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Sample records for behcet syndrome

  1. Behcet's Syndrome.

    Science.gov (United States)

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

    2012-12-03

    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).α inhibitors

  2. 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.

  3. Colonic perforation in Behcet's syndrome.

    Science.gov (United States)

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

    2008-11-14

    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.

  4. American Behcet's Disease Association

    Science.gov (United States)

    ... Behcet's Awareness Day Behcet's Disease Awareness Share your story and educate others about Behcet's: www.rareconnect.org/en/community/behcet-s-syndrome Upcoming Events American Behcet's Disease Association PO BOX 80576 Rochester, MI ...

  5. 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.

  6. 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.

  7. Behcet's syndrome and renal involvement: a histological and immunofluorescent study of eleven renal biopsies.

    Science.gov (United States)

    Herreman, G; Beaufils, H; Godeau, P; Cassou, B; Wechsler, B; Boujeau, J; Chomette, G

    1982-01-01

    The finding of focal glomerulonephritis in a patient with Behcet's syndrome led us to perform systematic renal biopsies in ten other patients with the disease. None of the patients had symptoms of renal disease. Proteinuria was found in five, two of whom had associated leukocyturia. By light microscopy mesangial and extramembranous glomerular deposits were observed in eight patients. Arterioles in ten patients showed subendothelial and medial hyaline deposits. A granular pattern of fluorescent staining identified the presence of the third component of complement in these deposits. Circulating immune deposits were sought and found in six out of seven patients. The finding of circulating immune complexes and deposition of complement in glomerular and arteriolar tissues supports an immune complex mediated nephropathy and is consistent with the hypothesis of an immunological pathogenesis in Behcet's syndrome.

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

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    Tajima, Yasutaka; Homma, Sanae; Sinpo, Kazunori; Moriwaka, Fumio; Tashiro, Kunio (Hakodate City Hospital, Hokkaido (Japan)); Maruo, Yasunori

    1994-03-01

    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).

  9. 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.

  10. Two cases of SAPHO syndrome accompanied by classic features of Behcet's disease and review of the literature.

    Science.gov (United States)

    Yabe, Hiroki; Takano, Yoji; Nomura, Eiki; Nakayama, Masanori; Kihara, Michiya; Miyakawa, Shun-Ichi; Horiuchi, Yukio

    2008-01-01

    We describe two patients with SAPHO (synovitis-acne-pustulosis-hyperostosis-ostitis) syndrome who presented some of the classic features of Behcet's disease. The first case is a man diagnosed as SAPHO at 74 years old. His major complaint is pain and swelling of the bilateral sterno-clavicular region for more than 14 years. Another conspicuous complication was bilateral glaucoma and episodes of iritis were recognized during the follow-up period. The second case is a 65-year-old woman, who first consulted us with right knee pain. As she had a past history of palmoplantar pustulosis and anterior chest pain, her sterile knee arthritis was diagnosed as SAPHO. She also had been suffering from recurrent oral aphthous ulceration since 6 months before visiting our hospital. Considering the clinical courses of our two cases and a review of five previously reported cases, these conditions may imply that classic features of Behcet's disease are minor complications of SAPHO syndrome. Human leukocyte antigen typing and frequent association of sacroiliitis in our cases and in the review of the literature for SAPHO syndrome with some of the classic features of Behcet's disease may indicate this condition to be a closely related disease with seronegative spondylo-arthritis.

  11. 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.

  12. 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 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

  13. 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.

  14. 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

  15. Behcet's Disease

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    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  16. 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.

  17. Neurologic involvement in Behcet disease. Case report; Morbus Behcet mit neurologischer Beteiligung. Ein Fallbericht

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    Boehner, C. [Erlangen-Nuernberg Univ., Erlangen (Germany). Inst. fuer Diagnostische Radiologie; Fellner, F. [Erlangen-Nuernberg Univ., Erlangen (Germany). Inst. fuer Diagnostische Radiologie; Reinhardt, F. [Erlangen-Nuernberg Univ., Erlangen (Germany). Neurologische Klinik mit Poliklinik; Eberhardt, K.E.W. [Erlangen-Nuernberg Univ., Erlangen (Germany). Abt. fuer Neuroradiologie

    1997-05-01

    Morbus Behcet is a very infrequent multi-system disease caused by an immunological vasculitis affecting the arteries and veins. The disease is primarily known in Israel, Turkey, Italy, Great Britain and Japan. It may become manifest as erythema nodosum, polyarthritis, thrombophlebitis, occlusive arterial disease, pulmonary infarction, ulcerous colitis, portal hypertension, or via neurological symptoms (collateral symptoms), and it is not possible to make a clear prognosis. The most frequent signs of the neuro-Behcet syndrome, as in the case reported, is a meningoencephalitis. MRI is an essential modality for diagnosis and follow-up of the disease. In this case, the findings included meningeal irritations as well as an abduction deficit indicating involvement of the brain stem of type 1. As described in the literature, pathologic findings have been obtained by spinal fluid tests, showing increased cell number and proteins and pleocytosis of the granulocytes. (Orig./vhe) [Deutsch] Der Morbus Behcet ist eine seltene Multisystemerkrankung in Form einer immunvermittelten Vaskulitis, die Arterien und Venen betrifft. Die Erkrankung findet man ueberwiegend in Israel, der Tuerkei, Italien, Grossbritannien und Japan. Die Erkrankung ist multisystemisch, kann sich als Erythema nodosum, Polyarthritis, Thrombophlebitis, arterielle Verschlusskrankheit, Lungeninfarkt, ulzeroese Colitis, portale Hypertension oder mit neurologischen Symptomen (Nebensymptome) manifestieren, und basiert auf einer immunvermittelten Vaskulitis mit unklarer Prognose. Am haeufigsten manifestiert sich das Neuro-Behcet-Syndrom, wie beim untersuchten Patienten, in Form einer Meningoenzephalitis. Hierbei fand sich neben meningealen Reizsymptomen ein Abduktionsdefizit als Zeichen der Hirnstammbeteiligung im Sinne eines Typ 1. Wie in der Literatur beschrieben, zeigte sich ein pathologischer Liquorbefund mit Zellzahl- und Proteinerhoehung sowie granulozytaerer Pleozytose. Beim Neuro-Behcet, wie bei den anderen

  18. 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.)

  19. 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.

  20. 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.)

  1. 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

  2. Aortocaval Fistula in a Behcet's Disease Patient

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    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.

  3. 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.

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

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    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.

  5. Adamantiades-Behcet's disease-complicated gastroenteropathy

    Institute of Scientific and Technical Information of China (English)

    Qing-Jun Wu; Feng-Chun Zhang; Xuan Zhang

    2012-01-01

    Adamantiades-Behcet's disease (ABD) is a chronic,relapsing,systemic vasculitis of unknown etiology.It is more prevalent in populations along the ancient Silk Road from Eastern Asia to the Mediterranean Basin,and most frequently affects young adults between the second and fourth decades of life.ABD-complicated gastroenteropathy is a significant cause of morbidity and mortality,with abdominal pain as the most common symptom.The ileocecal region is affected predominantly,with ulcerations that may lead to penetration and/or perforation,whereas other parts of the gastrointestinal system including the esophagus and stomach can also be affected.Endoscopy is useful to locate the site and extent of the lesions,and tissue biopsy is often warranted to examine the histopathology that is often suggestive of underlying vasculitis of small veins/venules or,alternatively in some cases,nonspecific inflammation.Bowel wall thickening is the most common finding on computed tomography scan.Treatment is largely empirical since well-controlled studies are difficult to conduct due to the heterogeneity of the disease,and the unpredictable course with exacerbation and remission.Corticosteroids with or without other immunosuppressive drugs,such as cyclophosphamide,azathioprine,sulfasalazine,tumor necrosis factor α antagonist or thalidomide should be applied before surgery,except in emergency.

  6. 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.

  7. Evaluation of leptin level and Ob gene polymorphism in patients with Behcet's disease.

    Science.gov (United States)

    Okudan, Nilsel; Acar, Hasan; Gökbel, Hakki; Mevlitoğlu, Inci; Sari, Fatih

    2006-08-01

    The present study was aimed to evaluate serum leptin level and the frequency of oligopolymorphic codon 25 (CAA/CAG) of Ob gene in Behcet's disease. Eighty-seven patients with Behcet's disease and 85 healthy controls with matched age, gender and body mass index were included in the study. Serum leptin level was determined and genotype of codon 25 of Ob gene was performed by using the PCR amplification after DNA extraction. Serum leptin concentration of the patients with Behcet's disease (23.8 +/- 22.8 ng/ml) was higher than that of the control groups (17.1 +/- 14.7 ng/ml). The patients with Behcet's disease and control subjects showed CAA/CAA genotype, indicating the presence of no polymorphism. Neither Behcet's disease nor serum leptin level was found to be related to codon 25 polymorphism. We concluded that leptin 25CAG polymorphism is not associated with Behcet's disease and serum leptin level.

  8. 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.

  9. Neuro-Behcet's disease showing severe atrophy of the cerebrum.

    Science.gov (United States)

    Miyakawa, T; Murayama, E; Deshimaru, M; Shikai, I; Kozuma, S

    1976-03-15

    A 38-year-old female died 6 years after the onset of what was, clinically and histopathologically, consistent with neuro-Behcet's disease. Pathologically the cerebrum showed severe atrophy. The main changes were observed in the grey and white matter, the diencephalon and the basal ganglia by light microscopy. All these changes originated in softenings around blood vessels, especially small vessels or capillaries. These foci fused together to form large regions of softening. Glial or mesenchymal reactions were minimal. In the white matter there was slight perivascular-infiltration, mainly consisting of lymphocytes. In view of these findings, it is suggested that these changes were caused by an allergic vasculitis. The present case of Neuro-Behcet's disease is the first one showing general atrophy of the cerebrum. It is very important in relation to demyelinating encephalitis.

  10. 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.

  11. 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

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

    Directory of Open Access Journals (Sweden)

    Maria Teresa Alves Hirata

    1987-06-01

    Full Text Available 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.

  13. 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.

  14. 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

  15. 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.

  16. 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.)

  17. 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.

  18. Behcet's disease: demographic and genetic aspects (a literature review

    Directory of Open Access Journals (Sweden)

    Fatima Ismailovna Izmailova

    2014-01-01

    Full Text Available A review of literature focused on Behcet's disease (BD is presented. BD is systemic vasculitis of unknown etiology affecting multiple organs. BD is endemic in the countries along the Eastern Mediterranean coast and the areas of Central and East Asia. We report the data on BD prevalence in different regions and the effect of population migration on BD incidence rate. Patients were found to be younger at the onset of the disease in Arab countries, Turkey, and Israel (19.9; 25.6; and 26 years, respectively than those in East Asia countries (31.7 years. We summarized the data attesting to the genetic susceptibility in BD patients: HLA B51-positive individuals, family aggregation observed when studying twins, etc. The clinical polymorphism in BD patients was shown to depend on their region of residence and ethnicity. The data of a series of large cohort studies are reported; the frequencies of the international criteria of BD in the US and Japanese patients are compared in these studies. The question regarding the need for cross-sectional population-based and case-control studies using the standard criteria and clear definition of ethnicity is brought up in some publications.

  19. Behcet's disease: demographic and genetic aspects (a literature review

    Directory of Open Access Journals (Sweden)

    Fatima Ismailovna Izmailova

    2014-03-01

    Full Text Available A review of literature focused on Behcet's disease (BD is presented. BD is systemic vasculitis of unknown etiology affecting multiple organs. BD is endemic in the countries along the Eastern Mediterranean coast and the areas of Central and East Asia. We report the data on BD prevalence in different regions and the effect of population migration on BD incidence rate. Patients were found to be younger at the onset of the disease in Arab countries, Turkey, and Israel (19.9; 25.6; and 26 years, respectively than those in East Asia countries (31.7 years. We summarized the data attesting to the genetic susceptibility in BD patients: HLA B51-positive individuals, family aggregation observed when studying twins, etc. The clinical polymorphism in BD patients was shown to depend on their region of residence and ethnicity. The data of a series of large cohort studies are reported; the frequencies of the international criteria of BD in the US and Japanese patients are compared in these studies. The question regarding the need for cross-sectional population-based and case-control studies using the standard criteria and clear definition of ethnicity is brought up in some publications.

