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Sample records for bleb naevus syndrome

  1. Blue rubber bleb naevus syndrome

    DEFF Research Database (Denmark)

    Lybecker, Martin Bell; Stawowy, Marek; Clausen, Niels

    2016-01-01

    Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder with malformed veins, or blebs, appearing in the skin or internal organs. Gastrointestinal tract involvement is the most common feature and often subject to bleeding, potentially resulting in chronic occult blood loss and iron...

  2. Blue rubber bleb naevus

    Directory of Open Access Journals (Sweden)

    Mittal R

    1995-01-01

    Full Text Available A 35 year old female had multiple progressive painful, tender, soft, bluish compressible nodules with the feel of rubber nipples. There was no evidence of gastrointestinal haemangiomas or other systemic abnormalities. Histopathologically, cavernous haemangioma with prominent smooth muscle outline proved the clinical diagnosis of blue rubber bleb naevus. Only cutaneous lesions were seen in the patient.

  3. Blue rubber bleb naevus syndrome: A rare cause of gastrointestinal bleeding in an African child

    Directory of Open Access Journals (Sweden)

    Walter C

    2010-01-01

    Full Text Available Blue rubber bleb naevus syndrome (BRBNS is characterised by vascular malformations of the skin and gastrointestinal tract. We present the rare case of BRBNS in an African child. She presented with large-volume gastrointestinal bleeding and was managed by on-table colonoscopic identification and surgical excision, of all her enteric, vascular malformations.

  4. The value of double balloon enteroscopy in diagnosing blue rubber bleb naevus syndrome: a case report.

    LENUS (Irish Health Repository)

    O'Kelly, Fardod

    2010-01-01

    Blue rubber bleb naevus syndrome is a rare vascular disorder associated with multiple gastrointestinal haemangiomas that have the potential for life-threatening haemorrhage. These may be difficult to diagnose, and have classically been described using computed tomographic studies and\\/or mesenteric angiography. Resected surgical specimens of these lesions, especially in the small bowel, have often been extensive and poorly localized. The recent advent and progressive development of double balloon enteroscopy has allowed the direct visualization and marking of these enteric lesions and serves as a valuable adjunct not only in diagnosis but also planning prior to surgery to allow accurate estimate of the extent of resection.

  5. Blue rubber-bleb naevus syndrome: report of a case with consumption coagulopathy complicated by manifest thrombosis

    NARCIS (Netherlands)

    W. Hofhuis (Ward); A.P. Oranje (Arnold); J. Bouquet (Jan); M. Sinaasappel (Maarten)

    1990-01-01

    markdownabstractAbstract Blue rubber-bleb naevus (BRBN) syndrome is a rare disorder characterized by subcutaneous and gastrointestinal haemangiomas. The latter may lead to bleeding complications. A case is reported in which a process of chronic intravascular coagulation resulted in serious thrombo

  6. Early recognition of basal cell naevus syndrome

    NARCIS (Netherlands)

    Veenstra-Knol, HE; Scheewe, JH; van der Vlist, GJ; van Doorn, ME; Ausems, MGEM

    2005-01-01

    The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignan

  7. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S

    2008-01-01

    We report on a child with blue rubber bleb nevus syndrome (BRBNS) presenting during the first days of life with severe bleeding from the upper gastrointestinal tract. Medical treatment with methylprednisolone, cyklokapron, interferon 1 alpha and numerous blood transfusions were given to control...

  8. Computed tomography appearances in the linear sebaceous naevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Levin, S.; Robinson, R.O.; Aicardi, J.; Hoare, R.D.

    1984-11-01

    The appearance of C.T. of the head in 11 cases of the linear sebaceous naevus syndrome are presented. From these it is argued that the pathology represents a disorder of neuronal migration and organisation rather than differentiation. Since three of the cases had evidence of CNS tumour in addition to two in the literature, it would appear that a further aspect of this disorder is a failure of growth constraint. This is paralleled by a similar tendency in the skin lesion which should be considered premalignant. Normal intelligence is rare in this condition and co-exists only with a normal C.T. scan. The early onset of fits is not necessarily associated with subsequent mental handicap.

  9. Blue rubber bleb nevus syndrome: a report of one case associated with recurrent epistaxis

    Institute of Scientific and Technical Information of China (English)

    LIU Qiong; CHEN Yi-peng; LI You-ming

    2007-01-01

    @@ Blue rubber bleb nevus syndrome (BRBNS), or Bean's syndrome, is a rare angiomatosis characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes.

  10. Lichen planopilaris after imiquimod 5% cream for multiple BCC in basal cell naevus syndrome.

    Science.gov (United States)

    Drummond, Alessandra; Pichler, Janine; Argenziano, Giuseppe; Zalaudek, Iris; Longo, Caterina; Lallas, Aimilios; Piana, Simonetta; Moscarella, Elvira

    2015-11-01

    Basal cell naevus syndrome is an inherited autosomal dominant genetic disorder characterised by multiple basal cell carcinomas (BCC), skeletal, neurological and opthalmological abnormalities. The treatment of choice of the often multiple and large BCC consists of a combined approach including surgery, liquid nitrogen and other topical treatment modalities. Imiquimod 5% cream is an immune-response-modifying drug with antiviral and anti-tumour activity. Recent reports have associated the immune-stimulant properties of imiquimod with the exacerbation of several autoimmune skin diseases, such as eczema, psoriasis, vitiligo and lichenoid dermatitis. Here we report a patient with basal cell naevus syndrome who developed a lichen planopilaris on the same site of the scalp, which had been previously treated with two cycles of imiquimod for multiple BCC.

  11. Studies on the radiosensitivity of cells from patients with basal cell naevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Featherstone, T.; Taylor, A.M.; Harnden, D.G.

    1983-01-01

    No difference in survival was observed between cultured cells from basal cell naevus syndrome (BCNS) patients and normal controls following exposure of fibroblasts to ionizing radiation. Potential lethal damage repair in BCNS cells, measured by holding experiments, was also no different from normal. G0-irradiated lymphocytes from BCNS patients were found to have a significantly higher level of X-ray-induced chromosome aberrations compared with normals. This increase is, however, small, and, taken together with the survival data, suggests that increased cell killing as a measure of the unusual clinical radiosensitivity is not the major effect of the BCNS gene.

  12. Basal cell naevus syndrome - radiographic findings in the skull

    Energy Technology Data Exchange (ETDEWEB)

    Stoll, P.; Dueker, J.; Weingart, D.

    1986-09-01

    Besides uni- and multiocular jaw cysts the Gorlin Goltz syndrome shows other characteristic radiographic findings which help to ensure diagnosis. These are particularly calcification of the falx cerebri and a so called ''bridging'' between processus clinoideus anterior and posterior of the sella turcica. The importance of early diagnosis is stressed.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1987-11-14

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

  14. BLUE RUBBER BLEB NEVUS SYNDROME TREATED BY CHINESE HERBAL MEDICINE: A CASE REPORTAND REVIEW OF LITERATURE

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations. The malformations are most prominent in the skin, soft tissues, gastrointestinal tract, and, less often, in other internal organs. A patient may have from several to hundreds of hemangiomas and treatment of BRBNS is mainly symptomatic. We report a unique case of BRBNS typically with skin hemangiomas, iron deficiency anemia and an episode of internal hemorrhage in such a patient, who was tr...

  15. Naevus comedonicus

    Directory of Open Access Journals (Sweden)

    Kamath K

    1992-01-01

    Full Text Available Naevus comednicus is a rare form of epidermal naevus commonly seen on face and neck. Much rare is the occurrence of lesions over the glans. Reported cases of this developmental abnormality of pilosebaceous apparatus are few. Here we report a case with lesions over cheek and glans penis.

  16. Iridocorneal endothelial syndrome: iris naevus (Cogan-Reese syndrome. A case report

    Directory of Open Access Journals (Sweden)

    Sumita Karandikar

    2015-11-01

    Full Text Available The purpose is to present a case of iridocorneal endothelium Syndrome with glaucoma and discuss clinical presentation and management strategies. A 45 year old female presented with redness, pain and diminision of vision in left eye. The patient was completely evaluated for the complaints. Slit lamp biomicroscopy revealed semidilated pupil not reacting to light and variation in iris colour pattern. Intraocular pressure was 14mmHg in the right eye and 46mmHg in the left eye. Gonioscopy of the left eye revealed broad based peripheral anterior synechiae. The optic disc of the left eye had a cup of 0.7. Specular microscopy of the left eye showed pleomorphism and polymegathism with multiple guttatae. This case reports the importance of specular microscopy in the evaluation of ICE syndrome and to plan the appropriate management strategies. We performed a trabeculectomy surgery for this patient with a well-functioning bleb to reduce the intraocular pressures following failure of topical anti-glaucoma medications. [Int J Res Med Sci 2015; 3(11.000: 3420-3423

  17. Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Beluffi, Giampiero [Section of Paediatric Radiology, Department of Radiodiagnosis, IRCCS Policlinico S. Matteo, Piazzale Golgi, 2, 27100, Pavia PV (Italy); Romano, Piero; Matteotti, Chiara; Minniti, Silvio; Ceffa, Franco [Division of Paediatric Surgery, IRCCS Policlinico S. Matteo, Pavia (Italy); Morbini, Patrizia [Department of Pathology, IRCCS Policlinico S. Matteo, Pavia (Italy)

    2004-09-01

    Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable. (orig.)

  18. Fauntail naevus

    Directory of Open Access Journals (Sweden)

    Dhar Sandipan

    1994-01-01

    Full Text Available Two cases of Faun-tail naevus are presented. Both the patients had clinical and radiological evidence of bifid 5th lumber spine. However, neither of them had any neurological complications.

  19. Endoscopic therapy for esophageal hematoma with blue rubber bleb nevus syndrome

    Institute of Scientific and Technical Information of China (English)

    Mika; Takasumi; Takuto; Hikichi; Tadayuki; Takagi; Masaki; Sato; Rei; Suzuki; Ko; Watanabe; Jun; Nakamura; Mitsuru; Sugimoto; Yuichi; Waragai; Hitomi; Kikuchi; Naoki; Konno; Hiroshi; Watanabe; Katsutoshi; Obara; Hiromasa; Ohira

    2014-01-01

    A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome(BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal(GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injectionneedle to reduce the pressure within it. Finally, argon plasma coagulation(APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic the rapy, the eso phage alulcerhealed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC.

  20. Bilateral Naevus Of OTA

    Directory of Open Access Journals (Sweden)

    Ahmad Qazi Masood

    2001-01-01

    Full Text Available Naevus of Ota is a type of dermal melanocytic naevus characterized by extensive blue patch of dermal melanocytic pigmentation of the sclera and the skin adjacent to the eye. The condition is usually unilateral. Here we report a patient with bilateral naevus of Ota in view of the rarity of this condition.

  1. Jadassohn's Naevus Phakomatosis: 1. A Report of Two Cases.

    Science.gov (United States)

    Zaremba, J.; And Others

    1978-01-01

    In the first of two reports, two typical cases of Jadassohn's Naevus Phakomatosis (JNPh-a syndrome composed of a characteristic skin naevus, mental retardation and epilepsy, as well as various congenital abnormalities) are reported, with full clinical details, history, and the results of the investigation. (Author)

  2. Naevus Lipomatosus Cutaneous Superficialis

    Directory of Open Access Journals (Sweden)

    Ramanan C

    2001-01-01

    Full Text Available Naevus lipomatosus cutaneous superficialis (NLCS in an eighteen year old female is reported. She had asymptomatic nodules and plaques on her lower back since birth. The diagnosis was confirmed by histopathology

  3. Connective Tissue Naevus

    Directory of Open Access Journals (Sweden)

    Bhat Ramesh M

    1999-01-01

    Full Text Available A young adult female patient of connective tissue naevus presented with papules and indurated plaques on both les and left arm. Histopathology showed increased amount of collagen in the dermis. Osteopoikilosis was absent.

  4. Cellular blue naevus

    Directory of Open Access Journals (Sweden)

    Mittal R

    2001-01-01

    Full Text Available A 31-year-old man had asymptomatic, stationary, 1.5X2 cm, shiny, smooth, dark blue nodule on dorsum of right hand since 12-14 years. In addition he had developed extensive eruption of yellow to orange papulonodular lesions on extensors of limbs and buttocks since one and half months. Investigations confirmed that yellow papules were xanthomatosis and he had associated diabetes mellitus and hyperlipidaemia. Biopsy of blue nodule confirmed the clinical diagnosis of cellular blue naevus. Cellular blue naevus is rare and its association with xanthomatosis and diabetes mellitus were interesting features of above patients which is being reported for its rarity.

  5. Plaque Type Blue Naevus

    Directory of Open Access Journals (Sweden)

    Sentamilselvi G

    1997-01-01

    Full Text Available A case of plaque type blue naevus was encountered in a Dermatology Clinic in Madras. The various clinical differential diagnoses are discussed, the hitopathological features described and the benign nature of the tumour stressed. The case is reported for its rarity and to create an awareness of this entity.

  6. Cultured skin keratinocytes from both normal individuals and basal cell naevus syndrome patients are more resistant to. gamma. -rays and UV light compared with cultured skin fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Stacey, M.; Thacker, S.; Taylor, A.M.R. (Birmingham Univ. (UK). Cancer Research Campaign Labs.)

    1989-07-01

    Measurement of colony-forming ability following exposure to {gamma}-rays was performed on cultured skin keratinocytes and skin fibroblasts from normal individuals, basal cell naevus syndrome patients (BCNS) and ataxia telangiectasia (A-T) patients. The most striking observation was the radiation resistance of 8/8 keratinocyte strains compared with fibroblasts whether from BCNS patients or normals. The single A-T keratinocyte cell strain showed the same radiosensitivity as A-T fibroblast cell strains. The differential survival of keratinocytes and fibroblasts was also observed following exposure to 254 nm UV light. Survival curves of SV40 immortalized keratinocytes and retinoblasts derived from normal individuals or BCNS patients showed large shoulder regions following exposure to {gamma}-rays or 254 nm UV light. An increased D{sub 37} rather than an increased D{sub o} was therefore the feature of such curves, contrasting with SV40 immortalized A-T keratinocytes or fibroblasts which showed a minimal shoulder effect and an increased D{sub o}. No difference in survival was observed between BCNS and normal cells following exposure to either UV or {gamma}-rays. (author).

  7. Circumferential ′ Woolly Hair Naevus

    Directory of Open Access Journals (Sweden)

    Thadeus J

    1998-01-01

    Full Text Available Woolly hair naevus presents as a circumscribed area of tightly coiled hair since birth, in an individual of non-negroid origin. We report a 10 year old boy of Indian origin who presented with woolly hair in the periphery of the scalp and normal straight hair in the center-mimicking a straight hair naevus.

  8. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.

    Science.gov (United States)

    Petrou, Petros; Makrygiannis, Apostolos K; Chalepakis, Georges

    2008-01-01

    Fras1 and the structurally related proteins Frem1, Frem2, and Frem3, comprise a novel family of extracellular matrix proteins, which localize in a similar fashion underneath the lamina densa of epithelial basement membranes. They are involved in the structural adhesion of the skin epithelium to its underlying mesenchyme. Deficiency in the individual murine Fras1/Frem genes gives rise to the bleb phenotype, which is equivalent to the human hereditary disorder Fraser syndrome, characterized by cryptophthalmos (hidden eyes), embryonic skin blistering, renal agenesis, and syndactyly. Recent studies revealed a functional cooperation between the Fras1/Frem gene products, in which Fras1, Frem1 and Frem2 are simultaneously stabilized at the lowermost region of the basement membrane by forming a macromolecular ternary complex. Loss of any of these proteins results in the collapse of the protein assembly, thus providing a molecular explanation for the highly similar phenotypic defects displayed by the respective mutant mice. Here, we summarize the current knowledge regarding the structure, function, and interplay between the proteins of the Fras1/Frem family and further propose a possible scenario for the evolution of the corresponding genes.

  9. Proteus syndrome

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    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.

  10. Mucinous Naevus: A Rare Variant of Connective Tissue Naevus

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    Bhavna Nayal

    2013-04-01

    Full Text Available Mucinous naevus is a form of primary cutaneous mucinosis and connective tissue neavus characterized by deposition of dermal type of mucin in the dermis. Clinically, these lesions may present as papulonodules or plaques and are treated by simple surgical excision. This case is being reported because of the unusual location and rarity of this lesion. [J Interdiscipl Histopathol 2013; 1(2.000: 89-92

  11. Naevus depiomentosus treated with suction blister grafting

    Directory of Open Access Journals (Sweden)

    Ravikumar B

    2000-01-01

    Full Text Available Naevus depigmentosus is a congenital hypomelanotic condition in which the off white lesions are permanent and cosmetically embarassing. There has been no effective treatment reported so for for this condition. Here we are reporting a patient of naevus depigmentosus on whom we performed suction blister grafting and the resultant pigmentation was satisfactory

  12. Bleb Nucleation through Membrane Peeling

    CERN Document Server

    Alert, Ricard

    2016-01-01

    We study the nucleation of blebs, i.e., protrusions arising from a local detachment of the membrane from the cortex of a cell. Based on a simple model of elastic linkers with force-dependent kinetics, we show that bleb nucleation is governed by membrane peeling. By this mechanism, the growth or shrinkage of a detached membrane patch is completely determined by the linker kinetics, regardless of the energetic cost of the detachment. We predict the critical nucleation radius for membrane peeling and the corresponding effective energy barrier. These may be typically smaller than those predicted by classical nucleation theory, implying a much faster nucleation. We also perform simulations of a continuum stochastic model of membrane-cortex adhesion to obtain the statistics of bleb nucleation times as a function of the stress on the membrane. The determinant role of membrane peeling changes our understanding of bleb nucleation and opens new directions in the study of blebs.

  13. Three mechanical models for blebbing and multi-blebbing

    KAUST Repository

    Woolley, T. E.

    2014-06-17

    Membrane protrusions known as blebs play important roles in many cellular phenomena. Here we present three mathematical models of the bleb formation, which use biological insights to produce phenotypically accurate pressure-driven expansions. First, we introduce a recently suggested solid mechanics framework that is able to create blebs through stretching the membrane. This framework is then extended to include reference state reconfigurations, which models membrane growth. Finally, the stretching and reconfiguring mechanical models are compared with a much simpler geometrically constrained solution. This allows us to demonstrate that simpler systems are able to capture much of the biological complexity despite more restrictive assumptions. Moreover, the simplicity of the spherical model allows us to consider multiple blebs in a tractable framework. © 2014 The authors 2014. Published by Oxford University Press on behalf of the Institute of Mathematics and its Applications. All rights reserved.

  14. Axonal bleb recording

    Institute of Scientific and Technical Information of China (English)

    Wenqin Hu; Yousheng Shu

    2012-01-01

    Patch-clamp recording requires direct accessibility of the cell membrane to patch pipettes and allows the investigation of ion channel properties and functions in specific cellular compartments.The cell body and relatively thick dendrites are the most accessible compartments of a neuron,due to their large diameters and therefore great membrane surface areas.However,axons are normally inaccessible to patch pipettes because of their thin structure; thus studies of axon physiology have long been hampered by the lack of axon recording methods.Recently,a new method of patchclamp recording has been developed,enabling direct and tight-seal recording from cortical axons.These recordings are performed at the enlarged structure (axonal bleb) formed at the cut end of an axon after slicing procedures.This method has facilitated studies of the mechanisms underlying the generation and propagation of the main output signal,the action potential,and led to the finding that cortical neurons communicate not only in action potential-mediated digital mode but also in membrane potential-dependent analog mode.

  15. Spitz Naevus With Ulceration - A Rare Presentation

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    Kanwar A. J

    2001-01-01

    Full Text Available A 25 year old female presented with an asymptomatic reddish brown nodule on the nose. History of ulceration and bleeding suggested a diagnosis of granuloma pyogenicum. The lesion was excised. Histology revealed features of Spitz naevus.

  16. Extensive Bilateral Naevus Comedonicus Exacerbating During Pregnancy

    Directory of Open Access Journals (Sweden)

    Rao M.V

    1999-01-01

    Full Text Available Naevus comedonicus is a rare developmental anomaly of the pilosebaceous apparatus. It occurred bilaterally in a 23 year old pregnant woman. She noted exacerbations during two pregnancies, hitherto unreported in the literature.

  17. 蓝色橡皮大疱痣综合征一例报告%Blue rubber bleb nevus syndrome: a rare cause of gastroenterol bleeding

    Institute of Scientific and Technical Information of China (English)

    缪惠标; 陶力; 田虹

    2013-01-01

    蓝色橡皮大疱痣综合征(BRBNS)是一种罕见的原因尚不明确的疾病,特点为全身多发静脉畸形病灶.该文报道1例34岁女性,发现全身皮肤多发蓝紫色肿物20余年,反复黑便及鲜血便2年,并因严重贫血需长期输血治疗.全腹CT平扫可见肝脏、脾脏、肾脏、子宫、盆腔内及臀大肌内大量结节状病灶,血管造影显示病灶为静脉畸形.胃镜、肠镜、胶囊内镜显示全消化道共约150余处大小不一静脉畸形病灶并多发性出血.治疗包括半流和精细软食,补铁,沙利度胺(反应停)维持治疗,患者血红蛋白由56 g/L升至102 g/L并维持于该水平,未再出现显性出血,随诊2年病情稳定,后死于肾盂肾炎败血症.全身如此大量的病灶特别是大量胃肠道病灶在已有的BRBNS文献报道中尚属罕见,且对于多病灶出血,可试用沙利度胺以控制病情.%Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple venous malformations,with unknowed etiology.Herein,we report a thirty-four years old woman with multiple blue cutaneous masses for over 20 years,who had suffered melena and bloody stool for two years.She had severe anemia and had to receive blood transfusion for a long term.CT scan of abdomen showed a large number of nodular lesions in liver,kidney,uterus,pelvic cavity and gluteus maximus.Angiography confirmed those lesion as venous malformations.Gastroscopy,colonoscopy,capsule endoscopy show nearly over 150 venous malformations throughout gastrointestinal tract and some of them were bleeding.Therapy included semi-flow and soft diet,iron supplement,and oral thalidomide.HGB of the patient increased from 56 g/L to 102 g/L.Dominant gastrointestinal bleeding disappeared and her condition remained well during two years of follow-up.Finally,she died of pyelonephritis and septicemia.It is extremely rare with so many lesions in gastrointestinal tract among the cases with BRBNS ever reported

  18. Long-term observation of an organoid naevus phakomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Schimmelpenning, G.W.

