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Sample records for neurocutaneous syndrome characterized

  1. Neurocutaneous syndromes; Neurokutane Erkrankungen

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    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.)

  2. Neurocutaneous syndrome: A prospective study

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    Radheshyam Purkait

    2011-01-01

    Full Text Available Background: Neurocutaneous syndromes (NCS are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children. Aim: The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations. Materials and Methods: This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years. Results: The study population comprised of 67 children (35 boys, 32 girls.The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months. The various forms of NCS observed was neurofibromatosis 1(NF1 (n=33, tuberous sclerosis complex (TSC (n=23, Sturge Weber syndrome (n=6, ataxia telangiectasia (n=2, PHACE syndrome (n=1, incontinentia pigmenti (n=1, and hypomelanosis of Ito (n=1. The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs with time (P=0.0002 in NF1, unlike that of hypopigmented macules of TSC (P=0.15. Statistically, no relation was documented between the evolution of skin

  3. Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes.

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    Dies, Kira A; Sahin, Mustafa

    2015-01-01

    Neurocutaneous disorders vary widely in clinical presentation as well as genetic cause and inheritance pattern. Recent advancements in genetic research have identified many of the causal genes for neurocutaneous disorders, allowing families to receive genetic testing and genetic counseling to better understand carrier risks, recurrence risks for future generations, and reproductive options such as prenatal testing and preimplantation diagnosis. Examples of specific neurocutaneous disorders are utilized to illustrate the various inheritance patterns seen in this heterogeneous group of disorders, including autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, de novo, and somatic and germline mosaicism. © 2015 Elsevier B.V. All rights reserved.

  4. Neurocutaneous Melanosis: A Case Report

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    Seo, Yoon Nae; Jeong, Hae Woong; In, Hyun Sin [Dept. of Radiology, Busan Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2011-12-15

    Neurocutaneous melanosis is a rare disorder characterized by the presence of a large or multiple congenital melanocytic nevus with proliferation of melanocytes in the central nervous system. The prognosis of neurocutaneous melanosis is extremely poor and its diagnostic approach requires understanding its brain magnetic resonance imaging findings. We report a patient with asymptomatic neurocutaneous melanosis and its radiologic findings.

  5. Neurocutaneous Syndromes

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    ... of seizures , learning disabilities, attention deficit disorder (ADHD) , autism , and speech problems . Therapy and specialists can help manage those symptoms. Neurofibromatosis Type 2 Neurofibromatosis type 2 is less common, ...

  6. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome [version 1; referees: 2 approved

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    Anna Pinto

    2016-03-01

    Full Text Available Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major cause. GNAQ encodes for an alpha subunit of a heterotrimeric G protein critical to blood vessel development. The earlier the timing of the mutation in development, the more severe the involvement, e.g. from isolated port-wine stains to the full syndrome. The strongest predictors of adverse outcomes are MRI and the presence of angiomas involving any part of the forehead, delineated inferiorly from the outer canthus of the eye to the top of the ear, and including the upper eyelid.  The neurological course may be progressive and the typical constellation of symptoms is focal onset seizures, hemiparesis, headache, stroke-like episodes, behavior problems, intellectual disability, and visual field deficits. Antiseizure medications are effective in about half of patients. The presence of localized seizures, focal neurological deficits, and drug resistant epilepsy indicate epilepsy surgical evaluation. Earlier seizure onset, i.e. before six months of age, is associated with a more severe course with significant residual deficits. Factors contributing to epileptogenesis include decreased brain tissue perfusion due to abnormal venous drainage, anoxic injury contributing to cerebral calcification, breakdown of the blood-brain barrier, and the presence of developmental cortical malformations. Pre-symptomatic prophylactic treatment may be a future option to modify the course of the disease including the associated epileptogenesis.

  7. Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.

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    Buoni, S; Zannolli, R; de Santi, M; Macucci, F; Hayek, J; Orsi, A; Scarinci, R; Buscalferri, A; Cuccia, A; Zappella, M; Miracco, C

    2006-08-01

    We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments.

  8. Multidisciplinary approach for evaluation of neurocutaneous ...

    African Journals Online (AJOL)

    Abdelrahim A. Sadek

    2015-03-05

    Mar 5, 2015 ... Abstract Background: Neurocutaneous syndromes (NCS) are a broad term for a group of neuro- logic disorders that involve the nervous system and the skin. The most common examples are neu- rofibromatosis type 1 (NF-1) and type 2 (NF-2), tuberous sclerosis (TS), Sturge–Weber syndrome. (SWS) ...

  9. INCIDENCE AND CLINICOPATHOLOGICAL FEATURES OF NEUROCUTANEOUS DISORDERS

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    S. Kayalvizhi Money

    2017-08-01

    Full Text Available BACKGROUND Neurocutaneous disorders are genetically determined disorders showing both cutaneous and neurologic involvement. The definition includes both hereditary and non-hereditary phenotypes, but excludes acquired disorders. Either they follow the established Mendelian modes of inheritance or they represent lethal mutations surviving by mosaicism or they belong to the group of chromosomal disorders. MATERIALS AND METHODS This study was conducted at the Department of Dermatology, Government KAPV Medical College, Trichy, for a period of 12 months from January 2016 to December 2016. Patients were selected among those attending the outpatient department with signs and symptoms pertaining to neurocutaneous syndromes. Preliminary information like age, sex, educational qualification, present and past illness, family history elicited. Dermatological examination consisted of thorough screening of patients to detect the cutaneous markers for neurocutaneous disorders. A detailed systemic examination was done, particularly central nervous system. RESULTS In this study, neurofibromatosis (68.8% topped the list followed by tuberous sclerosis complex (18.3% and other rarer disorders like xeroderma pigmentosum (2.7%, giant congenital melanocytic naevus (1.8%, Sturge-Weber syndrome (0.9%, Waardenburg syndrome (1.8%, epidermal naevus syndrome (1.8%, naevus comedonicus (0.9%, Elejalde syndrome (0.9%, oculocutaneous albinism (0.9% and Adams-Oliver syndrome (0.9%. CONCLUSION In this study of 109 cases of neurocutaneous syndromes, neurofibromatosis topped the list followed by tuberous sclerosis complex. Classical features of xeroderma pigmentosum was observed in 1 patient. Sturge-Weber syndrome with unilateral port wine stain with seizures was reported in our study. Two cases of Waardenburg syndrome, epidermal nevus syndrome and giant congenital melanocytic nevus were reported in my study. One case of unilateral nevus comedonicus, Elejalde syndrome, oculocutaneous

  10. Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant

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    Mahgoub, Shaza Mohamed; Yassin, Rehab Omer; Osman, Atika Mohamed

    2013-01-01

    Dandy-Walker Malformation (DWM) is a rare congenital malformation of the brain. It is characterized by cystic enlargement of the fourth ventricle which is communicating with an enlarged posterior fossa, cerebellar dysgenesis, high tentorial insertion and hydrocephalus. Neurocutaneous Melanosis (NCM) is a congenital neurocutaneous syndrome characterized by large or multiple melanocytic nevi and benign or malignant melanocytic tumors of the leptomeninges. We report three months old boy who presented with projectile vomiting associated with a noticeable increase in head size. Several congenital nevi were seen all over his body with evident signs of hydrocephalus. The association of DWM and NCM is a rare complex, and to our knowledge, this is the eleventh case to be reported in the literature. In this article, we discuss the proposed pathogenesis, classification and management of the condition. PMID:27493376

  11. COURSE PECULIARITIES OF NEUROCUTANEOUS MELANOSIS IN CHILDREN

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    Tatyana M. Prygunova

    2016-01-01

    Full Text Available Neurocutaneous melanosis is part of a group of hereditary diseases characterized by large and/or multiple pigmented nevi, melanosis or melanoma of the pia mater, with no evidence of malignant skin lesions and involvement of other organs. The disease was described over 150 years ago, but its pathogenesis has not been studied yet, and treatment methods have not been developed yet. Different disease courses due to the pronounced polymorphism of clinical symptoms complicate the diagnosis, and the low efficacy of the symptomatic treatment worsens the disease prognosis. The article describes the experience of managing children with phakomatoses not similar to each other neither in debut and course nor in response to the therapy and prognosis. Early diagnosis of neurocutaneous melanosis in children allows to carry out timely symptomatic treatment and dynamical monitoring, and to improve the survival of patients.

  12. Multidisciplinary approach for evaluation of neurocutaneous ...

    African Journals Online (AJOL)

    Multidisciplinary approach for evaluation of neurocutaneous disorders in children in Sohag University Hospital, Upper Egypt. ... rhabdomyoma. Conclusion: Neurocutaneous disorders had multiple clinical presentations and required a team work approach including various specialties in their evaluation and management.

  13. Hypomelanosis of Ito: Case report of a rare neurocutaneous ...

    African Journals Online (AJOL)

    2015-03-26

    Mar 26, 2015 ... hamartoma in the frontal lobe. Discussion. Hypomelanosis of Ito (HI) is a sporadic neurocutaneous disorder characterized cutaneously by hypopigmented skin lesions arranged in whorls or streaks along the lines of Blaschko1. The lines of Blaschko are relatively con- sistent and distinct from dermatomal ...

  14. MR imaging of symptomatic neurocutaneous melanosis in children

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    Byrd, S.E. [Div. of Neuroimaging, Dept. of Radiology, Children`s Memorial Hospital and Northwestern Medical School, Chicago, IL (United States); Darling, C.F. [Div. of Neuroimaging, Dept. of Radiology, Children`s Memorial Hospital and Northwestern Medical School, Chicago, IL (United States); Tomita, T. [Div. of Pediatric Neurosurgery, Dept. of Surgery, Children`s Memorial Hospital and Northwestern Medical School, Chicago, IL (United States); Chou, P. [Dept. of Pathology, Children`s Memorial Hospital and Northwestern Medical School, Chicago, IL (United States); De Leon, G.A. [Dept. of Pathology, Children`s Memorial Hospital and Northwestern Medical School, Chicago, IL (United States); Radkowski, M.A. [Div. of Neuroimaging, Dept. of Radiology, Children`s Memorial Hospital and Northwestern Medical School, Chicago, IL (United States)

    1997-01-01

    Neurocutaneous melanosis is a syndrome consisting of cutaneous nevi and melanocytosis of the leptomeninges. Over a 5-year period (1989-1994) we evaluated with MR imaging the central nervous system of five children with a confirmed histologic diagnosis of neurocutaneous melanosis. The children ranged in age from 7 to 10 years and consisted of two girls and three boys. They all had multiple pigmented skin lesions (cutaneous nevi) and presented with seizures, signs of raised intracranial pressure, cranial nerve palsies and/or myelopathy. The MR studies were performed with T1-weighted, T2-weighted and T1-weighted post-gadolinium images of the brain in addition to T1-weighted post-gadolinium images of the entire spine. The MR findings in all the children consisted of marked, diffuse enhancement of thickened leptomeninges surrounding the brain and spinal cord which was only demonstrated on the post-gadolinium T1-weighted images and mild to moderate hydrocephalus. We present our MR findings and compare these findings with other imaging findings in the literature. Our findings represent part of a spectrum of imaging abnormalities seen in patients with neurocutaneous melanosis. (orig.). With 6 figs., 1 tab.

  15. Neurocutaneous melanosis in association with dandy-walker complex with extensive intracerebral and spinal cord involvement.

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    Sung, Kyoung-Su; Song, Young-Jin

    2014-07-01

    Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

  16. Parenchymal Neurocutaneous Melanosis in Association with Intraventricular Dermoid and Dandy-Walker Variant: A Case Report

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    Won, Yoo Dong; Kim, Ki Tae; Chang, Eun Deok; Huh, Pil Woo

    2006-01-01

    Neurocutaneous melanosis (NCM) is a rare congenital disease that is characterized by the presence of large or multiple congenital melanocytic nevi and melanotic lesions of the central nervous system. We report here on the CT and MR imaging findings of an unusual case of NCM that was associated with intraventricular dermoid and Dandy-Walker malformation. PMID:16799276

  17. Parenchymal neurocutaneous melanosis in association with intraventricular dermoid and Dandy-walker variant: a case report

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    Kim, Young Joo; Won, Yoo Dong; Kim, Ki Tae; Chang, Eun Deok; Huh, Pil Woo [The Catholic University of Korea, College of Medicine, Uijongbu (Korea, Republic of)

    2006-06-15

    Neurocutaneous melanosis (NCM) is a rare congenital disease that is characterized by the presence of large or multiple congenital melanocytic nevi and melanotic lesions of the central nervous system. We report here on the CT and MR imaging findings of an unusual case of NCM that was associated with intraventricular dermoid and Dandy-Walker malformation.

  18. Neurocutaneous melanosis: radiological-pathological correlation

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    Peretti-Viton, P.; Gorincour, G.; Lambot, K.; Brunel, H.; Raybaud, C. [Department of Neuroradiology, La Timone Hospital, Marseille (France); Feuillet, L.; Cherif, Ali A. [Department of Neurology, La Timone Hospital, Marseille (France); Pellissier, J.F. [Department of Neuropathology, La Timone Hospital, Marseille (France)

    2002-06-01

    We report the case of a young patient with neurocutaneous melanosis (NCM) who presented with temporary aphasia and right hemiparesis followed by progressive coma and death. To our knowledge, this is the first case of this disease examined by CT, MRI, angiography and in which an autopsy was performed to assert the diagnosis with histology. Besides, we discuss differential diagnoses and interest of MRI for early diagnosis. (orig.)

  19. An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report.

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    Rai, Santosh; Kalakoti, Piyush; Syed, Mm Aarif; Thacker, Purujit J; Jain, Rishi; Kalra, Gaurav

    2011-07-01

    Congenital melanocytic nevi are among the several known risk factors for the development of melanoma. Neurocutaneous melanosis is a rare, congenital, non-hereditary disorder characterized by the presence of multiple and/or giant congenital melanocytic nevi. It is a rare condition, with fewer than 200 cases reported in the literature. Its association with tuberous sclerosis complex, a form of the neurocutaneous syndrome, is an unusual finding which, to the best of our knowledge, has not been documented in the English literature so far. Herein we present the first case documenting such an association in a 16-year-old post-pubertal Indian girl. In this report, we describe the case of a 16-year-old Indian girl who presented to our hospital with swelling on the scalp which had progressed from the hairline to just above the left brow, causing mechanical ptosis. She was born with a black-pigmented triangular patch covered with hair over the scalp which had increased in size over a period of eight years after birth. An X-ray of her skull and ultrasonography revealed soft tissue swelling in the left temporofrontoparietal region. Magnetic resonance imaging of her brain showed the presence of 8.99 cm × 2.26 cm abnormal signal intensity involving the scalp, a few small tubers with cortical dysplasia in the left frontoparietal region with asymmetric dilatation, and the presence of calcified subependymal nodules within the left lateral ventricle. These findings were suggestive of tuberous sclerosis. A histopathological examination of the swelling was suggestive of congenital melanocytic nevi. The patient underwent surgery. Excision of the tumor with primary skin grafting was done, with the graft being taken from the medial aspect of the right thigh. This case warrants further research to provide concrete evidence of an association of neurocutaneous melanoma with tuberous sclerosis complex. Research should be conducted to prove whether this is an unusual association or a new

  20. An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report

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    Thacker Purujit J

    2011-07-01

    Full Text Available Abstract Introduction Congenital melanocytic nevi are among the several known risk factors for the development of melanoma. Neurocutaneous melanosis is a rare, congenital, non-hereditary disorder characterized by the presence of multiple and/or giant congenital melanocytic nevi. It is a rare condition, with fewer than 200 cases reported in the literature. Its association with tuberous sclerosis complex, a form of the neurocutaneous syndrome, is an unusual finding which, to the best of our knowledge, has not been documented in the English literature so far. Herein we present the first case documenting such an association in a 16-year-old post-pubertal Indian girl. Case presentation In this report, we describe the case of a 16-year-old Indian girl who presented to our hospital with swelling on the scalp which had progressed from the hairline to just above the left brow, causing mechanical ptosis. She was born with a black-pigmented triangular patch covered with hair over the scalp which had increased in size over a period of eight years after birth. An X-ray of her skull and ultrasonography revealed soft tissue swelling in the left temporofrontoparietal region. Magnetic resonance imaging of her brain showed the presence of 8.99 cm × 2.26 cm abnormal signal intensity involving the scalp, a few small tubers with cortical dysplasia in the left frontoparietal region with asymmetric dilatation, and the presence of calcified subependymal nodules within the left lateral ventricle. These findings were suggestive of tuberous sclerosis. A histopathological examination of the swelling was suggestive of congenital melanocytic nevi. The patient underwent surgery. Excision of the tumor with primary skin grafting was done, with the graft being taken from the medial aspect of the right thigh. Conclusion This case warrants further research to provide concrete evidence of an association of neurocutaneous melanoma with tuberous sclerosis complex. Research should be

  1. Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome

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    Gokhale N

    2007-01-01

    Full Text Available Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.

  2. A newborn with neurocutaneous melanocytosis and Dandy-Walker malformation.

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    De Cock, Jens; Snauwaert, Julie; Van Rompaey, Walter; Morren, Marie-Anne; Demaerel, Philippe

    2014-03-01

    Neurocutaneous melanocytosis is a rare congenital dysplasia of the neuroectodermal melanocyte precursor cells that leads to proliferation of melanin-producing cells in the skin and leptomeninges. We describe a newborn with a giant congenital melanocytic nevus on his back, buttocks, and thighs. His brain magnetic resonance imaging study revealed bilateral T1 hyperintense lesions in the cerebellum and in the amygdala, hydrocephalus, and a Blake's pouch cyst, consistent with neurocutaneous melanocytosis and Dandy-Walker malformation. Neurocutaneous melanocytosis has a wide clinical spectrum that includes hydrocephalus, epilepsy, cranial nerve palsy, increased intracranial pressure, and sensorimotor deficits. Copyright © 2014. Published by Elsevier Inc.

  3. Epidermal nevus syndrome and dysplatic kidney disease.

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    Azar Nickavar

    2014-08-01

    Full Text Available Epidermal nevus syndrome is a rare congenital disorder, characterized by epidermal nevi and multiple organ involvement. Multicystic kidney disease has been very rarely reported in this syndrome. Here is the report of a boy presented with multiple epidermal nevi, cardiac anomaly, seizure attack, hemi hypertrophy, and multicystic dysplastic kidney complicated with Wilms' tumor. According to this association, it is suggested to search for dysplastic kidney disease in patients with neurocutaneous disorders.

  4. Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn

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    Derinkuyu, Betul E.; Boyunaga, Oznur [Gazi University School of Medicine, Department of Radiology, Division of Pediatric Radiology, Besevler, Ankara (Turkey); Unal, Sezin; Ergenekon, Ebru [Gazi University School of Medicine, Department of Pediatrics, Division of Neonatology, Besevler, Ankara (Turkey); Ucar, Murat [Gazi University School of Medicine, Department of Radiology, Besevler, Ankara (Turkey)

    2015-08-15

    We report a case of a newborn girl with neurocutaneous melanocytosis, hemimegalencephaly and a large ovarian cyst. She also had melanocyte deposition in the filum terminale. The ultrasound and the magnetic resonance imaging findings are discussed. (orig.)

  5. Dandy-Walker Malformation Associated with Neurocutaneous Melanosis

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    Cho, In Yong; Kim, Sung-Hak

    2011-01-01

    Neurocutaneous melanosis associated with Dandy-Walker malformation is a rare dysmorphogenesis that is associated with single or multiple giant pigmented cutaneous nevi and diffuse involvement of the central nervous system. In this article, we present a 2-month-old patient with neurocutaneous melanosis associated with Dandy-Walker malformation. In addition, we reviewed the literature and discussed the pathogenesis based on the preferred hypotheses. PMID:22259699

  6. Atypical Presentation of Sjögren-Larsson Syndrome

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    D. Papathemeli

    2017-01-01

    Full Text Available Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.

  7. Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia.

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    Saricam, Merve Hatun; Tekin, Burak; Unver, Olcay; Ekinci, Gazanfer; Ergun, Tulin

    2015-01-01

    Gómez-López-Hernández syndrome is a rare neurocutaneous disorder characterized by the triad of rhombencephalosynapsis, parietal alopecia, and trigeminal anesthesia. We report a 16-year-old girl with bilateral parietotemporal alopecia in whom cranial magnetic resonance imaging revealed rhombencephalosynapsis, suggesting a diagnosis of Gómez-López-Hernández syndrome. Neurologic examination and neuroimaging may be warranted in select patients with parietal alopecia to exclude this uncommon entity. © 2015 Wiley Periodicals, Inc.

  8. PHACE syndrome in antenatally diagnosed posterior fossa anomaly

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    Seema Pavaman Sindgikar

    2014-01-01

    Full Text Available PHACE is a neurocutaneous syndrome, an acronym to describe patients with facial segmental hemangiomas and other malformations. We describe a newborn antenatally diagnosed to have posterior fossa anomaly and subsequently as PHACE syndrome.

  9. A rare neurocutaneous syndrome and a rare association | Ali ...

    African Journals Online (AJOL)

    Among the many causes of ataxia, Ataxia -telangictasia is an autosomal recessive1, multi system disease affecting the skin, nervous system & immune system. It's prevalence has been estimated at 1 to 2 per 100,000 It is a neurodegenerative disorder2 in which there is progressive cerebellar ataxia, occulocutaneous ...

  10. Parry-Romberg Syndrome Associated with Localized Scleroderma

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    Jelena Maletic

    2010-06-01

    Full Text Available Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma ‘en coup de sabre’. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes associated with brain abnormalities ipsilaterally to the skin lesions. We present a case of Parry-Romberg syndrome with neurological involvement in a patient with diagnosed localized scleroderma (morphea.

  11. Pyogenic Granuloma in a Patient of Sturge-Weber Syndrome with Bilateral Port Wine Stain- A Rare Case Report

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    Shantala Arunkumar

    2014-07-01

    Full Text Available Sturge-Weber syndrome (SWS also known as encephalotrigeminal angiomatosis. It is a neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. An ipsilateral or bilateral facial cutaneous vascular malformation Port Wine Stain (PWS usually affects the upper face. Other clinical manifestations are seizures, glaucoma, hemiparesis, mental retardation and delayed developmental milestones. The main objective of this case report is to unravel such a rarest syndrome with bilateral port-wine stain, which has intraoral manifestation of pyogenic granuloma involving gingiva in an 11 year old boy.

  12. [Application of the tension skin flap with different shapes in the pedicle of the reverse neurocutaneous island flap].

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    Li, Meng; Lan, Xu; Zheng, Ping; Liu, Xing-Yan; Gao, Qiu-Ming; Song, Ming-Jia

    2013-08-01

    To investigate the effects of the tension skin flap with different shapes on the transplantation of the reverse neurocutaneous island flap. From January 2006 to January 2012,there were 21 patients in the study (including 15 males and 6 females), and aged from 14 to 58 years old (35 years old on average). Tension skin flaps with different shapes (triangle ,round and ellipse) were used to improve the blood supply of the reverse neurocutaneous island flap. The tension skin flaps in the pedicle were designed triangularly (10 patients), spherically (8 patients) or elliptically (3 patients). There were 5 patients with defects in the hand (the size from 5.0 cm x 2.0 cm to 8.0 cm x 5.0 cm), and 16 patients with defects in the foot and inferior segment of leg, or around the ankle (the size from 6.0 cm x 4.0 cm to 13.0 cm x 7.0 cm). And all the patients were with the tendon and bone exposed. All the flaps were reversal transplanted, including 5 dorsal neurocutaneous flaps of foot, 4 superficial peroneal neurocutaneous flaps, 4 saphenous neurocutaneous flaps, 3 sural neurocutaneous flaps, 2 superficial radial neurocutaneous flaps, 3 lateral neurocutaneous flaps of forearm. And the survival rate, appearance and sensory recovery of the flaps were analyzed. The distant part of the reversed sural neurocutaneous island flap in 1 case necrosized and healed after dressing change. The other flaps survived entirely, and the donor site all healed primarily. The follow-up time was from 3 months to 2 years (averaged 7 months), and all the flaps had recovered pain and warm sensation with perfect appearance. The tension skin flap in the pedicle can enhance the blood supply and promote survival rate of the reverse neurocutaneous island flap, and can also improve its appearance.

  13. A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

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    Mazhar Müslüm Tuna

    2014-09-01

    Full Text Available Neurofibromatosis (NF Type 1 (NF-1 is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 227-31

  14. Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome.

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    Desai, Soaham Dilip; Vora, Rita; Bharani, Sheela

    2014-01-01

    Garcia-Hafner-Happle syndrome, also known as Fibroblast growth factor receptor 3 epidermal nevus syndrome, is a new neurocutaneous phenotype, which has been identified in 2008 by Garcı'a-Vargas et al. The disorder is caused by a mosaic R248C mutation of the FGFR3 gene, which is characterized by a keratinocytic epidermal nevus, acanthosis nigricans, and neurological abnormalities like seizures, intellectual impairment, cortical atrophy, and underdevelopment of corpus callosum. The epidermal nevus syndromes represent a group of distinct disorders in which an epidermal nevus is associated with abnormalities in other organ systems like central nervous system, cardiovascular system, genitourinary system, eyes, and bone. Recently, nine well-defined different epidermal nevus syndromes (ENSs) have been identified on clinical, histopathologic, and molecular basis. We present here the details of a patient with the clinical features and skin biopsy findings suggestive of Garcia-Hafner-Happle syndrome.