  20. Maldi-Tof /Tof-MS Reveals Elevated Serum Haptoglobin and Amyloid A in Behcet's Disease

    NARCIS (Netherlands)

    Mao, L.; Dong, H.; Yang, P.; Zhou, H.; Huang, X.; Lin, X.; Kijlstra, A.

    2008-01-01

    Behcet¿s disease (BD) is a multisystemic autoimmune disease with unclear etiology and pathogenesis. To screen aberrant serum proteins in BD, serum samples were obtained from eight male BD patients with active uveitis and eight male healthy volunteers with informed consent. The serum samples from act

  1. 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.

  2. 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

  3. 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.

  4. 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.

  5. 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.)

  6. 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.

  7. Serial Ultrasonography Assessments of a Testicular Infarction Mimicking Testicular Tumor in a Behcet Disease Patient

    Directory of Open Access Journals (Sweden)

    Zeid Al-Ani

    2014-03-01

    Full Text Available Behcet disease (BD, a vasculitic disease, may present with a broad range of systemic manifestations. Urologic complications are rarely described in the literature, but when they occur, they present as epididymo-orchitis. We describe a rare case of testicular infarction in a patient with BD followed up with serial ultrasound imaging. We highlight the diagnostic challenges when presented with testicular pain in a patient with BD and the potential consequences in the management.

  8. 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 ...

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. Cytomegalovirus colitis in a patient with Behcet's disease receiving tumor necrosis factor alpha inhibitory treatment

    Institute of Scientific and Technical Information of China (English)

    Ismail Sari; Merih Birlik; Can Gonen; Server Akar; Duygu Gurel; Fatos Onen; Nurullah Akkoc

    2008-01-01

    Anti-tumor necrosis factor alpha (TNF-α) inhibitors are effective in the treatment of various inflammatory rheumatic conditions. Increased risks of serious infections are the major issues concerning the long-term safety of these agents. We present a case of a young male Behcet's patient whose disease was complicated by cytomegalovirus (CMV) colitis. Colitis started 10 d after the third Infliximab dose and responded to the cessation of TNF blocking treatment and administration of ganciclovir. Tumor necrosis factor alpha and interferon gamma act at several levels in combating viral infections.CMV infections should be kept in mind and included in the differential diagnosis of severe gastrointestinal symptoms in patients receiving anti-TNF agents.

  15. Characteristics of Macular Edema in Behcet Disease after Intravitreal Bevacizumab Injection

    Science.gov (United States)

    Ghassemi, Fariba; Mirak, Sohrab Afshari; Chams, Hormoz; Sabour, Siamak; Ahmadabadi, Mehdi Nilli; Davatchi, Fereidoun; Shahram, Farhad

    2017-01-01

    Purpose: To investigate the effect of intravitreal bevacizumab (IVB) injection on macular edema (ME) secondary to Behcet's disease. Methods: This prospective case series included 15 patients with bilateral ME due to Behcet's disease. Intravitreal bevacizumab was injected into the more severely involved eye; the contralateral eye was evaluated as the control. Patients were followed up with comprehensive ocular examination, optical coherence tomography, and fluorescein angiography (FA) for a minimum of 6 months by a single ophthalmologist. Results: Patients with a mean age of 30.6 ± 7.4 years received a mean number of 3.3 IVB injections during the 6 months. The mean preinjection vision was 0.6 ± 0.3 and 0.4 ± 0.4 LogMAR in the case and control groups, respectively, with no significant improvement at 6 months. Mean central foveal thickness was 375.3 ± 132.1 and 307.2 ± 84.5 μm in the case and control groups, respectively, and these changed to 401 ± 199.9 (P = 0.65) and 307.7 ± 82.8 μm (P = 0.73) at month 6, respectively. A statistically nonsignificant improvement in ME was observed during the first 3 months in the case group. However, it did not persist up to month 6 on an as-needed basis. IVB injections caused a disproportionate decrease in the thickness of macular subfields. A reduction in disc leakage was observed on FA (P = 0.058). Logistic regression analysis revealed no statistically significant predictive factor for an improvement in visual acuity (VA) and a reduction in foveal thickness. Conclusion: During a 6-month period, IVB injections based on an as-needed protocol provided no statistically significant improvement in VA and ME. PMID:28299006

  16. MR findings of neuro-Behcet's disease: initial and follow-up changes

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    Kim, Hyun Beom; Chang, Ki Hyun; Kim, Hong Dae [College of Medicine, Hallym University, Seoul (Korea, Republic of); Han, Moon Hee; Kang, Heung Sik; Lee, Joon Woo; Yu, In Kyu [College of Medicine and the Institute of Radiation Medicine, Seoul National University, Seoul (Korea, Republic of); Seong, Su Ok [Cheonju St. Mary' s Hospital, Cheongju (Korea, Republic of); Kim, Hyung Seok [Cheju Medical Center, Cheju (Korea, Republic of)

    2000-08-01

    To evaluate the MR findings of neuro{sub B}ehcet's disease, and changes occurring during follow up. Brain MR imaging was performed in 19 patients in whom neuro-Behcet's disease had been clinically diagnosed. After treatment with corticosteroids and immunosuppressive agents, 23 follow-up MR images were obtained in 12 patients, and a total of 42 MR images were retrospectively reviewed by two radiologists. Of the 19 patients, 17 (89%) had parenchymal lesions, and the other two had dural venous sinus thrombosis. Among the 17 patients with parenchymal lesions, three showed leptomeningeal enhancement. A total of 72 parenchymal lesions were detected on initial MR images; 55 (76%) were patchy or nodular in shape and the lesion of the internal capsule appeared linear. Seventeen lesions (24%) in 12 patients were confluent. In order of frequency, the involved sites were the pons, midbrain, thalamus, basal ganglia, internal capsule, and frontal lobe. Thirteen lesions of 39 lesions detected on postcontrast images were enhanced, and a mass effect was seen in the area of 16 parenchymal lesions. Associated findings were microhemorrhage of the brain in two patients and spinal cord involvement in one. On short-term follow-up images obtained 1 week to 2 months after intensive treatment during the acute stage of the illness, the leptomeningeal enhancement seen in three patients had decreased and most parenchymal lesions showed improvement. Long-term follow-up images obtained 3 months to 3 years late showed that parenchymal lesions had relapsed in five patients, and brainstem atrophy had developed or progressed in five others. The most characteristic MR finding of neuro-Behcet's disease is multiple non-hemorrhagic lesions involving the brainstem. Leptomeningeal enhancement and dural venous sinus thrombosis may also be noted. On follow-up MR, the lesions may show either improvement or aggravation, and brainstem atrophy is not uncommon. (author)

  17. Evaluation of neuro-Behcet disease with {sup 99m}Tc-HMPAO brain SPECT. Comparison with MR imaging

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    Kikuchi, Yoshirou; Oshima, Motoo; Sasaki, Yasushi [Teikyo Univ., Tokyo (Japan). Faculty of Medicine] [and others

    1997-07-01

    The purpose of this study was to evaluate the brain perfusion of neuro-Behcet disease using {sup 99m}Tc-HMPAO. In total, nine patients (7 men and 2 women) were evaluated. Seven were in the chronic phase, one was acute and the other was subacute. The results of perfusion study were compared with the MRI findings. The findings of chronic-phase neuro-Behcet disease were as follows: {sup 99m}Tc-HMPAO showed hypoperfusion of the cerebellum in 3, brain stem in 5, and cerebral cortex in 4 patients. Moreover, asymmetry of the basal ganglia and thalamus was seen in 4 cases with {sup 99m}Tc-HMPAO. MRI showed atrophy of the cerebellum in 4, brain stem in 5 and cerebral cortex in 2 patients. One acute patient showed a perfusion defect with {sup 99m}Tc-HMPAO that was consistent with the vasculitis shown with MRI. In the remaining subacute patient, perfusion defect was demonstrated with {sup 99m}Tc-HMPAO, consistent with the infarction shown with MRI. It is concluded that brain perfusion scintigraphy is useful to evaluate the brain blood flow of neuro-Behcet disease. (author)

  18. Behcet's disease.

    Science.gov (United States)

    Nair, Jagdish R; Moots, Robert J

    2017-02-01

    Behçet's disease (BD) is a chronic relapsing and remitting vasculitis of unknown aetiology. It has the capacity to affect almost all organ systems because of its potential to involve both arteries and veins of all sizes, resulting in significant organ-threatening morbidity and mortality. Traditionally known as the 'silk road' disease, it has a worldwide occurrence. The aetiopathological mechanisms of disease development in BD remain poorly understood, but genome wide studies show human leukocyte antigen and non-human leukocyte antigen associations. Environmental influences and genetic factors may have a role in the aetiopathogenetic mechanisms that lead to development of the disease, indicating the autoimmune and auto-inflammatory nature of BD. The evidence base for treatment is limited but new knowledge is emerging and current treatment options range from symptomatic treatment, through to non-biological and biological immunosuppressive drugs, to cover the spectrum of clinical manifestations.

  19. Behcet's Disease

    Science.gov (United States)

    ... to stop taking the medicine suddenly, because the medicine alters the body’s production of the natural corticosteroid hormones. Long-term use of these medications can have side effects such as osteoporosis (a disease that leads to bone fragility), weight gain, delayed ...

  20. Mucosal lesions may be a minor complication of SAPHO syndrome: a study of 11 Japanese patients with SAPHO syndrome.

    Science.gov (United States)

    Yabe, Hiroki; Ohshima, Hisaji; Takano, Yoji; Koyanagi, Takahiro; Usui, Hiroshi; Nojiri, Kenya; Ochi, Kensuke; Kihara, Michiya; Horiuchi, Yukio

    2010-08-01

    Since the term synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome was proposed by Chamot et al. (Rev Rhum Mal Osteoartic 54:187-196, 1987), clinical reviews concerning this syndrome have been mainly reported from Europe. We carried out a retrospective analysis of 11 Japanese patients with SAPHO syndrome, and reviewed the clinical features of our series in comparison with those in a European large case study. In this study the major features of SAPHO syndrome were chronic osteitis of the anterior chest wall and pustulotic arthro-ostitis with middle age onset, and mucosal lesions seemed to be a minor complication of SAPHO syndrome. The non-erosive peripheral large joints arthritis and the particular HLA types (HLA-B51, B52, or A26), which had been reported to be increased in Behcet's disease, were frequently seen in SAPHO syndrome with mucosal lesions. This study also suggests that SAPHO syndrome with mucosal lesions may be part of a broader disease spectrum including Behcet's disease.

  1. Chinese Medicine in the Treatment of Behcet's Disease's Uveitis: A Case Report

    Institute of Scientific and Technical Information of China (English)

    ZHOU Wan-yu; ZHANG Hong; ZHUANG Zeng-yuan

    2012-01-01

    IntroductionBehcet's disease (BD) is an multi-system inflammatory vasculitis based on small and large vessels of the venous and arterial system.(1) About 80% of BD patients have ocular lesions characterized by recurrent iridocyclitis,retinal vasculitis,and retinal ischemia.Frequent recurrence of these lesions,leading to macular edema and optic atrophy,can eventually result in severe loss of vision.(2,3) Western medicine treatment focuses on steroid and immunosuppressive agents;however,the reduction of medication dose can lead to relapse,which is a difficult problem in clinical practice.Prof.ZHUANG Zeng-yuan from the Eye Hospital of China Academy of Chinese Medical Sciences has long been engaged in Chinese medicine (CM) treatment of BD's uveitis.Based on the clinical observation,he has accumulated a number of cases on the disease pathogenesis,diagnosis,and treatment,as well as prescriptions,which made it possible to have a systematic summary of the proper way to treat the disease.(4,5)

  2. A New Diagnostic Way for Behcet's Disease: Skin Prick with Self-Saliva

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    Fumio Kaneko

    2014-01-01

    Full Text Available Behcet's disease (BD is a mysterious multisystemic disorder characterized by recurrent involvement of mucocutaneous (including recurrent aphthous stomatitis; RAS, ocular, intestinal, vascular, and/or nervous system organs. Previously, the positivity of “pathergy test”, which is one of the diagnostic examinations, was reported to be related to the possession of HLA-B51 gene in BD patients, even though the positivity is low and different from the countries. Here, instead of the ordinal pathergy test, we would like to propose the prick with self-saliva as a new diagnostic way for patients with RAS of BD based on the genetic intrinsic factors including HLA-B51 and extrinsic triggering factors. BD patients are considered to acquire the hypersensitivity against oral streptococci through the innate immune mechanism in the oral cavity. Bes-1 gene and 65 kD of heat shock protein (HSP-65 derived from oral S. sanguinis are supposed to play important roles as extrinsic factors in BD pathogenesis. Although the prick positivity was not related to the possession of HLA-B51 gene, the method is suggested to be a significant way for BD diagnosis. The results also suggest that BD symptoms are due to the vascular immune responses by monocytes expressed oral streptococcal agents of the patients.