    1983-07-01

    The course of an organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome) was observed in one patient over 25 years. Although the syndrome was fully developed, it has so far remained relatively benign, without limiting the patient's ability to work. During the course of the disease various investigations were carried out (CT, brain scintigrams, chromosome analysis). These confirm that the out-standing feature consisting of fibrous bone dysplasia of the skull continues to progress into adult life. In addition, the presence of intracerebral calcification could be demonstrated. Examination of the chromosomes suggests that further similar cases should also be examined, since the aetiology and pathogenesis of this phakomatosis are still unknown.

  19. Persistent congenital milia with naevus spilus

    Directory of Open Access Journals (Sweden)

    Mishra Dharmendra

    1995-01-01

    Full Text Available We are reporting a case of solitary persistent left-sided endoareolar congenital milia in association with no serious malformation or abnormality of any structure except the presence of naevus spilus, on the back of the ipsilateral forearm.

  20. An Elastic Model of Blebbing in Nuclear Lamin Meshworks

    Science.gov (United States)

    Funkhouser, Chloe; Sknepnek, Rastko; Shimi, Takeshi; Goldman, Anne; Goldman, Robert; Olvera de La Cruz, Monica

    2013-03-01

    A two-component continuum elastic model is introduced to analyze a nuclear lamin meshwork, a structural element of the lamina of the nuclear envelope. The main component of the lamina is a meshwork of lamin protein filaments providing mechanical support to the nucleus and also playing a role in gene expression. Abnormalities in nuclear shape are associated with a variety of pathologies, including some forms of cancer and Hutchinson-Gilford progeria syndrome, and are often characterized by protruding structures termed nuclear blebs. Nuclear blebs are rich in A-type lamins and may be related to pathological gene expression. We apply the two-dimensional elastic shell model to determine which characteristics of the meshwork could be responsible for blebbing, including heterogeneities in the meshwork thickness and mesh size. We find that if one component of the lamin meshwork, rich in A-type lamins, has a tendency to form a larger mesh size than that rich in B-type lamins, this is sufficient to cause segregation of the lamin components and also to form blebs rich in A-type lamins. The model produces structures with comparable morphologies and mesh size distributions as the lamin meshworks of real, pathological nuclei. Funded by US DoE Award DEFG02-08ER46539 and by the DDR&E and AFOSR under Award FA9550-10-1-0167; simulations performed on NU Quest cluster

  1. Sebaceous Naevus Located in Nasal Cavity – A Unique Case

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    Iffat Hassan

    2012-01-01

    Full Text Available Sebaceous naevi are congenital hamartomas comprising of sebaceous glands. They usually present at birth or may appear later as single lesion. The morphology of the lesion changes around puberty when it becomes thickened and nodular. Sebaceous naevus has definite potential for malignant transformation in later life therefore prophylactic surgical excision is recommended in childhood. The common sites of occurrence of naevus sebaceus are scalp and face. Involvement of mucus membrane is extremely rare in naevus sebaceous. We report this unusual case of naevus sebaceous located in nasal cavity involving nasal mucosa.

  2. Reproductive biology of cuckoo ray Leucoraja naevus.

    Science.gov (United States)

    Maia, C; Erzini, K; Serra-Pereira, B; Figueiredo, I

    2012-09-01

    The present study is the first to provide data on the reproductive biology of cuckoo ray Leucoraja naevus in Portuguese continental waters. No difference in size at maturity was detected between sexes, which was estimated as 56 cm total length. Spawning occurs all year round, but maximum activity was during winter months. Maximum fecundity is c. 63 eggs female(-1) year(-1). Encapsulated eggs are released in batches, nine in total with a mean number of seven extruded eggs in each batch.

  3. bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.

    Directory of Open Access Journals (Sweden)

    Kerry A Miller

    Full Text Available Fras1 is an extracellular matrix associated protein with essential roles in adhesion of epithelia and mesenchyme during early embryonic development. The adhesive function of Fras1 is achieved through interaction with a group of related proteins, Frem 1-3, and a cytoplasmic adaptor protein Grip1. Mutation of each of these proteins results in characteristic epithelial blistering and have therefore become known as "blebs" proteins. Human Fraser syndrome presents with a similar phenotype and the blebs mice have been instrumental in identification of the genetic basis of Fraser syndrome. We have identified a new ENU-induced blebs allele resulting from a novel missense mutation in Fras1. The resulting mouse strain, blood filled blisters (bfb, presents with a classic blebs phenotype but does not exhibit embryonic lethality typical of other blebs mutants and in addition, we report novel palate and sternal defects. Analysis of the bfb phenotype confirms the presence of epithelial-mesenchymal adhesion defects but also supports the emerging role of blebs proteins in regulating signalling during organogenesis. The bfb strain provides new opportunities to investigate the role of Fras1 in development.

  4. Naevus lipomatosus cutaneous superficialis : Report of 2 cases

    Directory of Open Access Journals (Sweden)

    Thappa D

    1992-01-01

    Full Text Available Two cases of naevus lipomatosus cutaneous superficialis (NLCS are reported. One of them was a case of multiple form of NLCS while other was having cutaneous lesions resembling solitary form of NLCS.

  5. Acral-lentiginous naevus of plantar skin.

    Science.gov (United States)

    Clemente, C; Zurrida, S; Bartoli, C; Bono, A; Collini, P; Rilke, F

    1995-12-01

    In a consecutive series of 165 plantar naevi, a group of 36 benign naevi with sufficiently distinctive histopathological features to justify their classification as a special entity, here designated acral-lentiginous naevus, was identified. The main morphological features distinguishing the acral-lentiginous naevi from other acral non-lentiginous naevi are: elongation of rete ridges, continuous proliferation of melanocytes at the dermo-epidermal junction, presence of single scattered melanocytes, or less commonly small clusters, within the upper epidermis, poor or absent lateral circumscription, melanocytes with abundant pale cytoplasm and round to oval, sometimes hyperchromatic, nuclei and prominent nucleoli present at the dermo-epidermal junction. Some histological features of acral-lentiginous naevi are similar to those of dysplastic naevi: however, anastomosing rete ridges, cytological atypia and well-formed lamellar fibroplasia are absent. The histopathological criteria to distinguish these naevi from melanoma are: the lack of pagetoid lateral spread, the absence of mitotic activity in the deep dermal component and the evidence of dermal naevocytic differentiation. The identification of this benign acral naevus, that we have identified as the benign counterpart of acral lentiginous melanoma, is important in order to avoid misdiagnoses and consequent under- or over-treatment of doubtful pigmented lesions of acral skin.

  6. Hypopigmented pityriasis versicolor on Becker′s naevus : Hope for new method of treatment ?

    Directory of Open Access Journals (Sweden)

    Singal Archana

    1998-01-01

    Full Text Available A case of hypopigmented pityriasis versicolor superimposed on pre existing Becker′s naevus associated with congenital melanocytic naevus is being reported for its rarity. The possible role of dicarboxylic acid and other free radicles produced by Pityrosporum ovale in treating Becker′s Naevus is also suggested.

  7. Evaluation of filtering blebs using the ‘Wuerzburg bleb classification score’ compared to clinical findings

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    Furrer Sandra

    2012-07-01

    Full Text Available Abstract Background To determine the agreement between intraocular pressure and the ‘Wuerzburg bleb classification score’, as well as between single items of the score and intraocular pressure. Interobserver variability was analyzed. Methods 57 post-trabeculectomy eyes were included. Colour photographs were used to score the filtering bleb in accordance to the Wuerzburg bleb classification score by two different examiners. At the same visit, clinical data such as intraocular pressure, best corrected visual acuity, slit lamp biomicroscopy and medical history were obtained by another examiner. Results After trabeculectomy, 42 out of 57 eyes (73.7% reached the target pressure (≤21mmHg, and intraocular pressure reduction of at least 20%, without antiglaucoma medication, and without any additional intervention. Fair agreement was found between intraocular pressure and Wuerzburg bleb classification score ≥8 points and ≥7 points (kappa 0.24 and 0.27, respectively. Analyzing the subgroups of the morphological criteria, best agreement was found between occurrence of microcysts and target intraocular pressure (к 0.22 – 0.34. Conclusions Evaluating filtering blebs after trabeculectomy by using the Wuerzburg bleb classification score is a good technique for predicting intraocular pressure control in eyes attaining a minimum score of seven points. The presence of microcysts on the filtering bleb predicts that the eye is likely to attain target pressure.

  8. Computer simulation of cytoskeleton-induced blebbing in lipid membranes

    DEFF Research Database (Denmark)

    Spangler, E. J.; Harvey, C. W.; Revalee, J. D.

    2011-01-01

    Blebs are balloon-shaped membrane protrusions that form during many physiological processes. Using computer simulation of a particle-based model for self-assembled lipid bilayers coupled to an elastic meshwork, we investigated the phase behavior and kinetics of blebbing. We found that blebs form...

  9. Clinical dermatoscopy of big melanocytic naevuses in patients with psoriasis

    Directory of Open Access Journals (Sweden)

    Makarova N.G.

    2012-06-01

    Full Text Available

    The study aimed to determine clinical characteristics of dermatoscopy of big melanocytic naevuses (MN in patients with psoriasis. Methods. The were 32 patients with psoriasis (11 women at an average age of 37,4 years and 100 people (79 women at an average age of 27,8 years with no psoriasis. Both groups had a survey and full photometry screening of skin. Besides Fitzpatrick skin typing test was used, pigmentary formations were examined using dermato-scope HEINE MINI 3000 10X with 70 % ethyl alcohol immersion. Naevuses were estimated by ABCD and ABC scales. Results. MN more than 5 mm in diameter are more often in patients with psoriasis (68,8 % than in control group (37 %. However in control group there are less naevuses of appropriate dermatological dysplastic formations criteria (32 % comparison to the group without psoriasis (42 %. There is an important fact that patients with psoriasis often have 2-phototype of skin and artifcial insolation (tanning bed, PUVA, narrow-band phototherapy 311 nm. Conclusion. 68,8 % patients have MN more than 5 mm in diameter. 32 % of patients with psoriasis had MN of dysplastic naevus criteria according to Pehamberger. In one patient naevus was of appropriate malignant tumors criteria according to ABCD and ABC scales.

  10. Computer Simulation of Cytoskeleton-Induced Blebbing in Lipid Membranes

    CERN Document Server

    Spangler, Eric J; Revalee, Joel D; Kumar, P B Sunil; Laradji, Mohamed

    2011-01-01

    Blebs are balloon-shaped membrane protrusions that form during many physiological processes. Using computer simulation of a particle-based model for self-assembled lipid bilayers coupled to an elastic meshwork, we investigated the phase behavior and kinetics of blebbing. We found that blebs form for large values of the ratio between the areas of the bilayer and the cytoskeleton. We also found that blebbing can be induced when the cytoskeleton is subject to a localized ablation or a uniform compression. The results obtained are qualitatively in agreement with the experimental evidence and the model opens up the possibility to study the kinetics of bleb formation in detail.

  11. Congenital cerebriform melanocytic naevus with cutis verticis gyrata

    Directory of Open Access Journals (Sweden)

    Pai Vishaka

    2002-11-01

    Full Text Available Congenital melanocytic naevus is hamortomatous or non-neoplastic proliferation of abnormal mixture of tissue′s or non-neoplastic proliferation of abnormal mixture of tissue′s normal components. Cutis verticis gyrata is hypertrophy with parallel or gyrate folds of skin of scalp. We report a young man who presented to us with hair loss on the back of the head and increased growth of hair over the upper back since birth. A biopsy proved the diagnosis of congenital melanocytic naevus.

  12. Complications and Management of the Filtration Bleb

    Institute of Scientific and Technical Information of China (English)

    Clement; W; N; Chan

    1992-01-01

    Filtration surgery is the commonest operation performed for closed angle or open angle glaucoma when medical treatment or laser trabeculoplasty has failed to control the intraocular pressure. It is characterized by the formation of an artificial drainage fistula between the anterior chamber and subconjunctival space. The successful operation is evidenced by the appearance of a subconjunctival filtration bleb which in turn depends on the patency of this pathway. Despite numerous modification, the procedu...

  13. Bleb Point: Mimicker of Pneumothorax in Bullous Lung Disease

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    Gelabert, Christopher

    2015-05-01

    Full Text Available In patients presenting with severe dyspnea, several diagnostic challenges arise in distinguishing the diagnosis of pneumothorax versus several other pulmonary etiologies like bullous lung disease, pneumonia, interstitial lung disease, and acute respiratory distress syndrome. Distinguishing between large pulmonary bullae and pneumothorax is of the utmost importance, as the acute management is very different. While multiple imaging modalities are available, plain radiographs may be inadequate to make the diagnosis and other advanced imaging may be difficult to obtain. Ultrasound has a very high specificity for pneumothorax. We present a case where a large pulmonary bleb mimics the lung point and therefore inaccurately suggests pneumothorax. [West J Emerg Med. 2015;16(3:447–449.

  14. Bleb incarceration following Ahmed valve surgery

    Directory of Open Access Journals (Sweden)

    Gross FJ

    2016-10-01

    Full Text Available Fredric J Gross, Giovanni DiSandro Department of Ophthalmology, Eastern Virginia Medical School, Norfolk, VA, USA Abstract: Globe luxation is a painful and potentially vision-threatening condition in which the globe becomes trapped behind the eyelids requiring physician intervention in the emergency department or eye clinic. On presentation, the patient typically complains of an inability to close their eye, severe foreign body sensation, decreased vision, and significant eye pain. Although most visual symptoms are reversible and primarily result from exposure keratopathy, optic nerve damage, and permanent vision loss can occur from repeat or prolonged episodes of globe luxation. Risk factors include any congenital or acquired conditions that displace the globe anteriorly in the orbit and increased eyelid laxity that allows the globe to prolapse through the lid aperture. Typically, the precipitating event involves eyelid retraction during ophthalmic examination or an event that increases intraorbital pressure such as coughing or sneezing. Once the globe has luxated, the condition is typically worsened by blepharospasm and patients’ attempts to close the eye that worsen the entrapment. In the current case, the patient had a large superotemporal filtering bleb following Ahmed valve surgery for uncontrolled glaucoma. While instilling her glaucoma medication, she retracted her eyelids sufficiently to pull the upper lid over her filtering bleb where it became entrapped causing a similar presentation to globe luxation. Traditional methods of repositioning the globe were unsuccessful. Bleb needling was ultimately required to return the globe to a normal position. Keywords: luxation, globe, glaucoma

  15. Cellular blebs: pressure-driven, axisymmetric, membrane protrusions

    KAUST Repository

    Woolley, Thomas E.

    2013-07-16

    Blebs are cellular protrusions that are used by cells for multiple purposes including locomotion. A mechanical model for the problem of pressure-driven blebs based on force and moment balances of an axisymmetric shell model is proposed. The formation of a bleb is initiated by weakening the shell over a small region, and the deformation of the cellular membrane from the cortex is obtained during inflation. However, simply weakening the shell leads to an area increase of more than 4 %, which is physically unrealistic. Thus, the model is extended to include a reconfiguration process that allows large blebs to form with small increases in area. It is observed that both geometric and biomechanical constraints are important in this process. In particular, it is shown that although blebs are driven by a pressure difference across the cellular membrane, it is not the limiting factor in determining bleb size. © 2013 Springer-Verlag Berlin Heidelberg.

  16. Rescue of failed filtering blebs with ab interno trephination.

    Science.gov (United States)

    Shihadeh, Wisam A; Ritch, Robert; Liebmann, Jeffrey M

    2006-06-01

    We evaluated the effectiveness of ab interno automated trephination as a technique for rescuing failed mature filtering blebs. A retrospective chart review of 40 failed blebs of 38 patients who had a posttrephination follow-up period of at least 3 months was done. With success defined as intraocular pressure (IOP) control with other modalities of management. Complications were few. We believe that ab interno trephination is an excellent option for rescuing selected failed filtering blebs.

  17. A new species of the leafhopper genus Naevus Knight, 1970 (Hemiptera: Cicadellidae: Deltocephalinae: Opsiini), from Saudi Arabia.

    Science.gov (United States)

    El-Sonbati, Saad A; Wilson, Michael R; Al Dhafer, Hathal M

    2015-12-22

    The genus Naevus Knight, 1970 is recorded from the mountains of southwestern Saudi Arabia, the first record from the Arabian Peninsula. A new species, Naevus hathali El-Sonbati & Wilson sp. n. is described here, which appears to have an asymmetric aedeagus. An illustrated key to Naevus species is presented to facilitate identification.

  18. Development of apical blebbing in the boar epididymis.

    Directory of Open Access Journals (Sweden)

    Jennifer Hughes

    Full Text Available Microvesicles are of increasing interest in biology as part of normal function of numerous systems; from the immune system (T cell activation to implantation of the embryo (invasion of the trophoblasts and sperm maturation (protein transfer in the epididymis. Yet, the mechanisms involved in the appearance of apical blebbing from healthy cells as part of their normal function remain understudied. Microvesicles are produced via one of two pathways: exocytosis or apical blebbing also termed ectocytosis. This work quantifies the histological appearance of apical blebbing in the porcine epididymis during development and examines the role of endogenous estrogens in regulating this blebbing. Apical blebbing appears at puberty and increases in a linear manner into sexual maturity suggesting that this blebbing is a mature phenotype. Endogenous estrogen levels were reduced with an aromatase inhibitor but such a reduction did not affect apical blebbing in treated animals compared with their vehicle-treated littermates. Epididymal production of apical blebs is a secretion mechanism of functionally mature principal cells regulated by factors other than estradiol.

  19. Tattooing with electrocauterization: A cosmetically acceptable therapeutic modality for a single halo naevus

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    Mahajan B

    2002-01-01

    Full Text Available Two cases of single lesion halo naevus were treated with tattooing followed by electrocauterization resulting in good cosmetic acceptability. Tattooing with electrocauterization should be tried as a new therapeutic modality in a single lesion halo naevus especially on exposed parts of the body to avoid the unavoidable psychological trauma.

  20. Morphology of functioning trabeculectomy blebs using anterior segment optical coherence tomography

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    Mayuri B Khamar

    2014-01-01

    Full Text Available Purpose: To image trabeculectomy blebs using anterior segment optical coherence tomography (AS-OCT, and to correlate the bleb morphologic features at one month postoperatively with bleb function at six months. Materials and Methods: This prospective, observational study included 56 eyes undergoing trabeculectomy with MMC, followed up for minimum of six months. Postoperatively, bleb imaging was done using AS-OCT at one and six month. Bleb morphology was assessed for bleb wall reflectivity, bleb pattern in multiform reflectivity, visibility of drainage route and presence of hyper-reflectivity area. Bleb function was considered successful if IOP was <18 mmHg without medication at six month. Bleb morphology one month postoperatively was correlated with bleb function at six months. Results: At six months successful bleb function was noted in 44 (81.5% eyes. Morphology of bleb at one month showed uniform bleb wall reflectivity in 6 eyes (11% and multiform wall reflectivity in 48 eyes (89%. In eyes with multiform wall reflectivity, microcysts with multiple layers was seen in 26 eyes (48%, microcysts with subconjunctival separation in 12 eyes (22% and only microcyst in 10 eyes (19%. When bleb features at one month were correlated with the bleb function at six months, logistic regression analysis revealed that blebs with multiform reflectivity with multiple internal layers with microcysts were associated with higher chances of success (P < 0.001. Conclusion : AS-OCT demonstrated early bleb morphological features that may be used to predict the functioning of a bleb. Multiform bleb wall reflectivity with a pattern of multiple internal layers and microcysts was associated with increased chances of success of a bleb.

  1. Reversible bleb formation in mast cells stimulated with antigen is Ca2+-calmodulin –dependent and bleb size is regulated by ARF6

    OpenAIRE

    Yanase, Yukki; Carvou, Nicolas; Frohman, Michael A.; Cockcroft, Shamshad

    2009-01-01

    Abstract Mast cells stimulated with antigen undergo extensive changes in their cytoskeleton. We assess here the impact of actin-modifying drugs and report that in the presence of cytochalasin D, mast cells stop membrane ruffling but instead bleb. Bleb formation is reversible following washout of the cytochalasin D and occurs in an actin polymerization-dependent manner. Bleb formation is inhibited by expression of dominant-negative ezrin-T567D. Blebbing is also inhibited by blebbist...