  15. Periodontal Management of Sturge-Weber Syndrome

    Directory of Open Access Journals (Sweden)

    Butchibabu Kalakonda

    2013-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma, and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.

  16. Melanose neurocutânea. Relato de caso com melanoma maligno do sistema nervoso central Neurocutaneous melanosis. Case report of a malignant melanoma of the central nervous system

    Directory of Open Access Journals (Sweden)

    J.M. Juang

    1998-03-01

    Full Text Available A melanose neurocutânea é uma síndrome rara caracterizada por nevos melanocíticos congênitos gigantes e excessiva melanose da leptomeninge. A síndrome parece representar um erro na morfogênese do neuroectoderma embrionário. Os autores apresentam o caso e necropsia de um paciente masculino de 19 anos que desenvolveu melanoma maligno do sistema nervoso central.The neurocutaneous melanosis is a rare syndrome in which the congenital melanocytic nevi and excessive melanosis are the main features. The syndrome seems to be a morphogenesis error of the embryonic neuroectoderm. A clinical case with necroscopy in a 19 year-old man who had developed malign melanoma in his central nervous system is reported.

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

    Science.gov (United States)

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

    2014-10-01

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

  18. Sturge-Weber Syndrome: A Review.

    Science.gov (United States)

    Higueros, E; Roe, E; Granell, E; Baselga, E

    2017-06-01

    Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

    Science.gov (United States)

    Tucci, Arianna; Pezzani, Lidia; Scuvera, Giulietta; Ronzoni, Luisa; Scola, Elisa; Esposito, Susanna; Milani, Donatella

    2017-03-01

    Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed after puberty. First reported in 1893, the syndrome was mainly identified in subjects living in psychiatric institutions, where it was found to have a prevalence of up to 11.4%. Most patients were reported in the literature during the first half of the 20th century. CVG-ID is now a less reported and possibly under-recognized syndrome. Here, we report a patient with CVG-ID that was diagnosed using the novel approach of magnetic resonance imaging and we conduct a systematic review of all patients reported in the last 60 years, discussing the core clinical features of this syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  20. Parry-Romberg syndrome in an elderly male: A rare case report

    Directory of Open Access Journals (Sweden)

    Daljit Singh

    2017-07-01

    Full Text Available Progressive hemifacial atrophy (PHA of the face was first described by Caleb Hillier Parry in 1825 and Moritz Heinrich Romberg in 1846, hence the name Parry Romberg Syndrome was coined. It is a neurocutaneous syndrome characterized by progressive atrophy of the skin and tissues lying underneath like subcutaneous fat, muscle and bone. It is more common in females. Various etiologies have been proposed like autoimmune, hyperactivity of nervous system, infections etc., but none can fully explain its pathogenesis. Here we report a case of Parry-Romberg syndrome in a 70-year-old male which is the oldest case to present with this syndrome to the best of our knowledge.

  1. Morphologic characterization of syndromic gastric polyps.

    Science.gov (United States)

    Lam-Himlin, Dora; Park, Jason Y; Cornish, Toby C; Shi, Chanjuan; Montgomery, Elizabeth

    2010-11-01

    The morphology of gastric hamartomatous polyps from patients with juvenile polyposis syndrome (JuvPS) and Peutz-Jeghers' Syndrome (PJS) is poorly characterized. We investigated the histologic features of gastric polyps in patients with established JuvPS or PJS to develop improved histologic criteria to distinguish these from gastric hyperplastic (HP) polyps. The patients with clinically confirmed hamartomatous polyposis syndromes were identified, including 26 patients with JuvPS (both familial and sporadic) and 17 patients with PJS. All gastric polyps (n=30) from these patients were intermixed with gastric HP polyps from nonsyndromic patients (n=26) and subsequently blindly reviewed by a panel of gastrointestinal pathologists. A consensus diagnosis was rendered. The panel then reviewed the slides in the context of clinical data and identified histologic features for distinguishing JuvPS, PJS, and HP gastric polyps based on epithelial changes, pit architecture, lamina propria features, and smooth muscle qualities. A sleeping period of 6 months lapsed before the same cases were renumbered and blindly rereviewed independently. Diagnoses were then rendered while adhering to the suggested criteria. Cases that the reviewers recalled were discarded from the study (n=8). On initial review, accuracy in diagnosis of gastric polyps in JuvPS was 50% and was 18% in PJS compared with 92% for HP gastric polyps. Adherence to the recommended histologic criteria resulted in diagnostic accuracy of 41% for JuvPS and 54% for PJS, compared with 73% for HP gastric polyps. Accuracy in diagnosis in antral mucosa was 66%, oxyntic mucosa 71%, and transitional-type mucosa (mixed antral and oxyntic) 32%. The diagnostic accuracy based on polyp size was 59% for polyps which were less than equal to 3 mm, 56% for those 4 to 9 mm, and 81% for polyps which were more than equal to 10 mm. The identification of gastric polyps from JuvPS and PJS patients without the context of clinical history of

  2. Sturge Weber Syndrome: review of literature with case illustration

    Directory of Open Access Journals (Sweden)

    Satyarthee Guru Dutta

    2017-03-01

    Full Text Available Sturge-Weber syndrome (SWS also called as encephalotrigeminal angiomatosis, is a sporadically occurring rare neuro-cutaneous syndrome, characterized by vascular malformation with capillary venous angiomas involving face, choroidal layer of eye globe and leptomeninges responsible for ophthamological as well as neurological signs and symptoms. Authors report an interesting case, a six year old girl, who presented with seizures, facial port wine stain and normal psychomotor development. CT scan showed left cerebral hemiatrophy, left frontal and parieto occipital calcification with cortical calcification in left high frontal convexity. Cranial MRI scan also confirmed finding of left cerebral hemiatrophy and also revealed presence of gyriform cortical calcification, prominent flow voids seen in left basal ganglia. Her seizure is well controlled with antiepileptic medication. The pertinent literature is reviewed and management of such cases is discussed briefly.

  3. Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue.

    Science.gov (United States)

    Miyagawa, Yasuhiro; Nakazawa, Mitsuru; Kudoh, Takashi

    2010-01-01

    Epidermal nevus syndrome encompasses a group of congenital neurocutaneous anomalies characterized by epidermal nevi in association with cerebral, ocular, and skeletal abnormalities. We report herein the case of a Japanese girl with epidermal nevus syndrome associated with complex ocular choristoma and discuss the histopathological findings. A mass lesion was noted on the left eyeball of a newborn Japanese girl. The lesion appeared to be a scleral staphyloma. Linear and diffuse acanthoses were also apparent on the face. Skin biopsy revealed an epidermal nevus. Histopathological examination of the enucleated left eyeball demonstrated that extremely thin sclera adjacent to the corneal limbus resulted in anterior staphyloma, and ectopic osteocartilaginous tissues were present in the posterior sclera. Epidermal nevus syndrome associated with complex ocular choristoma was diagnosed. The anterior staphylomatous lesion observed in this case has not been reported previously.

  4. Neurocutaneous melanosis and the Dandy-Walker complex: an uncommon but not so insignificant association.

    Science.gov (United States)

    Marnet, Dominique; Vinchon, Matthieu; Mostofi, Keyvan; Catteau, Benoit; Kerdraon, Olivier; Dhellemmes, Patrick

    2009-12-01

    Neurocutaneous melanosis represents a rare congenital but nonheritable phakomatosis defined as the association of giant or multiple congenital nonmalignant melanocytic nevi with leptomeningeal melanosis or melanoma of the central nervous system. We describe the case of an adolescent with a giant congenital bathing trunk melanocytic nevus who developed progressive intracranial hypertension due to leptomeningeal melanosis confirmed by surgical biopsy. Brain and spine magnetic resonance images showed posterior fossa malformation compatible with the Dandy-Walker complex, hydrocephalus, and extensive enhancement of posterior fossa then spine. Shunt placement, corticotherapy, and chemotherapy were attempted leading to transient relief but the boy died 12 months after the onset of primary neurological symptoms. We discuss diagnosis, pathogenesis, management, and prognosis in the light of data from the recent literature. Neurocutaneous melanosis is considered to follow from neurulation disorders which could account for associated developmental malformations as the so-called Dandy-Walker complex. Cutaneous lesions are usually recognized at birth whereas neurological manifestations develop later. Numerous neurological symptoms have been reported according to extent of leptomeningeal and parenchymal infiltration. Whether magnetic resonance imaging of the neuroaxis represents the choice radiological exam, definite diagnosis relies upon the histological data obtained by mean of biopsy. Once symptomatic, surgical and medical measures remain palliative since death occurs within 3 years.

  5. Characterization of a tailless white spot syndrome virus from ...

    African Journals Online (AJOL)

    Jane

    2011-10-17

    , Yangzhou, China. Accepted 15 July, 2011. In this study, a virus similar to the causative agent of white spot syndrome virus (WSSV) but without tail-like extension was identified and characterized from diseased Penaeus ...

  6. Characterization of a novel porcine stress syndrome

    Science.gov (United States)

    Technical abstract: A novel transportation stress syndrome has been identified in the USMARC swine population. The genetic cause of this stress syndrome has been mapped to the dystrophin gene and a marker that is predictive in the USMARC population developed. To determine if this genetic defect is a...

  7. Sjogren-Larsson syndrome: 2 case reports

    NARCIS (Netherlands)

    Galoin-Bertail, C.; Ogier de Baulny, H.; Wanders, R.; Schiff, M.; Bellavoine, V.; Mlika, A.; Benoist, G.; Baruteau, J.

    2012-01-01

    Sjogren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes. The main features of the disease are its association

  8. The versatile reverse flow sural artery neurocutaneous flap: A case series and review of literature

    Directory of Open Access Journals (Sweden)

    Fok Margaret

    2008-04-01

    Full Text Available Abstract Background Reverse flow sural neurocutaneous flap has been utilized more frequently during the past decade to cover vital structures around the foot and ankle area. The potential advantages are the relatively constant blood supply, ease of elevation and preservation of major vascular trunks in the leg. The potential disadvantages remain venous congestion, donor site morbidity and lack of sensation. Methods This descriptive case series was conducted at Queen Mary Hospital, Hong Kong, from 1997 to 2003. Ten patients having undergone reverse flow sural neurocutaneous flap were identified through medical records. There were six females (60% and four males (40%, with an average age of 59.8 years. The defects occurred as a result of trauma in five patients (50%, diabetic ulcers in four (40% and decubitus ulcer in one (10% paraplegic patient. The defect site included non weight bearing heel in four (40%, tendo Achilles in two (20%, distal tibia in two (20%, lateral malleolus in one (10% and medial aspect of the midfoot in one patient (10%. The maximum flap size harvested was 14 × 6 cm. Preoperative doppler evaluation was performed in all patients to identify perforators and modified plaster of paris boot was used in the post operative period. A detailed questionnaire was developed addressing variables of interest. Results There was no flap failure. Venous congestion was encountered in one case. The donor site was relatively unsightly but acceptable to all patients. The loss of sensation in the sural nerve distribution was transient in all patients. Conclusion Reverse sural artery flap remains to be the workhorse flap to resurface the soft tissue defects of the foot and ankle. Anastomosis of the sural nerve to the digital plantar nerve can potentially solve the issue of lack of sensation in the flap especially when used for weight bearing heel.

  9. Drug-induced TINU syndrome and genetic characterization.

    Science.gov (United States)

    Santoro, Domenico; Vita, Giuseppe; Rovito, Stefania; Venuto, Lucia; Cavallari, Vittorio; Vita, Roberto; Savica, Vincenzo; Bellinghieri, Guido; Gangemi, Sebastiano

    2012-09-01

    Tubulointerstitial nephritis and uveitis (TINU) syndrome is due to a disregulation of cell-mediated immunity and genetical predisposition due a particular molecular characterization. We report the case of a 50-year-old woman who was admitted for acute renal failure. She had recently taken flurbiprofen for 10 d for recurrent bronchitis. A renal biopsy revealed acute tubulointerstitial nephritis. Prednisone was started and prognosis was favorable. Three months later the patient developed transitory blurred vision. The diagnosis was bilateral uveitis and she received topic and systemic corticosteroid therapy, with resolution of ocular symptoms. Recurrent episodes of uveitis experienced during the next 12 months were treated with same therapy. Genomic haplotype in our patients was HLA A*0278/2631,-B*1517/3802,- Cw*0701/1202, -DRB1*0101/1359 (DRB3* 52), -DQA1*0102/0102, DQB1*0603/0603. TINU syndrome is characterized by tubulointerstitial nephritis that tends to be selflimiting, whereas uveitis tends to relapse. HLA-DQA1*01 and -DQB1*06 haplotypes are strongly associated with TINU syndrome. This is the first report of TINU syndrome induced by flubiprofen intake. Our case emphasizes the importance of the association between drug exposure and strong susceptibility to TINU syndrome giving the molecular characterization.

  10. Dressler Syndrome is Characterized by Massive Hemoptysis

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan

    2016-01-01

    Full Text Available A 63-year-old man was admitted with signs of dyspnea, pleuritic chest pain, fever, leukocytosis, high sedimentation rate, increase on C-reactive protein level, pleural effusion 2 weeks after coronary artery bypass surgery. According to the clinic and laboratory findings, Dressler syndrome diagnosed by the exclusion of pulmonary embolism, pneumonia, congestive heart failure and coronary artery bypass surgery complications. Massive hemoptysis was thought to be a result of local inflammatory reaction triggered by the immune activation and pleura, pericardium and vascular structures.

  11. Encephalocraniocutaneous lipomatosis (Haberland syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Kalyan Koti

    2013-01-01

    Full Text Available Encephalocraniocutaneous lipomatosis (ECCL is a rare sporadic neurocutaneous syndrome characterized by presence of central nervous system, ocular and cutaneous anomalies. The exact pathogenesis is still not known. We present the third case from the Indian subcontinent, who is a five year old girl with history of right sided seizures. Dermatological examination showed alopecia on right side of the scalp and ipsilateral limbal dermoid and nodular skin tags over the upper eyelid. The computerized tomography scan of the brain revealed porencephalic cyst, cerebral calcifications and atrophy of right brain. The histopathology of the skin lesions showed lipomatous hamartoma and features of non scarring alopecia. The constellation of these findings and in adherence to the diagnostic criteria of ECCL proposed in 2009, we consider this report as a definite case of ECCL.

  12. Molecular characterization of Blau syndrome: Genetic linkage to chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Tromp, G.; Duivaniemi, H.; Christiano, A. [Thomas Jefferson Univ., Philadelphia, PA (United States)] [and others

    1994-09-01

    The Blau syndrome is an autosomal, dominantly-inherited disease characterized by multi-organ, tissue-specific inflammation. Its clinical phenotype includes granulomatous uveitis, arthritis and skin rash. The syndrome is unique in that it is the sole human model for a variety of multi-system inflammatory diseases that afflict a significant percentage of the population. Karyotypic analysis of the large, three generation kindred whose disease originally characterized the syndrome was unremarkable. Following exclusion of a number of extracellular matrix candidates genes, a genome-wide search was undertaken of the Blau susceptibility locus. Fifty-seven members of the family were genotyped for about 200 highly polymorphic dinucleotide repeat markers. Linkage analysis was performed using the LINKAGE package of programs under a model of dominant inheritance with reduced penetrance. Five liability classes were used to specify penetrances and phenocopy rates for those affected the arthritis, uveitis, skin rash and combinations thererof. In addition, five age-dependent penetrance classes were used for unaffected individuals. The marker D16S298 gave a maximum lod score of 3.6 at {theta} = 0.05 with two-point analysis. Lod scores for flanking markers were consistent. These data provide convincing evidence that the Blau susceptibility locus is situated within the 16p12-q21 interval. Fine mapping of the candidate interval with additional families exhibiting the Blau phenotype, as well as with more polymorphic markers, is underway.

  13. Molecular and cytogenetic characterization of del(9p) syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Micale, M.A.; Haren, J.M.; Schwartz, S. [Case Western Reserve Univ. School of Medicine, Cleveland, OH (United States)] [and others

    1994-09-01

    The del(9p) syndrome is characterized by mental retardation, trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, a long philtrum, and is typically associated with a breakpoint at 9p22. Seventeen unrelated patients with del(9p) and their parents were analyzed by high resolution chromosome studies, molecular analysis using a series of highly polymorphic dinucleotide repeat markers for 9p, and fluorescence in situ hybridization (FISH) to characterize precisely the extent of chromosome loss. Eleven patients were found to have an interstitial deletion with breakpoints assigned to 9p22.1 and 9p24.3 in most cases. Two patients had familial unbalanced translocations of maternal origin and four had de novo complex rearrangements identified by high resolution analysis and FISH utilizing chromosome libraries. PCR analysis of eleven families with eight minisatellite markers determined paternal origin of the deletion in six cases and maternal origin in five. This suggests that the molecular event resulting in the deletion is equally prevalent in both male and female gametogenesis and that genomic imprinting does not play a role in the pathogenesis of del(9p) syndrome. Increased precision in mapping these minisatellite markers was also possible through this work. This study demonstrates the existence of molecular heterogeneity as six patients with a cytological breakpoint at 9p22.1 revealed three different molecular breakpoints. These findings suggest that genotype-phenotype correlations in deletion syndromes such as this should be based on high-resolution molecular analysis of the deleted chromosome segment. Work is in progress to map a series of cosmid probes by FISH relative to chromosomal breakpoints in these patients. These combined studies should provide a better understanding of the mechanisms involved in the pathogenesis of del(9p) syndrome and may identify loci where genes responsible for one or more aspects of the del(9p) phenotype may reside.

  14. Clinical and molecular characterization of patients with Jacobsen syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  15. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome.

    Science.gov (United States)

    Shaco-Levy, Ruthy; Jasperson, Kory W; Martin, Katie; Samadder, N Jewel; Burt, Randall W; Ying, Jian; Bronner, Mary P

    2016-03-01

    The morphologic features of the gastrointestinal polyps in hamartomatous polyposis syndromes are poorly defined. Our aim was to better characterize the gastrointestinal hamartomas in these syndromes. A blinded review was performed regarding many histologic features for every polyp. The study included 15 Cowden syndrome, 13 Peutz-Jeghers (PJS), 12 juvenile polyposis (JuvPS) patients, and 32 cases of sporadic hamartomatous polyps. A total of 375 polyps were examined. Cowden syndrome polyps were characteristically colonic, sessile, small, without surface erosion, and showing mildly inflamed fibrotic lamina propria with smooth muscle proliferation and lymphoid follicles. They showed the least degree of cystic glands and had no thick mucin. Uncommon but specific features were ganglion cells and nerve fibers within the lamina propria and mucosal fat. PJS polyps were typically of small or large bowel origin, often exophytic, seldom eroded, with inflamed edematous and fibrotic lamina propria and dilated cystic glands filled with often thick mucin. All PJS polyps showed smooth muscle proliferation, frequently widespread. The polyps of JuvPS were typically colonic, large, exophytic, eroded, with strikingly edematous, fibrotic markedly inflamed lamina propria, cystic glands filled with frequently thick mucin, and the least degree of smooth muscle proliferation. Nonsyndromic hamartomatous polyps were similar to JuvPS polyps; however, they were more often colonic, were smaller, showed more widespread smooth muscle proliferation, and were less likely to contain thick mucin. In conclusion, we were able to define the characteristic hamartomatous polyp for each hamartomatous polyposis syndrome. Awareness to these features may aid in the diagnosis of these rare syndromes. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. A Novel Approach for Reconstruction of Finger Neurocutaneous Defect: A Sensory Reverse Dorsal Digital Artery Flap from the Neighboring Digit.

    Science.gov (United States)

    Feng, Shi-Ming; Sun, Qing-Qing; Cheng, Jian; Wang, Ai-Guo

    2017-11-01

    Providing soft tissue coverage for finger neurocutaneous defects presents aesthetic and sensory challenges. A common source for reconstruction of soft tissue defects of the fingers is the same finger. However, when the donor areas are damaged by concomitant injuries, this option is not available. The present study aims to reconstruct finger neurocutaneous defects using a sensory reverse dorsal digital artery flap from the neighboring digit and to evaluate the efficacy of this technique. The study included 16 patients, with an average age of 34.9 years (range, 20-53 years) at the time of surgery, from May 2010 to June 2013. The sensory reverse dorsal digital artery flap was used in all 16 patients, who had a combination of soft tissue and digital nerve defects. The mean size of the soft tissue defects was 3.1 cm × 2.0 cm, and the mean flap size was 3.3 cm × 2.2 cm. The length of the nerve defects ranged from 1.3 to 2.5 cm (mean, 2.0 cm), which were reconstructed with dorsal branches of the proper digital nerve transfer. The active motion of the fingers (injured and donor) and the flap sensibility (static two-point discrimination) were measured. The appearance and functional recovery of the injured finger and the donor site were assessed using the Michigan Hand Outcomes Questionnaire. All flaps survived completely. No complications were reported, and no further flap debulking procedure was required. At the mean follow-up period of 24 months (range, 18-30 months), the mean static two-point discrimination was 6.5 mm (range, 5-10 mm) of the reconstructed area; the mean ranges of motions of the injured finger and the opposite finger at the proximal interphalangeal and distal interphalangeal joints were 102.2° and 103.5°, and 70.3° and 76.5°, respectively. The average ranges of motions of the metacarpophalangeal and proximal interphalangeal joints of the donor fingers were 90° and 103.4°, respectively. Based on the Michigan Hand Outcomes Questionnaire, 10 patients

  17. Characterizing the musical phenotype in individuals with Williams Syndrome.

    Science.gov (United States)

    Levitin, Daniel J; Cole, Kristen; Chiles, Michael; Lai, Zona; Lincoln, Alan; Bellugi, Ursula

    2004-12-01

    Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial impairments in cognitive domains such as reasoning, arithmetic ability, and spatial cognition, alongside relatively preserved skills in social domains, face processing, language, and music. We report the results of a comprehensive survey on musical behaviors and background administered to the largest sample of individuals with WS to date (n = 118, mean age = 20.4), and compare the results to those obtained from a control group of typically developing normal individuals (n = 118, mean age = 20.9) and two groups of individuals with other neurodevelopmental genetic disorders, Autism (n = 30, mean age = 18.2) and Down Syndrome (n = 40, mean age = 17.2). Individuals with WS were found to be rated higher in musical accomplishment, engagement, and interest than either of the comparison groups, and equivalent on most measures to the control group. Compared to all other groups including the controls, the WS individuals displayed greater emotional responses to music, manifested interest in music at an earlier age, and spent more hours per week listening to music. In addition, the effects of music listening (whether positive or negative) tended to last longer in the WS group. A factor analysis extracted seven principal components that characterize the musical phenotype in our sample, and discriminant function analysis of those factors was able to successfully predict group membership for the majority of cases. We discuss the neurobiological implications of these findings.

  18. Distally based saphenous neurocutaneous perforator flap combined with vac therapy for soft tissue reconstruction and hardware salvage in the lower extremities.

    Science.gov (United States)

    Wen, Gen; Wang, Chun-Yang; Chai, Yi-Min; Cheng, Liang; Chen, Ming; Yi-Min, L V

    2013-11-01

    The complex wound with the exposed hardware and infection is one of the common complications after the internal fixation of the tibia fracture. The salvage of hardware and reconstruction of soft tissue defect remain challenging. In this report, we presented our experience on the use of the distally based saphenous neurocutaneous perforator flap combined with vacuum-assisted closure (VAC) therapy for the coverage of the soft tissue defect and the exposed hardware in the lower extremity with fracture. Between January 2008 and July 2010, seven patients underwent the VAC therapy followed by transferring a reversed saphenous neurocutaneous perforator flap for reconstruction of the wound with exposed hardware around the distal tibia. The sizes of the flaps ranged from 6 × 3 cm to 15 × 6 cm. Six flaps survived completely. Partial necrosis occurred in one patient. There were no other complications of repair and donor sites. Bone healing was achieved in all patients. In conclusion, the reversed saphenous neurocutaneous perfortor flaps combined with the VAC therapy might be one of the options to cover the complex wound with exposed hardware in the lower extremities. © 2013 Wiley Periodicals, Inc.

  19. Characterizing a neurodegenerative syndrome: primary progressive apraxia of speech.

    Science.gov (United States)

    Josephs, Keith A; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Senjem, Matthew L; Master, Ankit V; Lowe, Val J; Jack, Clifford R; Whitwell, Jennifer L

    2012-05-01

    and increased mean diffusivity of the superior longitudinal fasciculus, particularly the premotor components. Statistical parametric mapping of the [(18)F]-fluorodeoxyglucose positron emission tomography scans revealed focal hypometabolism of superior lateral premotor cortex and supplementary motor area, although there was some variability across subjects noted with CortexID analysis. [(11)C]-Pittsburg compound B positron emission tomography binding was increased in only one of the 12 subjects, although it was unclear whether the increase was actually related to the primary progressive apraxia of speech. A syndrome characterized by progressive pure apraxia of speech clearly exists, with a neuroanatomic correlate of superior lateral premotor and supplementary motor atrophy, making this syndrome distinct from primary progressive aphasia.

