiological remission. Therefore the term fatigue syndrome is frequently used to name this clinical problem. The definition of fatigue syndrome in sarcoidosis is imprecise and the syndrome is usually recognized by use of validated questionnaires. In this review the uptodate knowledge in this field was presented and different challenges connected with this syndrome were described.

  3. The Proteus syndrome.

    Directory of Open Access Journals (Sweden)

    Alavi S

    1993-10-01

    Full Text Available A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.

  4. [Dejerine-Roussy syndrome].

    Science.gov (United States)

    Cambier, J

    1982-01-01

    The description of the thalamic syndrome by J. Dejerine and G. Roussy in 1906 was a consecration of the clinicopathologic method, announcing the end of discussions relative to the role of the thalamus as a sensorial relay center, discussions opposing B. Luys to Türk and to Charcot and which animated the end of the 19th century. Since then, the thalamic syndrome has not ceased to arouse the attention of neurologists, who have developed four major themes: the specificity of the thalamic hemianesthesia; the mechanism of the central pain; the semiologic value and physiopathology of the abnormal movements; and finally the pupillary and vasomotor disorders. Exploration of each of these topics led to a definition of neurologic semiology and to the development of neurophysiology during the second half of the XXth century. By reviewing this the confrontation between different men and schools appears behind the opposition of ideas. The revision of the thalamic syndrome ceased when the discovery of the non-specific functions of the thalamus opened the way to new concepts. Dejerine-Roussy's syndrome expresses the semiology of the relay nuclei. For the last thirty years, experience has accumulated on the semiology of lesions affecting the nuclei of convergence. Neuropsychology of thalamic lesions has demonstrated the regulatory role performed by the thalamus within each hemisphere and in the relative activation of each hemisphere. But this is another story. PMID:6763299

  5. Hantavirus Pulmonary Syndrome

    Centers for Disease Control (CDC) Podcasts

    2011-07-14

    Dr. Adam MacNeil, epidemiologist with Viral Special Pathogens Branch at CDC, discusses hantavirus pulmonary syndrome.  Created: 7/14/2011 by National Center for Emerging Zoonotic and Infectious Diseases (NCEZID).   Date Released: 7/18/2011.

  6. Kraepelin-fraud syndrome.

    Science.gov (United States)

    Kraepelin, Emil; Freud, Sigmund; Healy, David

    2009-04-01

    Emil Kraepelin (1856-1926) and Sigmund Freud (1856-1936) here (via mysterious mediumistic mechanisms) describe a syndrome, which probably emerged in the 1950s, and can now readily be observed at medical conferences. At its core, the syndrome is comprised of extreme abilities to compartmentalise information of the type found in scientific conferences, an episodic preoccupation with the surface of a science but inability to appreciate its substance (episodic logosagnosia) and a mood state that is heavily dependent on gratification from the range of outlets available at modern conferences. Current estimates of the frequency of the condition are that there are approximately 20 full-blown psychopharmacological carriers of the syndrome per 100 million populations. This should yield a figure of 200 in Europe and North America. If a similar phenomenon applies in other branches of medicine this would yield a further 1200 affected individuals in Western medical circles. It is of pressing interest to establish whether the Kraepelin-Fraud Syndrome exists to any degree in non-medical science, and whether there are differences between those sciences with and without significant commercial applications.

  7. Tics through Tourette's syndrome.

    Science.gov (United States)

    Carter, J H

    1991-06-01

    The concept of Tourette's syndrome as a bizarre and disabling disorder has changed with greater appreciation that this is a spectrum of symptoms and degrees of severity. A thorough understanding of the latest concepts regarding recognition and management is essential for the neuroscience nurse to play a meaningful role as counselor, educator and clinician in the care of these patients and families.

  8. Kleine-Levin Syndrome.

    Science.gov (United States)

    Miglis, Mitchell G; Guilleminault, Christian

    2016-06-01

    Kleine-Levin syndrome is a rare recurrent hypersomnia associated with symptoms of behavioral and cognitive impairment. This article reviews common presenting symptoms, differential diagnosis, diagnostic workup, and potential treatment options. Current updates on functional imaging studies and long-term neuropsychological studies are reviewed. PMID:27137943

  9. Ectopic Cushing syndrome

    Science.gov (United States)

    ... to various problems. One such problem is called Cushing disease . It occurs when the pituitary gland makes too ... Ferri FF. Cushing's disease and syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2016 . Philadelphia, PA: Elsevier Mosby; 2016:385-386. Nieman ...