  2. The size, shape, and dynamics of cellular blebs

    CERN Document Server

    Lim, Fong Yin; Mahadevan, L

    2015-01-01

    A cellular bleb grows when a portion of the cell membrane detaches from the underlying cortex under the influence of a cytoplasmic pressure. We develop a quantitative model for the growth and dynamics of these objects in a simple two-dimensional setting. In particular, we first find the minimum cytoplasmic pressure and minimum unsupported membrane length for a stationary bleb to nucleate and grow as a function of the membrane-cortex adhesion. We next show how a bleb may travel around the periphery of the cell when the cytoplasmic pressure varies in space and time in a prescribed way and find that the traveling speed is governed by the speed of the pressure change induced by local cortical contraction while the shape of the traveling bleb is governed by the speed of cortical healing. Finally, we relax the assumption that the pressure change is prescribed and couple it hydrodynamically to the cortical contraction and membrane deformation. By quantifying the phase space of bleb formation and dynamics, our framew...

  3. Intra-bleb hematoma and hyphema following digital ocular compression

    Directory of Open Access Journals (Sweden)

    Sagar Bhargava

    2014-01-01

    Full Text Available We report successful outcome of a huge post- trabeculectomy intra-bleb hematoma and hyphema that occurred following digital ocular compression. The patient was a 64-year-old lady suffering from bilateral primary angle closure glaucoma and cataract. She was on anti-platelet therapy. She underwent single-site phacoemulsification, intra-ocular lens implantation and trabeculectomy with mitomycin C in the right eye. The trabeculectomy was under-filtering. She was asked to perform digital ocular compression thrice daily. On 15 th post-operative day, she presented with a huge intra-bleb hematoma and hyphema. The hematoma did not respond to conservative measures and was drained to prevent bleb failure. We recommend caution in the consideration of digital ocular compression in patients on prophylactic anti-coagulation.

  4. NEEDLE REVISION WITH MITOMYCIN-C IN ENCAPSULATED BLEBS

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    R Zarei

    2008-08-01

    Full Text Available "nThe most common cause of failure during the first trimester after trabeculectomy is encapsulated bleb and needling bleb revision is a less invasive method in the management of refractory cases. The purpose of this study is to determine the efficacy and safety of mitomycin-C (MMC augmented bleb revision of failed filtration surgery. This study is a before-after (paired observation. 33 patients with failed trabeculectomy because of bleb encapsulation, whose intraocular pressure (IOP was not reduced under 21 mmHg despite of medications and digital massage , underwent needling bleb revision and subconjunctival injection of 0.1 ml MMC (0.4 mg/ml.The mean follow-up time was 9.24 ± 5.27 months (1-20 months. Statistical analysis of the data included the paired two-tailed Student's t test for preoperative and postoperative IOP and number of medications. 36 needling procedures (mean, 1.09 ± 0.21 revisions per eye were performed on 33 eyes. Patients were between 10-80 years old (mean, 45.67 ± 22.41 years and mean follow-up was 9.24 ± 5.27 months. IOP decreased from 29.06 ± 5.03 mmHg to 18.21 ± 6.76 mmHg at last follow-up (P= 0.000. Antiglaucoma medications decreased from 2.18 ± 0.58 to 1.36 ± 0.29 at last follow-up (P= 0.000.Overall, 6 (18.2% of 33 cases achieved a complete success and 20 (60.6% of cases achieved a qualified success. The complications of this procedure were subconjunctival hemorrhage (17 cases, hyphema (5 cases and conjunctival button hole (2 cases. Needling bleb revision with mitomycin-C appears to be an effective and relatively safe way to revive failed filtration surgery.

  5. Sturge-Weber syndrome: a case report

    OpenAIRE

    Luiz Felipe G. dos Santos; Joanna G. da Conceição; Thaís Pimentel de Sá Bahia; Vanessa de A. S. Silva; Maria Eliza Barbosa Ramos; Mônica Israel

    2011-01-01

    Introduction: The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. Objective: To report a clinical case of Sturge-Weber Syndrome in a 29-yeral-old male patient who presented oral manifestations related to the syndrome. Case report and conclusion: The patient re...

  6. Quantitating membrane bleb stiffness using AFM force spectroscopy and an optical sideview setup.

    Science.gov (United States)

    Gonnermann, Carina; Huang, Chaolie; Becker, Sarah F; Stamov, Dimitar R; Wedlich, Doris; Kashef, Jubin; Franz, Clemens M

    2015-03-01

    AFM-based force spectroscopy in combination with optical microscopy is a powerful tool for investigating cell mechanics and adhesion on the single cell level. However, standard setups featuring an AFM mounted on an inverted light microscope only provide a bottom view of cell and AFM cantilever but cannot visualize vertical cell shape changes, for instance occurring during motile membrane blebbing. Here, we have integrated a mirror-based sideview system to monitor cell shape changes resulting from motile bleb behavior of Xenopus cranial neural crest (CNC) cells during AFM elasticity and adhesion measurements. Using the sideview setup, we quantitatively investigate mechanical changes associated with bleb formation and compared cell elasticity values recorded during membrane bleb and non-bleb events. Bleb protrusions displayed significantly lower stiffness compared to the non-blebbing membrane in the same cell. Bleb stiffness values were comparable to values obtained from blebbistatin-treated cells, consistent with the absence of a functional actomyosin network in bleb protrusions. Furthermore, we show that membrane blebs forming within the cell-cell contact zone have a detrimental effect on cell-cell adhesion forces, suggesting that mechanical changes associated with bleb protrusions promote cell-cell detachment or prevent adhesion reinforcement. Incorporating a sideview setup into an AFM platform therefore provides a new tool to correlate changes in cell morphology with results from force spectroscopy experiments.

  7. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S;

    2008-01-01

    bleeding during the first 3 years of life. Afterwards repeated endoscopic electrocoagulations were performed over a period of one year resulting in a termination of bleeding episodes. At ten years of age the patient developed spastic diplegia with slight walking disabilities, coordination and fine motor...... problems. The case is unique because 1) it is the first neonatal case with BRBNS and severe gastrointestinal bleeding; 2) the patient was successfully treated by endoscopic electrocoagulation; and 3) the long-term follow-up. The use of electrocoagulation appears to have been effective and ablation...

  8. Height and bone mineral density are associated with naevus count supporting the importance of growth in melanoma susceptibility.

    Directory of Open Access Journals (Sweden)

    Simone Ribero

    Full Text Available Naevus count is the strongest risk factor for melanoma. Body Mass Index (BMI has been linked to melanoma risk. In this study, we investigate the link between naevus count and height, weight and bone mineral density (BMD in the TwinsUK cohort (N = 2119. In addition we adjusted for leucocyte telomere length (LTL as LTL is linked to both BMD and naevus count. Naevus count was positively associated with height (p = 0.001 but not with weight (p = 0.187 despite adjusting for age and twin relatedness. This suggests that the previously reported melanoma association with BMI may be explained by height alone. Further adjustment for LTL did not affect the significance of the association between height and naevus count so LTL does not fully explain these results. BMD was associated with naevus count at the spine (coeff 18.9, p = 0.01, hip (coeff = 18.9, p = 0.03 and forearm (coeff = 32.7, p = 0.06 despite adjusting for age, twin relatedness, weight, height and LTL. This large study in healthy individuals shows that growth via height, probably in early life, and bone mass are risk factors for melanoma via increased naevus count. The link between these two phenotypes may possibly be explained by telomere biology, differentiation genes from the neural crests but also other yet unknown factors which may influence both bones and melanocytes biology.

  9. Becker′s Naevus Of The Lower Limb : An Unusual Site

    Directory of Open Access Journals (Sweden)

    Rathi Sanjay K

    2002-01-01

    Full Text Available Two males aged 18 and 20 years old presented with asymptomatic brown macules with hypertrichosis on the left thigh. Becker’s naevus less commonly involves the lower limb, a site which is reported in only 3% of the patients.

  10. Evaluating subconjunctival bleb function after trabeculectomy using slit-lamp optical coherence tomography and ultrasound biomicroscopy

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yi; WU Qiang; ZHANG Min; SONG Bei-wen; DU Xin-hua; LU Bin

    2008-01-01

    Background The existing classifications for evaluating glaucoma filtering blebs rely mostly on external blebcharacteristics and the postoperative control of intraocular pressure (lOP). Internal bleb structures are not carefullyobserved. This study aimed to analyze and compare glaucoma filtering bleb morphology using slit-lamp-adapted opticalcoherence tomography (SL-OCT) and ultrasound biomicroscopy (UBM), and to classify blebs according to results andintraocular pressure.Methods We followed 29 eyes of 21 male patients and 40 eyes of 32 female patients who underwent glaucoma filtering surgery in Sixth People's Hospital of Shanghai, between 2002 and 2006. The blebs were imaged using SL-OCT and UBM and classified according to the intrableb morphology and control of lOP after surgery. A Fisher's exact test was used to compare the sensitivity for predicting a functioning bleb differed significantly between SL-OCT and UBM. A Fisher's exact test was also used for morphological analysis of the trabeculectomy blebs based on SL-OCT.Results In the 69 eyes, there were 45 (65.2%) functioning blebs and 24 (34.8%) non-functioning blebs. We classified the blebs into four categories on the basis of SL-OCT images: diffuse, cystic, encapsulated and flat. Diffuse and cystic blebs were typically functional, whereas the other two types were always non-functional. The sensitivity of SL-OCT for predicting a functioning bleb was 92.7% (38/41 eyes) and specificity of predicting a non-functioning bleb was 83.3% (20/24 eyes). By contrast, sensitivity of UBM was 66.7% (30/45 eyes) and specificity was 75.0% (18/24 eyes). The sensitivity for predicting a functioning bleb differed significantly between the two techniques (P=0.003).Conclusions SL-OCT provides high-axial-resolution images of anterior segment structures. The non-contact approach of SL-OCT enables visualization of intrableb structures at any time after surgery. SL-OCT has greater sensitivity and specificity than UBM in evaluating

  11. Reversible bleb formation in mast cells stimulated with antigen is Ca2+/calmodulin-dependent and bleb size is regulated by ARF6.

    Science.gov (United States)

    Yanase, Yuhki; Carvou, Nicolas; Frohman, Michael A; Cockcroft, Shamshad

    2009-12-14

    Mast cells stimulated with antigen undergo extensive changes in their cytoskeleton. In the present study, we assess the impact of actin-modifying drugs and report that, in the presence of cytochalasin D, mast cells stop membrane ruffling, but instead bleb. Bleb formation is reversible following washout of cytochalasin D and occurs in an actin-polymerization-dependent manner. Bleb formation is inhibited by expression of constitutively active ezrin-T567D. Blebbing is also inhibited by blebbistatin, a myosin II inhibitor, implying myosin II activation in the process. We used a selection of inhibitors and observed that myosin II activation is dependent mainly on Ca2+-calmodulin, with only a small contribution from Rho kinase. The signalling pathways stimulated by antigen include PLC (phospholipase C) and PLD (phospholipase D). Bleb formation was dependent on activation of PLC, but not PLD. Primary alcohols, used previously as a means to reduce PLD-derived phosphatidic acid, were potent inhibitors of membrane blebbing, but a more selective inhibitor of PLD, FIPI (5-fluoro-2-indolyl des-chlorohalopemide), was without effect. FIPI also did not inhibit membrane ruffling or degranulation of mast cells, indicating that inhibition by primary alcohols works through an unidentified mechanism rather than via diversion of PLD activity as assumed. We also examined the requirement for ARF6 (ADP-ribosylation factor 6) and observed that its expression led to an increase in bleb size and a further increase was observed with the dominant-active mutant, ARF6-Q67L. Since ARF6-T27N had no effect on bleb size, we conclude that ARF6 needs to be active to regulate the size of the blebs.

  12. Bleb Revision using Reversed Scleral Flap and Pedical Conjunctival Graft.

    Science.gov (United States)

    Sharma, Sourabh; Patel, Dhaval; Sharma, Reetika; Dada, Tanuj

    2012-01-01

    Bleb revision for hypotony maculopathy following trabeculectomy is an effective technique for raising intraocular pressure and limiting visual loss. The presence for scleral fistula causing over-filtration obviates the need for reinforcing materials, such as donor sclera or pericardium to cover the defect. However, if the surrounding scleral tissue is healthy, a partial thickness scleral flap can be upturned and sutured over the fistula. Moreover, a vascularized pedical conjunctival graft can also be used in cases where there is a large conjunctival defect.

  13. STURGE WEBER SYNDROME WITH UNUSUAL INTRACRANIAL FINDINGS: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shailendra Kumar

    2014-04-01

    Full Text Available The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. We hereby are reporting a clinical case of Sturge-Weber Syndrome in a 16 year old female patient who presented with oral, cutaneous and ocular manifestations related to the syndrome.

  14. ON NEVI AND MELANOMAS IN DYSPLASTIC NEVUS SYNDROME PATIENTS

    NARCIS (Netherlands)

    CRIJNS, MB; BERGMAN, W; Berger, MJ; HERMANS, J; SOBER, AJ

    1993-01-01

    Cutaneous melanoma may occur as isolated, so-called 'sporadic' cases or in association with multiple atyical naevi and in familial clusters, in which case it is referred to as the familial dysplastic naevus syndrome (DNS). In this retrospective study (a) the number and body distribution of naevocyti

  15. Early cystic bleb needling revision after glaucoma filtering surgery with toxic keratopathy

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    S. Yu. Petrov

    2015-01-01

    Full Text Available Clinical case of high thin-wall cystic limited filtering bleb needling revision in the early post-op period after trabeculectomy with sinusotomy accompanied by toxic keratopathy is presented. Optical coherence tomography (OCT demonstrated that filtering bleb height was 2700 μm and bleb wall thickness was 70 μm. Bleb needling revision with its lateralwall dissection and subconjunctival injection of dexamethasone, fluorouracil, and ranibizumab near to the bleb site was performed. In 1.5 hours after the procedure, bleb height decreased to 550 μm (by 5 times while bleb wall thickness increased up to 100 μm. Topical antibacterial, steroid, and non-steroid anti-inflammatory therapy was recommended. The next day IOP level reduced from 11 mm Hg to 4.5 mm Hg. It was accompanied by choroidal effusion that was managed conservatively with cycloplegic agents (drops and injections for 3 days. On day 6, central corneal edema affecting all layers, Descemet’s membrane folds, and ocular hypertension were revealed. Metabolic therapy resolved corneal edema within 3 days. Re-needling bleb revision decreased IOP level to 6.2 mm Hg. This resulted in transient Descemet’s membrane folds. This paper describes filtering bleb needling revision with its lateral wall dissection and anti-inflammatory, cytostatic, and anti-VEGF agents use to prolong glaucoma filtering surgery effect in excessive scarring. The procedure was accompanied by toxic corneal endothelium decompensation with corneal edema and Descemet’s membrane folds treated with active metabolic therapy.

  16. Human pericardium graft in the management of bleb's complication performed in childhood: a case report

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    Koutsandrea Chrysanthi

    2011-09-01

    Full Text Available Abstract Background To report a case with hypotony due to late leakage of the filtering bleb performed during childhood and treated surgically using human pericardium graft. Case Presentation A man with hypotony related to bleb's leakage in his right eye was presented. During his childhood trabeculectomy was performed to manage ocular hypertension due to pediatric glaucoma. Biomicroscopy revealed choroidal tissue incarcerated in the sclerectomy under the conjunctiva. Bleb revision was performed. Human pericardium graft was used to cover the sclerectomy and a new bleb with controlled outflow was created. The intraocular pressure (IOP and Seidel test represent the main outcomes. Intraoperative and postoperative complications were recorded. Fifteen days postoperatively the IOP was of 7 mmHg and the bleb seemed to filter properly. Five months later the IOP was 9 mmHg and no complications were noticed. During the follow up time, the Seidel test was negative. Conclusion We used human pericardium graft with no complications in a case of bleb leakage performed for pediatric glaucoma.

  17. Case of squamous cell carcinoma developed in isotope-treated blue naevus

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    Nishii, Masami; Unita, Mieko; Shimizu, Masayuki (Mie Univ., Tsu (Japan). School of Medicine)

    1983-12-01

    A 29-year-old male patient underwent isotope radiation therapy for blue naevus of the right precordium and forearm every three months for two years form the age of 7 years. He developed a tumor on the irradiated site of the precordium at the age of 27 years. Histology showed chronic radiation dermatitis with squamous cell carcinoma. In spite of the removal of the tumor, he had a relapse ten months later, and underwent the extirpation of the tumor with resection of the sternum and claviculae, and with skin graft using a musculocutaneous flap.

  18. Soft Bandage Contact Lenses in Management of Early Bleb Leak Following Trabeculectomy

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    Zhenggen Wu; Chukai Huang; Yuqiang Huang; Wanqi Zhang; Di Ma

    2015-01-01

    Purpose:To investigate the efficacy of a soft bandage contact lens in the management of early bleb leak following tra-beculectomy. Methods: Between October 2011 and April 2013, 11 patients with early bleb leak following fornix-based trabeculectomy were instructed to wear a soft bandage contact lens 14 mm in diameter continuously for 1-2 weeks. The daily visual acuity, intraocular pressure (IOP), anterior chamber situation, and healing condition were measured at 1, 3, and 7 d, after con tact lens removal,.and 3 months after trabeculectomy..The con-ditions of blebs,.sensation of wearing contact lens,.and ad-verse events were recorded. Results:.Bleb leaks were observed at 2-8 d after surgery, (4.09±1.10 d on average). The daily LogMAR visual acuity did not significantly differ before and after contact lens wear (P>0.05). The IOP was significantly raised after at 1, 3, and 7 d after lens wear. (all P<0.05).The IOP at 3 months after lens wear did not significantly differ from that measured at lens removal (t=1.191, P=0.089). At 1 d after lens wear, 6 cases had deeper anterior chambers..All patients presented with a significantly deepened anterior chamber at 3 d after lens wear,.and were restored to the preoperative conditions..The bleb leakage was successfully treated at 7 d after lens removal in 10 patients, while 1 patient had to wear the contact lens for another 7 d for full healing of the bleb leak. No ocular infec-tion was noted throughout the management. Conclusion: A soft bandage contact lens of 14 mm diameter is a safe and efficacious therapy for an early bleb leak fol-lowing fornix-based trabeculectomy.

  19. Erk regulation of actin capping and bundling by Eps8 promotes cortex tension and leader bleb-based migration.

    Science.gov (United States)

    Logue, Jeremy S; Cartagena-Rivera, Alexander X; Baird, Michelle A; Davidson, Michael W; Chadwick, Richard S; Waterman, Clare M

    2015-07-11

    Within the confines of tissues, cancer cells can use blebs to migrate. Eps8 is an actin bundling and capping protein whose capping activity is inhibited by Erk, a key MAP kinase that is activated by oncogenic signaling. We tested the hypothesis that Eps8 acts as an Erk effector to modulate actin cortex mechanics and thereby mediate bleb-based migration of cancer cells. Cells confined in a non-adhesive environment migrate in the direction of a very large 'leader bleb.' Eps8 bundling activity promotes cortex tension and intracellular pressure to drive leader bleb formation. Eps8 capping and bundling activities act antagonistically to organize actin within leader blebs, and Erk mediates this effect. An Erk biosensor reveals concentrated kinase activity within leader blebs. Bleb contents are trapped by the narrow neck that separates the leader bleb from the cell body. Thus, Erk activity promotes actin bundling by Eps8 to enhance cortex tension and drive the bleb-based migration of cancer cells under non-adhesive confinement.

  20. Bleb related infections: clinical characteristics, risk factors, and outcomes in an Asian population

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    Yap ZL

    2016-11-01

    Full Text Available Zhu Li Yap,1,2 You Chuen Chin,1 Judy Yu-Fen Ku,1 Tat Keong Chan,1,2 Gillian Teh,1,2 Monisha Esther Nongpiur,2,3 Tin Aung,1,2 Shamira A Perera1–3 1Singapore National Eye Centre, Singapore; 2Singapore Eye Research Institute, Singapore; 3Duke NUS Graduate Medical School, Singapore Purpose: Comparison of the demographic, ocular, systemic and microbiological characteristics of eyes with bleb related infection (BRI and bleb related endophthalmitis (BRE. Methods: Retrospective chart review of patients with BRI from January 1996–July 2013. Identification done via the center’s longstanding endophthalmitis audit, BRI audit and laboratory database identifying all conjunctival swabs from blebs. Blebitis was defined as anterior segment inflammation with mucopurulent material in or around the bleb, with anterior chamber cells but no hypopyon. BRE was defined by the presence of hypopyon or vitreous inflammation. Results: Twenty-nine patients with blebitis and 10 with BRE were identified. Mean age of subjects (n=39 was 68.4 (±13.3 with a preponderance of men (74.4% and Chinese ethnicity (74.4%. BRE patients were 10.7 years older than blebitis patients (P=0.026. 28 (71.8% subjects had primary open angle glaucoma. The presenting intraocular pressure (IOP dropped in blebitis but almost doubled in BRE (P=0.011 compared to average preinfective IOP. Two weeks after treatment, IOPs in both groups returned to close to preinfective levels. Subjects with blebitis more often had an avascular bleb (88.0% while those with BRE trended toward a moderately vascular bleb (50%. The distribution of causative microorganisms between the groups was similar. Conclusion: Our study indicates that risk factors are similar in both groups even though the visual outcome and clinical course, in the form of IOP findings and bleb vascularity, can diverge significantly. The decreased IOP in blebitis subjects represents objective evidence of subclinical leaks or bleb sweating. Keywords

  1. Change in a child’s naevus prompts referral to a dermatology service

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    Cheng H

    2014-06-01

    Full Text Available INTRODUCTION: Although melanoma is rare in children, parental concern about skin lesions often results in specialist referral and/or excision of benign lesions. AIM: To review dermatology referrals of children with skin lesions to determine reason for referral, macroscopic and dermatoscopic features of referred lesions, diagnosis, management and histology for excised lesions. METHODS: Referral letters, clinical and dermatoscopic images and outcomes were reviewed for skin lesions in children aged 0–18 years attending a teledermoscopy clinic over a 28-month period. RESULTS: Eighty-nine children with 128 lesions accounted for 9% of all referrals to the teledermoscopy clinic. The mean age of the children was 12 years (range 2–18 years. A ‘changing mole’ was the most common reason for referral (35 children; 39%, followed by ‘possible melanoma’ (19; 21%, and congenital naevus (9; 10%. The majority of lesions were benign melanocytic naevi (112 lesions; 88%. No lesions were diagnosed as melanoma or non-melanoma skin cancer. A history of change was given for 61/112 lesions (54%. Five lesions were excised; histopathological diagnoses were two spindle cell tumours of Reed, two compound naevi and one Spitz naevus. DISCUSSION: Change in a lesion, though a common trigger for referral, is less likely to indicate malignancy in children compared with adults and, as a sole criterion, does not necessitate specialist referral. Teledermoscopy clinics offer high quality macroscopic and dermatoscopic images and can assist in providing reassurance, where appropriate.