  20. MRI characterization of the glenohumeral joint in Apert syndrome

    Energy Technology Data Exchange (ETDEWEB)

    McHugh, Tami [University of Illinois-Chicago, Department of Radiology, Chicago, IL (United States); Wyers, Mary [Children' s Memorial Hospital, Department of Medical Imaging, Children' s Plaza, Box 9, Chicago, IL (United States); King, Erik [Children' s Memorial Hospital, Orthopaedic Surgery, Chicago, IL (United States)

    2007-06-15

    The features of craniosynostosis, facial dysmorphism, and distal extremity syndactyly in Apert syndrome are well known. However, there have been limited descriptions of the associated glenohumeral joint findings. We report the radiographic and MRI abnormalities of the glenohumeral joints in a 10-month-old girl with Apert syndrome. The MRI findings in the girl support the hypothesis that the pathogenesis of Apert syndrome is caused by defective cartilage segmentation with premature and abnormal ossification of a cartilage bar within a joint space. The resultant shoulder joint deformity is related to glenoid hypoplasia and growth arrest of the medial aspect of the humeral head. (orig.)

  1. Clinical characterization of the HOXA1 syndrome BSAS variant

    Science.gov (United States)

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

    2010-01-01

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

  2. Adults with Down syndrome: characterization of a Portuguese sample.

    Science.gov (United States)

    Breia, Paula; Mendes, Rosário; Silvestre, Ana; Gonçalves, Maria Joao; Figueira, Maria Joao; Bispo, Regina

    2014-01-01

    Down syndrome or Trisomy 21 affects physical, behavioral and cognitive development. Ageing people with Down syndrome may suffer from several comorbidities that interfere with their daily life. To analyze in a sample of adults with Down syndrome the presence of common medical diseases, regular use of medication, possible cognitive impairment and oral communication skills. The socio-demographic and clinical data of 209 Portuguese adults (20-58 years) with Down syndrome were collected. Twenty-six subjects were assessed with the WAIS-III. Data was statistically analyzed--SPSS (v.19). Almost half (47.36%) of the sample suffers from comorbidities, with cardiac, psychiatric, epilepsy and hypothyroidism ranked as the most prevalent diseases. Seventy-two patients (34.45%) take medication that acts on the central nervous system. The WAIS-III results revealed IQ scores between 45-61 (mean = 49.65, SD = 4.93) and 141 individuals (67.5%) who can express themselves through basic oral language. In line with other studies, these individuals are vulnerable to various comorbidities. Most have basic oral language, but the IQ values are in the 'extremely low' range, with better performance on verbal tasks. The cognitive constraints and communication difficulties in the population with Down syndrome may difficult the early clinical recognition of comorbidities associated with ageing. The identification of new semiology, with caregiver support, is essential to ensure that appropriate care is provided to this population.

  3. Cytogenetic characterization of cat eye syndrome marker chromosome.

    Science.gov (United States)

    Wenger, S L; Surti, U; Nwokoro, N A; Steele, M W

    1994-01-01

    Cat eye syndrome is associated with a partial tetrasomy 22q and can be inherited. The authors have evaluated the marker chromosome in a proband and his mother by cytogenetic banding techniques to verify the dicentric chromosomal rearrangement and by fluorescence in situ hybridization to confirm the involvement of 22. The mother also had an affected offspring with an unrelated aneuploidy, trisomy 21.

  4. Characterization of thrombosis in patients with Proteus syndrome.

    Science.gov (United States)

    Keppler-Noreuil, Kim M; Lozier, Jay N; Sapp, Julie C; Biesecker, Leslie G

    2017-09-01

    Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism. Of the remaining 47 living patients, six had thromboembolic events that all occurred postoperatively and in an affected limb. Eleven of 21 patients had an abnormal hypercoagulable panel including Factor V Leiden heterozygotes, antithrombin III deficiency, positive lupus anticoagulant, or Protein C or S deficiencies. We observed that eight of 17 patients had an abnormal D-dimer level >0.5 mcg/dl, but deep venous thromboses occurred in only four of those with D-dimer >1.0 mcg/dl. We conclude that the predisposition to thrombosis is likely to be multifaceted with risk factors including vascular malformations, immobility, surgery, additional prothrombotic factors, and possible pathophysiologic effects of the somatic AKT1 mutation on platelet function or the vascular endothelium. The D-dimer test is useful as a screen for thromboembolism, although the screening threshold may need to be adjusted for patients with this disorder. We propose developing a registry to collect D-dimer and outcome data to facilitate adjustment of the D-dimer threshold for Proteus syndrome and related disorders, including PIK3CA-Related Overgrowth Spectrum. © 2017 Wiley Periodicals, Inc.

  5. Rare variant of misme syndrome – a case report with review of literature

    Directory of Open Access Journals (Sweden)

    Dwivedi Ashish Kumar

    2016-09-01

    Full Text Available MISME syndrome, also known as neurofibromatosis type-2 (NF2, stands for multiple inherited schwannomas, meningiomas, and ependymomas (MISME in the peripheral and central nervous system. It is a rare disorder of autosomal dominant inheritance due to mutations of a tumor-suppressor gene on the chromosome 22q12. Clinically, it is characterized by multiple benign tumors arising in both the central and the peripheral nervous system, particularly from the bilateral vestibular nerve in more than 90% of the patients and more than two thirds of them develop spinal tumors. Simultaneous occurrence of bilateral vestibular schwanoma with cervical and lumbar ependymoma without neuro cutaneous marker with weakness of limb as initial presentation is rare finding in single patient. Here, we are reporting a rare case of MISME syndrome harbouring bilateral vestibular schwanoma with cervical and lumbar ependymoma tumors in a 45 year old male patient having no other lesion and neurocutaneous marker with weakness of limb as initial presentation without posterior subcapsular cataract.

  6. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome.

    Science.gov (United States)

    Fernández-Ibieta, María; López-Gutiérrez, Juan Carlos

    2015-01-01

    PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe) are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome) that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients' hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon.

  7. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome

    Directory of Open Access Journals (Sweden)

    María Fernández-Ibieta

    2015-01-01

    Full Text Available PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients’ hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon.

  8. Neurocutaneous melanocytosis presenting in a teenager: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    I Monica

    2015-01-01

    Full Text Available Neuro cutaneous melanocytosis (NCM is a non-familial, congenital disorder characterized by multiple congenital nevi and brain or leptomeningeal abnormal melanin deposits. Here, we present an adult onset NCM. A 17-year-old boy presented with headache and double vision for 1 month. Magnetic resonance imaging of the brain showed hydrocephalus and abnormal meningeal hyper intensities in supra and infratentorial regions predominantly in the posterior fossa. Para medullary region showed an 11 × 10 mm nodular contrast enhancing nodule. Resection of an intramedullary central nervous system lesion revealed melanoma while skin biopsy was benign melanocytic nevus. As per Kadonaga and Frieden criteria, a diagnosis of NCM was made. Planned for craniospinal irradiation by three-dimensional conformal radiotherapy with a dose of 36 Gy, in 18 fractions (2 Gy/fraction and 5 days in a week along with steroids however patient progressed and developed quadriplegia with intradural metastasis.

  9. Neurocutaneous melanocytosis presenting in a teenager: A case report and review of the literature.

    Science.gov (United States)

    Monica, I; Kumar, L Pavan; Uppin, Megha S; Jagannath Rao Naidu, Kotiyala V

    2015-01-01

    Neuro cutaneous melanocytosis (NCM) is a non-familial, congenital disorder characterized by multiple congenital nevi and brain or leptomeningeal abnormal melanin deposits. Here, we present an adult onset NCM. A 17-year-old boy presented with headache and double vision for 1 month. Magnetic resonance imaging of the brain showed hydrocephalus and abnormal meningeal hyper intensities in supra and infratentorial regions predominantly in the posterior fossa. Para medullary region showed an 11×10 mm nodular contrast enhancing nodule. Resection of an intramedullary central nervous system lesion revealed melanoma while skin biopsy was benign melanocytic nevus. As per Kadonaga and Frieden criteria, a diagnosis of NCM was made. Planned for craniospinal irradiation by three-dimensional conformal radiotherapy with a dose of 36 Gy, in 18 fractions (2 Gy/fraction and 5 days in a week) along with steroids however patient progressed and developed quadriplegia with intradural metastasis.

  10. Characterization of a tailless white spot syndrome virus from ...

    African Journals Online (AJOL)

    WSSV) but without tail-like extension was identified and characterized from diseased Penaeus vannamei and moribund Procambarus clarkia. Contrary to previous reports, white spots were not observed on the carapace of the diseased P.

  11. Cognitive characterization of children with Dravet syndrome: A neurodevelopmental perspective.

    Science.gov (United States)

    Acha, Joana; Pérez, Alejandro; Davidson, Doug J; Carreiras, Manuel

    2015-01-01

    Dravet syndrome (DS) is an epilepsy of infantile onset, usually related to a mutation in gene sodium channel alpha 1 subunit, that leads to different typological seizures before the first year of life. Although most research has focused on the clinical description of the syndrome, some recent studies have focused on its impact on cognitive development, identifying both motor disorders and visual-processing deficits as basic factors affected in adults and children with DS. In this article, we designed a cross-sectional study to examine the cognitive phenotype of children affected by DS from a neurodevelopmental perspective. We report measures for both basic (auditory perception, visual and phonological processing, motor coordination) and higher order cognitive processes (verbal production, categorization, and executive function) in two age groups of DS children (M = 8.8 and M = 14.1) and control children of the same chronological age. Results showed an important cognitive delay in DS children with respect to controls in both basic and higher order cognitive abilities, with a better general outcome in tasks that required processing visual material (visual memory and categorization) than in tasks involving verbal material. In addition, performance of DS children in certain basic tasks (visual memory) correlated with performance on complex ones (categorization). These findings encourage promoting an early identification of not only clinical but also cognitive features in DS children from very early stages of development in order to optimize their neurodevelopmental outcome.

  12. Characterization of a novel coronavirus associated with severe acute respiratory syndrome

    NARCIS (Netherlands)

    P.A. Rota (Paul); M.S. Oberste (Steven); S.S. Monroe (Stephan); W.A. Nix (Allan); R. Campagnoli (Ray); J.P. Icenogle (Joseph); S. Penaranda; B. Bankamp (Bettina); K. Maher (Kaija); M.H. Chen (Min-hsin); S. Tong (Suxiong); A. Tamin (Azaibi); L. Lowe (Luis); M. Frace (Michael); J.L. DeRisi (Joseph); Q. Chen (Qi); D. Wang (David); D.D. Erdman (Dean); T.C. Peret (Teresa); C. Burns (Cara); T.G. Ksiazek (Thomas); P.E. Rollin (Pierre); A. Sanchez (Berenguer); S. Liffick (Stephanie); B. Holloway (Brian); J. Limor (Josef); K. McCaustland (Karen); M. Olsen-Rasmussen (Mellissa); S. Gunther; A.D.M.E. Osterhaus (Albert); C. Drosten (Christian); M.A. Pallansch (Mark); L.J. Anderson (Larry); W.J. Belline; R.A.M. Fouchier (Ron)

    2003-01-01

    textabstractIn March 2003, a novel coronavirus (SARS-CoV) was discovered in association with cases of severe acute respiratory syndrome (SARS). The sequence of the complete genome of SARS-CoV was determined, and the initial characterization of the viral genome is presented in this report. The

  13. Serum MHPG Strongly Predicts Conversion to Alzheimer's Disease in Behaviorally Characterized Subjects with Down Syndrome

    NARCIS (Netherlands)

    Dekker, Alain D.; Coppus, Antonia M. W.; Vermeiren, Yannick; Aerts, Tony; van Duijn, Cornelia M.; Kremer, Berry P.; Naude, Pieter J. W.; Van Dam, Debby; De Deyn, Peter P.

    2015-01-01

    Background: Down syndrome (DS) is the most prevalent genetic cause of intellectual disability. Early-onset Alzheimer's disease (AD) frequently develops in DS and is characterized by progressive memory loss and behavioral and psychological signs and symptoms of dementia (BPSD). Predicting and

  14. Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

    NARCIS (Netherlands)

    Jongmans, M.; Sistermans, E.A.; Rikken, A.; Nillesen, W.M.; Tamminga, R.; Patton, M.A.; Maier, E.M.; Tartaglia, M.; Noordam, K.; Burgt, C.J.A. van der

    2005-01-01

    Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the

  15. Genotypic and phenotypic characterization of Noonan syndrome : New data and review of the literature

    NARCIS (Netherlands)

    Jongmans, M.; Sistermans, E.A.; Rikken, A.; Nillesen, W.M.; Tamminga, Rienk; Patton, M.; Maier, E.M.; Tartaglia, M.; Noordam, K.; van der Burgt, I.

    2005-01-01

    Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the

  16. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

    Science.gov (United States)

    Wenger, Sharon L; Grossfeld, Paul D; Siu, Benjamin L; Coad, James E; Keller, Frank G; Hummel, Marybeth

    2006-04-01

    The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome. Copyright 2006 Wiley-Liss, Inc.

  17. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis.

    Science.gov (United States)

    Torre, Michele; Baban, Anwar; Buluggiu, Anna; Costanzo, Sara; Bricco, Lara; Lerone, Margherita; Bianca, Sebastiano; Gatti, Gian Luca; Sénès, Filippo Maria; Valle, Maura; Calevo, Maria Grazia

    2010-05-01

    Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet. We studied the clinical correlation between these 2 anomalies, and we tried to elucidate whether dextrocardia or Poland syndrome comes first. This is a multicentric multidisciplinary study conducted over the last 5 years. We identified 122 patients with Poland syndrome, and we investigated heart position through different imaging techniques. Logistic regression statistical analyses were carried out. We observed dextrocardia in 14 (11.5%) patients, which was never associated with situs inversus. All of them presented with left-sided Poland syndrome and partial agenesis of 2 or more ribs. Conversely, all patients with Poland syndrome with partial agenesis of 2 or more ribs presented with dextrocardia, whereas dextrocardia was never associated with partial agenesis of a single rib. Three patients with dextrocardia presented with simple congenital heart defects. These findings suggest that mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to this hypothesis, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support our hypothesis. 2010 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

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

    Science.gov (United States)

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

    2017-11-01

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

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

    Science.gov (United States)

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

    2017-02-01

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

  20. Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

    Directory of Open Access Journals (Sweden)

    Elisabet Selga

    Full Text Available Brugada syndrome (BrS is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work was to determine the spectrum and prevalence of genetic variations in a Spanish cohort diagnosed with BrS.We directly sequenced fourteen genes reported to be associated with BrS in 55 unrelated patients clinically diagnosed. Our genetic screening allowed the identification of 61 genetic variants. Of them, 20 potentially pathogenic variations were found in 18 of the 55 patients (32.7% of the patients, 83.3% males. Nineteen of them were located in SCN5A, and had either been previously reported as pathogenic variations or had a potentially pathogenic effect. Regarding the sequencing of the minority genes, we discovered a potentially pathogenic variation in SCN2B that was described to alter sodium current, and one nonsense variant of unknown significance in RANGRF. In addition, we also identified 40 single nucleotide variations which were either synonymous variants (four of them had not been reported yet or common genetic variants. We next performed MLPA analysis of SCN5A for the 37 patients without an identified genetic variation, and no major rearrangements were detected. Additionally, we show that being at the 30-50 years range or exhibiting symptoms are factors for an increased potentially pathogenic variation discovery yield.In summary, the present study is the first comprehensive genetic evaluation of 14 BrS-susceptibility genes and MLPA of SCN5A in a Spanish BrS cohort. The mean pathogenic variation discovery yield is higher than that described for other European BrS cohorts (32.7% vs 20-25%, respectively, and is even higher for patients in the 30-50 years age range.

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

    Science.gov (United States)

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

    2014-03-01

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

  2. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    OpenAIRE

    Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J M; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco

    2013-01-01

    Abstract Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results Clinical in...

  3. Purification and Biochemical Characterization of Glutathione S-Transferase from Down Syndrome and Normal Children Erythrocytes: A Comparative Study

    Science.gov (United States)

    Hamed, Ragaa R.; Maharem, Tahany M.; Abdel-Meguid, Nagwa; Sabry, Gilane M.; Abdalla, Abdel-Monem; Guneidy, Rasha A.

    2011-01-01

    Down syndrome (DS) is the phenotypic manifestation of trisomy 21. Our study was concerned with the characterization and purification of glutathione S-transferase enzyme (GST) from normal and Down syndrome (DS) erythrocytes to illustrate the difference in the role of this enzyme in the cell. Glutathione S-transferase and glutathione (GSH) was…

  4. Sturge-Weber syndrome.

    Science.gov (United States)

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. © 2015 Elsevier B.V. All rights reserved.

  5. A Paraneoplastic Syndrome Characterized by Extremity Swelling with Associated Inflammatory Infiltrate Heralds Aggressive Transformation of Myelodysplastic Syndromes/Myeloproliferative Neoplasms to Acute Myeloid Leukemia: A Case Series

    Directory of Open Access Journals (Sweden)

    James K. Mangan

    2012-01-01

    Full Text Available There has been a long history of reports describing a variety of paraneoplastic phenomena associated with myelodysplastic syndromes, particularly those with autoimmune manifestations. We report here a series of patients with an antecedent myelodysplastic syndrome (MDS or myeloproliferative neoplasm (MPN that underwent aggressive transformation to acute myeloid leukemia (AML. In each case, the transformation to AML was preceded by an inflammatory syndrome characterized by unilateral extremity swelling and an associated inflammatory skin infiltrate, as well as other signs of inflammation, including profound hyperferritinemia without evidence of a hemophagocytic syndrome. We suggest that such an inflammatory syndrome may herald aggressive transformation of MDS/MPN to AML. Patients with known MDS/MPN who present with these features may benefit from early bone marrow examination to assess disease status. Early intervention with corticosteroids in select patients may result in improvement or resolution of the symptoms and permit intensive therapy for AML to be delivered.

  6. Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:.

    Science.gov (United States)

    Hong, Kui; Berruezo-Sanchez, Antonio; Poungvarin, Naravat; Oliva, Antonio; Vatta, Matteo; Brugada, Josep; Brugada, Pedro; Towbin, Jeffrey A; Dumaine, Robert; Piñero-Galvez, Carlos; Antzelevitch, Charles; Brugada, Ramon

    2004-01-01

    Brugada syndrome is characterized by sudden death secondary to malignant arrhythmias and the presence of ST segment elevation in leads V(1) to V(3) of patients with structurally normal hearts. This ECG pattern often is concealed but can be unmasked using potent sodium channel blockers. Like congenital long QT syndrome type 3 (LQT3) and sudden unexpected death syndrome, Brugada syndrome has been linked to mutations in SCN5A. We screened a large European family with Brugada syndrome. Three members (two female) had suffered malignant ventricular arrhythmias. Ten members showed an ECG pattern characteristic of Brugada syndrome at baseline, and eight showed the pattern only after administration of ajmaline (total 12 female). Haplotype analysis revealed that all individuals with positive ECG at baseline shared the SCN5A locus. Sequencing of SCN5A identified a missense mutation, R367H, previously associated with sudden unexpected death syndrome. Two of the eight individuals who displayed a positive ECG after the administration of ajmaline, but not before, did not have the R367H mutation, and sequencing analysis failed to identify any other mutation in SCN5A. The R367H mutation failed to generate any current when heterologously expressed in HEK cells. Our results support the hypothesis that (1) sudden unexpected death syndrome and Brugada syndrome are the same disease; (2) male predominance of the phenotype observed in sudden unexpected death syndrome does not apply to this family, suggesting that factors other than the specific mutation determine the gender distinction; and (3) ajmaline may provide false-positive results. These findings have broad implications relative to the diagnosis and risk stratification of family members of patients with the Brugada syndrome.

  7. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

    Science.gov (United States)

    Martinelli, Diego; Travaglini, Lorena; Drouin, Christian A; Ceballos-Picot, Irene; Rizza, Teresa; Bertini, Enrico; Carrozzo, Rosalba; Petrini, Stefania; de Lonlay, Pascale; El Hachem, Maya; Hubert, Laurence; Montpetit, Alexandre; Torre, Giuliano; Dionisi-Vici, Carlo

    2013-03-01

    MEDNIK syndrome-acronym for mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia-is caused by AP1S1 gene mutations, encoding σ1A, the small subunit of the adaptor protein 1 complex, which plays a crucial role in clathrin coat assembly and mediates trafficking between trans-Golgi network, endosomes and the plasma membrane. MEDNIK syndrome was first reported in a few French-Canadian families sharing common ancestors, presenting a complex neurocutaneous phenotype, but its pathogenesis is not completely understood. A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showed severe perturbations of copper metabolism with hypocupremia, hypoceruloplasminemia and liver copper accumulation, along with intrahepatic cholestasis. Zinc acetate treatment strikingly improved clinical conditions, as well as liver copper and bile-acid overload. We evaluated copper-related metabolites and liver function retrospectively in the original French-Canadian patient series. Intracellular copper metabolism and subcellular localization and function of copper pump ATP7A were investigated in patient fibroblasts. Copper metabolism perturbation and hepatopathy were confirmed in all patients. Studies in mutant fibroblasts showed abnormal copper incorporation and retention, reduced expression of copper-dependent enzymes cytochrome-c-oxidase and Cu/Zn superoxide dismutase, and aberrant intracellular trafficking of Menkes protein ATP7A, which normalized after rescue experiments expressing wild-type AP1S1 gene. We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins. This multisystem disease is characterized by a unique picture, combining clinical and biochemical signs of both Menkes and Wilson's diseases, in which liver copper overload is treatable by zinc acetate therapy, and can now be listed as a copper metabolism defect in humans. Our results may also

  8. Quantitative, Phenotypical, and Functional Characterization of Cellular Immunity in Children and Adolescents With Down Syndrome.

    Science.gov (United States)

    Schoch, Justine; Rohrer, Tilman R; Kaestner, Michael; Abdul-Khaliq, Hashim; Gortner, Ludwig; Sester, Urban; Sester, Martina; Schmidt, Tina

    2017-05-15

    Infections and autoimmune disorders are more frequent in Down syndrome, suggesting abnormality of adaptive immunity. Although the role of B cells and antibodies is well characterized, knowledge regarding T cells is limited. Lymphocyte subpopulations of 40 children and adolescents with Down syndrome and 51 controls were quantified, and phenotype and functionality of antigen-specific effector T cells were analyzed with flow cytometry after polyclonal and pathogen-specific stimulation (with varicella-zoster virus [VZV] and cytomegalovirus [CMV]). Results were correlated with immunoglobulin (Ig) G responses. Apart from general alterations in the percentage of lymphocytes, regulatory T cells, and T-helper 1 and 17 cells, all major T-cell subpopulations showed higher expression of the inhibitory receptor PD-1. Polyclonally stimulated effector CD4+ T-cell frequencies were significantly higher in subjects with Down syndrome, whereas their inhibitory receptor expression (programmed cell death 1 [PD-1] and cytotoxic T-lymphocyte antigen 4 [CTLA-4]) was similar to that of controls and cytokine expression profiles were only marginally altered. Pathogen-specific immunity showed age-appropriate levels of endemic infection, with correlation of CMV-specific cellular and humoral immunity in all subjects. Among VZV IgG-positive individuals, a higher percentage of VZV-specific T-cell-positive subjects was seen in those with Down syndrome. Despite alterations in lymphocyte subpopulations, individuals with Down syndrome can mount effector T-cell responses with similar phenotype and functionality as controls but may require higher effector T-cell frequencies to ensure pathogen control.

  9. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  10. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

    NARCIS (Netherlands)

    Valayannopoulos, V.; Bakouh, N.; Mazzuca, M.; Nonnenmacher, L.; Hubert, L.; Makaci, F.L.; Chabli, A.; Salomons, G.S.; Mellot-Draznieks, C.; Brule, E.; de Lonlay, P.; Toulhoat, H.; Munnich, A.; Planelles, G.; de Keyzer, Y.

    2013-01-01

    Intellectual disability coupled with epilepsy are clinical hallmarks of the creatine (Cr) transporter deficiency syndrome resulting from mutations in the SLC6A8 gene. So far characterization of pathogenic mutations of SLC6A8 has been limited to Cr uptake. The aim of our study was to characterize the

  11. CHARACTERIZATION OF INFECTIONS IN PATIENTS WITH 22Q11.2 DELETION SYNDROME

    OpenAIRE

    Oliveira, Manuel; Teixeira, Carla; Vasconcelos, Júlia; Neves, Esmeralda; Álvares, Sílvia; Guedes, Margarida; Marques, Laura

    2017-01-01

    Background: The 22q11.2 deletion syndrome (SD22q11.2) has an incidence of 1/2000 to 1/7000 live births. It is characterized by a variable degree of immunodeficiency that predisposes to infections, especially sino-pulmonary. Material and Methods: A retrospective study of 12 patients with del22q11.2 de novo was performed, focusing on the immunological characteristics and the type and number of documented infections. Results: The immunological studies showed one patient had severe T lymphopenia ...

  12. Sturge -Weber Syndrome - Three Classic variants

    Directory of Open Access Journals (Sweden)

    R S Sathawane

    2006-01-01

    Full Text Available Sturge-Weber syndrome (SWS, also known as encephalotrigeminal angiomatosis, a sporadic, non-familial, congenital disorder consists of congenital hamartomatous malformations that may affect the eye, skin and central nervous system at different times. Sturge-Weber syndrome is classified as 1 Complete trisymptomatic: - when all three organ systems i.e. eye, skin and CNS are involved 2 Incomplete bisymptomatic:- when the involvement is either oculocutaneous or neurocutaneous, and 3 Incomplete monosymptomatic: when there is only neural or cutaneous involvement. Failure of proper vascular development is believed to be the most likely cause of this condition. The malformed blood vessels or hemangiomas may lead to port-wine stain, epilepsy and glaucoma depending on its location. Three classic variants with typical findings are discussed.