  3. 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.

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

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    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.

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

    Science.gov (United States)

    Ahn, Joong Kyong; Kim, Sooah; Kim, Jungyeon; Hwang, Jiwon; Kim, Kyoung Heon; Cha, Hoon-Suk

    2015-01-01

    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.

  6. 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.

  7. A case of Behcet's disease with aneurysms of common carotid arteries and abdominal aorta

    Energy Technology Data Exchange (ETDEWEB)

    Choo, Yeon Myung; Chang, Kee Hyun; Choi, Sung Jae [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-06-15

    One case of Behcet's disease with multiple aneurysms in both common carotid arteries and abdominal aorta is presented with brief review of the literatures. A 26-year-old woman had slowly enlarging pulsatile masses in both sides of neck and recurrent ulcerations in oral cavity and genitalia. One day prior to admission, aphasia, right facial nerve palsy and right hemiplegia suddenly developed. Brain CT showed acute infarction in left basal ganglia. Both Carotid Angiography and abdominal Aortography demonstrated multiple aneurysms in both common carotid arteries and abdominal aorta with organizing thrombi and thromboembolism of internal carotid artery.

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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

  11. 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.

  12. Behcet's disease presenting with sudden-onset paraplegia due to anterior spinal artery involvement: 1-year follow-up of rehabilitation in conjunction with medication.

    Science.gov (United States)

    Duman, Iltekin; Guzelkucuk, Umut; Tezel, Kutay; Aydemir, Koray; Yılmaz, Bilge

    2013-06-01

    A 26-year-old male patient with sudden-onset paraplegia was presented. Clinical and imaging evaluation revealed isolated spinal cord lesions at thoracal levels and anterior spinal arterial involvement. Diagnosis of Behcet's disease was established with associating clinical findings with medical history. Vigorous medication and rehabilitation program were performed. Through the 1-year rehabilitation period in conjunction with medication, strength and functions improved gradually. A satisfactory functional gain as a rehabilitative goal in independence in activities of daily living and long-distance ambulation achieved around 4 months. The patient reached full independence after 1-year. As conclusion, Behcet's disease can present with sudden-onset paraplegia. In case of no evident etiology for paraplegia in young male, neuro-Behcet's disease also should be kept in mind. Contrary to assumption, early aggressive treatment and continuous rehabilitation in conjunction with medication might provide good prognosis with excellent clinical outcome in spinal cord involvement. Satisfactory functional recovery should be expected only after 3-4 months, and complete independence can be achieved after 1 year.

  13. 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

    Directory of Open Access Journals (Sweden)

    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

  14. 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.

  15. 宋欣伟从“火毒”论治白塞病临证经验%Song Xinwei's Experience in Behcet Disease from "Fire Toxin"

    Institute of Scientific and Technical Information of China (English)

    徐琼; 宋欣伟; 鲍宝生

    2013-01-01

    Objective] To sum up Song Xinwei's academic ideas and clinical experience in diagnosing and treating behcet disease. [Method] It expounds his academic ideas and clinical experience on behcet disease from causa morbi, mechanism, therapy and prescription and classical cases, tested with classical cases. [Result] The disease is of excessive disease, concerning to kidney later, deficient in the root and excessive superficial, thereof, forming the treating rule of removing fire and toxin, inducing fire to the origin. [Conclusion] Song Xinwei's experience in treating behcet disease is effective and worthy pro-motion.%  [目的]总结宋欣伟教授诊疗白塞病的学术观点和临床经验。[方法]分别从病因病机、临床表现、治法方药、典型病案方面论述了宋欣伟教授诊疗白塞病的学术观点和临床经验,并附典型病案以验证。[结果]本病的发病病机是实证,久则及肾,本虚标实,根据以上病因病机,形成了以泻火解毒及引火归元为主的治则。[结论]宋欣伟教授诊疗白塞病的经验临床上行之有效,具有推广应用价值。

  16. 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

  17. 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.

  18. The assessment of cardiac functions by tissue Doppler-derived myocardial performance index in patients with Behcet's disease.

    Science.gov (United States)

    Tavil, Yusuf; Ozturk, Mehmet Akif; Sen, Nihat; Kaya, Mehmet Gungor; Hizal, Fatma; Poyraz, Fatih; Turfan, Murat; Onder, Meltem; Gurer, Mehmet Ali; Cengel, Atiye

    2008-03-01

    Vascular involvement is one of the major characteristics of Behcet's disease (BD). However, there are controversial findings regarding cardiac involvement in BD. Although early reports demonstrated that there is diastolic dysfunction in BD, conflicting results were found in the following trials. Hence, a new method for more objectively estimating the cardiac functions is needed. For this aim, we used high-usefulness tissue Doppler echocardiography for detailed analysis of cardiac changes in BD patients because this method was superior to other conventional echocardiographic techniques. The study population included 42 patients with BD (19 men, 23 women; mean age, 35 +/- 10 years, mean disease duration, 2.7 +/- 1.6 years) and 30 healthy subjects (14 men, 16 women; mean age, 38 +/- 7 years). Cardiac functions were determined using echocardiography, comprising standard two-dimensional and conventional Doppler and tissue Doppler imaging (TDI). Peak systolic myocardial velocity at mitral annulus, early diastolic mitral annular velocity (Em), late diastolic mitral annular velocity (Am), Em/Am, and myocardial performance index (MPI) were calculated by TDI. The conventional echocardiographic parameters and tissue Doppler measurements were similar between the groups. Tissue Doppler derived mitral relaxation time was longer (75 +/- 13 vs 63 +/- 16 msn, p = 0.021) in patients with BD. There was statistically significant difference between the two groups regarding left ventricular MPI (0.458 +/- 0.072 vs 0.416 +/- 0.068%, p = 0.016), which were calculated from tissue Doppler systolic time intervals. There was also significant correlation between the disease duration and MPI (r = 0.38, p = 0.017). We have demonstrated that tissue Doppler-derived myocardial left ventricular relaxation time and MPI were impaired in BD patients, although systolic and diastolic function parameters were comparable in the patients and controls.

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

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    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.

  20. 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

  1. [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.

  2. Tratamento endovascular de aneurismas da aorta em pacientes com doença de Behçet: relato de dois casos Endovascular treatment of aortic aneurysms in patients with Behcet's disease: report of two cases

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    Sergio Quilici Belczak

    2010-06-01

    Full Text Available A doença de Behçet, uma vasculite sistêmica de causa desconhecida, pode ser causa de doença aneurismática da aorta em alguns portadores dessa patologia. Nós apresentamos nossa experiência com dois casos de aneurismas aórticos em pacientes com doença de Behçet submetidos à terapêutica endovascular, descrevendo seus respectivos seguimentos. A terapêutica atual, a patofisiologia e os critérios diagnósticos vigentes foram revisados. Concluímos que a técnica endovascular é uma excelente opção terapêutica para certos pacientes com doença de Behçet e que esta deve ser acompanhada de tratamento imunossupressivo adequado.Behcet's disease, a systemic vasculitis of unknown etiology, may be the cause of aortic aneurysmal diseases in some patients. We report our experience with two Behcet's disease patients who presented with aortic aneurysms and were submitted to endovascular therapy, and describe their respective follow-ups. Current pathophysiology, diagnosis, and treatment approaches were reviewed. Our experience suggests that the endovascular approach, combined with adequate immunosuppressive treatment, is an excellent therapeutic option for some patients with Behcet's disease suffering from aneurysms.

  3. 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

  4. 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.

  5. 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.

  6. 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.

  7. 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%)

  8. 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

  9. Hypericum perforatum modulates apoptosis and calcium mobilization through voltage-gated and TRPM2 calcium channels in neutrophil of patients with Behcet's disease.

    Science.gov (United States)

    Nazıroğlu, Mustafa; Sahin, Mehmet; Ciğ, Bilal; Aykur, Mehmet; Erturan, Ijlal; Ugan, Yunus

    2014-03-01

    Behcet's disease (BD) is a chronic, inflammatory, and multisystemic condition although its pathogenesis is uncertain. Main component of St. John's wort (Hypericum perforatum, HP) is hyperforin and induces antiinflammatory and antioxidant properties. We aimed to investigate effects of HP on oxidative stress, apoptosis, and cytosolic-free Ca²⁺ [Ca²⁺](i) concentration in neutrophil of BD patients. Nine new-diagnosed active patients with BD and nine control subjects were included in the study. Disease activity was considered by clinical findings. Neutrophil samples were obtained from the patients and controls. The neutrophils from patients were divided into three subgroups and were incubated with HP, voltage-gated calcium channel (VGCC) blockers, (verapamil+dilitiazem) and non-specific TRPM2 channel blocker (2-aminoethyl diphenylborinate, 2-APB), respectively. The neutrophils were stimulated by fMLP as a Ca²⁺-concentration agonist and oxidative stress former. Caspase-3, caspase-9, apoptosis, lipid peroxidation, and [Ca²⁺](i) values were high in the patient groups, although cell viability, glutathione (GSH), and glutathione peroxidase (GSH-Px) values were low in patient group. However, the [Ca²⁺](i), caspase-3, and caspase-9 values decreased markedly in patient+HP group although GSH and GSH-Px values increased in the group. The [Ca²⁺](i) concentration was also decreased in the patient group by V+D, 2-APB, and HP incubations. In conclusion, we observed the importance of neutrophil Ca²⁺ entry, apoptosis, and oxidative stress through gating VGCC and TRPM2 channels in the neutrophils in the pathogenesis and activation of the patients with BD. HP induced protective effects on oxidative stress by modulating Ca²⁺ influx in BD patients.

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

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    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.

  11. Genetic Variation in the REL Gene Increases Risk of Behcet's Disease in a Chinese Han Population but That of PRKCQ Does Not.

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    Feilan Chen

    Full Text Available Genome-wide association studies (GWAS and candidate gene studies have identified the REL and PRKCQ genes as risk loci for various autoimmune diseases. The purpose of the present study was to investigate the association of the REL and PRKCQ genes with Behcet's disease (BD in a Chinese Han population. A case-control study was conducted on three single nucleotide polymorphisms (SNPs, rs13031237, rs702873, and rs842647 of the REL gene and three SNPs (rs4750316, rs11258747, and rs947474 of the PRKCQ gene using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP in a total of 623 BD patients and 1,074 healthy controls. Multiple variables were assessed, including age, sex distribution, and extra-ocular findings. In the present study, the frequencies of rs842647 GG genotypes and rs842647 G alleles were significantly higher in patients than in controls and those of the rs842647 AG genotypes were lower in patients than in controls [GG genotype: Bonferroni corrected P-value for gender adjustment (Pc(a = 0.0074, odds ratio (OR = 1.63; G allele: Pc(a = 0.0072, OR = 1.57; AG genotype: Pc(a = 0.024, OR = 0.63, respectively]. No statistically significant differences in the frequencies of rs702873, rs13031237, rs4750316, rs11258747, and rs947474 between BD patients and controls were observed. Stratification analysis indicated that the REL rs842647 polymorphism was associated with BD patients with skin lesions. No significant association of the other five SNPs between BD patients with other extra-ocular findings, including genital ulcer, arthritis, and positive pathergy test results was found. The REL rs842647 polymorphism may be a susceptibility factor for BD pathogenesis and skin lesions, which indicate that c-Rel may be involved in the pathogenesis and skin lesions of BD through the NF-κB pathway.