  2. Filtering bleb activation in the early post-operative period after fistulizing surgery

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    S. Yu. Petrov

    2014-10-01

    Full Text Available The article presents a case report of a patient with a cystic bleb in the early postoperative period after trabeculectomy. Patient complained of discomfort in a recently (4 weeks operated eye. Medical regimen administered previously had been taken irregularly. Biomicroscopy revealed a high, encapsulated cystic bleb with thin walls and hyperemia. Intraocular pressure at the moment of examination was 27 mmHg. Local hypotensive therapy had been neglected by the patient. A local anti-inflammatory (tobramycin / dexamethasone fixed combination and hypotensive (brimonidine / timolol fixed combination therapy was administered. 24 hours later, when intraocular pressure decreased to 20 mmHg, a needle revision procedure was conducted for partial bleb wall destruction and subconjunctival injection of dexamethasone, fluorouracil and ranibizumab. During the next day examination the bleb was diffuse, with less hyperemia and an abundance of conjunctival microcysts in the central bleb’s zone. Intraocular pressure was 10.2 mmHg. No choroidal detachment was noted during ophthalmoscopy and OCT examination. The patient continued anti-inflammatory therapy. Another needling procedure with the same drug combination was repeated two weeks after due to an increased hyperemia. At the end of the four-week follow-up period the filtering bleb remained diffuse and the intraocular pressure was 13.2 mmHg. Dexamethasone drops were prescribed to be instilled 1‑2 times a day for a month. This case report demonstrates the method of restoring a functioning filtering bleb by the needle revision with antiinflammatory, cytostatic and anti-VEGF therapy for prolonging the hypotensive effect of a trabeculectomy in the presence of wound healing.

  3. Filtering bleb activation in the early post-operative period after fistulizing surgery

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    S. Yu. Petrov

    2014-01-01

    Full Text Available The article presents a case report of a patient with a cystic bleb in the early postoperative period after trabeculectomy. Patient complained of discomfort in a recently (4 weeks operated eye. Medical regimen administered previously had been taken irregularly. Biomicroscopy revealed a high, encapsulated cystic bleb with thin walls and hyperemia. Intraocular pressure at the moment of examination was 27 mmHg. Local hypotensive therapy had been neglected by the patient. A local anti-inflammatory (tobramycin / dexamethasone fixed combination and hypotensive (brimonidine / timolol fixed combination therapy was administered. 24 hours later, when intraocular pressure decreased to 20 mmHg, a needle revision procedure was conducted for partial bleb wall destruction and subconjunctival injection of dexamethasone, fluorouracil and ranibizumab. During the next day examination the bleb was diffuse, with less hyperemia and an abundance of conjunctival microcysts in the central bleb’s zone. Intraocular pressure was 10.2 mmHg. No choroidal detachment was noted during ophthalmoscopy and OCT examination. The patient continued anti-inflammatory therapy. Another needling procedure with the same drug combination was repeated two weeks after due to an increased hyperemia. At the end of the four-week follow-up period the filtering bleb remained diffuse and the intraocular pressure was 13.2 mmHg. Dexamethasone drops were prescribed to be instilled 1‑2 times a day for a month. This case report demonstrates the method of restoring a functioning filtering bleb by the needle revision with antiinflammatory, cytostatic and anti-VEGF therapy for prolonging the hypotensive effect of a trabeculectomy in the presence of wound healing.

  4. Lidocaine induces ROCK-dependent membrane blebbing and subsequent cell death in rabbit articular chondrocytes.

    Science.gov (United States)

    Maeda, Tsutomu; Toyoda, Futoshi; Imai, Shinji; Tanigawa, Hitoshi; Kumagai, Kousuke; Matsuura, Hiroshi; Matsusue, Yoshitaka

    2016-05-01

    Local anesthetics are administered intraarticularly for pain control in orthopedic clinics and surgeries. Although previous studies have shown that local anesthetics can be toxic to chondrocytes, the underlying cellular mechanisms remain unclear. The present study investigates acute cellular responses associated with lidocaine-induced toxicity to articular chondrocytes. Rabbit articular chondrocytes were exposed to lidocaine and their morphological changes were monitored with live cell microscopy. The viability of chondrocytes was evaluated using a fluorescence based LIVE/DEAD assay. Acute treatment of chondrocytes with lidocaine (3-30 mM) induced spherical protrusions on the cell surface (so called "membrane blebbing") in a time- and concentration-dependent manner. The concentration-response relationship for the lidocaine effect was shifted leftward by elevating extracellular pH, as expected for the non-ionized lidocaine being involved in the bleb formation. ROCK (Rho-kinase) inhibitors Y-27632 and fasudil completely prevented the lidocaine-induced membrane blebbing, suggesting that ROCK activation is required for bleb formation. Caspase-3 levels were unchanged by 10 mM lidocaine (p = 0.325) and a caspase inhibitor z-VAD-fmk did not affect the lidocaine-induced blebbing (p = 0.964). GTP-RhoA levels were significantly increased (p ROCK inhibitors or a myosin-II inhibitor blebbistatin (p ROCK-dependent membrane blebbing and thereby produces a cytotoxic effect on chondrocytes. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 34:754-762, 2016.

  5. Abdominal vascular syndromes: characteristic imaging findings

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    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)

  6. Membrane Protein Mobility and Orientation Preserved in Supported Bilayers Created Directly from Cell Plasma Membrane Blebs.

    Science.gov (United States)

    Richards, Mark J; Hsia, Chih-Yun; Singh, Rohit R; Haider, Huma; Kumpf, Julia; Kawate, Toshimitsu; Daniel, Susan

    2016-03-29

    Membrane protein interactions with lipids are crucial for their native biological behavior, yet traditional characterization methods are often carried out on purified protein in the absence of lipids. We present a simple method to transfer membrane proteins expressed in mammalian cells to an assay-friendly, cushioned, supported lipid bilayer platform using cell blebs as an intermediate. Cell blebs, expressing either GPI-linked yellow fluorescent proteins or neon-green fused transmembrane P2X2 receptors, were induced to rupture on glass surfaces using PEGylated lipid vesicles, which resulted in planar supported membranes with over 50% mobility for multipass transmembrane proteins and over 90% for GPI-linked proteins. Fluorescent proteins were tracked, and their diffusion in supported bilayers characterized, using single molecule tracking and moment scaling spectrum (MSS) analysis. Diffusion was characterized for individual proteins as either free or confined, revealing details of the local lipid membrane heterogeneity surrounding the protein. A particularly useful result of our bilayer formation process is the protein orientation in the supported planar bilayer. For both the GPI-linked and transmembrane proteins used here, an enzymatic assay revealed that protein orientation in the planar bilayer results in the extracellular domains facing toward the bulk, and that the dominant mode of bleb rupture is via the "parachute" mechanism. Mobility, orientation, and preservation of the native lipid environment of the proteins using cell blebs offers advantages over proteoliposome reconstitution or disrupted cell membrane preparations, which necessarily result in significant scrambling of protein orientation and typically immobilized membrane proteins in SLBs. The bleb-based bilayer platform presented here is an important step toward integrating membrane proteomic studies on chip, especially for future studies aimed at understanding fundamental effects of lipid interactions

  7. Generation of micronuclei during interphase by coupling between cytoplasmic membrane blebbing and nuclear budding.

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    Koh-ichi Utani

    Full Text Available Micronucleation, mediated by interphase nuclear budding, has been repeatedly suggested, but the process is still enigmatic. In the present study, we confirmed the previous observation that there are lamin B1-negative micronuclei in addition to the positive ones. A large cytoplasmic bleb was found to frequently entrap lamin B1-negative micronuclei, which were connected to the nucleus by a thin chromatin stalk. At the bottom of the stalk, the nuclear lamin B1 structure appeared broken. Chromatin extrusion through lamina breaks has been referred to as herniation or a blister of the nucleus, and has been observed after the expression of viral proteins. A cell line in which extrachromosomal double minutes and lamin B1 protein were simultaneously visualized in different colors in live cells was established. By using these cells, time-lapse microscopy revealed that cytoplasmic membrane blebbing occurred simultaneously with the extrusion of nuclear content, which generated lamin B1-negative micronuclei during interphase. Furthermore, activation of cytoplasmic membrane blebbing by the addition of fresh serum or camptothecin induced nuclear budding within 1 to 10 minutes, which suggested that blebbing might be the cause of the budding. After the induction of blebbing, the frequency of lamin-negative micronuclei increased. The budding was most frequent during S phase and more efficiently entrapped small extrachromosomal chromatin than the large chromosome arm. Based on these results, we suggest a novel mechanism in which cytoplasmic membrane dynamics pulls the chromatin out of the nucleus through the lamina break. Evidence for such a mechanism was obtained in certain cancer cell lines including human COLO 320 and HeLa. The mechanism could significantly perturb the genome and influence cancer cell phenotypes.

  8. A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma.

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    Hill, S; Rademaker, M

    2009-12-01

    Glomuvenous malformations are a subtype of venous malformations, which present in infancy or childhood. We describe a teenage girl who presented with multiple digital glomuvenous malformations from birth. In addition, she had an epidermal naevus on the upper lip, an area of congenital alopecia of the scalp, heterochromia irides and an abdominal lipoblastoma. We are unaware of any reports of the association of multiple glomuvenous malformations with the other uncommon developmental anomalies seen in our patient, and a common link eludes us.

  9. Management of the late leaking filtration blebs. A report of seven cases and a selective review of the literature.

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    Mandal A

    2001-01-01

    Full Text Available PURPOSE: To describe the outcome of various treatment modalities in the management of late bleb leaks after glaucoma filtering surgery (GFS. MATERIALS AND METHODS: Seven consecutive patients treated for late bleb leaks (Seidel′s positive between July 1990 and June 1999 were were enrolled in the study. The management strategy consisted of initial conservative therapy, and tailored surgery, if necessary. The surgical technique employed was either conjunctival-Tenon′s advancement flap, hinged scleral flap, or fistulectomy with direct suturing. The main outcome measures were bleb characteristics and postoperative intraocular pressure (IOP. The secondary outcome measure was visual acuity. RESULTS: One patient responded to conservative therapy (aqueous suppressants, bandage contact lens and six patients needed surgery. The successful surgical technique was conjunctivo-Tenon′s advancement flap in three, hinged scleral flap in two, and fistulectomy-direct suturing to the wound (combined with cataract surgery and intraocular lens implantation in one patient. The bleb leak stopped in all cases and 5 of the 6 surgical patients sustained functioning filtering blebs. Follow-up ranged from 8 to 56 months (mean = 20.4 +/- 16.2 months. Visual acuity improved to 6/12 or better in 4 cases, 6/36 in 2 cases and it remained at light perception in one case. None of the patients had any intraoperative or postoperative complications. CONCLUSIONS: Late leaking blebs after GFS can be treated successfully. The management decision and selection of surgical technique should be based on the clinical condition.

  10. Etiology and epidemiological analysis of glaucoma-filtering bleb infections in a tertiary eye care hospital in south India

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    R Ramakrishnan

    2011-01-01

    Full Text Available Purpose : To evaluate the microbial etiology and associated risk factors among patients with blebitis following trabeculectomy. Materials and Methods : A retrospective analysis of all culture-proven blebitis was performed in patients who underwent trabeculectomy between January 2004 and December 2008. A standardized form was filled out for each patient, documenting sociodemographic features and information pertaining to risk factors. Swabbing of the infected bleb surface was performed for all suspected cases and further subjected to microbiological analysis. Results : A total of 23 patients with culture-proven blebitis were treated during the study period, with a mean age of 59.2 years (59.2 ± SD: 12.8; range, 30-81 years. Duration of onset was early (≤36 months in six (26% cases and late (> 36 months in 17 (74% cases with a range between 15 and 144 months (mean, 82.91 months; SD: 41.89. All 23 blebs were located superiorly and of which, 21 (91% were microcystic avascular, 1 (4% diffuse avascular, and 1 (4% vascular flattened. The predominant risk factor identified was bleb leak (35%; 8 of 23 followed by thin bleb (22%; 5 of 23 and blepharitis (17%; 4 of 23. Bleb leaks (100% were recorded only in patients with late onset (≥ 9 years of infection (P< 0.001, while the incidence of ocular surface disease (100% occurred early (≤3 years (P< 0.001. Use of topical steroids was associated frequently with cases of thin blebs (80%; 4 of 5 (P< 0.001, while topical antibiotics showed bleb leaks (88%; 7 of 8 (P< 0.001. Coagulase-positive staphylococci were frequently recovered from blebitis with thin blebs (71%; 5 of 7 (P = 0.001, Coagulase-negative staphylococci (CoNS with bleb leak (100%; 8 of 8 (P< 0.001, Corynebacterium with blepharitis (100%; 3 of 3 (P = 0.001, and Streptococci with releasable sutures (75%; 3 of 4 (P = 0.001. Conclusion : Bleb leak is the principal risk factor responsible for late-onset blebitis, while early-onset blebitis could

  11. Force spectroscopy measurements show that cortical neurons exposed to excitotoxic agonists stiffen before showing evidence of bleb damage.

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    Shan Zou

    Full Text Available In ischemic and traumatic brain injury, hyperactivated glutamate (N-methyl-D-aspartic acid, NMDA and sodium (Nav channels trigger excitotoxic neuron death. Na(+, Ca(++ and H2O influx into affected neurons elicits swelling (increased cell volume and pathological blebbing (disassociation of the plasma membrane's bilayer from its spectrin-actomyosin matrix. Though usually conflated in injured tissue, cell swelling and blebbing are distinct processes. Around an injury core, salvageable neurons could be mildly swollen without yet having suffered the bleb-type membrane damage that, by rendering channels leaky and pumps dysfunctional, exacerbates the excitotoxic positive feedback spiral. Recognizing when neuronal inflation signifies non-lethal osmotic swelling versus blebbing should further efforts to salvage injury-penumbra neurons. To assess whether the mechanical properties of osmotically-swollen versus excitotoxically-blebbing neurons might be cytomechanically distinguishable, we measured cortical neuron elasticity (gauged via atomic force microscopy (AFM-based force spectroscopy upon brief exposure to hypotonicity or to excitotoxic agonists (glutamate and Nav channel activators, NMDA and veratridine. Though unperturbed by solution exchange per se, elasticity increased abruptly with hypotonicity, with NMDA and with veratridine. Neurons then invariably softened towards or below the pre-treatment level, sometimes starting before the washout. The initial channel-mediated stiffening bespeaks an abrupt elevation of hydrostatic pressure linked to NMDA or Nav channel-mediated ion/H2O fluxes, together with increased [Ca(++]int-mediated submembrane actomyosin contractility. The subsequent softening to below-control levels is consistent with the onset of a lethal level of bleb damage. These findings indicate that dissection/identification of molecular events during the excitotoxic transition from stiff/swollen to soft/blebbing is warranted and should be

  12. Evaluation of Filtering Bleb Function after Trabeculectomy with Mitomycin C Using Biomicroscopy, Anterior Segment Optical Coherence Tomography and In Vivo Confocal Microscopy

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    Suzan Güven Yılmaz

    2015-08-01

    Full Text Available Objectives: To analyze and assess compatibility of trabeculectomy filtering bleb characteristics and appearances using biomicroscopy, anterior segment optical coherence tomography (AS-OCT and in vivo confocal microscopy (IVCM. Materials and Methods: Twenty-eight eyes of 28 patients who underwent glaucoma filtering surgery with mitomycin C in our clinic between 2009 and 2013 were evaluated. Morphological appearances of the blebs on slit-lamp biomicroscopy were defined according to the Moorfields bleb classification system. For the internal tissue assessment of blebs, AS-OCT and IVCM were performed. Bleb biometric parameters such as length, height and bleb wall thickness were assessed by AS-OCT; conjunctival epithelial-stromal cyst, structural network of conjunctival stroma and vascularisation were examined with IVCM. The relation between biomicroscopic morphological staging and bleb characteristics detected on AS-OCT and IVCM were assessed. Results: The mean age of the 28 patients (16 male, 12 female was 57.2±15.9 (19 to 79 years. The mean time elapsed between surgery and examination was 29.2±19.2 (6 to 68 months. According to biomicroscopic appearance, 17 (60.7% blebs were functional (13 diffuse, 4 microcystic, whereas 11 (39.3% blebs were non-functional (9 flat, 2 encapsulated. In the comparison of non-functional and functional blebs, functional blebs were found to be superior in terms of biometric parameters on AS-OCT assessment (p<0.05. Higher number of epithelial and stromal cysts and less vascularisation were detected by IVCM in functional blebs when compared with non-functional blebs (p<0.05. Conclusion: Biomicroscopic appearances and characteristics on AS-OCT and IVCM of filtration blebs are consistent with each other. Besides biomicroscopic examination, which is an easy and practical method for determining bleb morphology, cross-sectional images obtained by AS-OCT and IVCM provide objective data regarding internal structure and

  13. Double trouble: Bilateral cerebral involvement in Sturge-Weber syndrome

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    Narosha Adroos

    2015-03-01

    Full Text Available Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis or meningofacial angiomatosis, is characterised in its classical form by a congenital, usually unilateral, ‘portwine stain’ (capillary naevus on the face, convulsions, typical intracranial calcification and some degree of mental retardation and hemiparesis. The clinical correlation of intractable seizures with the presence of bilateral intracranial disease has management and prognostic implications, thus making the presence of bilateral disease an important factor to all those involved in the management of the child with Sturge-Weber syndrome.

  14. Comparison of Subconjunctival Mitomycin C and 5-Fluorouracil Injection for Needle Revision of Early Failed Trabeculectomy Blebs

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    Wei Liu

    2016-01-01

    Full Text Available Background. To compare the efficacy of needle revision with 5-fluorouracil (5-FU and mitomycin C (MMC on dysfunctional filtration blebs shortly after trabeculectomy. Methods. It is a prospective randomized study comparing needle revision augmented with MMC or 5-FU for failed trabeculectomy blebs. Results. To date 71 patients (75 eyes have been enrolled, 40 eyes in the MMC group and 35 in the 5-FU group. 68 patients (72 eyes have completed 12-month follow-up, 38 eyes in the MMC group and 34 in the 5-FU group. The mean IOP before and that after needle revision in the MMC group were 26.5±4.3 mmHg and 11.3±3.4 mmHg, respectively (P0.05. Conclusions. Needle revision and subconjunctival MMC injection were more effective than needling and subconjunctival 5-FU injection for early dysfunctional filtration blebs after trabeculectomies.

  15. Analysis of a model microswimmer with applications to blebbing cells and mini-robots

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    Wang, Qixuan

    2016-01-01

    Recent research has shown that motile cells can adapt their mode of propulsion depending on the environment in which they find themselves. One mode is swimming by blebbing or other shape changes, and in this paper we analyze a class of models for movement of cells by blebbing and of nano- robots in a viscous fluid at low Reynolds number. At the level of individuals, the shape changes comprise volume exchanges between connected spheres that can control their separation, which are simple enough that significant analytical results can be obtained. The goal is to understand how the efficiency of move- ment depends on the amplitude and period of the volume exchanges when the spheres approach closely during a cycle. Previous analyses were predicated on wide separation, and we show that the speed in- creases significantly as the separation decreases due to the strong hydrodynamic interactions between spheres in close proximity. The scallop theorem asserts that at least two degrees of freedom are needed to produce ne...

  16. Blood flow drives lumen formation by inverse membrane blebbing during angiogenesis in vivo.

    Science.gov (United States)

    Gebala, Véronique; Collins, Russell; Geudens, Ilse; Phng, Li-Kun; Gerhardt, Holger

    2016-04-01

    How vascular tubes build, maintain and adapt continuously perfused lumens to meet local metabolic needs remains poorly understood. Recent studies showed that blood flow itself plays a critical role in the remodelling of vascular networks, and suggested it is also required for the lumenization of new vascular connections. However, it is still unknown how haemodynamic forces contribute to the formation of new vascular lumens during blood vessel morphogenesis. Here we report that blood flow drives lumen expansion during sprouting angiogenesis in vivo by inducing spherical deformations of the apical membrane of endothelial cells, in a process that we have termed inverse blebbing. We show that endothelial cells react to these membrane intrusions by local and transient recruitment and contraction of actomyosin, and that this mechanism is required for single, unidirectional lumen expansion in angiogenic sprouts. Our work identifies inverse membrane blebbing as a cellular response to high external pressure. We show that in the case of blood vessels such membrane dynamics can drive local cell shape changes required for global tissue morphogenesis, shedding light on a pressure-driven mechanism of lumen formation in vertebrates.

  17. Cellular regulation of extension and retraction of pseudopod-like blebs produced by nanosecond pulsed electric field (nsPEF).