  13. A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

    Directory of Open Access Journals (Sweden)

    Faruk Incecik

    2013-01-01

    Full Text Available Sjögren-Larsson syndrome (SLS is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N mutation in exon 6 in two patients.

  14. Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn.

    Science.gov (United States)

    Reinholdt, Laura G; Ding, Yueming; Gilbert, Griffith J; Gilbert, Griffith T; Czechanski, Anne; Solzak, Jeffrey P; Roper, Randall J; Johnson, Mark T; Donahue, Leah Rae; Lutz, Cathleen; Davisson, Muriel T

    2011-12-01

    Ts65Dn is a mouse model of Down syndrome: a syndrome that results from chromosome (Chr) 21 trisomy and is associated with congenital defects, cognitive impairment, and ultimately Alzheimer's disease. Ts65Dn mice have segmental trisomy for distal mouse Chr 16, a region sharing conserved synteny with human Chr 21. As a result, this strain harbors three copies of over half of the human Chr 21 orthologs. The trisomic segment of Chr 16 is present as a translocation chromosome (Mmu17(16)), with breakpoints that have not been defined previously. To molecularly characterize the Chrs 16 and 17 breakpoints on the translocation chromosome in Ts65Dn mice, we used a selective enrichment and high-throughput paired-end sequencing approach. Analysis of paired-end reads flanking the Chr 16, Chr 17 junction on Mmu17(16) and de novo assembly of the reads directly spanning the junction provided the precise locations of the Chrs 16 and 17 breakpoints at 84,351,351 and 9,426,822 bp, respectively. These data provide the basis for low-cost, highly efficient genotyping of Ts65Dn mice. More importantly, these data provide, for the first time, complete characterization of gene dosage in Ts65Dn mice.

  15. Identification and Characterization of Prodromal Risk Syndromes in Young Adolescents in the Community: A Population-Based Clinical Interview Study.

    LENUS (Irish Health Repository)

    2012-02-01

    While a great deal of research has been conducted on prodromal risk syndromes in relation to help-seeking individuals who present to the clinic, there is a lack of research on prodromal risk syndromes in the general population. The current study aimed first to establish whether prodromal risk syndromes could be detected in non-help-seeking community-based adolescents and secondly to characterize this group in terms of Axis-1 psychopathology and general functioning. We conducted in-depth clinical interviews with a population sample of 212 school-going adolescents in order to assess for prodromal risk syndromes, Axis-1 psychopathology, and global (social\\/occupational) functioning. Between 0.9% and 8% of the community sample met criteria for a risk syndrome, depending on varying disability criteria. The risk syndrome group had a higher prevalence of co-occurring nonpsychotic Axis-1 psychiatric disorders (OR = 4.77, 95% CI = 1.81-12.52; P < .01) and poorer global functioning (F = 24.5, df = 1, P < .0001) compared with controls. Individuals in the community who fulfill criteria for prodromal risk syndromes demonstrate strong similarities with clinically presenting risk syndrome patients not just in terms of psychotic symptom criteria but also in terms of co-occurring psychopathology and global functioning.

  16. Characterization of electroencephalographic and biochemical responses at 5-HT promoting drug-induced onset of serotonin syndrome in rats

    Science.gov (United States)

    Ma, Zhiyuan; Rudacille, Mary; Prentice, Howard M.; Tao, Rui

    2014-01-01

    Many psychotropic substances used either for medications or illicit recreational purposes are able to produce an increase in extracellular serotonin (5HT) in the CNS. 5HT is well known to improve mood, however, only when the levels of its release are in an appropriate range. Excessive 5HT is harmful, and will generally result in serotonin syndrome. To date, clinical diagnosis of serotonin syndrome relies exclusively on observation of symptoms because of a lack of available laboratory tests. The goal of the present study was to characterize the onset of the syndrome using laboratory settings to determine excessive 5HT-evoked neurological abnormalities. Experiments were carried out in rats with the syndrome being elicited by three groups of 5HT-promoting drugs: 1) (±)-3,4-methylenedioxymethamphetamine (MDMA); 2) a combination of the monoamine oxidase inhibitor clorgyline with the 5HT precursor 5-hydroxytryptophan; 3) clorgyline combined with the serotonin-selective reuptake inhibitor paroxetine. The onset of the syndrome was characterized by electroencephalography (EEG), tremor and brain/plasma 5HT tests. We found that a mild syndrome was associated with reduced EEG amplitudes while a severe syndrome strongly with seizure-like EEG activity and increased tremor activity. The occurrence of the syndrome was confirmed with microdialysis, showing excessive 5HT efflux in brain dialysate and the increased concentration of unbound 5HT in the plasma. Our findings suggest that the syndrome onset can be revealed with EEG recording, measurements of tremor activity and changes of unbound 5HT concentration in the plasma. PMID:23286698

  17. Biochemical and Pharmacological Characterization of a Mice Model of Complex Regional Pain Syndrome.

    Science.gov (United States)

    Das, Vaskar; Kroin, Jeffrey S; Moric, Mario; Buvanendran, Asokumar

    Complex regional pain syndrome is a challenging disease to treat. Recently, a mouse fracture model of complex regional pain syndrome has been developed that has many signs of the clinical syndrome. However, many aspects of the sensory neuron biochemistry and behavioral and pharmacological characterization of this model remain to be clarified. Mice were randomly assigned to fracture/cast or control (naive) groups. Fracture/cast mice underwent a closed distal tibia facture, with hindlimb wrapped in casting tape for 3 weeks. After cast removal, mice were tested for mechanical allodynia, burrowing behavior, and motor ability over a 12-week period. Protein immunohistochemistry was performed for substance P, calcitonin gene-related peptide, tropomyosin receptor kinase A, nerve growth factor, Nav1.7, and transient receptor potential cation-channel V1, colocalized in neurons, in the ipsilateral lumbar dorsal root ganglia (DRGs). Analgesic drugs were tested for pain-relieving efficacy. Mechanical allodynia was greater in the ipsilateral hindpaw (P = 0.0002) in the fracture/cast group versus the control group, over the 3- to 12-week period. The amount of burrowing material removed was decreased (P = 0.0026), and there were deficits in spontaneous motor-rearing behavior (P = 0.018). Immunostaining of substance P, calcitonin gene-related peptide, Trk A receptor, nerve growth factor, Nav1.7, and transient receptor potential cation-channel V1 all demonstrated up-regulation in the DRGs of fracture mice versus controls (all P mouse fracture/cast model with wide-scale DRG up-regulation of pain mediators. Antihyperalgesic drugs reduced mechanical allodynia and improved burrowing.

  18. Characterization of a Novel Betacoronavirus Related to Middle East Respiratory Syndrome Coronavirus in European Hedgehogs

    Science.gov (United States)

    Corman, Victor Max; Kallies, René; Philipps, Heike; Göpner, Gertraude; Müller, Marcel Alexander; Eckerle, Isabella; Brünink, Sebastian

    2014-01-01

    Bats are known to host viruses closely related to important human coronaviruses (HCoVs), such as HCoV-229E, severe-acute respiratory syndrome coronavirus (SARS-CoV), and Middle East respiratory syndrome CoV (MERS-CoV). As RNA viruses may coevolve with their hosts, we sought to investigate the closest sister taxon to bats, the Eulipotyphla, and screened European hedgehogs (Erinaceus europaeus) from Germany for CoV by nested reverse transcriptase PCR. A novel betacoronavirus species in a phylogenetic sister relationship to MERS-CoV and clade c bat CoVs was detected and characterized on the whole-genome level. A total of 58.9% of hedgehog fecal specimens were positive for the novel CoV (EriCoV) at 7.9 log10 mean RNA copies per ml. EriCoV RNA concentrations were higher in the intestine than in other solid organs, blood, or urine. Detailed analyses of the full hedgehog intestine showed the highest EriCoV concentrations in lower gastrointestinal tract specimens, compatible with viral replication in the lower intestine and fecal-oral transmission. Thirteen of 27 (48.2%) hedgehog sera contained non-neutralizing antibodies against MERS-CoV. The animal origins of this betacoronavirus clade that includes MERS-CoV may thus include both bat and nonbat hosts. PMID:24131722

  19. Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.

    Directory of Open Access Journals (Sweden)

    Genri Kawahara

    Full Text Available SIL1 is a nucleotide exchange factor for the endoplasmic reticulum chaperone, BiP. Mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS, an autosomal recessive disease characterized by cerebellar ataxia, mental retardation, congenital cataracts, and myopathy. To create novel zebrafish models of MSS for therapeutic drug screening, we analyzed phenotypes in sil1 knock down fish by two different antisense oligo morpholinos. Both sil1 morphants had abnormal formation of muscle fibers and irregularity of the myosepta. Moreover, they showed smaller-sized eyes and loss of purkinje cells in cerebellar area compared to controls. Immunoblotting analysis revealed increased protein amounts of BiP, lipidated LC3, and caspase 3. These data supported that the sil1 morphants can represent mimicking phenotypes of human MSS. The sil1 morphants phenocopy the human MSS disease pathology and are a good animal model for therapeutic studies.

  20. Fine structural characterization of chondroitin sulfate in urine of bladder pain syndrome subjects.

    Science.gov (United States)

    Maccari, Francesca; Buzzega, Dania; Galeotti, Fabio; Volpi, Nicola

    2011-12-01

    Urothelial glycosaminoglycans (GAGs) are decreased in bladder pain syndrome (BPS), and urinary GAGs are thought to reflect this deficiency. In previous researches, urine GAG levels were found increased, decreased, or similar between BPS and controls. Additionally, no study is available on the structure characterization of urinary chondroitin sulfate (CS) in BPS patients. CS in the urine of BPS-affected patients and controls has been determined by specific electrophoresis, along with total GAGs and heparan sulfate (HS) percentage, and CS disaccharides have been quantified by high-performance liquid chromatography. No significant differences were obtained for total amount of GAGs, absolute content of CS and HS, and their relative percentages. Moreover, no differences were observed for CS structure confirming similar urine CS composition in BPS subjects and controls. This study found no significant differences of BPS and control urine GAG levels and CS structure to allow use of these parameters as diagnostic markers for BPS diagnosis.

  1. Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases.

    Science.gov (United States)

    Xiong, Lan; Montplaisir, Jacques; Desautels, Alex; Barhdadi, Amina; Turecki, Gustavo; Levchenko, Anastasia; Thibodeau, Pascale; Dubé, Marie-Pierre; Gaspar, Claudia; Rouleau, Guy A

    2010-05-01

    To fully ascertain the familial aggregation of restless legs syndrome (RLS) and to characterize the clinical features of familial RLS (fRLS) cases. A case series survey with a high response rate. Academic research center. Consecutive RLS probands (n = 249) were followed up in a specialized sleep center for 15 years. A total of 671 cases of fRLS met the current standard diagnostic criteria, including 192 probands characterized using multidimensional clinical assessments and 479 affected family members assessed by their responses to a structured questionnaire telephone diagnostic interview. Sibling and offspring relative risk ratio and clinical and genetic features of patients with fRLS and families. Our data showed that RLS aggregates in families with a familial rate of 77%, a sibling relative risk of 3.6 (95% confidence interval, 2.8-4.4), and an offspring relative risk of 1.8 (1.0-2.7). Familial RLS is a chronic disorder with a mean (SD) disease duration of 24 (16) years and a wide range of age of onset (mean [SD], 28 [15] years), with most family members having early-onset disease but mild to moderate RLS symptoms. Our clinical data also indicated that fRLS is more prominent among women who also had increased incidence of anemia/iron deficiency, arthritis, and number of pregnancies. Pregnancy-related RLS seems to be a characteristic feature of fRLS, and afflicted women tend to have a much younger age of onset. Restless legs syndrome significantly aggregated in families with variable phenotypic expressivity, and the siblings of severely affected individuals have an increased risk of developing the disease.

  2. Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report.

    Science.gov (United States)

    Pascual-Castroviejo, I; Pascual-Pascual, S-I; Viaño, J

    2008-12-01

    We present a 3-month-old girl who showed segmental NF1 and Cobb syndrome. She has a cutaneous vascular malformation located on the middle T (4)-T (6) region superimposed on a giant cutaneous café-au-lait spot. Magnetic resonance arteriography (MRA) revealed bilateral renal artery stenosis, extensive hypertrophy of the spinal epidural venous plexus, coarctation and tubular hypoplasia of the aortic arch and proximal portion of descending aorta. To the best of our knowledge the association of both neurocutaneous disorders has not being previously described.

  3. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.

    Science.gov (United States)

    Rucker, Janet C; Webb, Bryn D; Frempong, Tamiesha; Gaspar, Harald; Naidich, Thomas P; Jabs, Ethylin Wang

    2014-04-01

    Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n=17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n=10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n=2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius syndrome (Pattern 4, n=10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve

  4. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes

    Science.gov (United States)

    Webb, Bryn D.; Frempong, Tamiesha; Gaspar, Harald; Naidich, Thomas P.; Jabs, Ethylin Wang

    2014-01-01

    Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n = 17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n = 10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n = 2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius syndrome (Pattern 4, n = 10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens

  5. Further insights into the allan-herndon-dudley syndrome: Clinical and functional characterization of a novel MCT8 mutation

    NARCIS (Netherlands)

    Armour, C.M. (Christine M.); S. Kersseboom (Simone); Yoon, G. (Grace); T.J. Visser (Theo)

    2015-01-01

    textabstractBackground. Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and altered TH serum levels. Here we report a novel MCT8 mutation identified in 4 generations of

  6. The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    NARCIS (Netherlands)

    S.M. Nikkel (Sarah); A. Dauber (Andrew); S. de Munnik (Sonja); M. Connolly (Meghan); R.L. Hood (Rebecca L); O. Caluseriu (Oana); J.A. Hurst (Jane); U. Kini (Usha); M.J.M. Nowaczyk; A. Afenjar (Alexandra); B. Albrecht; J.E. Allanson (Judith); P. Balestri (Paolo); T. Ben-Omran (Tawfeg); F. Brancati (Fred); I. Cordeiro (Isabel); B.S. Da Cunha (Bruna Santos); P.F. Delaney (Peter); A. Destrée (Anne); D.R. Fitzpatrick (David); F. Forzano (Francesca); N. Ghali (Neeti); G. Gillies (Greta); J. Harwood; Y. Hendriks; D. Héron (Delphine); A. Hoischen (Alex); E.M. Honey (Engela Magdalena); E.H. Hoefsloot (Lies); J. Ibrahim (Jennifer); C. Jacob (Claire); S.G. Kant (Sarina); C.A. Kim (Chong); E.P. Kirk (Edwin P); N.V.A.M. Knoers (Nine); D. Lacombe (Denis); C. van der Lee (Christiaan); I.F.M. Lo (Ivan F M); L.S. Lucas (Luiza S); F. Mari (Francesca); V. Mericq (Veronica); J.S. Moilanen (Jukka S); S.T. Møller (Sanne Traasdahl); S. Moortgat (Stephanie); D.T. Pilz (Daniela); K. Pope (Kate); S. Price (Susan); A. Renieri (Alessandra); J. Sá (Joaquim); J. Schoots (Jeroen); E.L. Silveira (Elizabeth L); M.E.H. Simon (Marleen); A. Slavotinek (Anne); I.K. Temple; I. van der Burgt (Ineke); B.B.A. de Vries (Bert); J.D. Weisfeld-Adams (James D); M.L. Whiteford (Margo L); D. Wierczorek (Dagmar); J.M. Wit (Jan); C.F.O. Yee (Connie Fung On); P. Beaulieu (Patrick); S.M. White (Sue M); B. Bulman; E. Bongers (Ernie); H. Brunner (Han); M. Feingold (Murray); K.M. Boycott (Kym)

    2013-01-01

    textabstractBackground: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA

  7. Characterization of the porcine FBX07 gene: the first step towards generation of a pig model for Parkinsonian pyramidal syndrome

    DEFF Research Database (Denmark)

    Larsen, Knud; Bendixen, Christian

    2012-01-01

    Parkinsonian pyramidal syndrome, also named pallido-pyramidal syndrome (PKPS), is the combination of early-onset progressive Parkinsonism with pyramidal tract signs. FBXO7, an F-box protein, is a component of modular E3 ubiquitin protein ligases called SCFs (SKP1, cullin, F-box proteins), which...... functions in phosphorylation-dependent ubiquitination. FBXO7 mutations cause autosomal recessive, early-onset PKPS. Here we report the molecular cloning and characterization of two isoforms of FBXO7 cDNA from pigs. The encoded FBXO7 protein displays a very high homology to human FBXO7 with an amino acid...

  8. CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.

    Science.gov (United States)

    Folsom, Lisal J; Slaven, James E; Nabhan, Zeina M; Eugster, Erica A

    2017-07-01

    To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (P<.01) and were more likely to have mosaic TS (P = .02). Significant variability in the timing of menarche exists among girls with TS. However, age at pubertal induction and karyotype were significantly correlated with age at menarche in our patients. A wide range of estrogen doses is seen in girls who bleed prior to progesterone, suggesting extreme variability in estrogen sensitivity among patients with TS. Girls achieving spontaneous menarche are younger and more likely to have a mosaic karyotype than those with induced menarche. Large-scale prospective studies are needed to confirm these results. BMI = body mass index; HRT = hormone replacement therapy; TS = Turner syndrome.

  9. Characterization of the microRNAome in porcine reproductive and respiratory syndrome virus infected macrophages.

    Directory of Open Access Journals (Sweden)

    Julie A Hicks

    Full Text Available Porcine Reproductive and Respiratory Syndrome Virus (PRRSV, a member of the arterivirus family, is the causative agent of Porcine Reproductive and Respiratory Syndrome (PRRS. PRRS is characterized by late term abortions and respiratory disease, particularly in young pigs. Small regulatory RNAs termed microRNA (miRNA are associated with gene regulation at the post-transcriptional level. MiRNAs are known to play many diverse and complex roles in viral infections. To discover the impact of PRRSV infections on the cellular miRNAome, Illumina deep sequencing was used to construct small RNA expression profiles from in vitro cultured PRRSV-infected porcine alveolar macrophages (PAMs. A total of forty cellular miRNAs were significantly differentially expressed within the first 48 hours post infection (hpi. The expression of six miRNAs, miR-30a-3p, miR-132, miR-27b*, miR-29b, miR-146a and miR-9-2, were altered at more than one time point. Target gene identification suggests that these miRNAs are involved in regulating immune signaling pathways, cytokine, and transcription factor production. The most highly repressed miRNA at 24 hpi was miR-147. A miR-147 mimic was utilized to maintain miR-147 levels in PRRSV-infected PAMs. PRRSV replication was negatively impacted by high levels of miR-147. Whether down-regulation of miR-147 is directly induced by PRRSV or if it is part of the cellular response and PRRSV indirectly benefits remains to be determined. No evidence could be found of PRRSV-encoded miRNAs. Overall, the present study has revealed that a large and diverse group of miRNAs are expressed in swine alveolar macrophages and that the expression of a subset of these miRNAs is altered in PRRSV infected macrophages.

  10. Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans.

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    Fabio Demontis

    Full Text Available BACKGROUND: The Usher syndrome (USH is the most frequent deaf-blindness hereditary disease in humans. Deafness is attributed to the disorganization of stereocilia in the inner ear. USH1, the most severe subtype, is associated with mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15, and sans. Myosin VIIa, harmonin, cadherin 23, and protocadherin 15 physically interact in vitro and localize to stereocilia tips in vivo, indicating that they form functional complexes. Sans, in contrast, localizes to vesicle-like structures beneath the apical membrane of stereocilia-displaying hair cells. How mutations in sans result in deafness and blindness is not well understood. Orthologs of myosin VIIa and protocadherin 15 have been identified in Drosophila melanogaster and their genetic analysis has identified essential roles in auditory perception and microvilli morphogenesis, respectively. PRINCIPAL FINDINGS: Here, we have identified and characterized the Drosophila ortholog of human sans. Drosophila Sans is expressed in tubular organs of the embryo, in lens-secreting cone cells of the adult eye, and in microvilli-displaying follicle cells during oogenesis. Sans mutants are viable, fertile, and mutant follicle cells appear to form microvilli, indicating that Sans is dispensable for fly development and microvilli morphogenesis in the follicle epithelium. In follicle cells, Sans protein localizes, similar to its vertebrate ortholog, to intracellular punctate structures, which we have identified as early endosomes associated with the syntaxin Avalanche. CONCLUSIONS: Our work is consistent with an evolutionary conserved function of Sans in vesicle trafficking. Furthermore it provides a significant basis for further understanding of the role of this Usher syndrome ortholog in development and disease.

  11. Pathogenicity and molecular characterization of emerging porcine reproductive and respiratory syndrome virus in Vietnam in 2007.

    Science.gov (United States)

    Metwally, S; Mohamed, F; Faaberg, K; Burrage, T; Prarat, M; Moran, K; Bracht, A; Mayr, G; Berninger, M; Koster, L; To, T L; Nguyen, V L; Reising, M; Landgraf, J; Cox, L; Lubroth, J; Carrillo, C

    2010-10-01

    In 2007, Vietnam experienced swine disease outbreaks causing clinical signs similar to the 'porcine high fever disease' that occurred in China during 2006. Analysis of diagnostic samples from the disease outbreaks in Vietnam identified porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circovirus type 2 (PCV-2). Additionally, Escherichia coli and Streptococcus equi subspecies zooepidemicus were cultured from lung and spleen, and Streptococcus suis from one spleen sample. Genetic characterization of the Vietnamese PRRSV isolates revealed that this virus belongs to the North American genotype (type 2) with a high nucleotide identity to the recently reported Chinese strains. Amino acid sequence in the nsp2 region revealed 95.7-99.4% identity to Chinese strain HUN4, 68-69% identity to strain VR-2332 and 58-59% identity to strain MN184. A partial deletion in the nsp2 gene was detected; however, this deletion did not appear to enhance the virus pathogenicity in the inoculated pigs. Animal inoculation studies were conducted to determine the pathogenicity of PRRSV and to identify other possible agents present in the original specimens. Pigs inoculated with PRRSV alone and their contacts showed persistent fever, and two of five pigs developed cough, neurological signs and swollen joints. Necropsy examination showed mild to moderate bronchopneumonia, enlarged lymph nodes, fibrinous pericarditis and polyarthritis. PRRSV was re-isolated from blood and tissues of the inoculated and contact pigs. Pigs inoculated with lung and spleen tissue homogenates from sick pigs from Vietnam developed high fever, septicaemia, and died acutely within 72 h, while their contact pigs showed no clinical signs throughout the experiment. Streptococcus equi subspecies zooepidemicus was cultured, and PRRSV was re-isolated only from the inoculated pigs. Results suggest that the cause of the swine deaths in Vietnam is a multifactorial syndrome with PRRSV as a major factor. © 2010

  12. Characterization of the asynergic myocardium in acute coronary syndrome using simultaneous dual radionuclide emission computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Sone, Takahito; Tsuboi, Hideyuki; Sassa, Hiromi; Okumura, Yasuki (Ogaki Municipal Hospital, Gifu (Japan))

    1991-01-01

    Phantom and clinical studies were undertaken to determine the value of dual SPECT with Tl-201 and Tc-99m pyrophosphate using a simultaneous collection method in evaluating tissue characterization of ischemic myocardium. Phantom experiments revealed that the residual myocardium was detected from the severity of Tl-201 defect images; the influence of cross talk between two radionuclides was negligible; when the Tc-99m layer was located within 50% inside the phantom wall and the other space was filled with Tl-201 solution, the Tc-99m layer was visualized inwardly more clearly than the Tl-201 layer; and transmural infarction 2 to 2.5 cm in diameter was visualized as the total defect of Tl-201. Taking these results into account, scintigraphic characteristics in 84 patients with acute coronary syndrome were evaluated. Seventeen patients in whom asynergy had nearly resolved in the chronic phase were defined as the group of reversible ischemic myocardial damage. Tl-201 uptake in ischemic lesions was improved in the chronic phase when reinfarction was not seen. Both reduced uptake of Tl-201 and Tc-99m uptake in the subendocardial segment were seen in 43% for nontransmural infarction. Total defect of Tl-201 along with transmural uptake of Tc-99m was the most common for transmural infarction. For unstabler angina pectoris, there was no evidence of Tc-99m PYP uptake. Reduced or normal uptake of Tl-201 combined with negative Tc-99m uptake were dominant for reversible ischemic myocardial damage. Patients having relatively good recovery had a significantly higher prevalence of reduced Tl-201 uptake and subendocardial uptake of Tc-99m and a significantly lower prevalence of the total defect of Tl-201 and transmural uptake of Tc-99m. In conclusion, dual SPECT is useful for predicting reversibility in the early stage of acute coronary syndrome. (N.K.).