  12. Case of neuro-Behcet syndrome with brainstem lesions confirmed by MRI. Relationship between X-ray CT and MRI findings and neurological symptoms

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    Takizawa, Shunya; Haida, Munetaka; Ohsuga, Hitoshi; Takagi, Shigeharu; Shinohara, Yukito

    1988-03-01

    A 49-year-old man presented with a 30-year history of oral and genital aphthous ulcers and joint pain. One day before his admission he developed double vision and weakness in the right extremities. Neurological examination revealed right 5th nerve palsy, left 6th to 18th nerve palsy, left Horner's sign, and motor and sensory impairment in the right upper and lower extremities. X-ray CT showed diffuse, weak, low-density areas in the brainstem. T1 weighted images showed low signals in the left side of the mid-pons, the left tegmentum and the right basis of the upper pons, and the left tegmentum of the midbrain. T2 weighted images showed high signals in the whole pons and the left side of the midbrain. MRI allowed the differentiation of reversible lesions, such as brain edema, and irreversible lesions, such as necrosis and demyelination of the tissue. (Namekawa, K.).

  13. [Neurologic and psychiatric syndromes of rare para-rheumatic diseases (author's transl)].

    Science.gov (United States)

    Gottwald, W

    1977-03-01

    In Wegener's granulomatosis peripheral nerves are more often involved than central nervous structures; functional psychoses are secondary e.g. to renal complications. Neurologic-psychiatric symptoms are varied and result from local spread from the upper respiratory tract with separate granulomata and vasculitis. Striped muscle is involved in about 10% of cases. Specific vegetative disturbances of function do not appear to occur. This is also true for Granuloma gangrenescens. Its multicentric inflammatory, ulcerating and necrotic foci involve midline structures and often start at the anterior neuroporus. Becet's disease, however, shows clear characteristic localisation, symmetry of various dermatologic phenomena in the extremities and the almost obligatory involvement of mouth, stomach and the genitals and their surroundings. This one may assume to be due to a mesencephalic parasympathicotonic reaction as the basis for the occurrence of perioral and acro-syndroms after Fischer-Brügge and Sunder-plassmann. Some similarity with the localization of other collagenous diseases is evident. The anterior basal ganglia represent a favored focus where e.g. initial, imcomplete and readily recurrent processes, possibly of an exsudative nature, may start off neurovascular changes of limited areas without necessarily producing clinically detectable signs of the usual neurologic-psychiatric type. In Behcet's disease, rather as in scleroderma, the nervous system appears to be decisively involved. About one third of the cases show changes in the nervous system ("Neuro-Behcet" in the usual sense) with little peripheral signs and rare myositis. But Behcet's disease may also-like erythematodes or progressive sclerodermia-simulate a disseminated encephalomyelitis. The pathogenetic factors of Reiter's syndrome appear to be closely related. The relatively constant main symptoms are also localized and permit the conclusion that they depend on vasomotorically linked innervation of the

  14. 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

  15. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  16. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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, ...

  4. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  5. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  6. Postoperative Nursing of Valve Replacement due to Mitral Valve Prolapse in One Patients with Behcet Disease%白塞病致二尖瓣脱垂行瓣膜置换术患者一例的术后护理

    Institute of Scientific and Technical Information of China (English)

    缪巧英; 朱丽萍; 张艳华

    2013-01-01

    目的 探讨白塞病致二尖瓣脱垂行瓣膜置换术患者的术后护理方法.方法 回顾性分析2011年12月浙江省嘉兴市第一医院收治的1例白塞病致二尖瓣脱垂行瓣膜置换术患者的病例资料,并总结临床护理方法.结果 患者术后恢复良好,术后4个月复查超声心动图未发现瓣周漏,人工机械瓣功能良好.结论 严密观察白塞病致二尖瓣脱垂行瓣膜置换术术后患者的病情变化、及时发现并处理各种并发症、重视激素治疗的护理及相关健康指导,对提高手术治疗效果有重要作用.%Objective To explore the postoperative nursing of valve replacement due to mitral valve prolapse in one patient with Behcet disease. Methods Retrospective analysis of one patient with mitral valve prolapse caused by Behcet disease treated in December, 2011 in the first hospital of Jiaxing. The clinical nursing experiences were summarized. Results The patient recovered well,and no perivalvular leakage was found in echocardiography at his 4-month follow-up postoperatively, the mechanical valve prosthesis was in good condition. Conclusion Strict observation of the disease, timely detection and handling of different complications,nursing of hormonal therapy and related health guidance played an important role in effects of surgical treatment in postoperative nursing of valve replacement due to mitral valve prolapse in patients with Behcet disease.

  7. 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

  8. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  9. The Study of Ophthalmologic Involvement in 28 Behcet’s Syndrome Patients

    Directory of Open Access Journals (Sweden)

    M.M. Panahi

    2004-04-01

    Full Text Available Behcet’s syndrome is a generalized vasculitis with unknown cause. Acute recurrent iritis , retinal vasculitis , retinal hemorrhage , macular edema , retinal necrosis , ischemic optic neuropathy and vitritis are the most common ophthalmologic involvement. The aim of this study was to determine the frequency of ophthalmologic involvement in patients with Behcet syndrome who referred to ophthalmology clinic of Imam Khomeini hospital in Hamadan city during May 2002-February 2003. This research was a prospective cross-sectional study on 28 patients suffering from Behcet’s syndrome . All of the patients were examined by slit lamp and direct and indirect fundoscopy and evaluation of visual acuity. The required information from each patiens was recorded in a checklist. 19 patients were male and 9 patients were female. The most common age of the patients was the 4th decade. The first sign was oral involvement (64.3%. Ophthalmologic involvement was observed in 20 patients (71% overall. Cataract was in 8 patients , pigmentation of lens was in 3 patients and post subcapsular cataract in 2 patients, post synechia was in 11 patients , Ant.uveitis was in 2 patints, post uveitis was in 3 patients and panuveitis was in 8 patients , 3 patients had hypopyone , 11 patients had vitritis , 8 patients had ischemic optic neuropathy , 8 patients had retinal necrosis , 8 patients had retinal vasculitis , 5 patients had retinal hemorrhage and 5 patients had macular edema. Visual acuity of 5 patients was NLP (blindness due to Behcet’s syndrome. This study showed that Ant. uveitis and cataract had the high frequency and post. uveitis and panuveitis had low frequency and other manifestations of subjects approximately were equal compared with other reports.

  10. 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.

  11. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  12. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  13. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  14. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  15. 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 ...

  16. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  17. 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 ...

  18. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  19. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  20. Velocardiofacial Syndrome

    Science.gov (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  1. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  2. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  3. 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.

  4. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  5. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  6. Progress in IFN-α treatment of uveitis patients with Behcet's disease%IFN-α 治疗白塞病葡萄膜炎的新进展

    Institute of Scientific and Technical Information of China (English)

    蔡莉; 高玮; 王颖维; 王雨生

    2016-01-01

    白塞病(BD)是一种累及多系统、多器官的慢性、复发性、全身性疾病.由BD引起的葡萄膜炎是我国常见葡萄膜炎中重要的致盲类型,目前尚无根治方法.IFN-α是一种具有多种生物学效应的细胞因子,具有较强的免疫双向调节作用.近年来IFN-'被尝试用于治疗伴有眼部葡萄膜炎的BD患者,临床研究发现IFN-α治疗能够有效控制BD葡萄膜炎病情的发展,降低复发频率,对于反复发作、常规激素和免疫抑制剂治疗无效的BD葡萄膜炎患者,不失为一种较好的治疗选择;但其作用的机制、长期的治疗效果,仍需进一步的临床研究观察.%Behcet disease (BD) is a chronic,recrudescent,systemic disease which involves multi-organ.Uveitis caused by BD is a common type of uveitis inducing blindness in China.There is no radical cure for this kind of uveitis at present.IFN-α is a kind of cytokine which has multiple biological effects.It has a dual immunomodulatory activity,and has been applied to uveitis patients with BD disease in recent years.Clinical investigation has found IFN-α treatment is effective in controlling the progress of BD uveitis,reducing the frequency of disease recurrence.For the BD uveitis patients who are resistance to normal steroids and immunosuppressive drugs,IFN-α treatment will bring new hope.Otherwise,the mechanism and long-term effect of IFN-α treatment need more clinical studies.

  7. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  8. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  9. 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

  10. 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.

  11. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  12. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  13. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  14. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  15. Facts about Down Syndrome

    Science.gov (United States)

    ... Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a person ... in height as children and adults Types of Down Syndrome There are three types of Down syndrome. People ...

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    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.

  1. 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.

  2. 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 ...

  3. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  4. Wallenberg's Syndrome

    Science.gov (United States)

    ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ...

  5. 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.

  6. 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....

  7. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  8. 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

  9. 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.

  10. 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.

  11. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  12. 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

  13. 临床病例评析——口腔溃疡生殖器溃疡血尿蛋白尿%Renal Behcet's disease: a report of one case, with literature review

    Institute of Scientific and Technical Information of China (English)

    朱芳晓; 石韫珍; 张晓; 雷云霞; 刘双信; 梅平

    2011-01-01

    Objective To analyze the clinical features of renal involvement associated with Behcet's disease (BD) through 1 case and to make a review of the literature in order to early diagnose and cure in time,thus decrease misdiagnosis and mistreatment.Methods This is a retrospective study.The case was diagnosed with BD and the renal damage was confirmed by renal biopsy.The clinical features and histology features were analyzed.Results The presentation of renal disease was edema,proteinuria and microscopic hematuria.The clinical spectrum of renal BD showed a wide variation.Amyloidosis (AA type),GN (nephritis),and microscopic vascular disease were the main causes of renal BD.Patients with vascular involvement had a high risk of amyloidosis and amyloidosis was the most common cause of renal failure in BD.Conclusion Kidney is one of the organs that can alter the prognosis of the BD,so the screening for renal damage must be done for each patient with this disease.Routine urine analysis and measurement of serum creatinine level are needed for early diagnosis of renal BD.Immunosuppressive drugs can be useful in selected cases.%目的 探讨白塞病肾损害的临床特点,以便早期诊断、及时治疗、有效减少误诊误治.方法 在总结我院诊治1例白塞病肾损害临床经验的基础上,分析白塞病肾损害的临床及肾脏病理特征.结果 白塞病肾损害临床可表现为水肿、蛋白尿、镜下血尿;白塞病肾损害病理类型为肾脏淀粉样变性、肾小球肾炎、肾血管病变、间质性肾炎等;肾淀粉样变性、肾小球肾炎和肾血管病变是引起白塞病肾损害的主要原因;白塞病肾损害肾淀粉样变性患者最常出现肾功能衰竭.结论 白塞病肾损害是预测白塞病预后的重要因素,定期对白塞病患者行尿常规、肾功能及肌酐清除率检查,利于白塞病肾损害的早期诊断;免疫抑制剂治疗白塞病肾损害效果良好.

  14. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  15. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  16. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  17. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  18. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  19. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  20. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  1. Zellweger Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  2. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  3. [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.

  4. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  5. [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.

  6. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  7. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  8. Gardner Syndrome

    Science.gov (United States)

    ... or central nervous system tumor less than 1% Stomach cancer 0.5% Bile duct cancer small, but increased Adrenal gland cancer small, but increased What are the screening options for Gardner syndrome? The screening options for ...

  9. Metabolic syndrome

    Science.gov (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  10. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  11. Turner Syndrome

    Science.gov (United States)

    ... in the inner layer of the aorta (aortic dissection). A defect in the valve between the heart ... Turner syndrome are at increased risk of aortic dissection during pregnancy, they should be evaluated by a ...

  12. Eagle's Syndrome

    OpenAIRE

    Pinheiro, Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  13. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  14. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  15. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  16. Cardiac Syndrome X

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  17. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  18. Down Syndrome (For Kids)

    Science.gov (United States)

    ... continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can't ... have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome go to regular ...

  19. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  20. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome Print A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  1. 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.

  2. [Serotonin syndrome].

    Science.gov (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M

    2002-10-01

    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  3. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...

  4. 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.

  5. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  6. 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.

  7. 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.

  8. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  9. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  10. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  11. [PFAPA syndrome].

    Science.gov (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  12. 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.

  13. 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.

  14. Eisenmengers syndrom

    DEFF Research Database (Denmark)

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

    2009-01-01

    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......-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...

  15. 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.

  16. [Wilkie's syndrome].

    Science.gov (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  17. 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

  18. 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.

  19. 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).

  20. 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.