    Science.gov (United States)

    Rassokhin, Mikhail A; Pakhomov, Andrei G

    2014-07-01

    Recently we described a new phenomenon of anodotropic pseudopod-like blebbing in U937 cells exposed to nanosecond pulsed electric field (nsPEF). In Ca(2+)-free buffer such exposure initiates formation of pseudopod-like blebs (PLBs), protrusive cylindrical cell extensions that are distinct from apoptotic and necrotic blebs. PLBs nucleate predominantly on anode-facing cell pole and extend toward anode during nsPEF exposure. Bleb extension depends on actin polymerization and availability of actin monomers. Inhibition of intracellular Ca(2+), cell contractility, and RhoA produced no effect on PLB initiation. Meanwhile, inhibition of WASP by wiskostatin causes dose-dependent suppression of PLB growth. Soon after the end of nsPEF exposure PLBs lose directionality of growth and then retract. Microtubule toxins nocodazole and paclitaxel did not show immediate effect on PLBs; however, nocodazole increased mobility of intracellular components during PLB extension and retraction. Retraction of PLBs is produced by myosin activation and the corresponding increase in PLB cortex contractility. Inhibition of myosin by blebbistatin reduces retraction while inhibition of RhoA-ROCK pathway by Y-27632 completely prevents retraction. Contraction of PLBs can produce cell translocation resembling active cell movement. Overall, the formation, properties, and life cycle of PLBs share common features with protrusions associated with ameboid cell migration. PLB life cycle may be controlled through activation of WASP by its upstream effectors such as Cdc42 and PIP2, and main ROCK activator-RhoA. Parallels between pseudopod-like blebbing and motility blebbing may provide new insights into their underlying mechanisms.

  18. Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells.

    Science.gov (United States)

    Bercht Pfleghaar, Katrin; Taimen, Pekka; Butin-Israeli, Veronika; Shimi, Takeshi; Langer-Freitag, Sabine; Markaki, Yolanda; Goldman, Anne E; Wehnert, Manfred; Goldman, Robert D

    2015-01-01

    More than 20 mutations in the gene encoding A-type lamins (LMNA) cause progeria, a rare premature aging disorder. The major pathognomonic hallmarks of progeria cells are seen as nuclear deformations or blebs that are related to the redistribution of A- and B-type lamins within the nuclear lamina. However, the functional significance of these progeria-associated blebs remains unknown. We have carried out an analysis of the structural and functional consequences of progeria-associated nuclear blebs in dermal fibroblasts from a progeria patient carrying a rare point mutation p.S143F (C428T) in lamin A/C. These blebs form microdomains that are devoid of major structural components of the nuclear envelope (NE)/lamina including B-type lamins and nuclear pore complexes (NPCs) and are enriched in A-type lamins. Using laser capture microdissection and comparative genomic hybridization (CGH) analyses, we show that, while these domains are devoid of centromeric heterochromatin and gene-poor regions of chromosomes, they are enriched in gene-rich chromosomal regions. The active form of RNA polymerase II is also greatly enriched in blebs as well as nascent RNA but the nuclear co-activator SKIP is significantly reduced in blebs compared to other transcription factors. Our results suggest that the p.S143F progeria mutation has a severe impact not only on the structure of the lamina but also on the organization of interphase chromatin domains and transcription. These structural defects are likely to contribute to gene expression changes reported in progeria and other types of laminopathies.

  19. Postoperative Changes in Aqueous Monocyte Chemotactic Protein-1 Levels and Bleb Morphology after Trabeculectomy vs. Ex-PRESS Shunt Surgery.

    Directory of Open Access Journals (Sweden)

    Kohei Shobayashi

    Full Text Available To evaluate the postoperative changes in blebs and levels of aqueous monocyte chemotactic protein-1 (MCP-1 after trabeculectomy vs. Ex-PRESS tube shunt surgery.Rabbits were subjected to trabeculectomy or Ex-PRESS tube shunt surgery and observed for up to 3 months. Intraocular pressure (IOP was measured using a rebound tonometer. The MCP-1 level was measured by enzyme-linked immunosorbent assay (ELISA. Bleb morphology was evaluated using photos and anterior-segment optical coherence tomography (OCT.There were no differences in bleb appearance or IOP at any time between the groups. Bleb wall density in the anterior-segment OCT image was significantly lower 1 week after surgery in the Ex-PRESS group than the trabeculectomy group. The MCP-1 level in control eyes was 304.1 ± 45.2 pg/mL. In the trabeculectomy group, the mean aqueous MCP-1 level was 1444.9, 1914.3, 1899.8, 516.4, 398.3, 427.3, 609.5, 1612.7, 386.2, and 167.9 pg/mL at 3, 6, and 12 h, and 1, 2, 5, 7, 14, 30, and 90 days after surgery, respectively. In the Ex-PRESS group, the corresponding values were 1744.0, 1372.0, 932.5, 711.7, 396.1, 487.3, 799.5, 1327.9, 293.6, and 184.0 pg/mL. There were no significant differences in the aqueous MCP-1 level between the groups at any time point.The postoperative changes were similar in the Ex-PRESS and trabeculectomy groups, except for bleb wall density in the anterior-segment OCT image. The postoperative aqueous MCP-1 level had bimodal peaks in both groups.

  20. Clinical, dermoscopic and histological features of a combined tumor composed of a melanoma in situ, a basal cell carcinoma and an intradermal naevus

    Directory of Open Access Journals (Sweden)

    Massimiliano Scalvenzi

    2012-12-01

    Full Text Available The combined tumors are neoplasms consisting of 2 or more distinct cell population that are intimately admixed. The presence of more than one neoplasm in the same lesion comprising melanocytes and keratinocytes are rare but well documented. We report a case of a 65-year-old man with a melanoma in situ, a basal cell carcinoma and an intradermal naevus in collision that clinically appeared as a single lesion. Clinical, dermoscopic and histological features are discussed.

  1. Uptake of /sup 99m/Tc labelled (Fab')/sub 2/ fragments of monoclonal antibody 225. 28S by a benign ocular naevus

    Energy Technology Data Exchange (ETDEWEB)

    Bomanji, J.; Granowska, M.; Britton, K.E.; Hungerford, J.L.

    1988-06-01

    Malignant melanoma is one of the most common primary intraocular neoplasms. Recently, /sup 99m/Tc radiolabelled (Fab')/sub 2/ fragments of monoclonal antibody 225.28S raised against cutaneous melanomas have been used for imaging uveal melanomas. We report here a case where uptake of radiolabelled antibody was observed in a choroidal melanoma of the right eye and a benign choroidal naevus of the left.

  2. Abdominal vascular syndromes: characteristic imaging findings*

    Science.gov (United States)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    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)-or 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. PMID:27777480

  3. Klippel-Trenaunay syndrome: Unusual magnetic resonance features

    Energy Technology Data Exchange (ETDEWEB)

    Srivastava, D.N.; Gulati, M.S.; Thulkar, S.; Berry, M. [All India Institute of Medical Sciences, New Delhi, (India). Department of Radiodiagnosis

    1998-02-01

    Klippel-Trenaunay syndrome (KTS) is a congenital vascular abnormality consisting of a cutaneous naevus, varicose veins and bone and soft-tissue hypertrophy affecting one or more limbs. A case is presented here with some unusual associated findings seen on MR that, to the best of the authors` knowledge, has not been reported in the literature. Although colour Doppler in addition to venography is frequently used in demonstration of the KT vein, MRI may well have an important role in complete assessment. Copyright (1998) Blackwell Science Pty Ltd 5 refs., 3 figs.

  4. Conservative treatment for late-onset bleb leaks after trabeculectomy with mitomycin C in patients with ocular surface disease

    Directory of Open Access Journals (Sweden)

    Sagara H

    2012-08-01

    Full Text Available Hideto Sagara,1,2 Tomohiro Iida,2,3 Kimimori Saito,4 Hiroki Noji,2 Masashi Ogasawara,2 Hiroshi Oyamada21The Marui Eye Clinic, Fukushima, 2Department of Ophthalmology, Fukushima Medical University School of Medicine, Fukushima, 3Tokyo Women's Medical University, Tokyo, 4Matuki Eye Clinic, Fukushima, JapanBackground: Sodium hyaluronate and autologous serum eye drops are used to treat ocular surface disease (OSD and are reported to prevent and treat late-onset bleb leaks following trabeculectomy with mitomycin C. In this study, we evaluated the efficacy of a combination of sodium hyaluronate and autologous serum eye drops and treatment for obstructive meibomian gland dysfunction as a therapy for late-onset bleb leaks after trabeculectomy with mitomycin C.Methods: This was a retrospective, interventional, nonsimultaneous study of 12 subjects (12 eyes of mean age of 64.3 ± 18.3 years with OSD and apparent late-onset bleb leaks following trabeculectomy with mitomycin C between 1998 and 2008. We compared patients diagnosed with leakages before July 2005, who had been treated with separate eye drop solutions containing 0.1% sodium hyaluronate, 50% autologous serum, and 0.3% ofloxacin (sodium hyaluronate and autologous serum group, n = 7, with patients diagnosed from August 2005 to December 2008, who were treated with a combination of eye drops (0.1% sodium hyaluronate, 50% autologous serum, and 0.08% levofloxacin hydrate and eyelid massage and warm compresses for obstructive meibomian gland dysfunction (combination eye drop group, n = 5.Results: Leakage was resolved in one patient (14.3% in the separately treated sodium hyaluronate and autologous serum eye drop group and in five patients (100% in the combination eye drop group (P = 0.015. The period after resolution of leakage with conservative treatment was 23 months in the one eye in the sodium hyaluronate and autologous serum group and 36–61 (mean 52.4 ± 10.1 months in the five eyes in the

  5. Modeling the Excess Cell Surface Stored in a Complex Morphology of Bleb-Like Protrusions

    Science.gov (United States)

    Wessler, Timothy; Yang, Xiaofeng; Chen, Alex; Roach, Nathan; Elston, Timothy C.; Wang, Qi; Jacobson, Ken; Forest, M. Gregory

    2016-01-01

    Cells transition from spread to rounded morphologies in diverse physiological contexts including mitosis and mesenchymal-to-amoeboid transitions. When these drastic shape changes occur rapidly, cell volume and surface area are approximately conserved. Consequently, the rounded cells are suddenly presented with a several-fold excess of cell surface whose area far exceeds that of a smooth sphere enclosing the cell volume. This excess is stored in a population of bleb-like protrusions (BLiPs), whose size distribution is shown by electron micrographs to be skewed. We introduce three complementary models of rounded cell morphologies with a prescribed excess surface area. A 2D Hamiltonian model provides a mechanistic description of how discrete attachment points between the cell surface and cortex together with surface bending energy can generate a morphology that satisfies a prescribed excess area and BLiP number density. A 3D random seed-and-growth model simulates efficient packing of BLiPs over a primary rounded shape, demonstrating a pathway for skewed BLiP size distributions that recapitulate 3D morphologies. Finally, a phase field model (2D and 3D) posits energy-based constitutive laws for the cell membrane, nematic F-actin cortex, interior cytosol, and external aqueous medium. The cell surface is equipped with a spontaneous curvature function, a proxy for the cell surface-cortex couple, that is a priori unknown, which the model “learns” from the thin section transmission electron micrograph image (2D) or the “seed and growth” model image (3D). Converged phase field simulations predict self-consistent amplitudes and spatial localization of pressure and stress throughout the cell for any posited stationary morphology target and cell compartment constitutive properties. The models form a general framework for future studies of cell morphological dynamics in a variety of biological contexts. PMID:27015526

  6. Modeling the Excess Cell Surface Stored in a Complex Morphology of Bleb-Like Protrusions.

    Directory of Open Access Journals (Sweden)

    Maryna Kapustina

    2016-03-01

    Full Text Available Cells transition from spread to rounded morphologies in diverse physiological contexts including mitosis and mesenchymal-to-amoeboid transitions. When these drastic shape changes occur rapidly, cell volume and surface area are approximately conserved. Consequently, the rounded cells are suddenly presented with a several-fold excess of cell surface whose area far exceeds that of a smooth sphere enclosing the cell volume. This excess is stored in a population of bleb-like protrusions (BLiPs, whose size distribution is shown by electron micrographs to be skewed. We introduce three complementary models of rounded cell morphologies with a prescribed excess surface area. A 2D Hamiltonian model provides a mechanistic description of how discrete attachment points between the cell surface and cortex together with surface bending energy can generate a morphology that satisfies a prescribed excess area and BLiP number density. A 3D random seed-and-growth model simulates efficient packing of BLiPs over a primary rounded shape, demonstrating a pathway for skewed BLiP size distributions that recapitulate 3D morphologies. Finally, a phase field model (2D and 3D posits energy-based constitutive laws for the cell membrane, nematic F-actin cortex, interior cytosol, and external aqueous medium. The cell surface is equipped with a spontaneous curvature function, a proxy for the cell surface-cortex couple, that is a priori unknown, which the model "learns" from the thin section transmission electron micrograph image (2D or the "seed and growth" model image (3D. Converged phase field simulations predict self-consistent amplitudes and spatial localization of pressure and stress throughout the cell for any posited stationary morphology target and cell compartment constitutive properties. The models form a general framework for future studies of cell morphological dynamics in a variety of biological contexts.

  7. RAMSAY HUNT SYNDROME A CASE REPORT AND REVIEW OF LITERATURE

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    Balasubramanian Thiagarajan

    2013-01-01

    Full Text Available This is a case report of a rather rare disorder i.e. Ramsay Hunt syndrome. This is caused by Varicella zoster infections involving geniculate ganglion of facial nerve. This syndrome is manifested by the presence of blebs in the external auditory canal, ear ache, and lower motor neurone type of facial paralysis. This patient had excellent recovery following administration of oral steroids and acyclovir.

  8. Blunt needle revision with viscoelastic materials via the anterior chamber for early failed filtering blebs after trabeculectomy

    Directory of Open Access Journals (Sweden)

    Yamagami H

    2012-06-01

    Full Text Available Nozomi Kinoshita, Ayumi Ota, Fumihiko Toyoda, Hiroko Yamagami, Akihiro KakehashiDepartment of Ophthalmology, Saitama Medical Center, Jichi Medical University, Saitama, JapanPurpose: To report a new technique of blunt needle revision with viscoelastic materials via the anterior chamber for the treatment of early failed filtering blebs and elevated intraocular pressure after trabeculectomy, in which digital ocular massage and laser suture lysis have been ineffective.Methods: A 27-gauge blunt needle attached to a syringe containing viscoelastic material was inserted into the anterior chamber from the inferior paracentesis. The needle tip was inserted into the subscleral flap space from the filtering fistula at the anterior chamber side, and the scleral flap was lifted bluntly. The needle tip was then inserted into the subconjunctival space where the viscoelastic agent was injected and the adhesion between the sclera and conjunctiva was separated bluntly. Blunt needle revision via the anterior chamber was performed 14 times in six eyes of six patients at Saitama Medical Center, Jichi Medical University from January 2007 to May 2009. All procedures were performed within 1 month after trabeculectomy.Results: The intraocular pressure remained 21 mmHg or lower for more than 6 months in three of six eyes. Slight bleeding from the iris occurred in one of the 14 procedures, and hypotony (intraocular pressure below 5 mmHg occurred in one of the 14 procedures. No serious complications developed.Conclusion: Blunt needle revision via the anterior chamber for early failed filtering blebs is a new, simple, and safe procedure.Keywords: glaucoma, trabeculectomy, filtering bleb, needle revision, blunt needle

  9. Imaging of filtering blebs after implantation of the Ex-PRESS shunt with the use of the Visante optical coherence tomography

    Institute of Scientific and Technical Information of China (English)

    Aristeidis; Konstantinidis; Georgios; D; Panos; Magdalini; Triantafylla; Georgios; Labiris; Efthimia; Tsaragli; Zisis; Gatzioufas; Vassilios; Kozobolis

    2015-01-01

    AIM: To analyze the features of the filtering blebs following implantation of the Ex-PRESS glaucoma device(model P-50) with the aid of the Visante anterior segment optical coherence tomography(AS-OCT)METHODS: Five patients with open angle glaucomas were included in the study. They all underwent implantation of the Ex-PRESS device under a scleral flap. The surgical procedure was augmented with the use of mitomycin C subconjunctivally. The filtering blebs were analyzed with the Visante AS-OCT with the scans taken along the axis of the implantation of the glaucoma device.RESULTS: All filtering blebs were graded as diffuse functioning. The morphological characteristics of the blebs were similar to those of the trabeculectomy.However the use of the Ex-PRESS implant tend to form a characteristic episcleral lake at the site of the plate of the implant. CONCLUSION: The use of the Ex-PRESS implant produces filtering blebs similar to those of the trabeculectomy with the formation of a characteristic episcleral lake at the site of the plate of the implant.

  10. Genetic disruption of calpain correlates with loss of membrane blebbing and differential expression of RhoGDI-1, cofilin and tropomyosin

    DEFF Research Database (Denmark)

    Larsen, Anna K; Lametsch, René; Elce, John S;

    2008-01-01

    Dynamic regulation of the actin cytoskeleton is important for cell motility, spreading and the formation of membrane surface extensions such as lamellipodia, ruffles and blebs. The ubiquitous calpains contribute to integrin-mediated cytoskeletal remodelling during cell migration and spreading......, by cleavage of focal adhesion components and signalling molecules. In the present study, the live-cell morphology of calpain-knockout and wild-type cells was examined by time-lapse fluorescence microscopy, and a role of calpain in mediating the formation of sporadic membrane blebs was established. Membrane...... blebbing was significantly reduced in calpain-knockout cells, and genetic rescue fully restored the wild-type phenotype in knockout cells. Proteomic comparison of wild-type and knockout cells identified decreased levels of RhoGDI-1 (Rho GDP-dissociation inhibitor) and cofilin 1, and increased levels...

  11. The role of "blebbing" in overcoming the hydrophobic barrier during biooxidation of elemental sulfur by Thiobacillus thiooxidans

    Science.gov (United States)

    Knickerbocker, C.; Nordstrom, D.K.; Southam, G.

    2000-01-01

    Brimstone Basin, in southeastern Yellowstone National Park, Wyoming is an ancient hydrothermal area containing solfataric alteration. Drainage waters flowing from Brimstone Basin had pH values as low as 1.23 and contained up to 1.7×106 MPN/ml acidophilic sulfur-oxidizing bacteria. Thiobacillus thiooxidans was the dominant sulfur-oxidizing bacterium recovered from an enrichment culture and was used in a structural examination of bacterial sulfur oxidation. Growth in these sulfur cultures occurred in two phases with cells in association with the macroscopic sulfur grains and in suspension above these grains. Colonization of sulfur grains by individual cells and microcolonies was facilitated by organic material that appeared to be responsible for bacterial adhesion. Transmission electron microscopy of negatively stained (2% [wt./vol.] uranyl acetate), sulfur-grown T. thiooxidans revealed extensive membrane blebbing (sloughing of outer membrane vesicles) and the presence of approximately 100 nm sized sulfur particles adsorbed to membrane material surrounding individual bacteria. Sulfite-grown bacteria did not possess membrane blebs. The amphipathic nature of these outer membrane vesicles appear to be responsible for overcoming the hydrophobic barrier necessary for the growth of T. thiooxidans on elemental sulfur.

  12. Neurokinin 1 receptor mediates membrane blebbing and sheer stress-induced microparticle formation in HEK293 cells.

    Directory of Open Access Journals (Sweden)

    Panpan Chen

    Full Text Available Cell-derived microparticles participate in intercellular communication similar to the classical messenger systems of small and macro-molecules that bind to specialized membrane receptors. Microparticles have been implicated in the regulation of a variety of complex physiopathologic processes, such as thrombosis, the control of innate and adaptive immunity, and cancer. The neurokinin 1 receptor (NK1R is a Gq-coupled receptor present on the membrane of a variety of tissues, including neurons in the central and peripheral nervous system, immune cells, endocrine and exocrine glands, and smooth muscle. The endogenous agonist of NK1R is the undecapeptide substance P (SP. We have previously described intracellular signaling mechanisms that regulate NK1R-mediated rapid cell shape changes in HEK293 cells and U373MG cells. In the present study, we show that the activation of NK1R in HEK293 cells, but not in U373MG cells, leads to formation of sheer-stress induced microparticles that stain positive with the membrane-selective fluorescent dye FM 2-10. SP-induced microparticle formation is independent of elevated intracellular calcium concentrations and activation of NK1R present on HEK293-derived microparticles triggers detectable calcium increase in SP-induced microparticles. The ROCK inhibitor Y27632 and the dynamin inhibitor dynasore inhibited membrane blebbing and microparticle formation in HEK293 cells, strongly suggesting that microparticle formation in this cell type is dependent on membrane blebbing.

  13. The nucleotide receptor P2X7 mediates actin reorganization and membrane blebbing in RAW 264.7 macrophages via p38 MAP kinase and Rho.