  10. Sjogren's Syndrome Foundation

    Science.gov (United States)

    ... on Twitter, YouTube, Facebook, and Linkedin! anxiety © 2016 Sjögren’s Syndrome Foundation, Inc. 6707 Democracy Blvd, Ste 325, Bethesda, MD 20817 (Privacy Policy) 1-800 475-6473 · 301 530-4415 (Fax)

  11. Cytokines in Sjogren's syndrome

    NARCIS (Netherlands)

    N. Roescher; P.P. Tak; G.G. Illei

    2009-01-01

    Cytokines play a central role in the regulation of immunity and are often found to be deregulated in autoimmune diseases. Sjogren's syndrome is a chronic autoimmune disease characterized by inflammation and loss of secretory function of the salivary and lachrymal glands. This review highlights the c

  12. Postural orthostatic tachycardia syndrome.

    Science.gov (United States)

    Agarwal, A K; Garg, R; Ritch, A; Sarkar, P

    2007-07-01

    Postural orthostatic tachycardia syndrome (POTS) is an autonomic disturbance which has become better understood in recent years. It is now thought to encompass a group of disorders that have similar clinical features, such as orthostatic intolerance, but individual distinguishing parameters--for example, blood pressure and pulse rate. The clinical picture, diagnosis, and management of POTS are discussed.

  13. The neuroleptic malignant syndrome

    OpenAIRE

    YAZMAN, Yılmaz Niyazi; İYİGÜN, İbrahim

    1998-01-01

    Neuroleptic Malignant Syndrome (NMS) may occur at any time during the course of therapy in as many as 1 percent of persons who take neuroleptics, particulary haloperidol. In this paper, one case with fever (as high as 39 °C), marked rigidity, tachycardia and consciousness is presented, and clinical presentation, treatment and prognosis of NMS is discussed.

  14. Holmes-Adie Syndrome

    Science.gov (United States)

    ... pupil. Thoracic sympathectomy, which severs the involved sympathetic nerve, is the definitive treatment for excessive sweating. What is the prognosis? Holmes-Adie syndrome is not life-threatening or disabling. The loss of deep tendon reflexes is permanent. Some symptoms of the disorder may ...

  15. Chronic fatigue syndrome.

    NARCIS (Netherlands)

    Prins, J.B.; Meer, J.W.M. van der; Bleijenberg, G.

    2006-01-01

    During the past two decades, there has been heated debate about chronic fatigue syndrome (CFS) among researchers, practitioners, and patients. Few illnesses have been discussed so extensively. The existence of the disorder has been questioned, its underlying pathophysiology debated, and an effective

  16. Subacromial impingement syndrome

    NARCIS (Netherlands)

    Umer, M.; Qadir, I.; Azam, M.

    2012-01-01

    Subacromial impingement syndrome (SAIS) represents a spectrum of pathology ranging from subacromial bursitis to rotator cuff tendinopathy and full-thickness rotator cuff tears. The relationship between subacromial impingement and rotator cuff disease in the etiology of rotator cuff injury is a matte

  17. Hair tourniquet syndrome

    Directory of Open Access Journals (Sweden)

    Bangroo A

    2005-01-01

    Full Text Available A frequently unrecognized and potentially devastating form of penile strangulation is that caused by human hair. Hair tourniquet syndrome frequently occurs during the time period when post partum mothers are experiencing increased hair loss. The majority of cases are thought to be accidental, however possibility of child abuse should be considered in every case.

  18. Drug hypersensitivity syndrome

    OpenAIRE

    Rashmi Kumari; Dependra K Timshina; Devinder Mohan Thappa

    2011-01-01

    Drug hypersensitivity syndrome (DHS) is an adverse drug reaction commonly associated with the aromatic antiepileptic drugs (AEDs), viz., phenytoin (PHT), carbamazepine (CBZ), phenobarbital (PB), lamotrigine, primidone, etc. It can also be caused by other drugs, such as sulfonamides, dapsone, minocycline, gold derivatives, cyclosporine, captopril, diltiazem, terbinafine, azathioprine and allopurinol. Diagnosis of DHS may be difficult because of the variety of clinical and laboratory abnormalit...

  19. Doege-Potter Syndrome.

    Science.gov (United States)

    Ahluwalia, N; Attia, R; Green, A; Cane, P; Routledge, T

    2015-10-01

    Doege-Potter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of insulin-like growth factor II (IGF-II) from a solitary fibrous tumour. Surgical resection is curative in the majority of cases. If, however, the diagnosis is not suspected and treatment is delayed, it can lead to hypoxic cerebral injury or death. The underlying tumour can be a benign or malignant pleural tumour but may be present in extrapleural sites. For a diagnosis of Doege-Potter syndrome, symptoms attributable to hypoglycaemia and low blood glucose levels should be present along with the secretion of prohormone IGF-II. We report a case of severe hypoglycaemia in a 76-year-old inpatient admitted for resection of a recurrent left-sided pleural tumour. Investigation revealed true hypoglycaemia and Doege-Potter syndrome was diagnosed. The tumour was completely resected and the patient made a full recovery with no further hypoglycaemic episodes.

  20. The nonthyroidal illness syndrome.

    Science.gov (United States)

    Adler, Suzanne Myers; Wartofsky, Leonard

    2007-09-01

    This article briefly summarizes thyroid function alterations generally seen in the euthyroid sick syndrome, provides an overview of specific thyroidal adaptations during several clinical conditions and secondary to specific pharmacologic agents, and discusses the current controversy in thyroid hormone treatment of nonthyroidal illness.