  13. Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

    Science.gov (United States)

    Cruz-Correa, Marcia; Diaz-Algorri, Yaritza; Mendez, Vanessa; Vazquez, Pedro Juan; Lozada, Maria Eugenia; Freyre, Katerina; Lathroum, Liselle; Gonzalez-Pons, Maria; Hernandez-Marrero, Jessica; Giardiello, Francis; Rodriguez-Quilichini, Segundo

    2013-09-01

    Several genetically defined hereditary colorectal cancer (CRC) syndromes are associated with colonic polyposis including familial adenomatous polyposis (FAP) and MUTYH adenomatous polyposis (MAP). Limited data exists on the clinical characterization and genotypic spectrum of polyposis syndromes among Hispanics. To describe the phenotype and genotype of Puerto Rican Hispanic patients with FAP and MUTYH and compare with other ethnic and racial groups. Probands were identified from the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Recruited individuals completed risk factors, medical, and family history questionnaires and underwent genetic testing for genotype analysis. Frequency analysis, Chi square, Fisher's exact and Wilcoxon rank-sum tests were used for statistical analysis methods. A total of 31 FAP (from 19 families) and 13 MAP (from 13 families) Hispanic patients recruited from the PURIFICAR were evaluated. Among the FAP cases, mean age at diagnosis was 27.6 (range 9-71 years); 67.7 % cases had more than 100 polyps and 41.9 % had upper gastrointestinal polyps. Among the 19 FAP families, there were 77 affected FAP individuals and 26 colorectal cancer cases. Genetic mutations were available for 42.2 % of FAP families; all mutations identified were unique. Surgeries were reported in 31 cases; 14 (45.2 %) prophylactic surgeries and 6 (19.4 %) therapeutic surgeries for management of CRC. Among MAP cases, mean age at diagnosis was 53 (range 34-76 years). Genetic analysis revealed homozygous biallelic mutations (G382D) in 53.8 %, compound heterozygous mutations (G382/Y165C) in 23 %, and non-G382/Y165C monoallelic mutations in 23 %. Familial cancer registries should be promoted as vehicles for detection, education and follow up of families at-risk of acquiring familial cancers. PURIFICAR is the first and only familial cancer registry in Puerto Rico providing these services to families affected with familial cancer syndromes promoting education, testing

  14. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

    Science.gov (United States)

    Shaffer, Lisa G; Theisen, Aaron; Bejjani, Bassem A; Ballif, Blake C; Aylsworth, Arthur S; Lim, Cynthia; McDonald, Marie; Ellison, Jay W; Kostiner, Dana; Saitta, Sulagna; Shaikh, Tamim

    2007-09-01

    The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has traditionally depended on the serendipitous ascertainment of a patient with established clinical features and a chromosomal rearrangement visible by G-banding, comparative genomic hybridization using microarrays has enabled the identification of novel, recurrent imbalances in patients with mental retardation and apparently nonspecific features. Compared with the "phenotype-first" approach of traditional cytogenetics, array-based comparative genomic hybridization has enabled the detection of novel genomic disorders using a "genotype-first" approach. We report as an illustrative example the characterization of a novel microdeletion syndrome of 1q41q42. We tested more than 10,000 patients with developmental disabilities by array-based comparative genomic hybridization using our targeted microarray. High-resolution microarray analysis was performed using oligonucleotide microarrays for patients in whom deletions of 1q41q42 were identified. Fluorescence in situ hybridization was performed to confirm all 1q deletions in the patients and to exclude deletions or other chromosomal rearrangements in the parents. Seven cases were found with de novo deletions of 1q41q42. The smallest region of overlap is 1.17 Mb and encompasses five genes, including DISP1, a gene involved in the sonic hedgehog signaling pathway, the deletion of which has been implicated in holoprosencephaly in mice. Although none of these patients showed frank holoprosencephaly, many had other midline defects (cleft palate, diaphragmatic hernia), seizures, and mental retardation or developmental delay. Dysmorphic features are present in all patients at varying degrees. Some patients showed more severe phenotypes and carry the clinical diagnosis of Fryns syndrome. This new microdeletion syndrome with its variable clinical

  15. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    National Research Council Canada - National Science Library

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms...

  16. Development and characterization of an experimental model of diet-induced metabolic syndrome in rabbit.

    Directory of Open Access Journals (Sweden)

    Oscar Julián Arias-Mutis

    Full Text Available Metabolic syndrome (MetS has become one of the main concerns for public health because of its link to cardiovascular disease. Murine models have been used to study the effect of MetS on the cardiovascular system, but they have limitations for studying cardiac electrophysiology. In contrast, the rabbit cardiac electrophysiology is similar to human, but a detailed characterization of the different components of MetS in this animal is still needed. Our objective was to develop and characterize a diet-induced experimental model of MetS that allows the study of cardiovascular remodeling and arrhythmogenesis. Male NZW rabbits were assigned to control (n = 15 or MetS group (n = 16, fed during 28 weeks with high-fat, high-sucrose diet. We measured weight, morphological characteristics, blood pressure, glycaemia, standard plasma biochemistry and the metabolomic profile at weeks 14 and 28. Liver histological changes were evaluated using hematoxylin-eosin staining. A mixed model ANOVA or unpaired t-test were used for statistical analysis (P<0.05. Weight, abdominal contour, body mass index, systolic, diastolic and mean arterial pressure increased in the MetS group at weeks 14 and 28. Glucose, triglycerides, LDL, GOT-AST, GOT/GPT, bilirubin and bile acid increased, whereas HDL decreased in the MetS group at weeks 14 and 28. We found a 40% increase in hepatocyte area and lipid vacuoles infiltration in the liver from MetS rabbits. Metabolomic analysis revealed differences in metabolites related to fatty acids, energetic metabolism and microbiota, compounds linked with cardiovascular disease. Administration of high-fat and high-sucrose diet during 28 weeks induced obesity, glucose intolerance, hypertension, non-alcoholic hepatic steatosis and metabolic alterations, thus reproducing the main clinical manifestations of the metabolic syndrome in humans. This experimental model should provide a valuable tool for studies into the mechanisms of cardiovascular

  17. Toward a chronobiological characterization of obesity and metabolic syndrome in clinical practice.

    Science.gov (United States)

    Corbalán-Tutau, M D; Gómez-Abellán, P; Madrid, J A; Canteras, M; Ordovás, J M; Garaulet, M

    2015-06-01

    To test several circadian rhythm variables in a female population to identify the best tool to assess chronodisruption in obesity and metabolic syndrome (MetS) to define a score to be used for chronodisruption characterization in clinical practice. Anthropometric measurements and markers of circadian rhythms, such as sleep and feeding diary, Horne-Ostberg questionnaire, melatonin and cortisol measurements, and wrist temperature measurements, were determined. MetS variables were also analyzed. Study was conducted in 70 women. Data were subjected to factor analysis. Receiver operating characteristic curves were used as predictors of chronodisruption risk, and a score was calculated to classify the subjects of risk. Factor analysis showed that the first-factor grouped variables were related to the skin temperature measurement. Second factor consisted of variables related to salivary cortisol levels and obesity-related measurements. Third factor included variables related to sleep-wake cycle. Fourth factor referred to peripheral temperature variables and included the classification of subjects according to the Horne-Ostberg questionnaire. To obtain a final punctuation we performed the weighted mean of the first four factors. The final range was from 27 to 57, mean value of 42. Punctuation was defined as the "chronodisruption score." Women displaying higher chronodisruption scores had higher MetS risk. The study demonstrates that wrist temperature recordings, together with two questions of sleep onset and offset, and one morning salivary cortisol determination could be enough to characterize the chronobiology of obesity and MetS, a new chronodisruption score was developed. Copyright © 2014 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  18. Characterization of Symptoms in Irritable Bowel Syndrome with Mixed Bowel Habit Pattern

    Science.gov (United States)

    Su, Andrew; Shih, Wendy; Presson, Angela P.; Chang, Lin

    2013-01-01

    Background Irritable bowel syndrome (IBS) with mixed bowel habits (IBS-M) is a heterogeneous subtype with varying symptoms of constipation and diarrhea, and has not been well characterized. We aimed to characterize gastrointestinal (GI) and non-GI symptoms in IBS-M patients from a U.S. community, and to compare them with IBS with constipation (IBS-C) and diarrhea (IBS-D). Methods Subjects answering community advertisements and meeting Rome III criteria for IBS completed symptom questionnaires. Key Results Of the initial 289 IBS patients identified, one-third (n=51, 32.5%) who met Rome III criteria for IBS-M endorsed having either loose stools or hard stools due to medication. These patients had more severe symptoms and longer duration of flares compared to the rest of the IBS-M group (p = 0.014, p = 0.005). Excluding IBS-M patients with medication-related extremes in stool form who could not be reclassified by medical history, 247 IBS patients were assessed. IBS-M was the most common (44.1%), followed by IBS-C (27.9%), IBS-D (26.3%), and IBS-U (unsubtyped, 1.6%). IBS-M shared symptoms with both IBS-C and IBS-D (p-value range: habits (27.5%), bloating (26.6%), and abdominal pain (20.2%). There were no differences in non-GI symptoms between subtypes. Conclusions & Inferences IBS-M is a heterogeneous symptom group and thus requires that subclassification criteria be better defined. Use of laxative/anti-diarrheal medications adds to the diagnostic complexity in a potentially more severe subset of IBS-M and should be assessed for accurate subclassification. PMID:23991913

  19. Characterization of an aldolase-binding site in the Wiskott-Aldrich syndrome protein.

    Science.gov (United States)

    Buscaglia, Carlos A; Penesetti, Deepak; Tao, Mingyuan; Nussenzweig, Victor

    2006-01-20

    The thrombospondin-related anonymous protein (TRAP) is an essential transmembrane molecule in Plasmodium sporozoites. TRAP displays adhesive motifs on the extracellular portion, whereas its cytoplasmic tail connects to actin via aldolase, thus driving parasite motility and host cell invasion. The minimal requirements for the TRAP binding to aldolase were scanned here and found to be shared by different human proteins, including the Wiskott-Aldrich syndrome protein (WASp) family members. In vitro and in vivo binding of WASp members to aldolase was characterized by biochemical, deletion mapping, mutagenesis, and co-immunoprecipitation studies. As in the case of TRAP, the binding of WASp to aldolase is competitively inhibited by the enzyme substrate/products. Furthermore, TRAP and WASp, but not other unrelated aldolase binders, compete for the binding to the enzyme in vitro. Together, our results define a conserved aldolase binding motif in the WASp family members and suggest that aldolase modulates the motility and actin dynamics of mammalian cells. These findings along with the presence of similar aldolase binding motifs in additional human proteins, some of which indeed interact with aldolase in pull-down assays, suggest supplementary, non-glycolytic roles for this enzyme.

  20. Characterization of polyclonal antibodies against nonstructural protein 9 from the porcine reproductive and respiratory syndrome virus

    Directory of Open Access Journals (Sweden)

    Mengmeng ZHAO,Juanjuan QIAN,Jiexiong XIE,Tiantian CUI,Songling FENG,Guoqiang WANG,Ruining WANG,Guihong ZHANG

    2016-06-01

    Full Text Available Porcine reproductive and respiratory syndrome (PRRS is considered to be one of the most important infectious diseases impacting the swine industry and is characterized by reproductive failure in late term gestation in sows and respiratory disease in pigs of all ages. The nonstructural protein 9 gene, Nsp9, encoding the RNA-dependent RNA polymerase, is generally regarded as fairly conserved when compared to other viral proteins. Antibodies against Nsp9 will be of great importance for the diagnosis and treatment of the causal agent, PRRS virus. A study was undertaken to generate polyclonal antibodies against the immunodominant Nsp9. For this purpose, the Nsp9 was expressed in Escherichia coli and subsequently used as an antigen to immunize New Zealand rabbits. Antiserum was identified via an indirect ELISA, and then verified based on the ability to react with both naturally and artificially expressed Nsp9. Results of virus neutralization test showed that this antiserum could not neutralize the PRRSV. Nevertheless, this antiserum as a diagnostic core reagent should prove invaluable for further investigations into the mechanism of PRRS pathogenesis.

  1. Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.

    Directory of Open Access Journals (Sweden)

    Barbara Hamlington

    Full Text Available A child's obesity is generally perceived by the public to be under the control of the child's parents. While the health consequences of childhood obesity are well understood, less is known about psychological and social effects of having an obese child on parents. We set out to characterize stigma and courtesy stigma experiences surrounding obesity among children with Bardet-Biedl syndrome (BBS, a multisystem genetic disorder, and their parents.Twenty-eight parents of children with BBS participated in semi-structured interviews informed by social stigmatization theory, which describes courtesy stigma as parental perception of stigmatization by association with a stigmatized child. Parents were asked to describe such experiences.Parents of children with BBS reported the child's obesity as the most frequent target of stigmatization. They perceived health care providers as the predominant source of courtesy stigma, describing interactions that resulted in feeling devalued and judged as incompetent parents.Parents of children with BBS feel blamed by others for their child's obesity and described experiences that suggest health care providers may contribute to courtesy stigma and thus impede effective communication about managing obesity. Health care providers may reinforce parental feelings of guilt and responsibility by repeating information parents may have previously heard and ignoring extremely challenging barriers to weight management, such as a genetic predisposition to obesity. Strategies to understand and incorporate parents' perceptions and causal attributions of their children's weight may improve communication about weight control.

  2. Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.

    Science.gov (United States)

    Hamlington, Barbara; Ivey, Lauren E; Brenna, Ethan; Biesecker, Leslie G; Biesecker, Barbara B; Sapp, Julie C

    2015-01-01

    A child's obesity is generally perceived by the public to be under the control of the child's parents. While the health consequences of childhood obesity are well understood, less is known about psychological and social effects of having an obese child on parents. We set out to characterize stigma and courtesy stigma experiences surrounding obesity among children with Bardet-Biedl syndrome (BBS), a multisystem genetic disorder, and their parents. Twenty-eight parents of children with BBS participated in semi-structured interviews informed by social stigmatization theory, which describes courtesy stigma as parental perception of stigmatization by association with a stigmatized child. Parents were asked to describe such experiences. Parents of children with BBS reported the child's obesity as the most frequent target of stigmatization. They perceived health care providers as the predominant source of courtesy stigma, describing interactions that resulted in feeling devalued and judged as incompetent parents. Parents of children with BBS feel blamed by others for their child's obesity and described experiences that suggest health care providers may contribute to courtesy stigma and thus impede effective communication about managing obesity. Health care providers may reinforce parental feelings of guilt and responsibility by repeating information parents may have previously heard and ignoring extremely challenging barriers to weight management, such as a genetic predisposition to obesity. Strategies to understand and incorporate parents' perceptions and causal attributions of their children's weight may improve communication about weight control.

  3. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.

    Science.gov (United States)

    Huang, Lan; Couto, Javier A; Pinto, Anna; Alexandrescu, Sanda; Madsen, Joseph R; Greene, Arin K; Sahin, Mustafa; Bischoff, Joyce

    2017-02-01

    Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain. Two human SWS brain specimens were fractionated by fluorescence-activated cell sorting into hematopoietic (CD45), endothelial (CD31, VE-Cadherin, and vascular endothelial growth factor receptor 2), and perivascular (platelet-derived growth factor receptor beta) cells and cells negative for all markers. The sorted cell populations were analyzed for GNAQ p.R183Q mutation by droplet digital polymerase chain reaction. SWS patient-derived brain endothelial cells were selected by anti-CD31-coated magnetic beads and cultured in endothelial growth medium in vitro. The GNAQ p.R183Q mutation was present in brain endothelial cells in two SWS specimens, with mutant allelic frequencies of 34.7% and 24.0%. Cells negative for all markers also harbored the GNAQ mutation. The mutant allelic frequencies in these unidentified cells were 9.2% and 8.4%. SWS patient-derived brain endothelial cells with mutant allelic frequencies of 14.7% and 21% survived and proliferated in vitro. Our study provides evidence that GNAQ p.R183Q mutation is enriched in endothelial cells in SWS brain lesions and thereby reveals endothelial cells as a source of aberrant Gαq signaling. This will help to understand the pathophysiology of SWS, to discover biomarkers for predicting cerebral involvement, and to develop therapeutic targets to prevent neurological impairments in SWS. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. 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.

  5. Characterization of the Cytokine Immune Response in Children Who Have Experienced an Episode of Typical Hemolytic-Uremic Syndrome

    OpenAIRE

    Westerholt, Soeren; Pieper, Anne-Kathrin; Griebel, Martin; Volk, Hans-Dieter; Hartung, Thomas; Oberhoffer, Renate

    2003-01-01

    The lipopolysaccharide (LPS) of enterohemorrhagic Escherichia coli (EHEC) and Shiga toxin together substantially contribute to the pathophysiology of typical hemolytic-uremic syndrome (HUS). Both factors have been shown to be immune stimulators and could play a key role in the individual innate immune response, characterized by proinflammatory and anti-inflammatory cytokines. By use of a whole blood stimulation model, we therefore compared the LPS- and superantigen-induced cytokine responses ...

  6. Characterization of liver changes in ZSF1 rats, an animal model of metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Marta Borges-Canha

    Full Text Available Background: The non-alcoholic fatty liver disease is the hepatic counterpart of the metabolic syndrome. ZSF1 rats are a metabolic syndrome animal model in which liver changes have not been described yet. Aim: The characterization of liver histological and innate immunity changes in ZSF1 rats. Methods: Five groups of rats were included (n = 7 each group: healthy Wistar-Kyoto control rats (Ctrl, hypertensive ZSF1 lean (Ln, ZSF1 obese rats with a normal diet (Ob, ZSF1 obese rates with a high-fat diet (Ob-HFD, and ZSF1 obese rats with low-intensity exercise training (Ob-Ex. The animals were sacrificed at 20 weeks of age, their livers were collected for: a measurements of the area of steatosis, fibrosis and inflammation (histomorphological analysis; and b innate immunity (toll-like receptor [TLR] 2, TLR4, peroxisome proliferator-activated receptor γ [PPARγ], toll interacting protein [TOLLIP] and inflammatory marker (tumor necrosis factor-alpha [TNFvs], interleukin 1 [IL-1] expression analysis by real-time PCR. Results: Ob, Ob-HFD and Ob-Ex were significantly heavier than Ln and Ctrl animals. Ob, Ob-HFD and Ob-Ex animals had impaired glucose tolerance and insulin resistance. ZSF1 Ob, Ob-HFD and Ob-Ex presented a higher degree of steatosis (3,5x; p < 0.05 than Ctrl or ZSF1 Ln rats. Steatohepatitis and fibrosis were not observed in any of the groups. No differences in expression were observed between Ctrl, Ln and Ob animals (except for the significantly higher expression of TOLLIP observed in the Ob vs Ln comparison. Ob-HFD and Ob-Ex rats showed increased expression of PPARγ and TOLLIP as compared to other groups. However, both groups also showed increased expression of TLR2 and TLR4. Nevertheless, this did not translate into a differential expression of TNFα or IL-1 in any of the groups. Conclusion: The ZSF1 model is associated with liver steatosis but not with steatohepatitis or a significantly increased expression of innate immunity or

  7. Molecular characterization of Campylobacter jejuni from patients with Guillain-Barré and Miller Fisher syndromes

    NARCIS (Netherlands)

    H.P. Endtz (Hubert); F.G. Rodgers; W.M. Johnson; A.F. van Belkum (Alex); J.A. Wagenaar (Jaap); H.A. Verbrugh (Henri); B.C. Jacobs (Bart); C.W. Ang (Wim); N.P.W.C.J. van den Braak (Nicole); B. Duim; A. Rigter; L.J. Price; D.L. Woodward

    2000-01-01

    textabstractCampylobacter jejuni has been identified as the predominant cause of antecedent infection in Guillain-Barre syndrome (GBS) and Miller Fisher syndrome (MFS). The risk of developing GBS or MFS may be higher after infection with specific C. jejuni types. To

  8. Characterization of patients with systemic lupus erythematosus who meet the diagnostic criteria for TAFRO syndrome.

    Science.gov (United States)

    Hasegawa, E; Sato, H; Wada, Y; Takai, K; Wakamatsu, A; Nozawa, Y; Nakatsue, T; Kuroda, T; Suzuki, Y; Nakano, M; Narita, I

    2018-03-01

    Purpose TAFRO syndrome is a novel disorder manifesting as fever, anasarca, thrombocytopenia, renal insufficiency and organomegaly, and its etiology has not been clarified. The aim of this study was to elucidate similarities and differences between systemic lupus erythematosus (SLE) and TAFRO syndrome. Methods We examined 46 consecutive patients diagnosed with SLE and determined whether they meet the proposed diagnostic criteria for TAFRO syndrome (2015 version). Results Of the 46 patients with SLE, four (8.7%) also met the TAFRO syndrome criteria (TAFRO-like group). All patients in the TAFRO-like group were males, and their mean age was significantly higher than that of the non-TAFRO group (67.5 ± 8.7 vs. 39.3 ± 18.1 years, p = 0.004). C-reactive protein and γ-glutamyl transpeptidase levels were significantly higher, and frequencies of anti-dsDNA and anti-Sm antibodies were significantly lower in the TAFRO-like than non-TAFRO group. Elder cases (onset age ≥ 50 years) met significantly more categories of the diagnostic criteria for TAFRO syndrome than did those with younger cases. Conclusions Several patients with SLE, especially elder cases, showed features similar to those of TAFRO syndrome. Although exclusion of SLE is needed in the diagnostic criteria for TAFRO syndrome, TAFRO syndrome-like SLE should be considered.

  9. Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

    NARCIS (Netherlands)

    Croonen, E.A.; Burgt, I. van der; Kapusta, L.; Draaisma, J.M.T.

    2008-01-01

    Noonan syndrome is a developmental disorder with distinctive facial features, short stature and cardiac abnormalities. In this cross-sectional study, we evaluated characteristic electrocardiographic (ECG) findings and cardiac abnormalities in 84 patients with Noonan syndrome, 56 (67%) of who were

  10. Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.

    Science.gov (United States)

    Sorusch, Nasrin; Bauß, Katharina; Plutniok, Janet; Samanta, Ananya; Knapp, Barbara; Nagel-Wolfrum, Kerstin; Wolfrum, Uwe

    2017-03-15

    The Usher syndrome (USH) is the most common form of inherited deaf-blindness, accompanied by vestibular dysfunction. Due to the heterogeneous manifestation of the clinical symptoms, three USH types (USH1-3) and additional atypical forms are distinguished. USH1 and USH2 proteins have been shown to function together in multiprotein networks in photoreceptor cells and hair cells. Mutations in USH proteins are considered to disrupt distinct USH protein networks and finally lead to the development of USH.To get novel insights into the molecular pathomechanisms underlying USH, we further characterize the periciliary USH protein network in photoreceptor cells. We show the direct interaction between the scaffold protein SANS (USH1G) and the transmembrane adhesion protein ush2a and that both assemble into a ternary USH1/USH2 complex together with the PDZ-domain protein whirlin (USH2D) via mutual interactions. Immunohistochemistry and proximity ligation assays demonstrate co-localization of complex partners and complex formation, respectively, in the periciliary region, the inner segment and at the synapses of rodent and human photoreceptor cells. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. The maintenance of USH1/USH2 protein complexes depends on multiple USH1/USH2 protein interactions, which are disrupted by pathogenic mutations in USH1G protein SANS. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. Characterization of obstructive sleep apnea-hypopnea syndrome (OSA) population by means of cluster analysis.

    Science.gov (United States)

    Lacedonia, Donato; Carpagnano, Giovanna Elisiana; Sabato, Roberto; Storto, Maria Maddalena Lo; Palmiotti, Giuseppe Antonio; Capozzi, Vito; Barbaro, Maria Pia Foschino; Gallo, Crescenzio

    2016-12-01

    Obstructive sleep apnea-hypopnea syndrome (OSA) is being identified increasingly as an important health issue. It is typified by repeated episodes of upper airway collapse during sleep leading to occasional hypoxaemia, sleep fragmentation and poor sleep quality. OSA is also being considered as an independent risk factor for hypertension, diabetes and cardiovascular diseases, leading to increased multi-morbidity and mortality. Cluster analysis, a powerful statistical set of techniques, may help in investigating and classifying homogeneous groups of patients with similar OSA characteristics. This study aims to investigate the (possible) different groups of patients in an OSA population, and to analyse the relationships among the main clinical variables in each group to better understand the impact of OSA on patients. Starting from a well-characterized OSA population of 198 subjects afferent to our sleep centre, we identified three different communities of OSA patients. The first has a very severe disease [apnea-hypopnea index (AHI) = 65.91 ± 22.47] and sleep disorder has a strong impact on daily life: a low level of diurnal partial pressure of oxygen (PaO2 ) (77.39 ± 11.64 mmHg) and a high prevalence of hypertension (64%); the second, with less severe disease (AHI = 28.88 ± 17.13), in which sleep disorders seem to be less important for diurnal PaO2 and have a minimum impact on comorbidity; and the last with very severe OSA (AHI = 57.26 ± 15.09) but with a low risk of nocturnal hypoxaemia (T90 = 11.58 ± 8.54) and less sleepy (Epworth Sleepiness Scale 10.00 ± 4.77). © 2016 European Sleep Research Society.

  12. Characterization of adult onset growth hormone deficiency syndrome in patients with hypothalamopituitary diseases: Asian Indian data

    Directory of Open Access Journals (Sweden)

    Bandgar T

    2008-01-01

    Full Text Available Background: Hardly any data is available on Adult onset growth hormone deficiency (AOGHD in Patients with hypothalamopituitary diseases in India. Aims: To characterize Asian Indian AOGHD syndrome in hypothalamopituitary diseases. Settings and Design: Cross-sectional analysis of data from a tertiary care hospital. Materials and Methods: Thirty patients with AOGHD were compared with 30 age-, sex-, body mass index-matched controls with respect to endocrine evaluation, biochemistry, body composition (BC, bone mineral density (BMD, cardiovascular risk profile and quality of life (QoL. Statistical Analysis Used: Comparisons were performed using two-tailed Student′s test (SPSS Software version 10.0. Results: Most of the patients had abnormal BC with central obesity [Truncal FM (%: males {33.9±4.4 (patient vs. 29.31±6.2 (control; P -0.027}; females {39.87±5.93 (patient vs. 35.76±3.16 (control; P - 0.025}] and poor QoL. Patients aged over 45 years did not show low bone mass or lipid abnormalities as compared to controls. Low BMD and abnormal lipid profile {Triglycerides [mg/dl]:170.55±72.5 (patient vs101.24±31.0 (control; P -0.038}; {very low density lipoprotein cholesterol [mg/dl]: 33.54±14.9 (patient vs. 20.25±6.18 (control; P - 0.05} was seen in female patients less than 45 years of age. Conclusions: Male and female (more than 45 years AOGHD patients have increased cardiovascular risk factors and poor QoL while BMD is unaffected. Females less than 45 years of age have the major characteristics of AOGHD and would be the group to benefit maximally with recombinant human Growth Hormone treatment, which is similar to that in the western literature.