  1. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

  2. Dumping Syndrome

    Science.gov (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  3. Sotos Syndrome

    Science.gov (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  4. Reifenstein syndrome

    Science.gov (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  5. 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.

  6. 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....

  7. [Waardenburg's syndrome].

    Science.gov (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  8. Waardenburg's syndrome.

    Science.gov (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  9. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  10. Aicardi Syndrome

    Science.gov (United States)

    ... such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias , which are groups of brain cells that, during development, migrated to the wrong area ...

  11. 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

  12. 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.…

  13. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  14. 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.

  15. 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

  16. Troyer Syndrome

    Science.gov (United States)

    ... atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene ...

  17. Caplan syndrome

    Science.gov (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  18. Brugada Syndrome

    Science.gov (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  19. [SAPHO syndrome].

    Science.gov (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  20. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  1. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber

    2014-01-01

    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  2. Short Bowel Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Short Bowel Syndrome What is Short Bowel Syndrome Short bowel syndrome is a group of problems ... between the stomach and large intestine. What causes Short Bowel Syndrome? The main cause of short bowel syndrome is ...

  3. 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…

  4. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  5. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  6. Parinaud's syndrome.

    Science.gov (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  7. 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.

  8. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  9. 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.

  10. 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.

  11. Postconcussional Syndrome

    OpenAIRE

    Necla Keskin; Lut Tamam

    2013-01-01

    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  12. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A

    1993-10-01

    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  13. [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.

  14. Gerstmann's syndrome.

    OpenAIRE

    Sukumar, S.; Ferguson, G C

    1996-01-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  15. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  16. What Causes Down Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  17. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  18. Blind Loop Syndrome

    Science.gov (United States)

    ... more commonly result from other conditions such as short bowel syndrome or chronic pancreatitis. Small intestine aspirate and fluid ... people with severe blind loop syndrome resulting in short bowel syndrome. References Townsend CM Jr, et al. Sabiston Textbook ...

  19. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, a ...

  20. 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.

  1. Kartagener syndrome

    Directory of Open Access Journals (Sweden)

    Nedaa Skeik

    2011-01-01

    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  2. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  3. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  4. 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.

  5. Raynaud's syndrome and carpal tunnel syndrome.

    OpenAIRE

    Waller, D G; Dathan, J R

    1985-01-01

    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  6. 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

  7. 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.

  8. 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.

  9. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    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 approximately 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 very severe

  10. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  11. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  12. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  13. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  14. 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.

  15. 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.

  16. 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

  17. 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.

  18. Down Syndrome (For Parents)

    Science.gov (United States)

    ... en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a ... rises to about 1 in 100. continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

  19. Sheehan's syndrome.

    Science.gov (United States)

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

    2013-04-01

    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  20. 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 (

  1. 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.

  2. Klinefelter syndrome.

    Science.gov (United States)

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  3. 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

  4. 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.

  5. 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

  6. Reproductive Health in Men and Women With Vasculitis

    Science.gov (United States)

    2014-06-25

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

  7. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi

    2013-04-01

    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  8. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  9. First Trimester Down Syndrome Screen

    Science.gov (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  10. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  11. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  12. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  13. Angelman Syndrome.

    Science.gov (United States)

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  14. Sheehan's Syndrome (Postpartum Hypopituitarism)

    Science.gov (United States)

    Sheehan's syndrome Overview By Mayo Clinic Staff Sheehan's syndrome is a condition that affects women who lose a life-threatening amount of blood in childbirth or who have severe low blood pressure ...

  15. 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

  16. 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 ...

  17. 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 ...

  18. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that ...

  19. 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 ...

  20. 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 ...

  1. Kleine-Levin Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  2. Locked-In Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  3. Holmes-Adie Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  4. Central Cord Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  5. Lennox-Gastaut Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  6. Tics and Tourette Syndrome

    Science.gov (United States)

    ... Children who have Tourette syndrome may also have learning disabilities or obsessive-compulsive disorder (thoughts or behaviors that ... my child who has tourette syndrome, involuntary movement, learning disabilities, learning disability, movement disorders, obsessive thoughts, obsessive-compulsive ...

  7. Organic brain syndrome

    Science.gov (United States)

    ... state Intoxication from drug or alcohol use Wernicke-Korsakoff syndrome (a long-term effect of excessive alcohol consumption ... Substance use Transient ischemic attack Vascular dementia Wernicke-Korsakoff syndrome Review Date 2/27/2016 Updated by: Amit ...

  8. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  9. Premenstrual Syndrome (PMS) FAQ

    Science.gov (United States)

    ... syndrome irritable bowel syndrome thyroid disease Depression and anxiety disorders are the most common conditions that overlap with PMS. About one half of women seeking treatment for PMS have one of these ...

  10. What Is Down Syndrome?

    Science.gov (United States)

    ... Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% ... are nearly 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester between ...

  11. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ...

  12. Hyperventilation and exhaustion syndrome

    OpenAIRE

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

    2014-01-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed ...

  13. 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.

  14. Williams Syndrome and Happiness.

    Science.gov (United States)

    Levine, Karen; Wharton, Robert

    2000-01-01

    Discussion of Williams syndrome, a genetic disorder with a variety of medical and developmental features, focuses on frequent outward expression of happiness. Analysis of the unique expression of happiness in individuals with Williams syndrome is followed by discussion of this happiness in the context of other dimensions of the syndrome,…

  15. Anisocoria and Horner's Syndrome

    Science.gov (United States)

    ... Asked Questions Español Condiciones Chinese Conditions Anisocoria and Horner's Syndrome En Español Read in Chinese What is ... the affected eye. What are the signs of Horner’s syndrome? In Horner’s syndrome, the pupil in the ...

  16. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  17. 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

  18. [Postpartum endocrine syndrome].

    Science.gov (United States)

    Ducarme, G; Châtel, P; Luton, D

    2008-05-01

    Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome.

  19. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  20. 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

  1. [Epidemiology of Asperger's syndrome].

    Science.gov (United States)

    Suzuki, Yukiko; Saito, Kazuhiko

    2007-03-01

    Only a little data is available so far on the prevalence of Asperger's syndrome. The prevalence that Fombonne (2003) estimated after considering six European research was 2/10,000. In Ishikawa's study (2006) conducted in Nagoya city, Japan, the prevalence of Asperger's syndrome was 56/10,000. Currently there are not strict diagnostic criteria of Asperger's syndrome and methods of investigation are not consistent in each study. Therefore the prevalence rate for Asperger's syndrome covered very wide range. Although we still don't have a precise prevalence data on Asperger's syndrome, the awareness of this syndrome emerged in these several decades tells us that further research and support for the children of Asperger's syndrome and their family are necessary.

  2. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  3. Do you know this syndrome? Leopard syndrome*

    Science.gov (United States)

    Cançado, Flávio Heleno da Silva Queiroz; da Silva, Luis Candido Pinto; Taitson, Paulo Franco; de Andrade, Ana Carolina Dias Viana; Pithon, Matheus Melo; Oliveira, Dauro Douglas

    2017-01-01

    Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome. PMID:28225973

  4. Basal cell nevus syndrome or Gorlin syndrome.

    Science.gov (United States)

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  5. 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.

  6. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  7. SAPHO syndrome associated spondylitis.

    Science.gov (United States)

    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-10-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy.

  8. 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. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  9. Toxic Shock Syndrome (For Teens)

    Science.gov (United States)

    ... Surgery? A Week of Healthy Breakfasts Shyness Toxic Shock Syndrome KidsHealth > For Teens > Toxic Shock Syndrome Print ... it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's had ...

  10. Genetics Home Reference: Laron syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Laron syndrome Laron syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Laron syndrome is a rare form of short stature that ...

  11. Genetics Home Reference: Klinefelter syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Klinefelter syndrome Klinefelter syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Klinefelter syndrome is a chromosomal condition that affects male physical ...

  12. Genetics Home Reference: Alport syndrome

    Science.gov (United States)

    ... Testing Registry: Alport syndrome, X-linked recessive Other Diagnosis and Management Resources (3 links) GeneReview: Alport Syndrome and Thin Basement Membrane Nephropathy MedlinePlus Encyclopedia: Alport Syndrome MedlinePlus Encyclopedia: End-Stage ...

  13. Genetics Home Reference: Asperger syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Asperger syndrome Asperger syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Asperger syndrome is a disorder on the autism spectrum, which ...

  14. Genetics Home Reference: Horner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Horner syndrome Horner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Horner syndrome is a disorder that affects the eye ...

  15. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (7 links) ...

  16. Down syndrome: An overview

    OpenAIRE

    Samuel Otabor Wajuihian

    2016-01-01

    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, epidemiolo...

  17. Lamotrigine induced DRESS syndrome

    Directory of Open Access Journals (Sweden)

    Kikkeri Narayanasetty Naveen

    2012-01-01

    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome is a rare and life-threatening delayed drug hypersensitivity reaction characterized by skin eruption, fever, lymphadenopathies, and visceral involvement. Here, we are presenting a 12 year old boy, who developed rare but life threatening DRESS syndrome due to Lamotrigine. Early detection and treatment led to his rapid recovery. This case is presented to highlight the importance of early detection of rare fatal syndrome.

  18. Alport's Syndrome in Pregnancy

    OpenAIRE

    Suchita Mehta; Chadi Saifan; Marie Abdellah; Rita Choueiry; Rabih Nasr; Suzanne El-Sayegh

    2013-01-01

    Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman ...

  19. 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...

  20. The carpenter syndrome phenotype.

    Science.gov (United States)

    Tarhan, Erkan; Oğuz, Haldun; Safak, Mustafa Asim; Samim, Erdal

    2004-03-01

    Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test.

  1. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  2. [Excretory azoospermia: Young's syndrome].

    Science.gov (United States)

    Arrufat, J M; Cervelló, E; Albella, F

    1980-01-01

    The authors present a case of excretory azoospermia, whose deferentovesiculography and surgical exploration of the epididymis were normal. The patient presented bronchio-estasis and sinusitis as a result of which he was diagnosed as suffering from Young's syndrome. The authors make a review of the current state of the problem stressing the differences between Young's syndrome and immobile cilia syndrome described by Eliasson and colls.

  3. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  4. Streptococcal toxic shock syndrome

    OpenAIRE

    Gvozdenović Ljiljana; Pasternak Janko; Milovanović Stanislav; Ivanov Dejan; Milić Saša

    2010-01-01

    Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella pre...

  5. Palmaris brevis spasm syndrome.

    OpenAIRE

    SERRATRICE, G.; Azulay, J.P.; Serratrice, J; Pouget, J

    1995-01-01

    Palmaris brevis spasm syndrome is a rare and benign condition of localised muscular hyperactivity. In five men, the hypothenar eminence underwent spontaneous, irregular, tonic contractions of the palmaris brevis muscle. An EMG showed spontaneous high frequency discharges of normal motor units, without evidence of neuropathy or of nerve compression. This syndrome resembles other restricted muscle hyperactivity syndromes although there are some differences. Curiously, the palmaris brevis muscle...

  6. SAPHO syndrome associated spondylitis

    OpenAIRE

    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa,Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-01-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship ...

  7. Learning about Cri du Chat Syndrome

    Science.gov (United States)

    ... Learning About Prostate Cancer Learning About Cri du Chat Syndrome What is cri du chat syndrome? What ... cri du chat syndrome What is cri du chat syndrome? Cri du chat syndrome - also known as ...

  8. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  9. [Refeeding syndrome. A review].

    Science.gov (United States)

    Temprano Ferreras, J L; Bretón Lesmes, I; de la Cuerda Compés, C; Camblor Alvarez, M; Zugasti Murillo, A; García Peris, P

    2005-02-01

    Refeeding syndrome is a complex clinical picture that encompass all those alterations that can occur as a consequence of the nutritional support (oral, enteral or parenteral) in malnourished patients. Refeeding syndrome is classically characterized by neurological alterations, respiratory symptoms, cardiac arrhythmias and heart failure few days after beginning of refeeding, with life-threatening outcome. Its pathogenesis includes alterations in the corporal fluids, and in some electrolytes, minerals and vitamins. In this article a review of refeeding syndrome pathogenesis and clinical manifestations is carried out, with a final series of recommendations for lowering the risk of this syndrome and for facilitate the early diagnosis and the treatment.