    Science.gov (United States)

    Pfeiffer, Zachary A; Aga, Mini; Prabhu, Usha; Watters, Jyoti J; Hall, David J; Bertics, Paul J

    2004-06-01

    Extracellular nucleotides regulate macrophage function via P2X nucleotide receptors that form ligand-gated ion channels. In particular, P2X7 activation is characterized by pore formation, membrane blebbing, and cytokine release. P2X7 is also linked to mitogen-activated protein kinases (MAPK) and Rho-dependent pathways, which are known to affect cytoskeletal structure in other systems. As cytoskeletal function is critical for macrophage behavior, we have tested the importance of these pathways in actin filament reorganization during P2X7 stimulation in RAW 264.7 macrophages. We observed that the P2X7 agonists adenosine 5'-triphosphate (ATP) and 3'-O-(4-benzoylbenzoyl) ATP (BzATP) stimulated actin reorganization and concomitant membrane blebbing within 5 min. Disruption of actin filaments with cytochalasin D attenuated membrane blebbing but not P2X7-dependent pore formation or extracellular-regulated kinase (ERK)1/ERK2 and p38 activation, suggesting that these latter processes do not require intact actin filaments. However, we provide evidence that p38 MAPK and Rho activation but not ERK1/ERK2 activation is important for P2X7-mediated actin reorganization and membrane blebbing. First, activation of p38 and Rho was detected within 5 min of BzATP treatment, which is coincident with membrane blebbing. Second, the p38 inhibitors SB202190 and SB203580 reduced nucleotide-induced blebbing and actin reorganization, whereas the MAPK kinase-1/2 inhibitor U0126, which blocks ERK1/ERK2 activation, had no discernable effect. Third, the Rho-selective inhibitor C3 exoenzyme and the Rho effector kinase, Rho-associated coiled-coil kinase, inhibitor Y-27632, markedly attenuated BzATP-stimulated actin reorganization and membrane blebbing. These data support a model wherein p38- and Rho-dependent pathways are critical for P2X7-dependent actin reorganization and membrane blebbing, thereby facilitating P2X7 involvement in macrophage inflammatory responses.

  14. Myotonic dystrophy protein kinase (DMPK) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells

    Science.gov (United States)

    Jin, S.; Shimizu, M.; Balasubramanyam, A.; Epstein, H. F.

    2000-01-01

    DMPK, the product of the DM locus, is a member of the same family of serine-threonine protein kinases as the Rho-associated enzymes. In DM, membrane inclusions accumulate in lens fiber cells producing cataracts. Overexpression of DMPK in cultured lens epithelial cells led to apoptotic-like blebbing of the plasma membrane and reorganization of the actin cytoskeleton. Enzymatically active DMPK was necessary for both effects; inactive mutant DMPK protein did not produce either effect. Active RhoA but not constitutive GDP-state mutant protein produced similar effects as DMPK. The similar actions of DMPK and RhoA suggest that they may function in the same regulatory network. The observed effects of DMPK may be relevant to the removal of membrane organelles during normal lens differentiation and the retention of intracellular membranes in DM lenses. Copyright 2000 Wiley-Liss, Inc.

  15. Giant Congenital Melanocytic Naevus with Proliferative Nodules Mimicking Congenital Malignant Melanoma: A Case Report and Review of the Literature of Congenital Melanoma

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    Massimiliano Scalvenzi

    2013-01-01

    Full Text Available Congenital malignant melanoma (CMM is a rare condition that is defined as malignant melanoma recognized at birth. CMM may develop in utero in one of three ways: (1 transmission by metastasis through the placenta from a mother with melanoma; (2 primary melanoma arising within a giant congenital melanocytic naevus (GCMN; (3 primary de novo cutaneous CMM arising in utero. CMM can be confused clinically and histologically with benign proliferative melanocytic lesions such as giant congenital nevi. We describe the case of a patient presenting a GCMN with proliferative nodules, clinically and dermoscopically resembling a CMM, demonstrating the importance of caution in making a diagnosis of MM and highlighting the possibility that benign lesions as GCMN can mimic a malignant melanoma in this age group.

  16. Substance P induces rapid and transient membrane blebbing in U373MG cells in a p21-activated kinase-dependent manner.

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    John Meshki

    Full Text Available U373MG astrocytoma cells endogenously express the full-length neurokinin 1 receptor (NK1R. Substance P (SP, the natural ligand for NK1R, triggers rapid and transient membrane blebbing and we report that these morphological changes have different dynamics and intracellular signaling as compared to the changes that we have previously described in HEK293-NK1R cells. In both cell lines, the SP-induced morphological changes are Gq-independent, and they require the Rho, Rho-associated coiled-coil kinase (ROCK signaling pathway. Using confocal microscopy we have demonstrated that tubulin is phosphorylated subsequent to cell stimulation with SP and that tubulin accumulates inside the blebs. Colchicine, a tubulin polymerization inhibitor, blocked SP-induced blebbing in U373MG but not in HEK293-NK1R cells. Although p21-activated kinase (PAK is expressed in both cell lines, SP induced rapid phosphorylation of PAK in U373MG, but failed to phosphorylate PAK in HEK293-NK1R cells. The cell-permeable Rho inhibitor C3 transferase inhibited SP-induced PAK phosphorylation, but the ROCK inhibitor Y27632 had no effect on PAK phosphorylation, suggesting that Rho activates PAK in a ROCK-independent manner. Our study demonstrates that SP triggers rapid changes in cell morphology mediated by distinct intracellular signaling mechanisms in U373MG versus HEK293-NK1R cells.

  17. Eccrine angiomatous naevus revisited

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    Sumit Sen

    2012-01-01

    Full Text Available Hamartomatous, circumscribed swellings of the extremities make an interesting study. Presentations are manifold and the naevi are not always present from birth. Excessive growth of hairs leads to remarkable appearance of such swellings. A young woman presented to the dermatology department, complaining of tenderness over 4 th finger of her left hand. The defect was present for the last couple of years and was typified by visible hyperhidrosis on gentle tapping. Counseling of the affected lady made her agree for a skin biopsy. The histopathology revealed it to be of the nature of eccrine angiomatous hamartoma. Blood vessels were scarce. Eccrine ducts were plentiful without other associated anomalies. The deformity was removed by simple excision with good result.

  18. Ressecção de bolsa hiperfuncionante para tratamento de hipotonia ocular crônica: relato de casos Resection of overfiltration bleb for the treatment of chronic ocular hypotony: case reports

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    Sebastião Cronemberger

    2004-08-01

    Full Text Available Relatar os resultados obtidos com a ressecção de bolsa hiperfuncionante pós-trabeculectomia (TREC com mitomicina C (MMC para o tratamento da hipotonia ocular crônica. Cinco pacientes portadores de hipotonia ocular crônica causada por hiperfunção de bolsa fistulante pós- trabeculectomia com mitomicina foram tratados pela ressecção da bolsa. O diagnóstico de hiperfunção da bolsa foi feito com base em critérios estabelecidos pelos autores. A hipotonia ocular foi revertida nos cinco pacientes, sem medicação num seguimento mínimo de cinco e máximo de 26 meses (média de 14,0 ± 7,9 meses. A ressecção da bolsa foi procedimento eficaz para reverter a hipotonia ocular crônica causada pela hiperfunção da mesma pós-trabeculectomia com mitomicina.To present the results of bleb resection for the treatment of overfiltering bleb after trabeculectomy with mitomycin C (MMC associated with chronic ocular hypotony. Five patients with chronic ocular hypotony caused by overfiltering bleb underwent bleb resection. The authors established the criteria for the diagnosis of overfiltering bleb. Ocular hypotony was reversed in all patients without medication. The mean follow-up was 14.0 ± 7.9 months. Bleb resection is a good approach for the treatment of chronic ocular hypotony secondary to overfiltering bleb.

  19. Use of Comfeel Transparent Dressing in Laser R Ionizing Treating Pigmented Naevus%康惠尔透明贴膜在激光R电离治疗黑痣中的应用

    Institute of Scientific and Technical Information of China (English)

    刘海英; 丁维瑜; 袁红英

    2012-01-01

    Objective: discuss the effect of comfeel transparent dressing in treating wound surface caused by laser R ionizing treating pigmented naevus. Method: select 165 patients with wound surface caused by laser R ionizing treating pigmented naevus, and then treat with comfeel transparent dressing. Observe wound healing time, infection rate, scarred and unscarred faces, and patients' satisfaction. Result: the wound surface after laser R ionizing treating pigmented naevus is healing by using comfeel transparent dressing, and the time is shorted 5±1.25 days, which is shorter 13±1.70 days than the healing time without using comfeel transparent dressing. And no patients are infected. Patients' satisfaction is 100%. Conclusion: comfeel transparent dressing is effective to wound healing caused by laser R ionizing treating pigmented naevus; it prevents postoperative complications, improves patients' satisfaction. It is worth of promoting.%目的:探讨康惠尔透明贴膜在促进激光R电离治疗黑痣所致创面愈合中的应用.方法:选择165例面部黑痣患者行激光R电离治疗后的创面,采用康惠尔透明贴膜对创面进行换药治疗.观察创面的愈合时间、感染的发生率、有无疤痕形成及病人的满意度.结果:在激光R电离治疗黑痣后的创面,使用康惠尔透明贴膜换药后,愈合时间缩短为5±1.25天,较前未使用该贴膜换药的患者创面愈合时间缩短了13±1.70天,且在使用过程中无1例有局部感染、过敏、疤痕的形成,患者满意率100%.结论:康惠尔透明贴膜能有效促进激光R电离治疗黑痣创面的愈合,避免了术后并发症,提高了患者满意度,值得临床推广.

  20. Simultaneous utilization of different nuclear medical examinations in a patient with Klippel-Trenaunay syndrome - vs. proteus syndrome; Simultaner Einsatz verschiedener nuklearmedizinischer Verfahren bei Klippel-Trenaunay-Syndrom - vs. Proteus-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Rink, T.; Baum, R.P.; Hoer, G. [Klinik fuer Nuklearmedizin des Zentrums der Radiologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Menzel, I.; Niemczyk, M.; Kaufmann, R. [Zentrum fuer Dermatologie und Venerologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Fuchs, S. [Inst. fuer Humangenetik, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Heller, K. [Zentrum fuer Chirurgie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany)

    1997-08-01

    A three-year-old male patient presented already at his birth a disproportional macrosomia of the left foot and a large, nodular nevus flammeus, in the left hip region, which led to the tentative diagnosis of a Klippel-Trenaunay syndrome. In the following years, both changes showed a continuous progression, with distinct soft-tissue swelling as well as papillomatous and verruciform vegetations of the nevus. Additionally, large, plain subcutaneous masses developed under the right shoulder, and a macrodactyly of the first and second left toe could be observed. Although several examinations had been performed in the meantime, the tentative diagnosis could not be confirmed up to that time. On the occasion of a severe local infection in the hip region, which led to the consideration of a surgical therapy, a radionuclide lymphography, a blood pool scintigraphy including dynamic phlebography and ventriculography as well as a bone scintigraphy were performed. These examinations were done simultaneously at one day in order to avoid a longer period of immobilization. The findings led to the diagnosis of a large lymphangioma, which could be confirmed histologically after surgery. In consideration of all results, the basic disorder seems to be the rare proteus syndrome rather than a Klippel-Trenaunay syndrome. (orig.) [Deutsch] Bei einem dreijaehrigen Jungen fiel bereits bei der Geburt ein dysproportionierter Ueberwuchs des linken Fusses sowie ein grosser Naevus flammeus mit nodulaeren Veraenderungen im Bereich der linken Huefte auf, so dass der Verdacht auf ein Klippel-Trenaunay-Syndrom geaeussert wurde. Im Laufe der weiteren Entwicklung kam es zu einer kontinuierlichen Progredienz dieser Befunde, mit deutlicher Weichteilschwellung sowie papillomatoesen und verruziformen Vegetationen des Naevus. Darueber hinaus entwickelte sich auch unterhalb der rechten Schulter eine grossflaechige, flache Raumforderung sowie eine Makrodaktylie der I. und II. Zehe links. Trotz zahlreicher

  1. Recurrent nodular haemangiomas in Klippel-Trénaunay syndrome

    DEFF Research Database (Denmark)

    Illum, N; Winther Nielsen, H; Guldhammer Skov, B

    1992-01-01

    A one-year-old child had hypertrophy of the left leg and an unusual constellation of a naevus flammeus and superficial enlarged veins of the trunk together with successive appearance and involution since birth of numerous nodular elements located in the naevus and in the surrounding normal skin...

  2. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Mayekar Avinash

    1997-01-01

    Full Text Available A 2½-year-old male child born of a nonconsanguineous marriage with high parental age presented with macrodactyly, dysmorphic features, large disfiguring lipomas, small fibromas, a linear verrucous epidermal naevus and lymphangioma circumscriptum. X-ray of hand revealed macrodystrophia lipomatosa progressiva. A lipoma and lymphangioma circumscriptum were confirmed by histopathology. The cosmetically disfiguring lipomas were excised. This is the first case report from India with the characteristic macrodactyly. This could possibly be the first case of report of a mutational disorder following intake of carbimazole during pregnancy.

  3. 颞侧眼睑分裂痣Ⅰ期手术临床治疗%Temporal divided naevus of the eyelid: one-stage surgical treatment

    Institute of Scientific and Technical Information of China (English)

    周祁; 胡向松; 毕燕龙

    2011-01-01

    Objective To evaluate the clinical effects of one stage treatment for the temporal divided naevus of the eyelid.Methods The divided naevus infiltrated to the skin,eyelid margin and tarsal plate was completely resected,and co-pedicle double hatchet skin flaps were trimmed.According to the areas of the defects and tension of the sliding flaps,shortening of the eyelids' margins were undertaken.The upper eyelid margin was reconstructed by the downward shift of the tarsal plate.According to the resected height of the tarsal plate,the extended length of the levator aponeurosisMüller's muscle compound was measured.Skin trimming was unnecessary and the incisions were usually closed under no tensions.Results Eight eyelids of eight cases were treated by this method and followed up for 22 months to 3 years,the eyelids' margins were all in normal positions,without skin chromatic aberration and obvious scar formation.The size of the palpebral fissure and eyelids' movement were normal and no recurrence happened in all patients.Conclusions In addition to the design of the skin flaps,the shortening and reconstruction of the eyelid margin and the balance of the levator palpebrae muscle should also be considered for a bigger temporal divided uaevus in the eyelid.%目的 探讨颞侧眼睑分裂痣Ⅰ期手术的临床疗效.方法 术中先完全切除患侧浸及皮肤、睑缘及睑板的痣组织,并制作共蒂双斧状皮瓣.根据病变切除范围的大小及皮瓣转位后的张力,做相应睑缘缩短.通过睑板下移做睑缘重建.根据睑板切除的高度计算上睑提肌-Müller肌的延长量.皮瓣转位覆盖缺损的眼睑皮肤,在低张力下缝合.结果 8例8只眼均为单侧,术后经22个月至3年的随访,患眼脸缘位置正常,皮肤无明显色差,瘢痕不明显,患眼睑裂大小及上下睑活动良好,未见痣复发.结论 针对较大的颞侧眼睑分裂痣,治疗中除需考虑皮瓣修复的设计外,睑板缩短、睑缘重建和上睑

  4. 青光眼术后滤过泡感染及滤过泡相关性眼内炎的临床观察%Clinical observation of filtering bleb infections and filtration bleb-related endophthalmitis after glaucoma surgery

    Institute of Scientific and Technical Information of China (English)

    张蕾; 陶静; 吴雅颖

    2012-01-01

    目的 探讨青光眼术后滤过泡感染及滤过泡眼内炎的危险因素以及临床表现和预后转归.方法 查阅近5年医院行青光眼滤过手术的病历,依据术中是否放置丝裂霉素C(MMC)分为两组,讨论MMC的放置增加滤过泡感染的可能性;并总结医院近5年滤过泡感染及相关性眼内炎的病历,将其分为单纯感染组和眼内炎组,探讨其临床表现、病原学、治疗及临床预后.结果 手术中巩膜下放置抗代谢药物,术后发生滤过泡相关感染的患者为1.36%,而手术中未使用抗代谢药物组为0.44%,两组比较差异有统计学意义(P<0.05),单纯滤过泡感染组治疗前后眼内压分别为(16.25±3.30)、(14.88±3.42) mm Hg,眼内炎组治疗前后眼内压分别为(18.36±14.12)、(15.00±3.12)mm Hg,两组比较差异无统计学意义;在病原学检查方面眼内炎组革兰阴性菌和革兰阳性菌感染的例数分别为8例和7例,而单纯滤过泡感染组则为7例和3例,两组比较差异无统计学意义.结论 术中单次应用抗代谢类药物可以有效提高滤过泡的功能化率,但其与滤过泡相关性感染密切相关,术中慎用.%OBJECTIVE To discuss the risk factors for filtering bleb infections and filtration bleb-related endophthalmitis after glaucoma surgery and the clinical manifestation as well as the prognosis outcomes. METHODS The medical cases with filtering bleb infections who underwent glaucoma surgery in recent 5 years were retrospectively investigated, those participants were divided into two groups according to the intraoperative placing MMC, the possibility of placing MMC in increasing the risk of filtering bleb infections was discussed. The filtering bleb infection cases were divided into the simple infection group and the endophthalmitis group, the clinical manifestations, etiology, treatment, and the clinical prognosis were discussed. RESULTS The incidence of postoperative bleb infections in the non

  5. Photopheresis with UV-A light and 8-methoxypsoralen leads to cell death and to release of blebs with anti-inflammatory phenotype in activated and non-activated lymphocytes

    Energy Technology Data Exchange (ETDEWEB)

    Stadler, K. [Department for Internal Medicine 3, University Hospital Erlangen (Germany); Frey, B. [Department of Radiation Oncology, University Hospital Erlangen, Universitaetsstr. 27, 91054 Erlangen (Germany); Munoz, L.E.; Finzel, S.; Rech, J. [Department for Internal Medicine 3, University Hospital Erlangen (Germany); Fietkau, R. [Department of Radiation Oncology, University Hospital Erlangen, Universitaetsstr. 27, 91054 Erlangen (Germany); Herrmann, M. [Department for Internal Medicine 3, University Hospital Erlangen (Germany); Hueber, A. [Centre for Rheumatic Diseases, University of Glasgow (United Kingdom); Gaipl, U.S., E-mail: udo.gaipl@uk-erlangen.de [Department of Radiation Oncology, University Hospital Erlangen, Universitaetsstr. 27, 91054 Erlangen (Germany)

    2009-08-14

    Background: Extracorporeal photopheresis is a therapy for treatment of autoimmune diseases, cutaneous T-cell lymphoma, organ graft rejection as well as graft-versus-host diseases. The exact mechanism how the combination of 8-methoxypsoralen plus UV-A irradiation (PUVA) acts is still unclear. We investigated the cell death of activated and non-activated lymphocytes after PUVA treatment as well as the rate of released blebs and their antigen composition. Results: In presence of 8-MOP, UV-A light highly significantly increased the cell death of activated lymphocytes. The same was observed to a lesser extent in non-activated cells. Blebs derived from activated lymphocytes after PUVA treatment showed the highest surface exposition of phosphatidylserine. These blebs also displayed a high exposure of the antigens CD5 and CD8 as well as a low exposure of CD28 and CD86. Conclusion: PUVA treatment exerts anti-inflammatory effects by inducing apoptosis and apoptotic cell-derived blebs with immune suppressive surface composition.

  6. Cooperative anti-invasive effect of Cdc42/Rac1 activation and ROCK inhibition in SW620 colorectal cancer cells with elevated blebbing activity.

    Directory of Open Access Journals (Sweden)

    Marion de Toledo

    Full Text Available Rho GTPases are key regulators of tumour cell invasion and therefore constitute attractive targets for the design of anticancer agents. Several strategies have been developed to modulate their increased activities during cancer progression. Interestingly, none of these approaches took into account the existence of the well-known antagonistic relationship between RhoA and Rac1. In this study, we first compared the invasiveness of a collection of colorectal cancer cell lines with their RhoA, Rac1 and Cdc42 activities. A marked decrease of active Cdc42 and Rac1 correlated with the high invasive potential of the cell lines established from metastatic sites of colorectal adenocarcinoma (LoVo, SKCo1, SW620 and CoLo205. Conversely, no correlation between RhoA activity and invasiveness was detected, whereas the activity of its kinase effector ROCK was higher in cancer cell lines with a more invasive phenotype. In addition, invasiveness in these colon cancer cell lines was correlated with a typical round and blebbing morphology. We then tested whether treatment with PDGF to restore Cdc42 and Rac1 activities and/or with Y27632, a chemical inhibitor of ROCK, could decrease the invasiveness of SW620 cells. The association of both treatments substantially decreased the invasive potential of SW620 cells and this effect was accompanied by loss of membrane blebbing, restoration of a more elongated cell morphology and re-establishment of E-cadherin-dependent adherens junctions. This study paves the road to the development of therapeutic strategies in which different Rho GTPase modulators are combined to modulate the cross-talk between Rho GTPases and their specific input in metastatic progression.

  7. The diagnosis and treatment of basal cell naevus syndrome%基底细胞痣综合征的诊治

    Institute of Scientific and Technical Information of China (English)

    王寅; 郭晶洁; 杨钧; 孙庚林; 李龙江

    2009-01-01

    目的 研究基底细胞痣综合征的发病情况、临床表现、诊断和治疗方法.方法 回顾性总结1999-2007年期间在天津医科大学总医院治疗的4例基底细胞痣综合征的诊断和治疗过程.结果 该综合征患者具有典型的面部特征,皮肤可见基底细胞痣(癌),手掌或足底可见特殊凹陷,骨骼系统常有单侧或双侧肋骨分叉和异常钙化,大部分患者有多发性颌骨角化囊肿的口腔表现.本组病例未发现家族史.结论 多发性颌骨角化囊肿是基底细胞痣综合征的重要临床表现之一,及时正确的治疗能使患者获得良好的生存质量.