  13. Cytogenetic and molecular characterization of 57 individuals with the Parder-Willi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Butler, M.G.; Forrest, K.B.; Miller, L.K. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)

    1994-09-01

    Prader-Willi syndrome (PWS) is characterized by hypotonia, early childhood obesity, mental deficiency, hypogonadism and an interstitial deletion of 15q11q13 of paternal origin in 50-70% of patients. The remaining patients have either submicroscopic deletions, maternal disomy or other anomalies of chromosome 15. We have undertaken cytogenetic and molecular genetic studies of 57 individuals presenting with features consistent with PWS (28 males and 29 females; age range of 3 months to 38 years), 25 with recognizable 15q11q13 deletions (44%), 28 with normal appearing chromosomes (49%), and four patients with other chromosome 15 anomalies (7%). High resolution chromosome analysis and PCR amplification were performed utilizing 17 STRs from 15q11q13 region, quantitative Southern hybridization using seven 15q11q13 probes, and fluorescence in situ hybridization (FISH) using four 15q11q13 probes (4-3R, SNRPN, 3-21, and GABRB3). The cytogenetic deletion was paternal in all PWS families studied but the deletion varied in size in 10 patients. Parental DNA studies from 20 of 28 non-deletion patients showed maternal disomy in 7 patients and biparental inheritance in 13 non-deletion patients. In order to evaluate for submicroscopic deletions, PCR amplification with several loci in the area of the PWS minimal critical region, FISH using SNRPN and quantitative hybridization using a PCR product generated from primers of exons E and H of the SNRPN gene were undertaken on the non-deletion patients. Quantitative hybridization and FISH using SNRPN from 3 of 11 non-deletion patients (excluding maternal disomy cases) showed a submicroscopic deletion. One of these patients also showed a paternal deletion of D15S128 and MN1. We furthur support the use of both cytogenetic and molecular genetic methods for determining the genetic status of PWS patients.

  14. [Clinical analysis of 51 cases of atypical measles syndrome characterized by fever and multiple lung lesions].

    Science.gov (United States)

    Pang, Min; Xu, Jian-Ying; Li, Ping; Han, Xiao-Xia; Li, Ming-Yi

    2008-10-01

    To investigate the clinical and chest radiological features of atypical measles syndrome (AMS), and therefore to improve the recognition and diagnosis of the disease. The clinical features, laboratory tests and chest radiological manifestations of 51 cases of outbreak AMS in one high school of Shanxi province were retrospectively analyzed. There were 31 males and 20 females, aging 18 - 33 years old. The main clinical presentations included fever (50/51), headache and dizziness (44/51), fatigue (31/51), nasal discharge (1/51), sore throat (10/51), cough (5/51), dyspnea (3/51), dacryorrhea (13/51), Koplik's spots (1/51), and skin rash (18/51) which were mostly congested maculopapules and firstly appeared on the hands, the feet and the back. Laboratory tests showed that the peripheral WBC count was in the normal range in most of the patients (n = 39), and lower than normal in 7 cases. The percentage of lymphocytes was less than 20% in 29, 20% - 40% in 20, and higher than 40% in 2 cases. The percentage of neutrophils was higher than 70% in 33 cases. Abnormal urinalysis (13/51) included positive urine protein and OB. High CRP (36/51), abnormal liver function (2/51), and abnormal renal function (1/51) were also observed. Forty-eight cases showed abnormal chest CT, manifested mostly as bilateral multiple lesions of different sizes and low density nodules and patchy areas, distributed randomly from apex to base, and from the middle zone to the pleura. The clinical manifestation of AMS is atypical, characterized by the lower incidence of catarrh symptom and skin rashes with atypical appearance, but higher incidence of lung lesions. Familiarity with the atypical clinical manifestations and radiological features of AMS, epidemiological study and measles antibody detection are important for rapid and accurate diagnosis of the disease.

  15. Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

    Science.gov (United States)

    Yokoyama-Rebollar, Emiy; Ruiz-Herrera, Adriana; Lieberman-Hernández, Esther; Del Castillo-Ruiz, Victoria; Sánchez-Sandoval, Silvia; Ávila-Flores, Silvia M; Castrillo, José Luis

    2015-01-01

    The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation. A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia. G-banding chromosome analysis established the diagnosis of Angelman Syndrome resulting from a familial translocation t(10;15) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results: a coincidental and smaller 15q deletion, asymptomatic duplications in 15q11.2 and Xp22.31 regions. This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone. Our report also expands two molecularly characterized rare patient cohorts: Angelman Syndrome patients due to familial translocations and patients with 15q11.2 duplications of paternal origin.

  16. Characterization of Human Vaginal Mucosa Cells for Autologous In Vitro Cultured Vaginal Tissue Transplantation in Patients with MRKH Syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Nodale

    2014-01-01

    Full Text Available Mayer-Rokitansky-Küster-Hauser (MRKH is a rare syndrome characterized by congenital aplasia of the uterus and vagina. The most common procedure used for surgical reconstruction of the neovagina is the McIndoe vaginoplasty, which consists in creation of a vaginal canal covered with a full-thickness skin graft. Here we characterized the autologous in vitro cultured vaginal tissue proposed as alternative material in our developed modified McIndoe vaginoplasty in order to underlie its importance in autologous total vaginal replacement. To this aim human vaginal mucosa cells (HVMs were isolated from vaginal mucosa of patients affected by MRKH syndrome and characterized with respect to growth kinetics, morphology, PAS staining, and expression of specific epithelial markers by immunofluorescence, Western blot, and qRT-PCR analyses. The presence of specific epithelial markers along with the morphology and the presence of mucified cells demonstrated the epithelial nature of HMVs, important for an efficient epithelialization of the neovagina walls and for creating a functional vaginal cavity. Moreover, these cells presented characteristics of effective proliferation as demonstrated by growth kinetics assay. Therefore, the autologous in vitro cultured vaginal tissue might represent a highly promising and valid material for McIndoe vaginoplasty.

  17. Characterization and risk estimate of cancer in patients with primary Sjögren syndrome.

    Science.gov (United States)

    Brito-Zerón, Pilar; Kostov, Belchin; Fraile, Guadalupe; Caravia-Durán, Daniel; Maure, Brenda; Rascón, Francisco-Javier; Zamora, Mónica; Casanovas, Arnau; Lopez-Dupla, Miguel; Ripoll, Mar; Pinilla, Blanca; Fonseca, Eva; Akasbi, Miriam; de la Red, Gloria; Duarte-Millán, Miguel-Angel; Fanlo, Patricia; Guisado-Vasco, Pablo; Pérez-Alvarez, Roberto; Chamorro, Antonio J; Morcillo, César; Jiménez-Heredia, Iratxe; Sánchez-Berná, Isabel; López-Guillermo, Armando; Ramos-Casals, Manuel

    2017-04-17

    The purpose of this study is to characterize the risk of cancer in a large cohort of patients with primary Sjögren syndrome (SjS). We had analyzed the development of cancer in 1300 consecutive patients fulfilling the 2002 SjS classification criteria. The baseline clinical and immunological characteristics and systemic activity (ESSDAI scores) were assessed at diagnosis as predictors of cancer using Cox proportional hazards regression analysis adjusted for age at diagnosis and gender. The sex-and age-specific standardized incidence ratios (SIR) of cancer were estimated from 2012 Spanish mortality data. After a mean follow-up of 91 months, 127 (9.8%) patients developed 133 cancers. The most frequent type of cancer was B-cell lymphoma (including 27 MALT and 19 non-MALT B-cell lymphomas). Systemic activity at diagnosis of primary SjS correlated with the risk of hematological neoplasia and cryoglobulins with a high risk of either B-cell or non-B-cell lymphoma subtypes. Patients with cytopenias had a high risk of non-MALT B-cell and non-B-cell cancer, while those with low C3 levels had a high risk of MALT lymphomas and those with monoclonal gammopathy and low C4 levels had a high risk of non-MALT lymphomas. The estimated SIR for solid cancer was 1.13 and 11.02 for hematological cancer. SIRs for specific cancers were 36.17 for multiple myeloma and immunoproliferative diseases, 19.41 for Hodgkin lymphoma, 6.04 for other non-Hodgkin lymphomas, 5.17 for thyroid cancer, 4.81 for cancers of the lip and oral cavity, and 2.53 for stomach cancer. One third of cancers developed by patients with primary SjS are B-cell lymphomas. The prognostic factors identified at SjS diagnosis differed according to the subtype of B-cell lymphoma developed. Primary SjS is also associated with the development of some non-hematological cancers (thyroid, oral cavity, and stomach).

  18. Detection and molecular characterization of enteric viruses from poult enteritis syndrome in turkeys.

    Science.gov (United States)

    Jindal, N; Patnayak, D P; Chander, Y; Ziegler, A F; Goyal, S M

    2010-02-01

    This study was conducted to detect and characterize enteric viruses [rotavirus, turkey astrovirus-2 (TAstV-2), reovirus, and turkey coronavirus] from cases of poult enteritis syndrome (PES) in Minnesota turkeys. Of the intestinal contents collected from 43 PES cases, 25 were positive for rotavirus and 13 for small round viruses by electron microscopy (EM). Of the enteric virus-positive cases by EM (n=27), 16 cases had rotavirus or small round viruses alone and the remaining 11 cases had both viruses. None of the cases were positive for reovirus or coronavirus by EM. However, with reverse transcription-PCR (RT-PCR), 40 cases (93%) were positive for rotavirus, 36 (84%) for TAstV-2, and 17 (40%) for reovirus. None of the cases were positive for turkey coronavirus by RT-PCR. The viruses from all cases were detected either alone or in combination of 2 or 3 by RT-PCR. Thus, 8 (19%) cases were positive for a single virus, whereas a combination of viruses was detected in the remaining 35 (81%) cases. The rota-TAstV-2 combination was the most predominant (n=18 cases). Fifteen cases were positive for all 3 viruses. The rotaviruses had sequence homology of 89.8 to 100% with previously published sequences of turkey rotaviruses at the nucleotide level. The TAstV-2 had sequence homology of 84.6 to 98.7% with previously published TAstV-2, whereas reoviruses had sequence homology of 91.6 to 99.3% with previously published sequences of turkey reoviruses. Phylogenetic analysis revealed that rota- and reoviruses clustered in a single group, whereas TAstV-2 clustered in 2 different groups. In conclusion, a larger number of PES cases was positive for rotavirus, TAstV-2, and reovirus by RT-PCR than with EM. The presence of more than one virus and changes at the genetic level in a virus may affect the severity of PES in turkey flocks.

  19. Characterization and risk estimate of cancer in patients with primary Sjögren syndrome

    Directory of Open Access Journals (Sweden)

    Pilar Brito-Zerón

    2017-04-01

    Full Text Available Abstract Background The purpose of this study is to characterize the risk of cancer in a large cohort of patients with primary Sjögren syndrome (SjS. Methods We had analyzed the development of cancer in 1300 consecutive patients fulfilling the 2002 SjS classification criteria. The baseline clinical and immunological characteristics and systemic activity (ESSDAI scores were assessed at diagnosis as predictors of cancer using Cox proportional hazards regression analysis adjusted for age at diagnosis and gender. The sex-and age-specific standardized incidence ratios (SIR of cancer were estimated from 2012 Spanish mortality data. Results After a mean follow-up of 91 months, 127 (9.8% patients developed 133 cancers. The most frequent type of cancer was B-cell lymphoma (including 27 MALT and 19 non-MALT B-cell lymphomas. Systemic activity at diagnosis of primary SjS correlated with the risk of hematological neoplasia and cryoglobulins with a high risk of either B-cell or non-B-cell lymphoma subtypes. Patients with cytopenias had a high risk of non-MALT B-cell and non-B-cell cancer, while those with low C3 levels had a high risk of MALT lymphomas and those with monoclonal gammopathy and low C4 levels had a high risk of non-MALT lymphomas. The estimated SIR for solid cancer was 1.13 and 11.02 for hematological cancer. SIRs for specific cancers were 36.17 for multiple myeloma and immunoproliferative diseases, 19.41 for Hodgkin lymphoma, 6.04 for other non-Hodgkin lymphomas, 5.17 for thyroid cancer, 4.81 for cancers of the lip and oral cavity, and 2.53 for stomach cancer. Conclusions One third of cancers developed by patients with primary SjS are B-cell lymphomas. The prognostic factors identified at SjS diagnosis differed according to the subtype of B-cell lymphoma developed. Primary SjS is also associated with the development of some non-hematological cancers (thyroid, oral cavity, and stomach.

  20. Isolation and Characterization of a Novel Bat Coronavirus Closely Related to the Direct Progenitor of Severe Acute Respiratory Syndrome Coronavirus.

    Science.gov (United States)

    Yang, Xing-Lou; Hu, Ben; Wang, Bo; Wang, Mei-Niang; Zhang, Qian; Zhang, Wei; Wu, Li-Jun; Ge, Xing-Yi; Zhang, Yun-Zhi; Daszak, Peter; Wang, Lin-Fa; Shi, Zheng-Li

    2015-12-30

    We report the isolation and characterization of a novel bat coronavirus which is much closer to the severe acute respiratory syndrome coronavirus (SARS-CoV) in genomic sequence than others previously reported, particularly in its S gene. Cell entry and susceptibility studies indicated that this virus can use ACE2 as a receptor and infect animal and human cell lines. Our results provide further evidence of the bat origin of the SARS-CoV and highlight the likelihood of future bat coronavirus emergence in humans. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  1. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Science.gov (United States)

    Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J M; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna Santos; Delaney, Louisa A; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M C; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H; Ibrahim, Jennifer; Jacob, Claire M; Kant, Sarina G; Kim, Chong Ae; Kirk, Edwin P; Knoers, Nine V A M; Lacombe, Didier; Lee, Chung; Lo, Ivan F M; Lucas, Luiza S; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L; Simon, Marleen E H; Slavotinek, Anne; Temple, I Karen; van der Burgt, Ineke; de Vries, Bert B A; Weisfeld-Adams, James D; Whiteford, Margo L; Wierczorek, Dagmar; Wit, Jan M; Yee, Connie Fung On; Beaulieu, Chandree L; White, Sue M; Bulman, Dennis E; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M

    2013-04-27

    Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

  2. The uncovering and characterization of a CCKoma syndrome in enteropancreatic neuroendocrine tumor patients

    DEFF Research Database (Denmark)

    Rehfeld, Jens F; Federspiel, Birgitte; Agersnap, Mikkel

    2016-01-01

    OBJECTIVE: Neuroendocrine tumors in the pancreas and the gastrointestinal tract may secrete hormones which cause specific syndromes. Well-known examples are gastrinomas, glucagonomas, and insulinomas. Cholecystokinin-producing tumors (CCKomas) have been induced experimentally in rats, but a CCKoma...... attacks from a contracted gallbladder. The CCK concentrations in plasma were not affected by resection of the pancreatic tumor, but decreased to normal after hemihepatectomy with removal of the metastases. CONCLUSION: A CCKoma syndrome with severe hypersecretion of CCK exists in man. The duodenal ulcer...

  3. A Characterization of Movement Skills in Obese Children with and without Prader-Willi Syndrome

    Science.gov (United States)

    Lam, Melanie Y.; Rubin, Daniela A.; Duran, Andrea T.; Chavoya, Frank A.; White, Elizabeth; Rose, Debra J.

    2016-01-01

    Purpose: The aim of this study was twofold: (a) to measure and compare motor proficiency in obese children with Prader-Willi syndrome (OB-PWS) to that in obese children without PWS (OB), and (b) to compare motor proficiency in OB-PWS and OB to normative data. Method: Motor proficiency was measured using the Bruininks-Oseretsky Test of Motor…

  4. Stretch reflex responses in Complex Regional Pain Syndrome-related dystonia are not characterized by hyperreflexia

    NARCIS (Netherlands)

    Mugge, W.; Schouten, Alfred Christiaan; Bast, G.J.; Schuurmans, J.; van Hilten, J.J.; van der Helm, F.C.T.

    2012-01-01

    Objective To evaluate if hyperreflexia (exaggerated reflexes) due to disinhibition is associated with dystonia in Complex Regional Pain Syndrome (CRPS). Methods Stretch reflexes at the wrist were assessed in healthy controls (n = 10) and CRPS-patients with dystonia (n = 10). Subjects exerted a wrist

  5. Functional characterization of MLH1 missaense variants identified in lynch syndrome patients

    DEFF Research Database (Denmark)

    Andersen, Sofie Dabros; Liberti, Sascha Emilie; Lützen, Anne

    2012-01-01

    Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer or HNPCC. A proportion of MSH2 and MLH1 mutations found in suspected LS patients give rise t...

  6. Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes

    Directory of Open Access Journals (Sweden)

    Bijal Vyas

    2016-01-01

    Conclusions: This study in a cohort of Asian Indian patients highlights the mutation spectrum of common Long QT syndromes. The clinical utility for prevention of unexplained sudden cardiac deaths is an important sequel to identification of the mutation in at-risk family members.

  7. [Characterization of the linguistic profile of a family with Perisylvian Syndrome].

    Science.gov (United States)

    de Oliveira, Ecila Paula dos Mesquita; Guerreiro, Marilisa Mantovani; Guimarães, Catarina Abraão; Brandão-Almeida, Iara Lêda; Montenegro, Maria Augusta; Cendes, Fernando; Hage, Simone Rocha de Vasconcellos

    2005-01-01

    Perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical spectrum includes subtle language disturbances on one end and more severe characteristics such as prominent pseudobulbar signs and refractory epilepsy on the other end. Other studies have already associated perisylvian polymicrogyria with developmental language disorders or specific language impairment. to describe the language deficits of four members of a family with Perisylvian Syndrome, and to correlate these deficits to neuroimaging data. The patients underwent neuroimaging investigation, psychological assessment using the Weschler Intelligence Scales, and specific speech-language evaluation. The following tests were used for the assessment of vocabulary, phonology, syntax, pragmatics, reading and writing: Thematical Pictures of Yavas, ABFW-Child Language Test, Peabody Picture Vocabulary Test (PPVT), and other specific protocols. Magnetic resonance imaging revealed perisylvian polymicrogyria in all of the subjects, with varied locations and extensions. Speech-language assessment indicated significant oral and written language deficits in all of the subjects. The obtained data indicate that language impairment can co-exist with reading deficits in members of the same family. Neuroimaging findings reveal cortical alterations that are associated to specific language impairments within the spectrum of the Perisylvian Syndrome. Another important aspect evidenced by this study is the similarities in the language profiles of siblings and mother, suggesting that a variety of linguistic manifestations exist within the spectrum of the syndrome. Perisylvian polymicrogyria can be one of the neurobiological malformations involved in the manifestation of these deficits.

  8. Metabolic profiles characterizing different phenotypes of polycystic ovary syndrome: plasma metabolomics analysis

    OpenAIRE

    Zhao, Yue; Fu, Li; Li, Rong; Wang, Li-Na; Yang, Yan; Liu, Na-Na; Zhang, Chun-Mei; Wang, Ying; Liu, Ping; Tu, Bin-Bin; Zhang, Xue; Qiao, Jie

    2012-01-01

    Background Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder accompanied with an increased risk of developing type 2 diabetes mellitus and cardiovascular disease; despite being a common condition, the pathogenesis of PCOS remains unclear. Our aim was to investigate the potential metabolic profiles for different phenotypes of PCOS, as well as for the early prognosis of complications. Methods A total of 217 women with PCOS and 48 healthy women as normal controls were studie...

  9. A physiological characterization of the Cafeteria diet model of metabolic syndrome in the rat.

    Science.gov (United States)

    Gomez-Smith, Mariana; Karthikeyan, Sudhir; Jeffers, Matthew S; Janik, Rafal; Thomason, Lynsie A; Stefanovic, Bojana; Corbett, Dale

    2016-12-01

    Many promising findings from pre-clinical research have failed to translate to the clinic due to their inability to incorporate human disease co-morbidity. A variety of rodent diets and feeding durations are currently used in models of human metabolic syndrome, obesity and diabetes. One model, the Cafeteria (CAF) diet, makes use of grocery store-purchased food items that more closely approximate the human ultra-processed diet than commercial high-fat or high-sugar rodent diets. The present study describes the development of metabolic syndrome in rats fed a CAF diet as well as the recovery of metabolic syndrome following a healthy "lifestyle" change. In addition, we explored the effects of CAF diet on spatial learning and memory and on neuroinflammation. Three-week old male Sprague-Dawley rats were fed a CAF diet for three months that consisted of 16 highly palatable human food items along with standard chow and a 12% sucrose solution to mimic soda consumption. Thereafter, a sub-group of CAF diet rats was switched to a chow diet (SWT) for one month. Both CAF and SWT groups were compared to control rats maintained on a standard chow diet (SD). Prior to the diet switch, CAF and SWT animals developed features akin to metabolic syndrome. Both groups of rats displayed significant abdominal obesity with increased visceral adiposity, hyperinsulinemia, glucose intolerance and dyslipidemia with elevated serum triglyceride levels and reduced HDL cholesterol. Switching to a chow diet for one month completely reversed these features in SWT animals. Although acquisition of the Barnes maze was not affected by the CAF diet, these animals exhibited greater hippocampal neuroinflammation compared to both SD and SWT rats as assessed by Iba1 staining. These results demonstrate that the CAF diet is very effective in creating metabolic syndrome with hippocampal inflammation in rats over a relatively short time span. This model may be of great heuristic importance in determining potential

  10. Characterization of Whole Body Pain in Urological Chronic Pelvic Pain Syndrome at Baseline: A MAPP Research Network Study.

    Science.gov (United States)

    Lai, H Henry; Jemielita, Thomas; Sutcliffe, Siobhan; Bradley, Catherine S; Naliboff, Bruce; Williams, David A; Gereau, Robert W; Kreder, Karl; Clemens, J Quentin; Rodriguez, Larissa V; Krieger, John N; Farrar, John T; Robinson, Nancy; Landis, J Richard

    2017-09-01

    We characterized the location and spatial distribution of whole body pain in patients with urological chronic pelvic pain syndrome using a body map. We also compared the severity of urinary symptoms, pelvic pain, nonpelvic pain and psychosocial health among patients with different pain patterns. A total of 233 women and 191 men with urological chronic pelvic pain syndrome enrolled in a multicenter, 1-year observational study completed a battery of baseline measures, including a body map describing the location of pain during the last week. Participants were categorized with pelvic pain if they reported pain in the abdomen and pelvis only. Participants who reported pain beyond the pelvis were further divided into 2 subgroups based on the number of broader body regions affected by pain, including an intermediate group with 1 or 2 additional regions outside the pelvis and a widespread pain group with 3 to 7 additional regions. Of the 424 enrolled patients 25% reported pelvic pain only and 75% reported pain beyond the pelvis, of whom 38% reported widespread pain. Participants with a greater number of pain locations had greater nonpelvic pain severity (p pelvic pain and urinary symptom severity was observed according to increasing pain distribution. Three-quarters of the men and women with urological chronic pelvic pain syndrome reported pain outside the pelvis. Widespread pain was associated with greater severity of nonpelvic pain symptoms, poorer psychosocial health and worse quality of life but not with worse pelvic pain or urinary symptoms. Copyright © 2017 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  11. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

    Science.gov (United States)

    Vera-Carbonell, Ascensión; Bafalliu, Juan Antonio; Guillén-Navarro, Encarna; Escalona, Ariadna; Ballesta-Martínez, María J; Fuster, Carme; Fernández, Asunción; López-Expósito, Isabel

    2009-11-01

    Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. Copyright 2009 Wiley-Liss, Inc.

  12. Characterization of culturable bacterial flora in yolk-sac larvae of Atlantic halibut (Hippoglossus hippoglossus L. with "gaping jaws" syndrome

    Directory of Open Access Journals (Sweden)

    Rocío Urtubia

    2014-03-01

    Full Text Available One of the main problems facing Atlantic halibut hatcheries is the high mortality in the early stages of larval development. Several factors could be involved, for example: water quality, diseases or abnormalities, such as deformities occurring in the yolk sac larvae prior to exogenous feeding. The aim of this study was to identify differences in bacterial flora associated with yolk sac larvae with oral deformity. We also aimed to establish whether there is any relationship between bacterial strains and the "gaping jaws" syndrome. During our study, 74 bacterial isolates were obtained using three different nutrient media: Marine Agar, R2A and TCBS. Some of these bacteria were characterized using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP and 16S rRNA sequencing. The immune response in larvae exhibiting the "gaping jaws" condition was measured by real time PCR. Our results showed significant differences in bacterial flora between normal and gaping larvae. The gaping yolk sac larvae were predominantly colonized by members of the families Vibrionaceae and Flavobacteriaceae. Bacteria belonging to the Bacillus and Pseudoalteromonas genera were also present but less frequent. It was not possible to associate a type or group of bacteria directly related to "gaping". Strikingly, larvae with gaping jaws had an increase in the expression of two immune related genes, like hepcidin and chemokine (MIP-1B. These results indicate activation of the immune response in larvae with "gaping jaws" syndrome and this response could be related to bacteria isolated from gaping condition.