  10. 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.

  11. Trauma induced eagle syndrome.

    Science.gov (United States)

    Koivumäki, A; Marinescu-Gava, M; Järnstedt, J; Sándor, G K; Wolff, J

    2012-03-01

    Eagle syndrome is characterized by secondary calcification and elongation of the styloid process. Eagle syndrome is often associated with sharp, intermittent pain along the path of the glossopharyngeal nerve located in the hypopharynx and at the base of the tongue. In some cases, the stylohyoid apparatus can compress the internal and/or the external carotid arteries and their perivascular sympathetic fibres, resulting in a persistent pain radiating throughout the carotid territory. The pathogenesis of the syndrome is not understood. The authors report the case of a 52-year-old woman with post traumatic Eagle syndrome-like pain and pseudoarthrosis of the stylohyoid ligament.

  12. Sjögren's Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  13. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  14. 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…

  15. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    2002-01-01

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having Klippel-Tren

  16. 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.

  17. Managing Sjogren's Syndrome.

    Science.gov (United States)

    Grossman, Sheila; Tagliavini, Lynda B

    2015-10-01

    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin.

  18. Lynch Syndrome revision.

    Directory of Open Access Journals (Sweden)

    Sila Castellón Mortera

    2013-07-01

    Full Text Available The literature regarding colon`s adenocarcinoma hereditary no poliposico or Lynch Syndrome is reviewed. The clinical characteristics, genetics and histologycal of colon´s adenocarcinoma hereditary, no poliposico are pointed out, so as the updated criteria approved in Amsterdam, for the diagnostic of patients with this Syndrome. The therapeutics is updated.

  19. 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

  20. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Although girls with Turner syndrome may have certain learning difficulties, most can attend regular school and classes, and usually: write well learn well by hearing memorize information as well as others develop good language skills If you have Turner syndrome, you know ...

  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. The Aarskog syndrome.

    Science.gov (United States)

    Fryns, J P; Macken, J; Vinken, L; Igodt-Ameye, L; van den Berghe, H

    1978-06-09

    In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.

  3. 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.

  4. Central Pain Syndrome

    Science.gov (United States)

    ... or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain. × Definition Central pain syndrome is a neurological ...

  5. Post-Polio Syndrome

    Science.gov (United States)

    ... or fatigue, this may overwork already stressed-out motor neurons and increase your risk of post-polio syndrome. Generally, post-polio syndrome is rarely life-threatening, but severe muscle weakness can lead to complications: Falls. Weakness in your leg muscles makes it ...

  6. 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

  7. 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.

  8. 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...

  9. 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 ...

  10. 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

  11. 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.

  12. 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.

  13. Rett Syndrome Fact Sheet

    Science.gov (United States)

    ... gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ... the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, ...

  14. Androgen insensitivity syndrome

    Science.gov (United States)

    ... syndrome URL of this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the ... a condition in which the opening of the urethra is on the underside of the penis, instead of ... they can develop cancer, just like any undescended testicle. Estrogen replacement is ...

  15. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

  16. [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.

  17. [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.

  18. Familial pituitary tumor syndromes.

    Science.gov (United States)

    Elston, Marianne S; McDonald, Kerrie L; Clifton-Bligh, Roderick J; Robinson, Bruce G

    2009-08-01

    The vast majority of pituitary tumors are benign and occur sporadically; however, they can still result in significant morbidity and even premature mortality through mass effects and hormone dysfunction. The etiology of sporadic tumors is still poorly understood; by contrast, advances have been made in our understanding of familial pituitary adenoma syndromes in the past decade. Currently, four genes are known to be associated with familial pituitary tumor syndromes: MEN1, CDKN1B, PRKAR1A and AIP. The first three genes are associated with a variety of extrapituitary pathologies, for example, primary hyperparathyroidism with multiple endocrine neoplasia type 1, which might aid identification of these syndromes. By contrast, AIP mutations seem to occur in the setting of isolated familial pituitary adenomas, particularly of the growth-hormone-secreting subtype. Awareness and identification of familial pituitary tumor syndromes is important because of potential associated pathologies and important implications for family members. Here, we review the current knowledge of familial pituitary tumor syndromes.

  19. Gorlin-goltz syndrome.

    Science.gov (United States)

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

    2014-03-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  20. Eagle syndrome: case report.

    Science.gov (United States)

    Uludağ, İrem Fatma; Öcek, Levent; Zorlu, Yaşar; Uludağ, Burhanettin

    2013-01-01

    Eagle syndrome is an aggregate of symptoms caused by an elongated styloid process, most frequently resulting in headache, facial pain, dysphagia and sensation of foreign body in throat. The proper diagnosis is not difficult with clinical history, physical examination and radiographic assessment if there is a sufficient degree of suspicion. The treatment is very effective. We report here a typical case of Eagle syndrome which was misdiagnosed as trigeminal neuralgia for many years and was treated with carbamazepine. We aim to point the place of Eagle syndrome in the differential diagnosis of facial pain. We also re-emphasize the usefulness of the three-dimensional computed tomography in the diagnosis of Eagle syndrome. Even though Eagle syndrome is a rare condition, in cases of facial pain refractory to treatment or unexplained complaints of the head and neck region, it should be considered in the differential diagnosis as it has therapeutic consequences.

  1. [Orbitofrontal syndrome in psychiatry].

    Science.gov (United States)

    Murad, A

    1999-01-01

    Orbitofrontal syndrome is a variant of frontal lobe syndrome in which behavioural disturbances are prevailing. It results from bilateral lesions of the orbitofrontal cortex and the medial face of frontal lobe. Patients present disorganized hyperactivity. They are distractable, impulsive, euphoric and unable to abide by social rules. They often have instinctive disinhibition (hypersexuality, hyperphagia and urinary behaviour disorders). In spite of severe behavioural disturbances cognitive functions are often intact so that orbitofrontal syndrome may be confounded with two psychiatric disorders: mania (or hypomania) and antisocial personality disorder. In this article we present a case report of orbitofrontal syndrome which was initially misdiagnosed as mania. Clinical features and possible modes of presentation of this syndrome are discussed. It is suggested that serotonin reuptake inhibitors may be of some use in this disorder.

  2. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  3. 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

  4. Toxic Shock Syndrome (For Parents)

    Science.gov (United States)

    ... Feeding Your 1- to 2-Year-Old Toxic Shock Syndrome KidsHealth > For Parents > Toxic Shock Syndrome Print ... en español Síndrome de shock tóxico About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a serious ...

  5. RHEUMATIC MASKS OF PARANEOPLASTIC SYNDROME

    Directory of Open Access Journals (Sweden)

    A. P. Rebrov

    2001-01-01

    Full Text Available Summary Analysis of the prevalence and clinical manifestations of paraneoplastic syndrome in 173 patients with malignant tumors admitted in departments internal medicine of Regional Clinical hospital was done. Paraneoplastic syndromes was found in 13 patients (7% and was characterized by the following rheumatic manifestations: articular syndrome, dermato- and polymyositis, lupus-like syndrome.

  6. Dysmobility syndrome: current perspectives

    Science.gov (United States)

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

    2017-01-01

    Background A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. Method All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. Results The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Conclusion Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. PMID:28144132

  7. Vascular compression syndromes.

    Science.gov (United States)

    Czihal, Michael; Banafsche, Ramin; Hoffmann, Ulrich; Koeppel, Thomas

    2015-11-01

    Dealing with vascular compression syndromes is one of the most challenging tasks in Vascular Medicine practice. This heterogeneous group of disorders is characterised by external compression of primarily healthy arteries and/or veins as well as accompanying nerval structures, carrying the risk of subsequent structural vessel wall and nerve damage. Vascular compression syndromes may severely impair health-related quality of life in affected individuals who are typically young and otherwise healthy. The diagnostic approach has not been standardised for any of the vascular compression syndromes. Moreover, some degree of positional external compression of blood vessels such as the subclavian and popliteal vessels or the celiac trunk can be found in a significant proportion of healthy individuals. This implies important difficulties in differentiating physiological from pathological findings of clinical examination and diagnostic imaging with provocative manoeuvres. The level of evidence on which treatment decisions regarding surgical decompression with or without revascularisation can be relied on is generally poor, mostly coming from retrospective single centre studies. Proper patient selection is critical in order to avoid overtreatment in patients without a clear association between vascular compression and clinical symptoms. With a focus on the thoracic outlet-syndrome, the median arcuate ligament syndrome and the popliteal entrapment syndrome, the present article gives a selective literature review on compression syndromes from an interdisciplinary vascular point of view.

  8. Loin pain hematuria syndrome.

    Science.gov (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis.

  9. Streptococcal toxic shock syndrome

    Directory of Open Access Journals (Sweden)

    Gvozdenović Ljiljana

    2010-01-01

    Full Text Available Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella presented roughly 2-4 weeks later with a clinical syndrome highly suggestive of toxic shock syndrome. Characteristics, complications and therapy. It is characterized by a sudden onset of fever, chills, vomiting, diarrhea, muscle aches and rash. It can rapidly progress to severe and intractable hypotension and multisystem dysfunction. Almost every organ system can be involved. Complications of streptococcal toxic shock syndrome may include kidney failure, liver failure and even death. Crystalloids and inotropic agents are used to treat the hypovolemic shock aggressively, with close monitoring of the patient’s mean arterial pressure and central venous pressure. An immediate and aggressive management of hypovolemic shock is essential in streptococcal toxic shock syndrome. Targeted antibiotics are indicated; penicillin or a betalactam antibiotic is used for treating group A streptococci, and clindamycin has emerged as a key portion of the standard treatment.

  10. Eagle syndrome. A narrative review

    OpenAIRE

    Heber Arbildo; Luis Gamarra; Sandra Rojas; Edward Infantes; Hernán Vásquez

    2016-01-01

    Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid pro...

  11. Coffin-Lowry syndrome

    OpenAIRE

    Martínez, Nancy; Pontificia Universidad Javeriana; Orlando, Ricardo; Pontificia Universidad Javeriana; Muñoz, Kelly José; Pontificia Universidad Javeriana

    2010-01-01

    The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal and other disturbances. If not detected and treated early the syndrome may cause neural sensory hearing loss and progressive spine deformation.We report the case of a Coffin-Lowry syndrome in a 10 year old boy with hypotonic clinical characteristics, short stature, neurological development delay and pr...

  12. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani

    2011-01-01

    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  13. Ischemic Bilateral Opercular Syndrome

    Directory of Open Access Journals (Sweden)

    Aysel Milanlioglu

    2013-01-01

    Full Text Available Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  14. Ischemic bilateral opercular syndrome.

    Science.gov (United States)

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  15. Cantu syndrome and lymphoedema.

    Science.gov (United States)

    García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I; Vargas, Ana L; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O; Castañeda, Victor; Cardona, Ernesto G; Marin-Solis, Bertha; Cantu, Jose M; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K R; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose

    2011-01-01

    Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

  16. 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.

  17. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas

    2016-01-01

    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  18. 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.

  19. Hemolytic uremic syndrome.

    Science.gov (United States)

    Canpolat, Nur

    2015-06-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood.

  20. [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.

  1. [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.

  2. [Asperger's syndrome in females].

    Science.gov (United States)

    Waris, Petra; Kulomäki, Tuula; Tani, Pekka

    2011-01-01

    Literature on Asperger's syndrome (AS) has mainly described symptoms that are manifested in boys. Only recently, attention has been paid on the features in AS girls that differ from the typical clinical picture and may complicate the detection of the syndrome. Because AS girls may react passively in general or compensate or hide their difficulties by other abilities, the need for support is not necessarily brought up. In that case this developmental disorder easily remains unrecognized. Recognition of the syndrome at an early stage makes early supportive actions possible.

  3. TOLOSA HUNT SYNDROME

    Directory of Open Access Journals (Sweden)

    Padmini

    2013-03-01

    Full Text Available ABSTRACT: Tolosa-Hunt syndrome (THS is a painful ophthalmoplegi a caused by nonspecific inflammation of the cavernous sinus or superior orbi tal fissure. The syndrome consists of periorbital or hemicranial pain, combined with ipsilat eral ocular motor nerve palsies, oculosympathetic paralysis, and sensory loss in the distribution of the ophthalmic and occasionally the maxillary division of the trigemin al nerve. Although they have relapsing and remitting course, they respond promptly to systemic co rticosteroid therapy. The diagnostic eponym Tolosa-Hunt syndrome has been applied to these patients and it is this entity which forms the basis of this review

  4. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span.