  8. 甲母痣恶变易感性与谷胱苷肽S转移酶M1、谷胱苷肽S转移酶T1基因缺失的关系%Relationship between the deletion of GSTM1, GSTT1 genes and susceptibility to malignant of nail matrix naevus

    Institute of Scientific and Technical Information of China (English)

    谢锋; 张正文; 李振鲁; 侴海燕; 李磊; 李昊

    2010-01-01

    目的 探讨谷胱苷肽S转移酶M1(GSTM1)、谷胱苷肽S转移酶T1(GSTT1)基因缺失与甲母痣恶变之间的关系.方法 采用聚合酶链反应(PCR)技术检测77例甲母痣恶变患者和107例甲母痣患者中GSTM1、GSTT1基因缺失的频率.结果 病例组GSTM1基因缺失的频率为58.4%,显著高于对照组的缺失频率42.1%(x2=4.811,P<0.05),危险度分析得出OR=1.938,95%CI为1.070~3.509;病例组GSTT1基因缺失的频率为57.1%,接近对照组50.5%的水平(x2=0.802,P>0.05).联合分析表明两基因在甲母痣恶变发生中具有协同作用.结论 GSTM1基因缺失或GSTM1、GSTT1基因联合缺失在甲母痣恶变患者中发生频率增高,能增加甲母痣恶变的易感性.%Objective To study the relationship between the deletion of glutathione S transferase M1 ( GSTM1), glutathione S transferase T1 ( GSTT1 ) and susceptibility to Malignant of nail matrix naevus and its mechanism. Methods Using the method of PCR to detect the genotypes of GSTM1 and GSTT1 in 77 Malignant of nail matrix naevus patients and 107 nail matrix naevns people. Results There were 58.4% (45/77) malignant patients with GSTM1 null genotype in all cases and 42. 1% (45/107) persons with GSTM1 null genotype in the nail matrix naevus people, and there was significant difference between the two groups (x2 = 4. 811, P < 0. 05 ), and its OR was 1. 938 (95% CI 1. 095-3. 581 ); There were 57. 1% (44/77) malignant patients with GSTT1 null genotype in all cases and 50. 5% (54/107) persons with GSTT1 null genotype in the nail matrix naevus people, and there wasnt significant difference between the two groups (x2 = 0. 802, P > 0. 05 ) ;There were 26 cases with GSTM1 null/GSTT1 null genotype in malignant patients which was significantly higher than those in the nail matrix naevus people, and its OR was2.451 (95%CI 1.067-5.633). Conclusion GSTM1 null genotype and GSTM1/GSTT1 combined null genotype laid in much more malignant of nail matrix naevus patients

  9. Sturge-Weber syndrome. Early manifestation and visualization of disease course; Sturge-Weber-Syndrom. Fruehmanifestation und Verlauf in der Bilddiagnostik

    Energy Technology Data Exchange (ETDEWEB)

    Stranzinger, E.; Huisman, T.A.G.M. [Universitaets-Kinderklinik, Abteilung Bilddiagnostik, Zuerich (Switzerland)

    2007-12-15

    The purpose of this study was to evaluate ultrasound, MRI, and CT investigations in children with Sturge-Weber syndrome. From 1996 to 2005, a total of 15 investigations of the brain performed in 6 children with Sturge-Weber syndrome were reviewed. We evaluated four ultrasound, five CT, and six MRI exams. With ultrasound an increase of the echogenicity of the periventricular white matter was depicted in the first days of life. MRI is the best modality to demonstrate the vascular malformation, the impaired cerebral venous drainage, and the atrophy of one hemisphere. One-sided periventricular hyperechogenicity on ultrasound can be an early sign of Sturge-Weber syndrome in children with a nevus flammeus. MRI is the method of choice to diagnose Sturge-Weber syndrome and to follow up these children if the neurological status of the patients changes. (orig.) [German] Mit dieser Studie wurden die fruehen Veraenderungen des Sturge-Weber-Syndroms im MRT, CT und Ultraschall verglichen und im zeitlichen Verlauf ausgewertet. Von 1996-2005 wurden bei 6 Kindern mit Sturge-Weber-Syndrom 15 bildgebende Untersuchungen des Gehirns ausgewertet. Es konnten 4 Ultraschall-, 5 CT- und 6 MRT-Untersuchungen analysiert werden. Mit der Sonographie kann eine periventrikulaere Echogenitaetserhoehung dokumentiert werden. Die MRT ist die beste Methode, um eine einseitige vaskulaere Malformation darzustellen. Einseitige Echogenitaetserhoehungen bei Kindern mit einem Naevus flammeus koennen fruehe Zeichen einer vaskulaeren Malformation bei Sturge-Weber-Syndrom sein. Die MRT ist die beste Methode, um das Sturge-Weber-Syndrom abzuklaeren und eignet sich fuer Verlaufskontrollen, falls eine Aenderung des neurologischen Befundes auftritt. (orig.)

  10. Wortmannin induces MCF-7 breast cancer cell death via the apoptotic pathway, involving chromatin condensation, generation of reactive oxygen species, and membrane blebbing

    Directory of Open Access Journals (Sweden)

    Akter R

    2012-07-01

    Full Text Available Rozina Akter,1 Md. Zakir Hossain,2 Maurice G Kleve,3 Michael A Gealt31Applied Biosciences Emphasis, Department of Applied Science, 2Graduate Institute of Technology, 3Department of Biology, College of Science and of Mathematics, University Arkansas at Little Rock, Little Rock, AR, USABackground: Apoptosis can be used as a reliable marker for evaluating potential chemotherapeutic agents. Because wortmannin is a microbial steroidal metabolite, it specifically inhibits the phosphatidyl inositol 3-kinase pathway, and could be used as a promising apoptosis-based therapeutic agent in the treatment of cancer. The objective of this study was to investigate the biomolecular mechanisms involved in wortmannin-induced cell death of breast cancer-derived MCF-7 cells.Methods and results: Our experimental results demonstrate that wortmannin has strong apoptotic effects through a combination of different actions, including reduction of cell viability in a dose-dependent manner, inhibition of proliferation, and enhanced generation of intracellular reactive oxygen species.Conclusion: Our findings suggest that wortmannin induces MCF-7 cell death via a programmed pathway showing chromatin condensation, nuclear fragmentation, reactive oxygen species, and membrane blebbing, which are characteristics typical of apoptosis.Keywords: wortmannin, human breast adenocarcinoma, apoptosis, reactive oxygen species, flow cytometry

  11. Lid reconstruction for kissing naevus

    Directory of Open Access Journals (Sweden)

    Betharia S

    1988-01-01

    Full Text Available Repair of colobomas caused after excision of kissing naevi presents a special problem because of their symmetrical placement. Successful repair in two cases with the surgical-technique is presented. Canthotomy and cantholysis along with direct suturing and Tenzel′s semicircular rotation flap gave excellent results.

  12. 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 ...

  13. Clinical, histopathologic and ultrastructural characteristics of achromic naevus%无色素痣的临床、组织学和超微结构观察

    Institute of Scientific and Technical Information of China (English)

    严昉; 项蕾红; 李颖; 潘展砚; 郑志忠

    2010-01-01

    的无创性检测方法.%Objective To study the clinical, histopathologic and ultrastructural characteristics of achromic naevus (AN). Methods Clinical data, including sex, age, age of onset, pattern of lesions, involved sites, shape and number of lesions and associated systemic diseases, were collected from 85 patients with AN. Skin melanin index was detected in 34 lesions of 19 patients with AN, 30 lesions of 12 patients with vitiligo and 64 contralateral normal skin islands of the 31 patients. Reflectance confocal microscopy (RCM) was performed to analyze the lesion, normal skin and junctional area between lesional and normal skin of 62 patients with AN. Tissue samples were obtained from lesions and perilesional normal skin of 17 patients with AN and subjected to pathological examination as well as ultrastructural study with transmission electron microscopy; also, skin biopsy specimens were immunostained for tyrosinase, HMB45, tyrosinase-related protein-1 (TRP-1), TRP-2 and CD117. Results Of the 85 patients with AN, 23 (27.1%) developed lesions at birth, and 21 (24.7%) after 3 years of age; 72 (84.7%) had irregularly shaped lesions, 54 (63.5%) had only a single lesion. The mean melanin index and relative melanin index of AN lesions were 186.56 ± 52.86 and 80 ± 11, respectively, significantly lower than those in normal skin islands (223.88 ± 63.19 and 100, both P < 0.01), but higher than those in depigmented lesions from 12 patients with vitiligo (128.57 ± 64.31 and 60 ± 20, both P < 0.01). RCM revealed a decline in the number of melanocytes and brightness of melanin caps, even distribution of melanin in lesions, as well as obscure demarcation between lesions and normal skin from patients with AN. Fontana-Masson stain showed that the melanin content was lower in lesions than in perilesional skin (1810.12 ± 327.96 vs 2064.24 ± 260.41) from patients with AN. Microscopic examination demonstrated a decrease in melanocyte and melanosome number, presence of immature melanocytes at stage Ⅱ and

  14. 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 ...

  15. Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli

    OpenAIRE

    Pitera JE, Scambler PJ, Woolf AS.

    2008-01-01

    FRAS1 is mutated in some individuals with Fraser syndrome (FS) and the encoded protein is expressed in embryonic epidermal cells, localizing in their basement membrane (BM). Syndactyly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malformations are unclear. We demonstrate that Fras1 is expressed in the branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background. In vivo, th...

  16. Transforming growth factor-beta and the bleb scarring after glaucoma filtration surgery%转化生长因子-β与青光眼术后滤过泡瘢痕化的关系

    Institute of Scientific and Technical Information of China (English)

    张家莹; 肖以钦; 叶纹

    2012-01-01

    青光眼滤过术后滤过泡瘢痕化是手术失败的最主要原因.转化生长因子-β( TGF-β)能诱导人Tenon囊成纤维细胞表型转化,进一步迁移、增殖,合成细胞外基质,与滤过泡瘢痕化有重要关系.近年来在细胞因子及基因水平抗纤维化方面的研究取得一定进展,通过TGF-β抗体(如重组抗人TGF-β2单克隆抗体、CAT-152)、TGF-β抑制剂(如Decorin、糜酶抑制剂、SB-431542等)以及基因水平(如TGF-β的反义寡核苷酸等)来抑制TGF-β信号通路(如ALK5/Smad2/Smad3通路、MAPK通路、Rho-ROCK通路、PI3 K-AKT通路等)的重要靶点或蛋白表达,从而达到调控滤过泡瘢痕形成的作用.但目前很多药物的应用均缺乏临床试验支持,同时也缺少不同药物比较的研究.探索TGF-β细胞信号转导不同通路之间的关系,并寻找调控滤过道瘢痕化的最佳靶点是今后的研究方向.%Bleb scarring is the main cause of glaucoma filtration surgery failure. Transforming growth factor-beta (TGF-β) can induce the phenotypic modulation of human Tenon's capsule fibroblasts,then cause further migration,proliferation of the cells,synthesis of extracellular matrix,and eventually lead to the scarring of the bleb.There had been a lot of researchs at cytokine and gene level in antifibrotic area in recent years,which include TGF-β antibodies (such as anti-TGF-β2 antibody,CAT-152),TGF-β inhibitors (such as decorin,chymase inhibitor,SB-431542,etc.) and genetic level reagents (such as TGF-β antisense oligonucleotides,etc.) to inhibit the important target and protein expression in TGF-β signaling pathways (such as ALK5/Smad2/Smad3,MAPK,Rho-ROCK,PI3K-AKT signaling pathways,etc.),so as to achieve the role of reducing bleb scarring.But most of these drugs were lack of clinical trials support and of comparative studies among different drugs.Therefore,in-depth studies are still needed to explore the relationship among TGF-β cell signaling pathways,and find

  17. 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, ...

  18. 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 ...

  19. 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 ...

  20. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.

    Science.gov (United States)

    Cao, Kan; Graziotto, John J; Blair, Cecilia D; Mazzulli, Joseph R; Erdos, Michael R; Krainc, Dimitri; Collins, Francis S

    2011-06-29

    Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by premature aging. HGPS is most commonly caused by a de novo single-nucleotide substitution in the lamin A/C gene (LMNA) that partially activates a cryptic splice donor site in exon 11, producing an abnormal lamin A protein termed progerin. Accumulation of progerin in dividing cells adversely affects the integrity of the nuclear scaffold and leads to nuclear blebbing in cultured cells. Progerin is also produced in normal cells, increasing in abundance as senescence approaches. Here, we report the effect of rapamycin, a macrolide antibiotic that has been implicated in slowing cellular and organismal aging, on the cellular phenotypes of HGPS fibroblasts. Treatment with rapamycin abolished nuclear blebbing, delayed the onset of cellular senescence, and enhanced the degradation of progerin in HGPS cells. Rapamycin also decreased the formation of insoluble progerin aggregates and induced clearance through autophagic mechanisms in normal fibroblasts. Our findings suggest an additional mechanism for the beneficial effects of rapamycin on longevity and encourage the hypothesis that rapamycin treatment could provide clinical benefit for children with HGPS.

  1. 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.

  2. 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.

  3. 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 ...

  4. 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 ...

  5. 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/ ...

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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.

  11. 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…

  12. 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.

  13. 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.

  14. PHAKOMATOSIS PIGMENTOVASCULARIS: REPORT OF A CASE

    Directory of Open Access Journals (Sweden)

    Mostafa Mirshams-Shahshahani

    1995-06-01

    Full Text Available The present study introduces a rare case of phakomatosispigmenJovascularis, which is charaderiud by the existence ofpigmentary naevus ond vascular naevus. Until 1985, 63 cases ofthis syndrome have been reported, mostly in Japon (56 cases. This is the first case of phakomatosis pigmentovascularis, reported in Iran.

  15. 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.

  16. [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.

  17. [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.

  18. 颧部褐青色痣应用调Q开关1064nm激光治疗的临床疗效观察%Observe the clinical effect of Q - switched 1064nm laser on treatment of naevus fuscocaerules zygomaticus

    Institute of Scientific and Technical Information of China (English)

    刘红娟

    2015-01-01

    目的:观察分析颧部褐青色痣应用调 Q 开关1064nm 激光治疗的临床疗效。方法:选取2012年10月到2014年6月在我院接受治疗颧部褐青色痣的45例女性患者,根据治疗方法进行分组,实验组23例,对照组22例。对照组患者给予532nm 波长进行治疗,实验组患者在调 Q 开关1064nm 激光治疗,对两组患者的临床效果和不良反应进行比较。结果:治疗次数与临床治疗效果呈显著正比关系,治疗5次的总有效率(100.00%)远远高于治疗1次的总有效率(33.33%);在治疗3次后,实验组的总有效率(86.96%)显著高于对照组的总有效率(59.09%);实验组出现色素沉淀有6例,占26.09%显著低于对照组出现色素沉淀有13例,占59.09%,差异有统计学意义。结论:应用调 Q 开关1064nm 激光治疗颧部褐青色痣具有良好的临床效果,在临床应用上安全可靠,具有重要价值。%ObjectiveTo observe and analyze the clinical curative effect of Q - switched 1064nm laser on treatment of nae-vus fuscocaerules zygomaticus. Methods Selected 45 cases of female naevus fuscocaerules zygomaticus patients who accepted treatment in our hospital from 2012 October to 2014 June, they were divided into groups according to the treatment method, there were 23 cases in experimental group and 22 cases in control group. Control group were treated with wavelength of 532nm, experimental group used Q switched 1064nm laser treatment, compared the clinical effect and adverse reactions of two groups. Results The treatment times increased with the increase of clinical curative effect, the total effective rate of 5 times(100%) was much higher than(33.33%) of treatment 1 time; After 3 times of treatment, the total effective rate of experimental group (86.96%) was significantly higher than (59.09%) of control group; There were 6 patients occurred pigmentation, accounting for 26.09%, it was significantly lower than control group

  19. Q开关Nd:YAG激光联合生物美白液治疗 61例颧部褐青色痣%Efficacy of Naevus Fuscocaeruleus Zygomaticus Treated by Q-switched Nd:YAG Laser Associated with Biological Whitening

    Institute of Scientific and Technical Information of China (English)

    廖烈兰

    2012-01-01

    Objective To evaluate therapeutic effect of naevus fuscocaeruleus zygomaticus associated with biological whitening to lessen pigmentation and shorten the coures of treatment.Methods To review and analyze the clinical data of 118 patients with naevus fuscocaeruleus zygomaticus which had been recovered in the past years ranged from Jun 2005 to Jun 2010. All the cases were treated by Q-switched Nd: YAG laser and divided into two groups; the the treatment apcutic group with 61 cases were applied otherwise biological whitening after the IS d and the control group with 57 cases to compare the interval time and course of treatment and effect.Results The average interval time of the treatment apcutic group and the control group was respectively 74. 59 days and 105. 24 days, and the average time of therapy of both groups was respectively 453. 37 days and 651. 28 days, and the effective rate was 96. 7% and 79. 0% , and pigmentation of both groups was 19 cases and 28 cases. The difference of them was statistically significant ( P < 0. 05 ). Conclusions The therapeutic method of naevus fuscocaeruleus zygomaticus treated by Q-switched Nd: YAC 1 064 nm laser associated with biological whitening is worth to use in clinic because of less pigmentation, shorter time of therapy and better effect.%目的 探讨Q开关Nd:YAG1064 nm激光联合生物美白液治疗颧部褐青色痣的疗效及对继发性色素沉着的发生、疗程的影响.方法 对颧部褐青色痣患者118例,随机分为治疗组和对照组.治疗组61例采用Q开关Nd:YAG激光联合生物美白液治疗,对照组57例采用仅采用Q开关Nd:YAG激光治疗,比较两组治疗间隔时间、总治疗时间及疗效.结果 治疗组与对照组评均治疗间隔时间分别为74.59 d和105.24d,总治疗时间分别为453.37 d和651.28d,有效率分别为96.7%和79.0%,两组差异均有显著意义(P<0.05).继发性色素沉着治疗组19例,发生率31.2%;对照组28例,发生率49.1

  20. CO2激光和调QNd∶YAG激光单独或联合治疗鼻翼先天性色素痣%The Efficiency of CO2 Laser and Q-switched Nd∶YAG Laser to Treat Congenital Melanocytic Naevus of Nasal Alar by Single or Combined Treatment

    Institute of Scientific and Technical Information of China (English)

    曾颖; 林琼珠; 占魁

    2013-01-01

    Objective To observe the curative effect of the laser treatment on congenital melanocytic naevus developed on ala nais.Methods Single or combined treatment with Q-switched Nd ∶ YAG laser was used according to the morphological characteristics of congenital melanocytic naevus of nasal alar,A group was treated with CO2 laser.B group was treated with Q-switched Nd ∶ YAG laser.C group was treated with CO2 laser and Q-switched Nd ∶ YAG laser.A group was treated with CO2 laser at the power of 3-5 W until the lesions were ablated completely,and the wounds were shaped according to the appearance of the ala nais.In B group,the lesions were treated with the Q-switched Nd ∶ YAG laser at the energy density of 3-8 J/cm2 to make the wound gray and lightly exuding.Results All of the 27 patients were followed up for one year after the treatment.The average treatment times were 1.9,4.2 and 3.4respectively in the CO2 laser group,Nd∶YAG group and the combination group.Ten of the patients were cured,12 of them got moderate results,and 5 had no effect.Conclusions Selecting appropriate laser treatment in terms of the clinical characteristics of congenital melanocytic naevus developed on ala nais is useful to avoid skin graft,simplify the treatment and get good cosmetic results.%目的 鼻翼先天性色素痣的激光治疗方法的选择和疗效观察.方法 根据治疗方法分为三组,A组CO2激光组,治疗患者10例;B组调Q Nd∶ YAG激光组,治疗患者9例;C组两种激光联合应用组,治疗患者8例.A组采用CO2激光治疗,功率3~5 W照射烧灼病灶,直至完全将病灶清除,并根据鼻翼及其周围组织的外观形态塑造伤口的形态.B组采用调Q Nd∶ YAG激光治疗,能量密度3~8 J/cm2对病灶进行点状扫描照射使创面呈现灰白色并轻微渗血.结果 本组27例病例末次治疗后随访1年.其中,A组平均治疗次数1.9次,B组平均治疗次数4.2次;C组平均治疗次数3.4次.27例患者,痊愈10例(占37

  1. 伊藤痣%Naevus of Ito

    Institute of Scientific and Technical Information of China (English)

    常建民

    2006-01-01

    患者男,34岁。主诉:肩背部色素斑30年。现病史:患者自4岁始右肩背部出现色素斑,无自觉症状,色素斑逐渐扩大。曾在当地医院就诊,诊断为蒙古斑,未予治疗。30年来,皮损由原来的5分硬币大扩展至整个肩部、右上背部及右上臂。局部无疼痛、麻木及出汗不良等症状,于2004年5月至我科就诊。

  2. 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.

  3. [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.

  4. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

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

  5. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

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

  6. 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.

  7. 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.

  8. 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.

  9. 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 ...

  10. 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 ...

  11. 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.

  12. 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.

  13. 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.

  14. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

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

  15. 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 ...

  16. 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: ...

  17. 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 ...

  18. 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.

  19. 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....

  20. 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

  1. 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

  2. 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.

  3. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

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

  4. 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.

  5. [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.

  6. 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: ...

  7. 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. ...

  8. 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 ...

  9. 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.

  10. 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 ...

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. [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.

  15. 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.

  16. [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.

  17. 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,...

  18. 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...

  19. 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 ...

  20. 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 ...

  1. 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 ...

  2. 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 ...

  3. 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...

  4. 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.

  5. 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.

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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 ...

  11. 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 ...

  12. 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.