  13. Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization.

    Science.gov (United States)

    Muscatello, L V; Benazzi, C; Dittmer, K E; Thompson, K G; Murgiano, L; Drögemüller, C; Avallone, G; Gentile, A; Edwards, J F; Piffer, C; Bolcato, M; Brunetti, B

    2015-09-01

    Ellis-van Creveld (EvC) syndrome is a human autosomal recessive disorder caused by a mutation in either the EVC or EVC2 gene, and presents with short limbs, polydactyly, and ectodermal and heart defects. The aim of this study was to understand the pathologic basis by which deletions in the EVC2 gene lead to chondrodysplastic dwarfism and to describe the morphologic, immunohistochemical, and molecular hallmarks of EvC syndrome in cattle. Five Grey Alpine calves, with a known mutation in the EVC2 gene, were autopsied. Immunohistochemistry was performed on bone using antibodies to collagen II, collagen X, sonic hedgehog, fibroblast growth factor 2, and Ki67. Reverse transcription polymerase chain reaction was performed to analyze EVC1 and EVC2 gene expression. Autopsy revealed long bones that were severely reduced in length, as well as genital and heart defects. Collagen II was detected in control calves in the resting, proliferative, and hypertrophic zones and in the primary and secondary spongiosa, with a loss of labeling in the resting zone of 2 dwarfs. Collagen X was expressed in hypertrophic zone in the controls but was absent in the EvC cases. In affected calves and controls, sonic hedgehog labeled hypertrophic chondrocytes and primary and secondary spongiosa similarly. FGF2 was expressed in chondrocytes of all growth plate zones in the control calves but was lost in most EvC cases. The Ki67 index was lower in cases compared with controls. EVC and EVC2 transcripts were detected. Our data suggest that EvC syndrome of Grey Alpine cattle is a disorder of chondrocyte differentiation, with accelerated differentiation and premature hypertrophy of chondrocytes, and could be a spontaneous model for the equivalent human disease. © The Author(s) 2015.

  14. Dusart Syndrome in a Scandinavian family characterized by arterial and venous thrombosis at young age

    DEFF Research Database (Denmark)

    Ramanathan, Ramshanker; Gram, Jørgen; Feddersen, Søren

    2013-01-01

    BACKGROUND: Dysfibrinogenemia is a rare group of qualitative fibrinogen disorders caused by structural abnormalities in the fibrinogen molecule. The laboratory diagnosis of dysfibrinogenemia is controversial. Fibrinogen Paris V, clinically termed Dusart Syndrome, is a dysfibrinogenemia caused...... by a single base substitution in the gene coding for the Aα-chain of the fibrinogen molecule. OBJECTIVES: To diagnose the first Scandinavian family with Fibrinogen Paris V affecting several family members; the proband, a seven-year-old boy with cerebral vein thrombosis. METHODS: The diagnosis was established...... by significantly reduced fibrin polymerization (p p p p

  15. Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-12-01

    Conclusion: Spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization are useful for the prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial monosomy 1p (1p36.23→pter and partial trisomy 20p (20p12.1→pter are associated with ventriculomegaly, ventricular septal defect and midface hypoplasia on prenatal ultrasound. Prenatal diagnosis of ventriculomegaly, congenital heart defects and midface hypoplasia should alert clinicians to chromosome 1p36 deletion syndrome and prompt molecular cytogenetic analysis if necessary.

  16. 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.

  17. 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.

  18. Molecular Characterization of Down Syndrome Embryonic Stem Cells Reveals a Role for RUNX1 in Neural Differentiation

    Directory of Open Access Journals (Sweden)

    Tomer Halevy

    2016-10-01

    Full Text Available Down syndrome (DS is the leading genetic cause of mental retardation and is caused by a third copy of human chromosome 21. The different pathologies of DS involve many tissues with a distinct array of neural phenotypes. Here we characterize embryonic stem cell lines with DS (DS-ESCs, and focus on the neural aspects of the disease. Our results show that neural progenitor cells (NPCs differentiated from five independent DS-ESC lines display increased apoptosis and downregulation of forehead developmental genes. Analysis of differentially expressed genes suggested RUNX1 as a key transcription regulator in DS-NPCs. Using genome editing we were able to disrupt all three copies of RUNX1 in DS-ESCs, leading to downregulation of several RUNX1 target developmental genes accompanied by reduced apoptosis and neuron migration. Our work sheds light on the role of RUNX1 and the importance of dosage balance in the development of neural phenotypes in DS.

  19. New Neonatal Porcine Diarrhea Syndrome in Denmark Characterization of the intestinal lesions and identification of the etiology

    DEFF Research Database (Denmark)

    Jonach, Beata Renata; Jensen, Tim Kåre; Boye, Mette

    with this syndrome.The main focus of the work presented in this PhD thesis was to characterize the morphological changes in the intestinal mucosa of the piglets affected by NNPDS in respect to elucidation of the pathological mechanism and etiology. This was based on systematically performed microscopic investigation...... of the intestinal tissue from the diarrheic and non-diarrheic piglets collected from four herds affected by NNPDS. This investigation included histopathological, morphometrical, immunohistochemical and fluorescence in situ hybridization examination of the intestinal mucosa. In the second part of the PhD project...... intestine. The morphometric study performed on the intestinal tissue showed that the diarrheic piglets had significantly shorter villi, deeper crypts, and thinner mucosa in the jejunum and ileum compared to the non-diarrheic piglets (Manuscript I). Reduction in villus height led to decrease in villus...

  20. Whole-Genome Characterization and Strain Comparison of VT2f-Producing Escherichia coli Causing Hemolytic Uremic Syndrome

    Science.gov (United States)

    Michelacci, Valeria; Bondì, Roslen; Gigliucci, Federica; Franz, Eelco; Badouei, Mahdi Askari; Schlager, Sabine; Minelli, Fabio; Tozzoli, Rosangela; Caprioli, Alfredo; Morabito, Stefano

    2016-01-01

    Verotoxigenic Escherichia coli infections in humans cause disease ranging from uncomplicated intestinal illnesses to bloody diarrhea and systemic sequelae, such as hemolytic uremic syndrome (HUS). Previous research indicated that pigeons may be a reservoir for a population of verotoxigenic E. coli producing the VT2f variant. We used whole-genome sequencing to characterize a set of VT2f-producing E. coli strains from human patients with diarrhea or HUS and from healthy pigeons. We describe a phage conveying the vtx2f genes and provide evidence that the strains causing milder diarrheal disease may be transmitted to humans from pigeons. The strains causing HUS could derive from VT2f phage acquisition by E. coli strains with a virulence genes asset resembling that of typical HUS-associated verotoxigenic E. coli. PMID:27584691

  1. Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

    Science.gov (United States)

    Okamura, Ken; Abe, Yuko; Araki, Yuta; Wakamatsu, Kazumasa; Seishima, Mariko; Umetsu, Takafumi; Kato, Atsushi; Kawaguchi, Masakazu; Hayashi, Masahiro; Hozumi, Yutaka; Suzuki, Tamio

    2018-03-01

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing. Next, we analyzed hair samples from the three patients and representative patients with HPS1 and controls using electron microscopy and chemical methods. All HPS patients had fewer, smaller, and more immature melanosomes than healthy controls. Further, all patients showed reduced total melanin content and increased levels of benzothiazine-type pheomelanin. The results of this study demonstrate the impact of the dysfunctions of BLOCs on the maturation of melanosomes and melanin levels and composition through analysis of their hair samples. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.

    Science.gov (United States)

    Nguyen, Dang Khoa; Rouleau, Isabelle; Sénéchal, Geneviève; Ansaldo, Ana Inés; Gravel, Micheline; Benfenati, Fabio; Cossette, Patrick

    2015-07-01

    We recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11-q21 in a family segregating partial epilepsy and autistic spectrum disorder. Herein, we provide a detailed description of the epileptic syndrome in the original family. A total of 34 members from a large French-Canadian family were evaluated. Family members with seizures or epilepsy underwent (when possible) clinical, neuropsychological, electrophysiologic, and neuroimaging assessments. Epilepsy was diagnosed in 10 family members (4 deceased, 6 living). In addition to occasional spontaneous complex partial seizures, seven family members clearly had reflex seizures triggered by bathing or showering. Hippocampal atrophy was found in two of five epileptic family members family members who underwent magnetic resonance (MR) imaging. Video-electroencephalography (EEG) recordings of three triggered seizures in two affected members showed rhythmic theta activity over temporal head regions. Ictal single-photon emission computed tomography (SPECT) showed temporoinsular perfusion changes. Detailed neuropsychological assessments revealed that SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder. Female carriers also exhibited reading impairments and febrile seizures but no chronic epilepsy. Available evidence suggests that impaired SYN1 function is associated with hyperexcitability of the temporoinsular network and disturbance of high mental functions such as language and social interaction. The presence of reflex bathing seizures, a most peculiar clinical feature, could be helpful in identifying other patients with this syndrome. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  3. Characterization of overlap syndrome between primary biliary cirrhosis and autoimmune hepatitis according to antimitochondrial antibodies status.

    Science.gov (United States)

    Alric, Laurent; Thebault, Sophie; Selves, Janik; Peron, Jean-Marie; Mejdoubi, Sanae; Fortenfant, Françoise; Vinel, Jean-Pierre

    2007-01-01

    Codification of variant forms between Primary Biliary Cirrhosis (PBC) and Autoimmune Hepatitis (AIH) has not been definitively standardized. The aim of this study was to compare among 102 consecutive patients, 2 subsets of overlap syndrome (OS, N=21) with and without antimitochondrial antibody (AMA) to two groups of patients with typical PBC (N=43) or AIH (N=38). OS was defined by the presence in the same patient of at least 2 of 3 accepted criteria of PBC and AIH. Twelve patients with OS were AMA negative and 9 were AMA positive. A lower level of alanine transaminase (139+/-48 vs 269+/-154 IU/L, Pantibodies. OS without AMA differed from those with AMA in that they had more severe bile duct damage including destructive cholangitis (P<0.05), ductopenia (P<0.05), ductular hyperplasia (P<0.05) and a higher METAVIR fibrosis score (2.5+/-0.3 vs 1.3+/-0.3, P<0.05). The response to therapy was not different between PBC, AIH and OS. According to the presence of AMA, 2 homogeneous subgroups of patients with overlap syndrome between PBC and AIH may be identified. AMA status affects clinical presentation and liver disease severity of OS.

  4. Characterization of a Cardiorenal-like Syndrome in Aged Chimpanzees (Pan troglodytes).

    Science.gov (United States)

    Chilton, J; Wilcox, A; Lammey, M; Meyer, D

    2016-03-01

    Cardiorenal syndrome involves disease and dysfunction of the heart that leads to progressive renal dysfunction. This study investigated the relationship between cardiac and renal disease in 91 aged chimpanzees at the Alamogordo Primate Facility by evaluation of the medical histories, metabolic parameters, functional measurements of the cardiovascular system, clinical pathology, and histopathology focused on the heart and kidney. Cardiac fibrosis was the most frequent microscopic finding in 82 of 91 animals (90%), followed by glomerulosclerosis with tubulointerstitial fibrosis in 63 of 91 (69%). Cardiac fibrosis with attendant glomerulosclerosis and tubulointerstitial fibrosis was observed in 58 of 91 animals (63%); there was a statistically significant association between the 2 conditions. As the severity of cardiac fibrosis increased, there was corresponding increase in severity of glomerulosclerosis with tubulointerstitial fibrosis. Altered metabolic, cardiovascular, and clinical pathology parameters indicative of heart and kidney failure were commonly associated with the moderate to severe microscopic changes, and concurrent heart and kidney failure were considered the cause of death. The constellation of findings in the chimpanzees were similar to cardiorenal syndrome in humans. © The Author(s) 2016.

  5. Characterization of seizure-like events recorded in vivo in a mouse model of Rett syndrome.

    Science.gov (United States)

    Colic, Sinisa; Wither, Robert G; Zhang, Liang; Eubanks, James H; Bardakjian, Berj L

    2013-10-01

    Rett syndrome is a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Spontaneous recurrent discharge episodes are displayed in Rett-related seizures as in other types of epilepsies. The aim of this paper is to investigate the seizure-like event (SLE) and inter-SLE states in a female MeCP2-deficient mouse model of Rett syndrome and compare them to those found in other spontaneous recurrent epilepsy models. The study was performed on a small population of female MeCP2-deficient mice using telemetric local field potential (LFP) recordings over a 24 h period. Durations of SLEs and inter-SLEs were extracted using a rule-based automated SLE detection system for both daytime and nighttime, as well as high and low power levels of the delta frequency range (0.5-4 Hz) of the recorded LFPs. The results suggest SLE occurrences are not influenced by circadian rhythms, but had a significantly greater association with delta power. Investigating inter-SLE and SLE states by fitting duration histograms to the gamma distribution showed that SLE initiation and termination were associated with random and deterministic mechanisms, respectively. These findings when compared to reported studies on epilepsy suggest that Rett-related seizures share many similarities with absence epilepsy. Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

  6. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Christian, S.L.; Huang, B.; Ledbetter, D.H. [National Institutes of Health, Bethesda, MD (United States)] [and others

    1995-07-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation syndromes caused by paternal and maternal deficiencies, respectively, in chromosome 15q11{minus}q13. Approximately 70% of these patients have a large deletion of {approximately}4 Mb extending from D15S9 (ML34) through D15S12 (IR10A). To further characterize the deletion breakpoints proximal to D15S9, three new polymorphic microsatellite markers were developed that showed observed heterozygosities of 60%-87%. D15S541 and D15S542 were isolated for YAC A124A3 containing the D15S18 (IR39) locus. D15S543 was isolated from a cosmid cloned from the proximal right end of YAC 254B5 containing the D15S9 (ML34) locus. Gene-centromere mapping of these markers, using a panel of ovarian teratomas of known meiotic origin, extended the genetic map of chromosome 15 by 2-3 cM toward the centromere. Analysis of the more proximal S541/S542 markers on 53 Prader-Willi and 33 Angelman deletion patients indicated two classes of patients: 44% (35/80) of the informative patients were deleted for these markers (class I), while 56% (45/80) were not deleted (class II), with no difference between PWS and AS. In contrast, D15S543 was deleted in all informative patients (13/48) or showed the presence of a single allele (in 35/48 patients), suggesting that this marker is deleted in the majority of PWS and AS cases. These results confirm the presence of two common proximal deletion breakpoint regions in both Prader-Willi and Angelman syndromes and are consistent with the same deletion mechanism being responsible for paternal and maternal deletions. One breakpoint region lies between D15S541/S542 and D15S543, with an additional breakpoint region being proximal to D15S541/S542. 46 refs., 2 figs., 3 tabs.

  7. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome

    DEFF Research Database (Denmark)

    Callø, Kirstine; Refaat, Marwan M.; Grubb, Søren

    2013-01-01

    Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brug...

  8. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai

    2015-03-01

    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  9. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  10. Fahr's Syndrome

    Science.gov (United States)

    ... from the National Library of Medicine’s MedlinePlus Genetic Brain Disorders Show More Show Less ... Definition Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of ...

  11. 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...

  12. Characterization of Sleep Architecture in Down Syndrome Patients Pre and Post Airway Surgery.

    Science.gov (United States)

    Mims, Mark; Thottam, Prasad John; Kitsko, Dennis; Shaffer, Amber; Choi, Sukgi

    2017-01-17

    To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively. The study was a retrospective review. Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children's hospital for obstructive sleep apnea (OSA) were investigated. Postoperative changes in respiratory parameters and sleep architecture (SA) were assessed and compared to general pediatric normative data using paired t-tests and Wilcoxon signed-rank test. Twenty-two out of 45 of the participants were male. Thirty participants underwent tonsillectomy and adenoidectomy, four adenoidectomy, 10 tonsillectomy, and one base of tongue reduction. The patients were divided into two groups based on age (6 years) and compared to previously published age matched normative SA data. DS children in both age groups spent significantly less time than controls in rapid eye movement (REM) and N1 (phealthy controls (parchitecture stages.

  13. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.

    Science.gov (United States)

    Valayannopoulos, Vassili; Bakouh, Naziha; Mazzuca, Michel; Nonnenmacher, Luc; Hubert, Laurence; Makaci, Fatna-Léa; Chabli, Allel; Salomons, Gajja S; Mellot-Draznieks, Caroline; Brulé, Emilie; de Lonlay, Pascale; Toulhoat, Hervé; Munnich, Arnold; Planelles, Gabrielle; de Keyzer, Yves

    2013-01-01

    Intellectual disability coupled with epilepsy are clinical hallmarks of the creatine (Cr) transporter deficiency syndrome resulting from mutations in the SLC6A8 gene. So far characterization of pathogenic mutations of SLC6A8 has been limited to Cr uptake. The aim of our study was to characterize the electrogenic and pharmacological properties of non truncating SLC6A8 mutations identified in patients presenting variable clinical severity. Electrophysiological and pharmacological properties of four mutants (including two novel ones) were studied in X. laevis oocyte expression system. Creatine uptake was assessed with [(14)C]-Cr in X. laevis and patients' fibroblasts. Subcellular localization was determined by immunofluorescence and western blot. All mutants were properly targeted to the plasma membrane in both systems. Mutations led to the complete loss of both electrogenic and transport activities in X. laevis and Cr uptake in patients' fibroblasts. Among the Cr analogs tested, guanidinopropionate induced an electrogenic activity with the normal SLC6A8 transporter similar to creatine whereas a phosphocreatine derivative, PCr-Mg-CPLX, resulted in partial activity. SLC6A8 mutants displayed no electrogenic activity with all Cr analogs tested in X. laevis oocytes. Although the mutations altered various domains of SLC6A8 Cr uptake and electrogenic properties were completely inhibited and could not be dissociated. Besides the metabolic functions of Cr, the loss of SLC6A8 electrogenic activity, demonstrated here for the first time, may also play a role in the altered brain functions of the patients.

  14. Genomic characterization of a persistent rubella virus from a case of Fuch' uveitis syndrome in a 73 year old man.

    Science.gov (United States)

    Abernathy, Emily; Peairs, Randall R; Chen, Min-hsin; Icenogle, Joseph; Namdari, Hassan

    2015-08-01

    Many cases of Fuchs' uveitis have been associated with persistent rubella virus infection. A 73-year-old male patient with typical Fuchs' Uveitis Syndrome (FUS) first experienced heterochromia of the left eye at the age fourteen, when rubella was endemic in the US. The purposes of this report are to describe the patient's FUS clinical presentations and to characterize the virus detected in the vitreous fluid. The patient underwent a therapeutic pars plana vitrectomy in May 2013. A real-time RT-PCR assay for rubella virus was performed on the vitreous fluid by Focus Diagnostics. Additional real-time RT-PCR assays for rubella virus detection and RT-PCR assays for generation of templates for sequencing were performed at the Centers for Disease Control and Prevention (CDC). The results from Focus Diagnostics were positive for rubella virus RNA. Real-time RT-PCR assays at CDC were also positive for rubella virus. A rubella virus sequence of 739 nucleotides was determined and phylogenetic analysis showed that the virus was the sole member of a new phylogenetic group when compared to reference virus sequences. While FUS remains a clinical diagnosis, findings in this case support the association between rubella virus and the disease. Phylogenetic analysis provided evidence that this rubella virus was likely a previously undetected genotype which is no longer circulating. Since the patient had rubella prior to 1955, this sequence is from the earliest rubella virus yet characterized. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. Characterization of the Development of Acute-on-Chronic Exertional Compartment Syndrome A Case Report of Symmetric Compartment Syndromes and Review of the Literature.

    Science.gov (United States)

    Schwartz, Andrew; Poole, Claudette; Schleien, Charles

    2017-04-01

    Acute-on-chronic exertional compartment syndrome is a rare and severe progression of the likely common and more benign chronic exertional compartment syndrome. This is a report of one 17-year-old male on a pediatric inpatient service with bilateral anterior leg pain of unknown origin. Because of the nonspecific nature of pain, a high level of suspicion is required for timely diagnosis to avoid compartment ischemia and irreversible soft tissue and nerve damage. While high-energy orthopaedic trauma, orthopaedic surgery, or closed reduction and casting are common preceding events for compartment syndrome, this patient presented with acute-on-chronic exertional compartment syndrome. A dearth of literature of this condition hampered its morbiditysparing diagnosis. While there is a spectrum of clinical findings for the acute decompensation of chronic exertional compartment syndrome, like any compartment syndrome, pain disproportionate to physical exam is the most sensitive sign. Understanding the exertional compartment syndrome spectrum is tantamount to avoid the devastating complications of a missed diagnosis of acute compartment syndrome.

  16. Pathology and Molecular Characterization of Escherichia Coli Associated With the Avian Salpingitis-Peritonitis Disease Syndrome

    DEFF Research Database (Denmark)

    Olsen, Rikke Heidemann; Bisgaard, Magne; Christensen, Jens Peter

    2016-01-01

    Outbreaks of salpingitis and peritonitis cause major economic losses due to high mortality, reduced egg-production, and culling. The aim of the present study was to characterize, in detail, lesions associated with increased mortality in layers due to avianpathogenic Escherichia coli (APEC) and to...

  17. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: clinical and molecular characterization of a new contiguous gene syndrome

    Directory of Open Access Journals (Sweden)

    Josiane Souza

    2011-01-01

    Full Text Available The Peutz-Jeghers syndrome (PJS is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning difficulties, dysmorphic features and cardiac malformation, bearing a de novo 1.1 Mb deletion at 19p13.3. This deletion encompasses at least 47 genes, including STK11. This is the first report on 19p13.3 deletion associated with a PJS phenotype, as well as other atypical manifestations, thereby implying a new contiguous gene syndrome.

  18. Genetics Home Reference: Baller-Gerold syndrome

    Science.gov (United States)

    ... The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome . These syndromes are also characterized ...

  19. Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

    Science.gov (United States)

    Tortora, Domenico; Severino, Mariasavina; Accogli, Andrea; Martinetti, Carola; Vercellino, Nadia; Capra, Valeria; Rossi, Andrea; Pavanello, Marco

    2017-12-01

    PHACE syndrome (Posterior fossa malformations, large cervicofacial infantile Hemangiomas, Arterial anomalies, aortic coarctation and Cardiac abnormalities, and Eye abnormalities) is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and recently have been categorized based on the risk of acute ischemic stroke, increasing attention to the potentially devastating consequences of cerebrovascular complications in this syndrome. In contrast, the natural history of arteriopathy in PHACE syndrome remains poorly understood. At the moment, there are no established surgical guidelines for high-risk vasculopathies, including quasi-moyamoya, in this syndrome. We described the clinicoradiologic features of a small series of 6 patients with PHACE syndrome and quasi-moyamoya (5 female, age range 4 months to 12 years), focusing on the clinical course and surgical outcome of 3 children who were treated with encephaloduroarteriosynangiosis and encephalomyosynangiosis. In addition, we reviewed the radiologic, clinical, and surgical aspects of moyamoya vasculopathy in PHACE syndrome, providing information on 15 additional published cases. Although the natural history of arteriopathy in PHACE syndrome is poorly understood, patients with high-risk vasculopathies, such as quasi-moyamoya disease, may benefit of revascularization by using encephaloduroarteriosynangiosis and encephalomyosynangiosis. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Toward a deeper characterization of the social phenotype of Williams syndrome: the association between personality and social drive

    Science.gov (United States)

    Ng, Rowena; Järvinen, Anna; Bellugi, Ursula

    2014-01-01

    Previous research has robustly established a Williams syndrome (WS) specific personality profile, predominantly characterized a gregarious, people-oriented, and tense predisposition. Extending this work, the aims of the current, cross-sectional study were two-fold: (1) to elucidate the stability of personality characteristics in individuals with WS and typically developing (TD) comparisons across development, and (2) to explore the personality attributes that may be related to the respective profiles of social functioning characterizing the two groups, which is currently poorly understood. The sample comprised of participants with WS and TD matched on chronological age. The test battery included the Multidimensional Personality Questionnaire (MPQ) and the Salk Institute Sociability Questionnaire (SISQ), an index of real-life social behavior. The main results showed that compared to the TD individuals, the WS group were consistently rated higher in Social Closeness, and this trait remained stable across development. Interpersonal behaviors were best predicted by Social Closeness in WS and by Social Potency in TD. Regression analysis highlighted that while a central motive underlying the increased drive toward social interaction in individuals with WS pertains to a desire to form affectionate relationships, TD individuals by contrast are motivated by a desire to exert social influence over others (leadership, social-dominance) and Well-Being (positive emotional disposition). In conclusion, these findings provide novel insight into social motivational factors underpinning the WS social behavior in real life, and contribute toward a deeper characterization of the WS affiliative drive. We suggest potential areas for behavioral intervention targeting improved social adjustment in individuals with WS. PMID:24794322

  1. Toward a deeper characterization of the social phenotype of Williams syndrome: The association between personality and social drive.