    Science.gov (United States)

    Tyler, Carl; Edman, Jennifer C

    2004-09-01

    Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Syndrome-specific health care should complement standard preventive health care recommendations. Checklists and syndrome-specific growth grids should be used. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Support groups and Internet resources can benefit affected individuals and their families immensely.

  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. Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... Wiedemann syndrome References Jones KL, Jones M, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . ... Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Growth Disorders Browse ...

  7. Complex Regional Pain Syndrome

    Science.gov (United States)

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  8. 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.

  9. 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...

  10. Russell-Silver syndrome

    Science.gov (United States)

    ... other conditions that may mimic Russell-Silver syndrome) Treatment Growth hormone replacement may help if this hormone is lacking. Other treatments include: Making sure the person gets enough calories, ...

  11. 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.

  12. 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.

  13. Learning about Turner Syndrome

    Science.gov (United States)

    ... medical research, the dissemination of state-of-the-art TS information, and social support services to individuals, families, physicians and the general public. The Magic Foundation: Turner Syndrome [magicfoundation.org] A national non- ...

  14. 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...

  15. Facts About Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... type 1 Usher syndrome are profoundly deaf at birth and have severe balance problems. Many of these ...

  16. 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 ...

  17. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

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

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... 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...

  18. 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 ...

  19. Joubert Syndrome, A Ciliopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-10-01

    Full Text Available Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

  20. Empty Sella Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  1. Acute Radiation Syndrome

    Science.gov (United States)

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

  2. Anesthesia & Down Syndrome

    Science.gov (United States)

    ... tests used to verify existence and severity of valvular heart disease. Unfortunately, not all adults with Down syndrome will ... exams without sedation or anesthesia. Suspected existence of valvular heart disease must be communicated to the anesthesiologist prior to ...

  3. Distal arthrogryposis syndrome

    Directory of Open Access Journals (Sweden)

    Kulkarni K

    2008-01-01

    Full Text Available A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

  4. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  5. Fragile X Syndrome

    Science.gov (United States)

    Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...

  6. 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.

  7. Polycystic Ovary Syndrome

    Science.gov (United States)

    ... Staff Polycystic ovary syndrome (PCOS) is a common endocrine system disorder among women of reproductive age. Women with PCOS ... and symptoms and then rules out other possible disorders. During this ... An Endocrine Society clinical practice guideline. The Journal of Clinical ...

  8. 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.

  9. 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.

  10. 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 ...

  11. Sjogren's Syndrome Foundation

    Science.gov (United States)

    ... and receive discounts on Sjögren's resources. Follow Us Online! Join the SSF on Twitter, YouTube, Facebook, and Linkedin! anxiety © 2016 Sjögren’s Syndrome Foundation, Inc. 6707 Democracy Blvd, Ste 325, Bethesda, ...

  12. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration. Most men who ... known as Klinefelter syndrome. K,S & A: Knowledge, Support & Action [genetic.org] K, S & A's mission is to help ...

  13. 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 ...

  14. Cyclic Vomiting Syndrome

    Science.gov (United States)

    ... Eating, Diet, & Nutrition Clinical Trials View All Content Gastritis Gastrointestinal (GI) Bleeding Definition & Facts Symptoms & Causes Diagnosis ... diet. References [1] Hejazi, RA, McCallum RW. Review article: cyclic vomiting syndrome in adults—rediscovering and redefining ...

  15. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • What can high levels of androgens lead to? • What can irregular menstrual periods lead ...

  16. 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 ...

  17. 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

  18. Blind loop syndrome

    Science.gov (United States)

    ... part of the stomach) and 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.

  19. Down Syndrome (For Parents)

    Science.gov (United States)

    ... disorders, breathing problems, including sleep apnea and asthma, obesity, an increased chance of infections, and a higher risk of childhood leukemia. People with Down syndrome sometimes have an unstable upper spine and should ...

  20. Prader-Willi syndrome

    Science.gov (United States)

    ... Willi syndrome. It can help: Build strength and agility Improve height Increase muscle mass and decrease body ... The following organizations can provide resources and support: ... www.pwsausa.org Prader Willi California Foundation: pwcf.org ...

  1. Dandy-Walker Syndrome

    Science.gov (United States)

    ... eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders ...

  2. 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.

  3. Stuttering and Tourette's Syndrome

    Science.gov (United States)

    ... Adults Teachers Speech-Language Pathologists Physicians Employers Tweet Stuttering and Tourette's Syndrome Parents of Preschoolers Parents of ... to 3 people in 1000. Just as in stuttering, TS is more common in males than females ( ...

  4. 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 ...

  5. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... syndrome usually require care from a variety of specialists throughout their lives. Will she be able to ...

  6. Zollinger-Ellison Syndrome

    Science.gov (United States)

    ... stomach to produce too much acid. The excess acid then leads to peptic ulcers, as well as to diarrhea and other symptoms. Zollinger-Ellison syndrome (ZES) is rare. The disease may occur at any time in life, but ...

  7. 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.

  8. 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.

  9. Pellegrini-Stieda syndrome.

    Science.gov (United States)

    Wang, J C; Shapiro, M S

    1995-06-01

    The Pellegrini-Stieda "sign" is commonly seen in patients who have a history of trauma to the medial collateral ligament of the knee. Although most are asymptomatic, a few patients will develop the characteristic Pellegrini-Stieda syndrome, which can be severely limiting. When conservative measures fail, surgical treatment consisting of excision of the bony fragment with careful repair of the medial collateral ligament can eradicate the symptoms. This syndrome is reviewed in detail, and an illustrative case report is included.

  10. 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.

  11. Ischemic Bilateral Opercular Syndrome

    OpenAIRE

    Aysel Milanlioglu; Mehmet Nuri Aydın; Alper Gökgül; Mehmet Hamamcı; Mehmet Atilla Erkuzu; Temel Tombul

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the...

  12. 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.)

  13. 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.

  14. Hypokalemia syndrome in cattle.

    Science.gov (United States)

    Sattler, Nicolas; Fecteau, Gilles

    2014-07-01

    This article describes hypokalemia syndrome. Lactating dairy cows seem to be at the highest risk, but younger animals may also develop the disease. At present, except for animals treated with repeated isoflupredone acetate administration, the exact determinants causing hypokalemia syndrome remain uncertain. Affected animals are anorexic, weak to recumbent, and most often show signs of gastrointestinal stasis. Treatment is directed toward supportive care and oral potassium supplementation.

  15. 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.

  16. 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.

  17. 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.

  18. 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...

  19. 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.

  20. Abdominal Compartment Syndrome

    OpenAIRE

    Ovchinnikov V.А.; Sokolov V.А.

    2013-01-01

    We considered one of the most complicated problems of surgery and intensive care — abdominal compartment syndrome. It is a severe, and in some cases lethal complication developing in major injuries and pathology of abdominal cavity and retroperitoneal space, as well as in extra-abdominal pathology. In addition, compartment syndrome can be the complication of a number of surgical procedures accompanied primarily by laparotomy wound closure with tissue tension. We demonstrated the classificatio...

  1. Abdominal Compartment Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2015-04-01

    Full Text Available Intraabdominal hypertension and Abdominal compartment syndrome are causes of morbidity and mortality in critical care patients. Timely diagnosis and treatment may improve organ functions. Intra-abdominal pressure monitoring is vital during evaluation of the patients and in the management algorithms. The incidence, definition and risk factors, clinical presentation, diagnosis and management of intraabdominal hypertension and Abdominal compartment syndrome were reviewed here.

  2. DHAT SYNDROME REVISITED

    Science.gov (United States)

    Singh, Gurmeet

    1985-01-01

    SUMMARY Fifty consequetive patients of male potency disorders were examined and classified as Dhat Syndrome, Impotence or Premature ejaculation depending on definition laid down for these. Dhat syndrome has been found predominantly in young adults. Thirty one patients (62%) complained of Dhat as a major symptom. Associated diagnosis was depression (48%) and anxiety neurosis (16%). No psychiatric disorder was noticed in 16 (32%) cases. The socio-demographic relationships are given and difficulty in handling such patients has been discussed. PMID:21927085

  3. Polycystic Ovary Syndrome

    OpenAIRE

    Akula Annapurna

    2015-01-01

    Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to menstrual cycle changes, cysts in the ovaries, trouble getting pregnant, and other health changes. In PCOS, mature eggs are not released from the ovaries. Instead, they can form very small cysts in the ovary. These changes can contribute to infertility. Common symptoms of PCOS include Menstrual disorders, Infertility, High levels of testosterone and Metabolic syndrome. Obesity, ...

  4. 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.

  5. 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.

  6. [Catastrophic antiphospholipid syndrome].

    Science.gov (United States)

    Wisłowska, Małgorzata

    2015-01-01

    Catastrophic antiphospholipid syndrome is the most dangerous form of the antiphospholipid syndrome, which is characterized by rapid onset of thrombosis in small vessels of many organs and intravascular coagulation, thrombocytopenia and hemolytic anemia. The syndrome develops over a short period of time with acute multi-organ failure, including kidney, respiratory, cardiovascular, central nervous system and adrenal glands, often associated with disseminated thrombotic microangiopathy. The catastrophic antiphospholipid syndrome involves three or more systems, organs and/or tissues, the development of symptoms must occur within less than one week, it is necessary to confirm the histopathological vascular occlusion in at least one organ or tissue, and laboratory confirmation of the presence of antiphospholipid antibodies in the serum on two occasions over an interval of 12 weeks. This syndrome is characterized by a high mortality despite the use of optimal treatment. Early diagnosis and aggressive treatment of patients with catastrophic antiphospholipid syndrome is essential to save the life of these patients. In the last 10 years, the mortality in this disease decreased from 50% to 30% with simultaneous treatment with anticoagulants, corticosteroids, plasmapheresis and immunoglobulins.

  7. Marfan's syndrome: an overview

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include 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 Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder.

  8. Sleep overlap syndrome

    Directory of Open Access Journals (Sweden)

    Fariba Rezaeetalab

    2016-12-01

    Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

  9. 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.

  10. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  11. 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.

  12. 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

  13. The Greig cephalopolysyndactyly syndrome.

    Science.gov (United States)

    Biesecker, Leslie G

    2008-04-24

    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 orthopedic surgery indicated for

  14. 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

  15. 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.

  16. 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.

  17. Dysmobility syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Hill KD

    2017-01-01

    Full Text Available Keith D Hill,1 Kaela Farrier,1 Melissa Russell,2 Elissa Burton1 1School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, WA, Australia; 2Department of Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia Background: A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome.Method: All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest, CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized.Results: The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study. No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies. Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality.Conclusion: Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. Keywords: mobility, elderly, functional decline

  18. 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.

  19. 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

  20. 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…

  1. 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

  2. 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, ...

  3. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Antiphospholipid Antibody Syndrome? Antiphospholipid (AN-te-fos-fo-LIP-id) antibody ... weeks or months. This condition is called catastrophic antiphospholipid syndrome (CAPS). People who have APS also are at ...

  4. 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.

  5. Klinefelter Syndrome (KS): Condition Information

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media ... such as XXYY. This is called poly-X Klinefelter syndrome, and it causes more severe symptoms. 1 Klinefelter, ...

  6. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... T, Millán JM. Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis. 2014 ... Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012 Feb; ...

  7. 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

  8. Genetics Home Reference: Omenn syndrome

    Science.gov (United States)

    ... Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals ... Diseases Educational Resources (9 links) Boston Children's Hospital: Severe Combined Immunodeficiency (SCID) in Children Disease InfoSearch: Omenn syndrome Great ...

  9. Genetics Home Reference: Bloom syndrome

    Science.gov (United States)

    ... 1 link) BLOOM SYNDROME Sources for This Page Amor-Guéret M. Bloom syndrome, genomic instability and cancer: ... Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Structural and functional analyses ...

  10. 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...

  11. Genetics Home Reference: Netherton syndrome

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Netherton syndrome Netherton syndrome Enable ...