  13. The observation of therapertic effect of naevus fuscocaeruleus zygomaticus treated by Q-switched Nd: YAG laser associated with recombinant human epidermal growth factor%Q开关Nd: YAG激光联合重组人表皮生长因子治疗颧部褐青色痣疗效观察

    Institute of Scientific and Technical Information of China (English)

    杨海波; 李大铁; 安丽莎; 文洋; 唐正喜

    2008-01-01

    目的:评价Q开关Nd: YAG激光联合重组人表皮生长因子(recombinant human epidermal growth factor, rhEGF)在治疗颧部褐青色痣(naevus fuscocaeruleus zygomaticus NFZ)过程中对减轻色素沉着,缩短疗程的作用.方法:对2004年12月~2007年12月采用Q开关Nd: YAG激光治愈的52例颧部褐青色痣患者的临床资料进行回顾性分析,治疗组27例(治疗后外涂重组人表皮生长因子),对照组25例(治疗后待自然愈合),比较其治疗间隔时间、疗程的长短.结果:治疗组与对照组平均治疗间隔时间分别为74.59天及105.24天,平均疗程分别为453.37天及651.28天,两组差异有统计学意义(P<0.05).结论:Q开关Nd: YAG激光联合重组人表皮生长因子治疗颧部褐青色痣色素沉着轻、疗程较短,值得临床推广.

  14. Q开关激光1064nm联合532/1064nm混合波长治疗颧部褐青色痣%Efficacy of Q-switched laser I064nm combining 532/1064nm mixing wave length: treatment on Naevus Fuscocaendeus Zygomaticu

    Institute of Scientific and Technical Information of China (English)

    安丽莎; 李大铁; 唐正喜; 王晶; 谢永红; 黄(东力)凯

    2009-01-01

    目的:观察Q开关Nd=YAG激光1064nm联合532/1064nm混合波长治疗颧部褐青色痣(Naevus Fuscocaendeus Zygomaticus,NFZ)的疗效分析.方法:选择1064nm联合532/1064nm混合波长治疗NFZ 158例,每次治疗间歇期为3-6月,平均治疗4次.结果:3例治疗2次,86例治疗3~4次,61例治疗超过4次,8例中途放弃治疗.最后一次治疗后6~12个月后复诊,有效率可达100%,治愈率为61.3%.约10%的患者术后产生较严重的色素沉着,多为可逆性,一般6~10月后会自行变淡.术后无一例产生瘢痕或色素脱失等不良反应.结论:Q开关激光1064nm联合532/1064nm混合波长治疗NFZ能有效降低术后色素沉着的发生,并大大的提高治愈率,是目前治疗该病较为理想的一种方法.

  15. [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.

  16. 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...

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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...

  2. 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

  3. 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.

  4. [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.

  5. 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.

  6. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

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

  7. 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...

  8. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

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

  9. [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.

  10. 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

  11. 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.

  12. 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).

  13. 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.

  14. 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

  15. 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 ...

  16. 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 ...

  17. 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 ...

  18. 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.

  19. 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....

  20. [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.

  1. 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.

  2. 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

  3. 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 ...

  4. 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

  5. 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.…

  6. 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. ...

  7. 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.

  8. 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

  9. 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 ...

  10. 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, ...

  11. 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 ...

  12. [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.

  13. 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.

  14. 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.

  15. 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 ...

  16. 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…

  17. 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.

  18. 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+.

  19. 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.

  20. 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.

  1. 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...

  2. 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.

  3. 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.

  4. 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...

  5. 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.

  6. [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.

  7. 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.

  8. 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 ...

  9. 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 ...

  10. 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.

  11. 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 ...

  12. 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 ...

  13. 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.

  14. 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

  15. 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.

  16. 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 ...

  17. 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.

  18. Q开关Nd∶YAG激光治疗褐青色痣术后皮肤修复应用胶原贴冷敷膜的效果观察%The effect of cold compress collagen dressing in skin regeneration after Q-switch Nd∶ YAG laser in the treatment of naevus fuscocaenleus zygomaticus

    Institute of Scientific and Technical Information of China (English)

    柯娅楠; 余泳; 陈月明; 杨坤霞; 吴淑君; 王艳芳

    2016-01-01

    目的 观察胶原贴冷敷膜对Q开关Nd:YAG激光治疗褐青色痣术后皮肤修复的效果.方法 将126例褐青色痣患者通过随机数字表法分为观察组和对照组,每组各63例.观察组于术后外敷胶原贴冷敷膜;对照组仅单纯使用冰敷.术后随访1周,观察两组间皮肤修复情况及患者主观疼痛程度.结果 观察组的皮肤修复速度及患者主观疼痛感受均明显优于对照组,组间比较差异有统计学意义(P<0.05),观察组未出现过敏等不良反应.结论 Q开关Nd∶ YAG激光治疗褐青色痣术后应用胶原贴冷敷膜可有效促进皮肤修复,改善患者疼痛程度.%Objective To assess the effect of cold compress collagen dressing in skin regeneration after Q-switch Nd∶ YAG laser in the treatment of naevus fuscocaenleus zygomaticus (NFZ).Methods 126 patients with NFZ were divided into observation group and control group by the random number table,63 cases in each group.Cold compress collagen dressing was used after surgery in observation group,and ice compress was used in control group.Skin repair situation and subjective pain degree were observed in 1 week after surgery.Results Skin repair speed and subjective pain degree in observation group were both better than those in control group,with statistically significant differences between two groups (P<0.05).There were no adverse reactions such as allergy in observation group.Conclusion After Q-switch Nd∶ YAG laser in the treatment of NFZ,cold compress collagen dressing can effectively improve skin regeneration and pain degree of patients.

  19. 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...

  20. 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

  1. 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.

  2. 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.

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. 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 ...

  13. 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.

  14. 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 (

  15. 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.

  16. 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.

  17. Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

    Science.gov (United States)

    Pitera, Jolanta E; Scambler, Peter J; Woolf, Adrian S

    2008-12-15

    FRAS1 is mutated in some individuals with Fraser syndrome (FS) and the encoded protein is expressed in embryonic epidermal cells, localizing in their basement membrane (BM). Syndactyly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malformations are unclear. We demonstrate that Fras1 is expressed in the branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background. In vivo, the bl/bl bud fails to invade metanephric mesenchyme which undergoes involution, events replicated in organ culture. The expression of glial cell line-derived neurotrophic factor and growth-differentiation factor 11 was defective in bl/bl renal primordia in vivo, whereas, in culture, the addition of either growth factor restored bud invasion into the mesenchyme. Mutant primordia also showed deficient expression of Hoxd11 and Six2 transcription factors, whereas the activity of bone morphogenetic protein 4, an anti-branching molecule, was upregulated. In wild types, Fras1 was also expressed by nascent nephrons. Foetal glomerular podocytes expressed Fras1 transcripts and Fras1 immunolocalized in a glomerular BM-like pattern. On a mixed background, bl mutants, and also compound mutants for bl and my, another bleb strain, sometimes survive into adulthood. These mice have two kidneys, which contain subsets of glomeruli with perturbed nephrin, podocin, integrin alpha3 and fibronectin expression. Thus, Fras1 protein coats branching UB epithelia and is strikingly upregulated in the nephron lineage after mesenchymal/epithelial transition. Fras1 deficiency causes defective interactions between the bud and mesenchyme, correlating with disturbed expression of key nephrogenic molecules. Furthermore, Fras1 may also be required for the formation of normal glomeruli.

  18. Schimmelpenning syndrome: a case report%Schimmelpenning综合征一例

    Institute of Scientific and Technical Information of China (English)

    王焱; 冯广东; 王晶; 陈浩; 张倩; 武新英; 薛昌敖; 方方; 孙建方

    2016-01-01

    A 17-year-old female patient presented with generalized brown verrucous proliferative skin lesions on the right side of the head,face and neck for 17 years.Ophthalmoscopy showed a hard cystic mass in the right lacrimal sac area with absence of right lower lacrimal punctum.Magnetic resonance imaging of the orbit revealed a quasi-circular mass compressing the ethmoid sinus and extraocular muscles in the right lacrimal sac area.Histopathological examination of skin lesions of the head and face revealed epidermal hyperkeratosis,acanthosis,papillomatous hyperplasia in the epidermis,numerous mature or immature sebaceous glands in the dermis,and ectopic apocrine sweat glands in some areas.A pathological diagnosis of naevus sebaceous was made.Verrucous vegetation was observed in the oral mucosa including the right side of the palate and tongue,and orthopanotomography showed poor development of the right side of upper and lower jaw bones as well as alveolar bones.Moreover,there were large areas of coffee-colored patches and brown spots on both upper extremities.The patient had average intelligence and a history of convulsion.She was diagnosed with Schimmelpenning syndrome.Lesions were partially removed by surgical excision.%患者女,17岁,右侧头面颈部泛发性褐色疣状增殖性皮损17年.右眼下睑泪囊区触及一质硬囊性肿物,右下泪小点缺如.眼眶核磁平扫:右眼泪囊区可见一类圆形肿物,压及筛窦及眼外肌.头面部皮损组织病理示:表皮角化过度,棘层增生肥厚,表皮乳头瘤样增生,真皮内可见大量成熟及不成熟的皮脂腺结构,部分见异位的大汗腺,诊断为皮脂腺痣.口腔右侧黏膜,包括右侧上腭及右半舌部见疣状赘生物;口腔全景片示右侧上下颌骨及牙槽骨发育欠佳.此外,双上肢可见大面积咖啡色斑片及褐色斑点.患者智力中等,既往有惊厥史.诊断:Schimmelpenning综合征.经皮肤外科手术后去除部分皮损.

  19. 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

  20. 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.

  1. 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

  2. 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.

  3. 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 ...

  4. 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 ...

  5. 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 ...

  6. 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.

  7. 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.

  8. 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 ...

  9. 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

  10. 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 ...

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. 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 ...

  16. 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 ...

  17. 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 ...

  18. 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 ...

  19. 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 ...

  20. 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 ...

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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 ...

  5. 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 ...

  6. Efficacy of Combined Therapy of Q-switched Alexandrite Laser and Collagen Protein Membrane on Naevus Fuscocaeruleus Zygomaticus%调Q翠绿宝石激光联合胶原蛋白膜治疗褐青色痣的疗效观察

    Institute of Scientific and Technical Information of China (English)

    杨超; 刘刚; 陈小霞; 严蕾; 王芳; 谢军; 袁晓慧

    2012-01-01

    目的 探讨调Q翠绿宝石激光联合胶原蛋白膜治疗褐青色痣的疗效.方法 褐青色痣女性患者267例,按就诊年度,分为2组,实验组138例,对照组129例.两组患者均先以调Q翠绿宝石激光(波长755 nm,光斑直径3mm,频率2或5 Hz,脉宽100 ns,能量密度6~7 J/cm2)垂直照射患处.照射后即刻实验组患者以胶原蛋白膜冷敷患处20 min,对照组患者以水袋冷敷患处20 min.每日治疗1次,共5次.治疗后6个月比较两组的治愈率、总有效率和色素沉着发生率.结果 试验组有效率为92%,痊愈率为64.5%,色素沉着率为13.8%;对照组有效率为86%,痊愈率为59.7%,色素沉着率为28.7%%.两组痊愈率比较,差异有非常显著意义(P<0.01);两组总有效率比较,差异无显著意义(P>0.05);两组色素沉着发生率比较,差异有显著意义.结论 调Q翠绿宝石激光联合胶原蛋白膜治疗褐青色斑痣效果好,可减少色素沉着的发生.%Objective To observe the effect of the therapy combining Q-switched alexandrite laser and collagen protein membrane on naevus fuscocaeruleus zygomaticus ( NFZ). Methods Altogether 129 patients with NEZ were assigned to a control group, who were given Q-switched alexandrite laser and applied with ice pack for 20 minutes after the laser treatment. A test group was set up with 138 patients of NEZ, who were treated with the same laser but given collagen protein membrane for 20 minutes after the treatment. Each patient received five treatments in total, once per day. All the patients were required to use the same antibiotics ointment for 7 days and avoid water and the sun. The pictures of the focus before and after the treatment were taken, and the adverse reactions of the treatment were observed. Results The efficacy, recovery and pigmentation rates of the test group are 92% , 64. 5% and 13. 8 % respectively while those of the control group being 86% , 59.7% , and 28.7% respectively. According to the

  7. 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 ...

  8. 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.

  9. 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,…

  10. 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 ...

  11. 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.

  12. 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

  13. [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.

  14. 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.

  15. 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

  16. 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

  17. [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.

  18. 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.

  19. 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

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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 ...

  11. 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) ...

  12. 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...

  13. 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.

  14. 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 ...

  15. 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...

  16. 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.

  17. 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....

  18. [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.

  19. 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.

  20. 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...

  1. 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...

  2. 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 ...

  3. Medfødt lineært naevus sebaceus

    DEFF Research Database (Denmark)

    Linnemann, Anders; Bygum, Anette; Fenger-Grøn, Jesper

    2011-01-01

    An unusual case of nevus sebaceous is described. Nevus sebaceous is a congenital epidermal hamartoma of the skin and the predilection site is the head or neck. In this case the nevus followed the lines of Blaschko along the back of the left lower extremity. The linear lesion seemed papulovesicula...

  4. Een niet-gepigmenteerde naevus als ongewone gingivazwelling

    NARCIS (Netherlands)

    Wijs, R.W.; Meleti, M.; Bloemena, E.; van der Waal, I.

    2012-01-01

    De patiënt vertelde dat de zwelling al ten minste enkele jaren aanwezig was en haar nooit enig ongemak had bezorgd. De medische anamnese bracht geen bijzonderheden aan het licht. Bij intraoraal onderzoek werd een vastelastische, enigszins gesteelde, epulisachtige zwelling van de buccale gingiva en a

  5. 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 ...

  6. [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.

  7. [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.

  8. 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.

  9. 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.

  10. Endoplasmic reticulum stress causes autophagy and apoptosis leading to cellular redistribution of the autoantigens Ro/Sjögren's syndrome-related antigen A (SSA) and La/SSB in salivary gland epithelial cells.

    Science.gov (United States)

    Katsiougiannis, S; Tenta, R; Skopouli, F N

    2015-08-01

    The aim of this study was to examine the levels of endoplasmic reticulum (ER) stress in minor salivary glands, to investigate the interplay between ER stress-induced autophagy and apoptosis in human salivary gland (HSG) cells and to test the effect of ER stress-induced apoptosis on the cellular redistribution of the two major Sjögren's syndrome (SS) autoantigens Ro/Sjögren's syndrome-related antigen A (SSA) and La/Sjögren's syndrome-related antigen B (SSB). Minor salivary gland biopsies from SS patients and sicca controls were examined by immunohistochemistry for the expression of 78 kDa glucose-regulated protein/binding immunoglobulin protein (GRP78/BiP) as an indicator of unfolded protein response (UPR). HSG cells were treated with thapsigargin (TG) and cell viability, autophagy and apoptosis were assessed. Immunoblot was applied to detect the conversion of LC3I to LC3II and the protein levels of GRP78/BiP and X-box binding protein-1 (XBP-1). Apoptosis was evaluated by a single-stranded DNA enzyme-linked immunosorbent assay (ELISA). Ro/SSA and La/SSB localization was visualized using immunofluorescence. GRP78/BiP was expressed by acinar and ductal epithelial cells in salivary glands of patients and sicca controls. TG treatment induced autophagy, as indicated by enhanced protein expression of LC3II. The protein levels of UPR marker XBP-1 were increased after TG treatment, while GRP78/BiP levels were decreased. TG treatment resulted in induction of HSG apoptosis. Ro/SSA and La/SSB autoantigens were localized predominantly to the cytoplasm in resting cells, while they were redistributed to cell membrane and blebs in the apoptotic cells. In conclusion, ER stress is activated in minor salivary gland epithelial cells from SS patients and controls. ER stress-induced apoptosis in HSG cells leads to cell surface and apoptotic blebs relocalization of Ro/SSA and La/SSB autoantigens.

  11. 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 ...

  12. 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.

  13. 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…

  14. 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

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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 ...

  20. 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.

  1. 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.

  2. 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.

  3. 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 ...

  4. 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 ...

  5. 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

  6. 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.

  7. 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...

  8. 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 ...

  9. 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

  10. 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.

  11. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

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

  12. 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, ...

  13. 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 ...

  14. Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes.

    Directory of Open Access Journals (Sweden)

    Thomas J Carney

    2010-04-01

    Full Text Available Using forward genetics, we have identified the genes mutated in two classes of zebrafish fin mutants. The mutants of the first class are characterized by defects in embryonic fin morphogenesis, which are due to mutations in a Laminin subunit or an Integrin alpha receptor, respectively. The mutants of the second class display characteristic blistering underneath the basement membrane of the fin epidermis. Three of them are due to mutations in zebrafish orthologues of FRAS1, FREM1, or FREM2, large basement membrane protein encoding genes that are mutated in mouse bleb mutants and in human patients suffering from Fraser Syndrome, a rare congenital condition characterized by syndactyly and cryptophthalmos. Fin blistering in a fourth group of zebrafish mutants is caused by mutations in Hemicentin1 (Hmcn1, another large extracellular matrix protein the function of which in vertebrates was hitherto unknown. Our mutant and dose-dependent interaction data suggest a potential involvement of Hmcn1 in Fraser complex-dependent basement membrane anchorage. Furthermore, we present biochemical and genetic data suggesting a role for the proprotein convertase FurinA in zebrafish fin development and cell surface shedding of Fras1 and Frem2, thereby allowing proper localization of the proteins within the basement membrane of forming fins. Finally, we identify the extracellular matrix protein Fibrillin2 as an indispensable interaction partner of Hmcn1. Thus we have defined a series of zebrafish mutants modelling Fraser Syndrome and have identified several implicated novel genes that might help to further elucidate the mechanisms of basement membrane anchorage and of the disease's aetiology. In addition, the novel genes might prove helpful to unravel the molecular nature of thus far unresolved cases of the human disease.

  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. In vitro growth characteristics of human Tenon capsule fibroblasts from patients with bleb scaring after antiglaucoma filtration surgery%抗青光眼术后滤过泡瘢痕化组织人Tenon囊成纤维细胞的生长特性

    Institute of Scientific and Technical Information of China (English)

    李中秋; 张孝生; 卢弘

    2014-01-01

    Background Human Tenon fibroblasts (HTFs) are the main cell component in scar tissue after antiglaucomatous filtrating surgery.To study the in vitro growth and proliferation features will offer an approach to the preventing and treating of scarring following antiglaucomatous filtrating surgery.Objective The goal of present study was to investigate the growth characteristics of HTFs in vitro from patients with bleb scarring after antiglaucomatous filtrating surgery.Methods This study process was approved by Ethic Committee of Beijing Chaoyang Hospital,and informed consent was obtained from each subject prior to the initaion of the study.The specimens of scaring tissue were obtained during the secondary trabeculectomy from 8 eyes with bleb scaring after initial antiglaucomatous filtrating surgery with the tissue size of 4 mm×5 mm,and the normal Tenon capsule specimens were acquired during the strabismus surgery from 8 eyes in the same way.HTFs were primarily cultured and passaged by tissue explants adherent method and identified using immunoinfluorescence technique with vemintin antibody.Nest PCR was used to exclude the mycoplasma infection during the culturing process.The morphology,growth curve and population doubling time (PDT) of the fifth generation of cells were examined and calculated by luminescence method cell vitality method 0,4,7,11,14 days and compared between the patients and normal groups.The stability of the cell growth was assessed by comparing the morphology,growth curve and PDT between the fifth generation and fifteenth generation of HTFs.Results Primarily cultured cells reached confluence 1-2 weeks with the similar shape to HTFs.The growth properties of the cells were same between the scarring group and normal group and showed positive response for vemintin antibody.No react band for mycoplasma was detected.The PDT was (20.54±3.51) hours and (18.86±2.91) hours in the scarring group and normal group,respectively,showing insignificant difference

  5. 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 ...

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. 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.

  11. Patienter med basalcellenævussyndrom bør tilbydes tidlig interdisciplinær opfølgning og behandling

    DEFF Research Database (Denmark)

    Bay, Christiane; Ousager, Lilian Bomme; Jelsig, Anne Marie

    2016-01-01

    Basal cell naevus syndrome (Gorlin-Goltz syndrome) is a rare, autosomal dominantly inherited condition with a wide range of developmental and multiple organ-related anomalies. Cardinal features include multiple basal cell carcinomas, jaw cysts, palmoplantar pits and calcification of the falx...

  12. 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...

  13. 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...

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. [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.

  3. [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.

  4. [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.

  5. 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

  6. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

    Directory of Open Access Journals (Sweden)

    Xavier Nissan

    2012-07-01

    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  7. Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA.

    Science.gov (United States)

    Nissan, Xavier; Blondel, Sophie; Navarro, Claire; Maury, Yves; Denis, Cécile; Girard, Mathilde; Martinat, Cécile; De Sandre-Giovannoli, Annachiara; Levy, Nicolas; Peschanski, Marc

    2012-07-26

    One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS), who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  8. 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.

  9. 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.

  10. 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 ...

  11. 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 ...

  12. 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.

  13. 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...

  14. 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, ...

  15. 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.

  16. 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.

  17. 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- ...

  18. 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...

  19. 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 ...

  20. 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 ...

  1. 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...

  2. 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 ...

  3. 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.

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. 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.

  8. 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.

  9. 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 ...

  10. 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.

  11. 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 ...

  12. 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.

  13. 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.

  14. 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 ...

  15. 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, ...

  16. 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 ...

  17. 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 ...

  18. 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 ...

  19. 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 ...

  20. 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 ...

  1. 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

  2. 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.

  3. 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 ...

  4. 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 ...

  5. 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 ...

  6. 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.

  7. 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 ( ...

  8. 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 ...

  9. 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 ...

  10. 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 ...

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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...

  16. Neurocutaneous syndromes; Neurokutane Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-09-15

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

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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...

  3. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P

    2010-01-01

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

  4. 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...

  5. 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.

  6. 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

  7. 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, ...

  8. 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.

  9. 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.

  10. [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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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

  18. 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.

  19. 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.

  20. 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