  12. Genetics Home Reference: Swyer syndrome

    Science.gov (United States)

    ... raised as girls and have a female gender identity. Because they do not have functional ovaries, affected ... called isolated Swyer syndrome . However, depending on the genetic cause, Swyer syndrome may also occur along with ...

  13. Klippel-Trenaunay Syndrome (KTS)

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  14. 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.

  15. 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.

  16. McCune-Albright syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001217.htm McCune-Albright syndrome To use the sharing features on this page, please enable JavaScript. McCune-Albright syndrome is a genetic disease that affects the bones ...

  17. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome , the thromboses can develop in ... Obstetrical Anti-Phospholipid Antibody Syndrome March of Dimes: Thrombophilias National Blood Clot Alliance ClinicalTrials.gov (1 link) ...

  18. Chronic Fatigue Syndrome (CFS): Symptoms

    Science.gov (United States)

    ... CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Symptoms On this Page Primary Symptoms Other Symptoms What's ... a doctor distinguish CFS from other illnesses. Primary Symptoms As the name chronic fatigue syndrome suggests , fatigue ...

  19. POLYCYSTIC OVARY SYNDROME IN ADOLESCENCE

    Directory of Open Access Journals (Sweden)

    Diana Baptista

    2017-02-01

    Conclusion: Identification of adolescents at risk for Polycystic Ovary Syndrome is critical, not only for an appropriate therapeutic approach, but also to prevent co-morbidities associated with the syndrome, including obesity, insulin resistance, dyslipidemia and infertility.

  20. Genetics Home Reference: FG syndrome

    Science.gov (United States)

    ... Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital ... Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE. Behavior of 10 patients with FG syndrome ( ...

  1. 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.

  2. Alport's Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Suchita Mehta

    2013-01-01

    Full Text Available Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman with a history of Alport's syndrome, which during pregnancy worsened resulting in hypertension, proteinuria, and acute kidney injury. Fortunately, there was complete resolution of the proteinuria and kidney injury with delivery, and the patient did not require any renal replacement therapy. Conclusion. One of the four reported cases had an accelerated form of the disease during pregnancy with rapid progression of kidney injury and end-stage renal disease. There are no definite guidelines to monitor these patients during pregnancy. Further studies are required to understand the exact pathophysiology of kidney damage that occurs in pregnant women with Alport's syndrome. This may give us some insight into the prognostic predictors, so that we can monitor these women more thoroughly and prevent adverse outcomes.

  3. QT-Syndrome

    Directory of Open Access Journals (Sweden)

    Haverkamp W

    2001-01-01

    Full Text Available QT-Syndrome sind durch eine im Oberflächen-EKG nachweisbare abnorme Verlängerung der QT-Intervall-Dauer und das spontane Auftreten ventrikulärer Tachyarrhythmien vom Typ der Torsade de Pointes (TdP charakterisiert. Die Rhythmusstörungen führen typischerweise zu rezidivierend auftretenden Synkopen, bei Degeneration von TdP in Kammerflimmern kann ein plötzlicher Herztod resultieren. Es ist zu unterscheiden zwischen einer kongenitalen und einer sog. erworbenen Form der Erkrankung. Während wir heute wissen, daß es sich beim kongenitalen QT-Syndrom (Romano-Ward-Syndrom, Jervell-und-Lange-Nielsen-Syndrom um eine genetisch bedingte Ionenkanalerkrankung handelt, sind die Mechanismen, die zu einer erworbenen abnormen, mit TdP einhergehenden QT-Verlängerung führen, bisher weitgehend unbekannt; nur in wenigen Fällen scheinen, wie bei den angeborenen Formen, Mutationen von Genen, die für Ionenkanäle kodieren, zugrundezuliegen. QT-Syndrome sind zwar relativ seltene Erkrankungen, im Spannungsfeld zwischen Klinik, traditioneller und molekulargenetischer Diagnostik sowie herkömmlichen Therapieverfahren und zukünftig anstehender genspezifischer Therapie kommt ihnen jedoch Modellcharakter zu.

  4. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  5. 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.

  6. 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.

  7. [The Angelman's syndrome].

    Science.gov (United States)

    Djurić-Nedeljković, M; Marjanović, B; Zamurović, D; Guć-Sćekić, M; Lejić, S; Zotović, M

    1994-01-01

    Distinction of patients with Angelman's syndrome in a group of mentally retarded patients is important even though the syndrome was rarely reported since the original description in 1965. Before that time these patients were thought to suffer from neurologic sequelae of perinatal asphyxia, Lennox-Gastaut syndrome or mental retardation of unknown origin. Diagnosis is based on the following criteria: developmental delay from early age, absent speech (or speech limited to less than six words), jerky movements with an ataxic gait if the patient is walking, paroxysm of inappropriate laughing, dysmorphic craniofacial features (brachycephaly, mid-facial hypoplasia, deep set eyes, macrostomia, prominent mandible). About 60% of patients have deletion of chromozome 15q11-13. Cytogenetic studies suggest that de novo deletion of chromozome 15 is connected with the low recurrence risk and that families with several members with Angelman's syndrome belong to the group without identifiable deletion on citogenetic or molecular level. The article deals with the diagnostic criteria, clinical features and electroencephalographic changes (after several years of followup) in seven children with Angelman's syndrome (four girls and three boys).

  8. The SAHA syndrome.

    Science.gov (United States)

    Orfanos, C E; Adler, Y D; Zouboulis, C C

    2000-01-01

    The presence of seborrhoea, acne, hirsutism and alopecia in women has first been summarized as SAHA syndrome in 1982 and can be associated with polycystic ovary syndrome, cystic mastitis, obesity and infertility. In 1994, the association of these androgen-dependent cutaneous signs, was classified according to their etiology into four types: (1) idiopathic, (2) ovarian, (3) adrenal, and (4) hyperprolactinemic SAHA. The HAIRAN syndrome has been currently described as a fifth variant with polyendocrinopathy. The SAHA syndrome generally occurs in young to middle-aged women and involves either the presence of elevated blood levels of androgens or increased androgen-driven peripheral response with normal circulating androgen levels. Peripheral metabolism of androgens takes place in various areas within the pilosebaceous unit, as indicated by local differences in the activities of aromatase, 5alpha-reductase as well as of the presence of the androgen receptors. In cases of SAHA syndrome, careful diagnostic and clinical evaluation has to be performed in order to identify the cause for peripheral hyperandrogenism and to exclude androgen-producing tumors. Treatment will target the etiology, whereas the management in idiopathic cases will aim to improve the clinical features of SAHA.

  9. Metabolic Syndrome, Androgens, and Hypertension

    OpenAIRE

    Moulana, Mohadetheh; Lima, Roberta; Reckelhoff, Jane F.

    2011-01-01

    Obesity is one of the constellation of factors that make up the definition of the metabolic syndrome. Metabolic syndrome is also associated with insulin resistance, dyslipidemia, hypertriglyceridemia, and type 2 diabetes mellitus. The presence of obesity and metabolic syndrome in men and women is also associated with increased risk of cardiovascular disease and hypertension. In men, obesity and metabolic syndrome are associated with reductions in testosterone levels. In women, obesity and met...

  10. 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.

  11. Poland syndrome with absent ribs

    OpenAIRE

    Rupam Kumar Ta; Kaushik Saha; Arnab Saha; Santanu Ghosh; Mrinmoy Mitra

    2014-01-01

    Poland syndrome is a rare congenital disorder characterized by ipsilateral absence of pectoralis major muscle. This syndrome is associated with various anomalies such as ipsilateral syndactyly, brachidactyly, dextrocardia, herniation of lung, underdevelopment of upper ribs, aplasia or hypoplasia of breast, etc. Only few cases had been reported with absent ribs in Poland syndrome. We report a rare case of Poland syndrome presented to us with mal-development of his right hemithorax and weakness...

  12. Poland syndrome with absent ribs

    Directory of Open Access Journals (Sweden)

    Rupam Kumar Ta

    2014-01-01

    Full Text Available Poland syndrome is a rare congenital disorder characterized by ipsilateral absence of pectoralis major muscle. This syndrome is associated with various anomalies such as ipsilateral syndactyly, brachidactyly, dextrocardia, herniation of lung, underdevelopment of upper ribs, aplasia or hypoplasia of breast, etc. Only few cases had been reported with absent ribs in Poland syndrome. We report a rare case of Poland syndrome presented to us with mal-development of his right hemithorax and weakness of right hand.

  13. POLYCYSTIC OVARY SYNDROME IN ADOLESCENCE

    OpenAIRE

    Diana Baptista; Maria João Vieira; Carla Meireles

    2017-01-01

    Introduction:Polycystic Ovary Syndrome is recognized as the most common endocrine disorder of reproductive-age women. The syndrome often presents during adolescence, but the diagnosis in this age group is complicated by the overlap between features of the syndrome and physiologic findings observed during the normal progression of puberty. Objective:To review the diagnosis and treatment of Polycystic Ovary Syndrome in adolescence. Development:There are no consensual diagnostic criteria o...

  14. Radiologically-Detectable Sacroiliac Involvement in Behcet s Disease

    Directory of Open Access Journals (Sweden)

    "A. Nadji

    2003-06-01

    Full Text Available Background: The association of Behcet’s disease (BD and ankylosing pondylitis (AS is still a matter of debate. Objective: As the presence of sacroiliac joint (SIJ involvement is an essential criterion in diagnosis of AS, we decided to determine the revalence of SIJ involvement in BD and compare it with that of a control group. Patients & Methods: We randomly selected two groups of 199 BD patients and 168 non-BD cases (the controls. All cases were over 20 years of age. Standard anteroposterior radiographs of the SIJ were obtained and interpreted by two rheumatologists and a radiologist blinded to the diagnosis. To determine the severity of the condition, the following 5-point scale was employed: Normal (0, pseudo-widening (1, sclerosis (2, erosion (3, and bony fusion (4. To eliminate any doubts, only grades 3 and 4 were considered as sacroiliitis. Both groups were separately evaluated for age ( 30, and >30, and gender. Results were compared using Chi square test. Results: The groups were matched for age and sex: There were 98 (49.2% females in BD vs. 91 (54.2% in the control group (p=0.35. The meanSD age was 358.3 years in BD and 3510 in control group (p=1. The SIJ was involved in 9 (4.6% patients in BD and 7 (4.2% patients in control group (p=0.93. Comparisons between the results of the unisexual cohorts revealed no significance either (p=0.68 for males, and p=0.64 for females. The age subdivisions (under- and over-30 again showed no significant difference (p=0.96 and p=0.69 for under- and over-30 patients, respectively. Conclusion: The presence of radiographic signs of SIJ involvement is not mandatory for the diagnosis of AS.

  15. Retrospective Analysis of Cancer with Behcets Disease: Single Center Experience

    Directory of Open Access Journals (Sweden)

    Berna Bozkurt Duman

    2014-02-01

    Results: One of our 105 patients with BD was found to have solid tumor in the rate of 0.9 %. The remaining 104 patients with BD were in follow up without any malignancy in this period. The malignancy that we reported was invasive right breast carcinoma in a 55-year-old woman with BD. A radically modified right mastectomy and axillary lymphadenectomy were performed and postoperative doxorubicin, cyclophosphamide therapy for four cycles and hormonal therapy with tamoxifen and leuprolide acetate was administered as adjuvant therapy. This patient had a history of 16 years colchicine usage as medication for BD. Conclusion:The rheumatologic diseases can predispose malignancy, the autoimmune nature of BD or the immunosupressive medicines could be possible causes of this carcinoma. However, in our study only one patient had malignancy. The another point of view; management and also prevention of cancer with BD is important entity.

  16. Cardiofaciocutaneous syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    S Pavithra

    2012-01-01

    Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

  17. [Antisynthetase syndrome without muscle involvement].

    Science.gov (United States)

    Júdez Navarro, Enrique; Martínez Carretero, Myriam; Martínez Jiménez, Gonzalo Fidel

    2007-11-01

    Antisynthetase syndrome is a well defined syndrome characterized by the presence of interstitial lung disease in association with arthritis, miositis, mechanic's hands and Ruynaud's phenomenon in the presence of antisynthetase antibodies, especially Ac anti-Jo1. We described the case of a 68-year-old man with this syndrome in the absence of inflammatory muscle disease.

  18. A Journey with Klinefelter Syndrome

    Science.gov (United States)

    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  19. 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.

  20. 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…