    Science.gov (United States)

    Ng, Rowena; Järvinen, Anna; Bellugi, Ursula

    2014-08-01

    Previous research has robustly established a Williams syndrome (WS) specific personality profile, predominantly characterized a gregarious, people-oriented, and tense predisposition. Extending this work, the aims of the current, cross-sectional study were two-fold: (1) to elucidate the stability of personality characteristics in individuals with WS and typically developing (TD) comparisons across development, and (2) to explore the personality attributes that may be related to the respective profiles of social functioning characterizing the two groups, which is currently poorly understood. The sample comprised of participants with WS and TD matched on chronological age. The test battery included the Multidimensional Personality Questionnaire (MPQ) and the Salk Institute Sociability Questionnaire (SISQ), an index of real-life social behavior. The main results showed that compared to the TD individuals, the WS group were consistently rated higher in Social Closeness, and this trait remained stable across development. Interpersonal behaviors were best predicted by Social Closeness in WS and by Social Potency in TD. Regression analysis highlighted that while a central motive underlying the increased drive toward social interaction in individuals with WS pertains to a desire to form affectionate relationships, TD individuals by contrast are motivated by a desire to exert social influence over others (leadership, social-dominance) and Well-Being (positive emotional disposition). In conclusion, these findings provide novel insight into social motivational factors underpinning the WS social behavior in real life, and contribute toward a deeper characterization of the WS affiliative drive. We suggest potential areas for behavioral intervention targeting improved social adjustment in individuals with WS. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Early infectious acute respiratory distress syndrome is characterized by activation and proliferation of alveolar T-cells.

    Science.gov (United States)

    Risso, K; Kumar, G; Ticchioni, M; Sanfiorenzo, C; Dellamonica, J; Guillouet-de Salvador, F; Bernardin, G; Marquette, C-H; Roger, P-M

    2015-06-01

    Acute respiratory distress syndrome (ARDS) in humans is characterized by the infiltration of polymorphonuclears in the alveolar spaces. However, the role of T-cells in ARDS is unknown. Our aim was to characterize the T-cell phenotype in bronchoalveolar lavage (BAL) during the early phase of acute lung infection(ALI)/ARDS-infected patients in comparison to a control group (CG). BAL lymphocyte phenotypes of two ALI, 16 ARDS, and eight CG were examined by flow cytometry. ALI/ARDS showed a significant increase in CD4 and CD8 T-cell activation as compared to CG. Moreover, a significant level of proliferation was observed using the Ki67 marker in ARDS patients as compared to controls (median): 37 versus 6 % for CD4 T-cells (p = 0.022) and 34 versus 2 % for CD8 T-cells (p = 0.009). In contrast, the percentage of T-regulatory cells and apoptotic T-cells were similar in both groups. Among costimulatory molecules, we observed an overexpression of CTLA-4/CD152 on CD4 T-cells in ALI/ARDS as compared to CG: 30 versus 7 %, respectively (p = 0.063). In further characterizing T-cell subsets expressing high levels of CD152, we found the presence of IL-17 secreting CD4 T-cells in ALI/ARDS. In humans, ALI/ARDS due to infection is associated with a high level of T-cell activation and proliferation, along with the presence of Th17 cells, which are known to attract polymorphonuclears.

  3. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Cockayne syndrome Cockayne syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cockayne syndrome is a rare disorder characterized by an abnormally ...

  4. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... Liddle syndrome Liddle syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension ...

  5. Characterization of the serological biomarkers associated with Sjögren’s syndrome in patients with recalcitrant dry eye disease

    Directory of Open Access Journals (Sweden)

    Matossian C

    2016-07-01

    Full Text Available Cynthia Matossian,1,2 Joan Micucci1 1Matossian Eye Associates, Doylestown, PA, USA; 2Department of Ophthalmology, Temple University School of Medicine, Philadelphia, PA, USA Purpose: The purpose was to characterize the biomarkers associated with Sjögren’s syndrome (SS identified in the serological samples of patients with recalcitrant dry eye disease; additionally, the modalities utilized in the treatment of dry eye disease were evaluated for subsets of patients with and without SS. Patients and methods: Data for this retrospective, single-center, pilot study were based on a chart review of 48 sequential patients with recalcitrant dry eye who were evaluated for SS via serological analysis. Data presented include the presence of the autoantibodies identified through the serological biomarker analysis and identification of the concurrent dry eye treatment modalities. Results: Eleven out of 48 patients (23% tested positive for biomarkers associated with SS. Autoantibodies for salivary protein-1, parotid secretory protein 1, and carbonic anhydrase VI, markers associated with the early development of SS, were detected in 91% (ten out of eleven of the patients who tested positive for SS, whereas 27% (three out of eleven of patients tested positive for the traditional SS markers, SS-A and/or SS-B. Common treatment modalities utilized in SS patients included omega-3 supplements (82%, topical cyclosporine (74%, and artificial tear solutions (64%, as compared to omega-3 supplements (80%, hot-mask therapy (77%, and artificial tear solutions (77%, in SS-negative patients. Conclusion: Evaluation for salivary protein-1, parotid secretory protein 1, and carbonic anhydrase VI biomarkers allows for identification of a subset of patients with biomarkers associated with SS that may not be identified through the traditional assessments (SS-A/SS-B. Earlier recognition of SS biomarkers allows for a confirmatory diagnosis and appropriate management of this

  6. Characterization of a New Disease Syndrome Associated with Porcine Circovirus Type 2 in Previously Vaccinated Herds▿†

    Science.gov (United States)

    Cino-Ozuna, Ada G.; Henry, Steven; Hesse, Richard; Nietfeld, Jerome C.; Bai, Jianfa; Scott, H. Morgan; Rowland, Raymond R. R.

    2011-01-01

    Porcine circovirus-associated disease (PCVAD) encompasses a group of wasting syndromes linked to porcine circovirus type 2 (PCV2). This paper describes a new PCV2 disease syndrome, called acute pulmonary edema (APE), which, unlike other PCVAD syndromes, has a peracute onset and is associated with herds vaccinated for PCV2. PMID:21346043

  7. Characterization of Angiogenesis and Lymphangiogenesis in Human Minor Salivary Glands with Sjögren's Syndrome.

    Science.gov (United States)

    McCall, Andrew D; Baker, Olga J

    2015-05-01

    Angiogenesis has been proposed to play a role in the inflammation observed in Sjögren's Syndrome (SS). However, no studies have validated the degree of angiogenesis in salivary glands with SS. Therefore, the goal of this study was to determine the presence and localization of angiogenesis and lymphangiogenesis in salivary glands with SS. We used frozen tissue sections from human minor salivary glands (hMSG) with and without SS in our analyses. To investigate signs of angiogenesis, hMSG tissue lysates were used to detect levels of the pro-angiogenic protein vascular endothelial growth factor (VEGF) by western blot analyses. Additionally, we labeled blood vessels using antibodies specific to platelet endothelial cell adhesion molecule-1 (PECAM-1) and von Willebrand Factor (vWF) to determine blood vessel organization and volume fraction using fluorescence microscopy. Lymphatic vessel organization and volume fraction were determined using antibodies specific to lymphatic vessel endothelial hyaluronan receptor (LYVE-1). Our results suggest that expression levels of VEGF are decreased in hMSG with SS as compared with controls. Interestingly, there were no significant differences in blood or lymphatic vessel organization or volume fraction between hMSG with and without SS, suggesting that angiogenesis and lymphangiogenesis have little impact on the progression of SS. © The Author(s) 2015.

  8. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

    Science.gov (United States)

    Gleeson, J G; Minnerath, S R; Fox, J W; Allen, K M; Luo, R F; Hong, S E; Berg, M J; Kuzniecky, R; Reitnauer, P J; Borgatti, R; Mira, A P; Guerrini, R; Holmes, G L; Rooney, C M; Berkovic, S; Scheffer, I; Cooper, E C; Ricci, S; Cusmai, R; Crawford, T O; Leroy, R; Andermann, E; Wheless, J W; Dobyns, W B; Walsh, C A

    1999-02-01

    Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterotopia) and affected males show X-linked lissencephaly. Mutations in doublecortin also cause sporadic DC in females. To determine the incidence of doublecortin mutations in DC, we investigated a cohort of eight pedigrees and 47 sporadic patients with DC for mutations in the doublecortin open reading frame as assessed by single-stranded conformational polymorphism analysis. Mutations were identified in each of the eight DC pedigrees (100%), and in 18 of the 47 sporadic DC patients (38%). Identified mutations were of two types, protein truncation mutations and single amino acid substitution mutations. However, pedigrees with DC displayed almost exclusively single amino acid substitution mutations, suggesting that patients with these mutations may have less of a reproductive disadvantage versus those patients with protein truncation mutations. Single amino acid substitution mutations were tightly clustered in two regions of the open reading frame, suggesting that these two regions are critical for the function of the Doublecortin protein.

  9. A model to characterize psychopathological features in adults with Prader-Willi syndrome.

    Science.gov (United States)

    Thuilleaux, Denise; Laurier, Virginie; Copet, Pierre; Tricot, Julie; Demeer, Geneviève; Mourre, Fabien; Tauber, Maithé; Jauregi, Joseba

    2018-01-01

    High prevalence of behavioral and psychiatric disorders in adults with Prader-Willi Syndrome (PWS) has been reported in last few years. However, data are confusing and often contradictory. In this article, we propose a model to achieve a better understanding of the psychopathological features in adults with PWS. The study is based on clinical observations of 150 adult inpatients, males and females. Non-parametric statistics were performed to analyse the association of psychopathological profiles with genotype, gender and age. We propose a model of psychiatric disorders in adults with PWS based on cognitive, emotional and behavioural issues. This model defines four psychopathological profiles: Basic, Impulsive, Compulsive, and Psychotic. The Basic profile is defined by traits and symptoms that are present in varying degrees in all persons with PWS. In our cohort, this Basic profile corresponds to 55% of the patients. The rest show, in addition to these characteristics, salient features of impulsivity (Impulsive profile, 19%), compulsivity (Compulsive profile, 7%), or psychosis (Psychotic profile, 19%). The analysis of factors associated with different profiles reveals an effect of genotype on Basic and Psychotic profiles (Deletion: 70% Basic, 9% Psychotic; Non-deletion: 23% Basic, 43% Psychotic) and a positive correlation between male sex and impulsivity, unmediated by sex hormone treatment. This is a clinical study, based on observation proposing an original model to understand the psychiatric and behavioural disorders in adults with PWS. Further studies are needed in order to test the validity of this model. © 2017 Wiley Periodicals, Inc.

  10. Transmission, characterization, and serology of a luteovirus associated with yellow leaf syndrome of sugarcane.

    Science.gov (United States)

    Scagliusi, S M; Lockhart, B E

    2000-02-01

    ABSTRACT A previously uncharacterized luteovirus was associated with one form of yellow leaf syndrome (YLS), a widespread disease of sugarcane (Saccharum sp.). The virus was named Sugarcane yellow leaf luteovirus (ScYLV), and was identified in major sugarcane-producing areas of the world. Typical disease symptoms were reproduced when ScYLV was transmitted by Melanaphis sacchari or Rhopalosiphum maidis from infected to healthy sugarcane, suggesting that this virus may be the causal agent of one form of YLS. The only known hosts of ScYLV are Saccharum and Erianthus spp. Virions of ScYLV were 24 to 29 nm in diameter in sodium phosphotungstate at pH 5.0, had a buoyant density of 1.30 g/cm(3) in Cs(2)SO(4), and contained a 5.8-kb genomic ssRNA. The capsid protein had an estimated relative molecular mass of 27 kDa and was not glycosylated. A polyclonal rabbit antiserum raised against ScYLV did not detect any of eight other luteoviruses by enzyme-linked immunosorbent assay or immunosorbent electron microscopy, but in immunoblot assays, antibodies to ScYLV detected the RPV serotype of Barley yellow dwarf luteovirus. It is concluded that ScYLV is a previously undescribed luteovirus that is biologically and serologically distinct from other members of the group and may be the causal agent of one form of YLS of sugarcane.

  11. Integration of gene expression, clinical, and epidemiologic data to characterize Chronic Fatigue Syndrome

    Directory of Open Access Journals (Sweden)

    Vernon Suzanne D

    2003-12-01

    Full Text Available Abstract Background Chronic fatigue syndrome (CFS has no diagnostic clinical signs or diagnostic laboratory abnormalities and it is unclear if it represents a single illness. The CFS research case definition recommends stratifying subjects by co-morbid conditions, fatigue level and duration, or functional impairment. But to date, this analysis approach has not yielded any further insight into CFS pathogenesis. This study used the integration of peripheral blood gene expression results with epidemiologic and clinical data to determine whether CFS is a single or heterogeneous illness. Results CFS subjects were grouped by several clinical and epidemiological variables thought to be important in defining the illness. Statistical tests and cluster analysis were used to distinguish CFS subjects and identify differentially expressed genes. These genes were identified only when CFS subjects were grouped according to illness onset and the majority of genes were involved in pathways of purine and pyrimidine metabolism, glycolysis, oxidative phosphorylation, and glucose metabolism. Conclusion These results provide a physiologic basis that suggests CFS is a heterogeneous illness. The differentially expressed genes imply fundamental metabolic perturbations that will be further investigated and illustrates the power of microarray technology for furthering our understanding CFS.

  12. Characterization of alterations in carbohydrate metabolism in children with Prader-Willi syndrome.

    Science.gov (United States)

    Krochik, Andrea Gabriela; Ozuna, Blanca; Torrado, María; Chertkoff, Lilien; Mazza, Carmen

    2006-07-01

    To study carbohydrate metabolism and insulin sensitivity and secretion in children and adolescents with Prader-Willi syndrome (PWS) compared with multifactorial obesity (MO) controls. Seventy-five patients with PWS and 395 controls with MO were studied by oral glucose tolerance test. Insulin resistance (IR) and beta-cell function were assessed by homeostasis model assessment (HOMA), insulin glucose index, fasting insulin and insulin sensitivity index. The incidence of diabetes mellitus was 0% in PWS and 1.5% in MO, while carbohydrate intolerance was 9.3% in the former group and 7.6% in the latter (NS); basal insulin level (12 +/- 8.2 vs 22.3 +/- 25 mU/ml) and HOMA-IR (2.47 +/- 1.6 vs 4.18 +/- 5.05) were lower in PWS (p = 0.004 and 0.04, respectively), whereas HOMA beta-cell index was lower in PWS than in MO (59 +/- 42 vs 102 +/- 119, p = 0.03). ISI Composite was higher in PWS compared to MO (6 +/- 5.7 vs 4.18 +/- 5.05, p = 0.04). Patients with PWS presented lower insulin resistance and a dissociation between beta-cell secretion and the degree of obesity.

  13. Molecular Characterization and Subtyping of Blastocystis Species in Irritable Bowel Syndrome Patients from North India

    Science.gov (United States)

    Das, Rojaleen; Khalil, Shehla; Mirdha, B. R.; Makharia, Govind K.; Dattagupta, Siddharta; Chaudhry, Rama

    2016-01-01

    Blastocystis species has been extensively studied in recent few years to establish its pathogenecity. Present study was designed to identify and examine the association of Blastocystis sp. and its subtypes with Irritable Bowel Syndrome (IBS).Blastocystis sp. detected using wet-mount microscopy, trichrome staining, in-vitro culture and Polymerase Chain Reaction (PCR) assay in a cohort of IBS patients (n = 150) and healthy controls (n = 100). Isolates of Blastocystis sp.were subtyped using Sequence Tagged Site and representative samples were sequenced at SSUrRNA locus.A total of sixty five isolates of Blastocystis sp. were identified [IBS (n = 50); Controls (n = 15)] of which 91% belonged to ST3 and 9% belonged to ST1. No other subtypes could be identified. Statistically significant association was observed between Blastocystis sp. and IBS patients; however no particular subtype could be ascertained to any particular clinical type of IBS.The frequency of occurrence of Blastocystis sp. was more in IBS patients as compared to the controls and ST3 being the most prevalent subtype. The genetic polymorphism of SSU-rRNA gene amongst the different Blastocystis sp.isolates found in this study reinforces the fact that these organisms are genetically highly divergent. PMID:26784888

  14. Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.

    Directory of Open Access Journals (Sweden)

    Christine M Armour

    Full Text Available Mutations in the thyroid hormone (TH transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS, characterized by severe psychomotor retardation and altered TH serum levels. Here we report a novel MCT8 mutation identified in 4 generations of one family, and its functional characterization.Proband and family members were screened for 60 genes involved in X-linked cognitive impairment and the MCT8 mutation was confirmed. Functional consequences of MCT8 mutations were studied by analysis of [125I]TH transport in fibroblasts and transiently transfected JEG3 and COS1 cells, and by subcellular localization of the transporter.The proband and a male cousin demonstrated clinical findings characteristic of AHDS. Serum analysis showed high T3, low rT3, and normal T4 and TSH levels in the proband. A MCT8 mutation (c.869C>T; p.S290F was identified in the proband, his cousin, and several female carriers. Functional analysis of the S290F mutant showed decreased TH transport, metabolism and protein expression in the three cell types, whereas the S290A mutation had no effect. Interestingly, both uptake and efflux of T3 and T4 was impaired in fibroblasts of the proband, compared to his healthy brother. However, no effect of the S290F mutation was observed on TH efflux from COS1 and JEG3 cells. Immunocytochemistry showed plasma membrane localization of wild-type MCT8 and the S290A and S290F mutants in JEG3 cells.We describe a novel MCT8 mutation (S290F in 4 generations of a family with Allan-Herndon-Dudley Syndrome. Functional analysis demonstrates loss-of-function of the MCT8 transporter. Furthermore, our results indicate that the function of the S290F mutant is dependent on cell context. Comparison of the S290F and S290A mutants indicates that it is not the loss of Ser but its substitution with Phe, which leads to S290F dysfunction.

  15. Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.

    Science.gov (United States)

    Armour, Christine M; Kersseboom, Simone; Yoon, Grace; Visser, Theo J

    2015-01-01

    Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and altered TH serum levels. Here we report a novel MCT8 mutation identified in 4 generations of one family, and its functional characterization. Proband and family members were screened for 60 genes involved in X-linked cognitive impairment and the MCT8 mutation was confirmed. Functional consequences of MCT8 mutations were studied by analysis of [125I]TH transport in fibroblasts and transiently transfected JEG3 and COS1 cells, and by subcellular localization of the transporter. The proband and a male cousin demonstrated clinical findings characteristic of AHDS. Serum analysis showed high T3, low rT3, and normal T4 and TSH levels in the proband. A MCT8 mutation (c.869C>T; p.S290F) was identified in the proband, his cousin, and several female carriers. Functional analysis of the S290F mutant showed decreased TH transport, metabolism and protein expression in the three cell types, whereas the S290A mutation had no effect. Interestingly, both uptake and efflux of T3 and T4 was impaired in fibroblasts of the proband, compared to his healthy brother. However, no effect of the S290F mutation was observed on TH efflux from COS1 and JEG3 cells. Immunocytochemistry showed plasma membrane localization of wild-type MCT8 and the S290A and S290F mutants in JEG3 cells. We describe a novel MCT8 mutation (S290F) in 4 generations of a family with Allan-Herndon-Dudley Syndrome. Functional analysis demonstrates loss-of-function of the MCT8 transporter. Furthermore, our results indicate that the function of the S290F mutant is dependent on cell context. Comparison of the S290F and S290A mutants indicates that it is not the loss of Ser but its substitution with Phe, which leads to S290F dysfunction.

  16. Genomic characterization of the Guillain-Barre syndrome-associated Campylobacter jejuni ICDCCJ07001 Isolate.

    Science.gov (United States)

    Zhang, Maojun; He, Lihua; Li, Qun; Sun, Honghe; Gu, Yixin; You, Yuanhai; Meng, Fanliang; Zhang, Jianzhong

    2010-11-29

    Campylobacter jejuni ICDCCJ07001 (HS:41, ST2993) was isolated from a Guillain-Barré syndrome (GBS) patient during a 36-case GBS outbreak triggered by C. jejuni infections in north China in 2007. Sequence analysis revealed that the ICDCCJ07001 genome consisted of 1,664,840 base pairs (bp) and one tetracycline resistance plasmid of 44,084 bp. The GC content was 59.29% and 1,579 and 37 CDSs were identified on the chromosome and plasmid, respectively. The ICDCCJ07001 genome was compared to C. jejuni subsp. jejuni strains 81-176, 81116, NCTC11168, RM1221 and C. jejuni subsp. doylei 269.97. The length and organization of ICDCCJ07001 was similar to that of NCTC11168, 81-176 and 81-116 except that CMLP1 had a reverse orientation in strain ICDCCJ07001. Comparative genomic analyses were also carried out between GBS-associated C. jejuni strains. Thirteen common genes were present in four GBS-associated strains and 9 genes mapped to the LOS cluster and the ICDCCJ07001_pTet (44 kb) plasmid was mosaic in structure. Thirty-seven predicted CDS in ICDCCJ07001_pTet were homologous to genes present in three virulence-associated plasmids in Campylobacter: 81-176_pTet, pCC31 and 81-176_pVir. Comparative analysis of virulence loci and virulence-associated genes indicated that the LOS biosynthesis loci of ICDCCJ07001 belonged to type A, previously reported to be associated with cases of GBS. The polysaccharide capsular biosynthesis (CPS) loci and the flagella modification (FM) loci of ICDCCJ07001 were similar to corresponding sequences of strain 260.94 of similar serotype as strain ICDCCJ07001. Other virulence-associated genes including cadF, peb1, jlpA, cdt and ciaB were conserved between the C. jejuni strains examined.

  17. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

    Science.gov (United States)

    Lu, C-W; Lin, J-H; Rajawat, Y S; Jerng, H; Rami, T G; Sanchez, X; DeFreitas, G; Carabello, B; DeMayo, F; Kearney, D L; Miller, G; Li, H; Pfaffinger, P J; Bowles, N E; Khoury, D S; Towbin, J A

    2006-08-01

    Andersen-Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. This study sought to analyse KCNJ2 in patients with familial ATS and to determine the functional characteristics of the mutated gene. We screened a family with inherited ATS for the mutation in KCNJ2, using direct DNA sequencing. A missense mutation (T75R) of Kir2.1, located in the highly conserved cytoplasmic N-terminal domain, was identified in three affected members of this family. Using the Xenopus oocyte expression system and whole cell voltage clamp analyses, we found that the T75R mutant was non-functional and possessed a strong dominant negative effect when co-expressed with the same amount of wild type Kir2.1. Transgenic (Tg) mice expressing the mutated form of Kir2.1 in the heart had prolonged QTc intervals compared with mice expressing the wild type protein. Ventricular tachyarrhythmias were observed in 5 of 14 T75R-Tg mice compared with 1 of 7 Wt-Tg and none of 6 non-transgenic littermates. In three of five T75R-Tg mice with ventricular tachycardia, their ECG disclosed bidirectional tachycardia as in our proband. The in vitro studies revealed that the T75R mutant of Kir2.1 had a strong dominant negative effect in the Xenopus oocyte expression system. It still preserved the ability to co-assemble and traffic to the cell membrane in mammalian cells. For in vivo studies, the T75R-Tg mice had bidirectional ventricular tachycardia after induction and longer QT intervals.

  18. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen‐Tawil syndrome

    Science.gov (United States)

    Lu, C‐W; Lin, J‐H; Rajawat, Y S; Jerng, H; Rami, T G; Sanchez, X; DeFreitas, G; Carabello, B; DeMayo, F; Kearney, D L; Miller, G; Li, H; Pfaffinger, P J; Bowles, N E; Khoury, D S; Towbin, J A

    2006-01-01

    Background Andersen‐Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. This study sought to analyse KCNJ2 in patients with familial ATS and to determine the functional characteristics of the mutated gene. Methods and results We screened a family with inherited ATS for the mutation in KCNJ2, using direct DNA sequencing. A missense mutation (T75R) of Kir2.1, located in the highly conserved cytoplasmic N‐terminal domain, was identified in three affected members of this family. Using the Xenopus oocyte expression system and whole cell voltage clamp analyses, we found that the T75R mutant was non‐functional and possessed a strong dominant negative effect when co‐expressed with the same amount of wild type Kir2.1. Transgenic (Tg) mice expressing the mutated form of Kir2.1 in the heart had prolonged QTc intervals compared with mice expressing the wild type protein. Ventricular tachyarrhythmias were observed in 5 of 14 T75R‐Tg mice compared with 1 of 7 Wt‐Tg and none of 6 non‐transgenic littermates. In three of five T75R‐Tg mice with ventricular tachycardia, their ECG disclosed bidirectional tachycardia as in our proband. Conclusions The in vitro studies revealed that the T75R mutant of Kir2.1 had a strong dominant negative effect in the Xenopus oocyte expression system. It still preserved the ability to co‐assemble and traffic to the cell membrane in mammalian cells. For in vivo studies, the T75R‐Tg mice had bidirectional ventricular tachycardia after induction and longer QT intervals. PMID:16571646

  19. [Molecular characterization of Streptococcus pyogenes from invasive disease and streptococcal toxic shock syndrome episodes].

    Science.gov (United States)

    Traverso, F; Sparo, M; Rubio, V; Sáez Nieto, J A

    2010-01-01

    Streptococcus pyogenes causes a variety of common human diseases, including pharyngitis, scarlet fever and impetigo. Nevertheless, the past decades have witnessed a worldwide resurgence in invasive disease and streptococcal toxic shock syndrome (STSS). The objective of the present study is to evaluate the genetic diversity, virulence gene distribution (spe, sme and ssa genes) and susceptibility pattern of 10 S. pyogenes isolates causing invasive disease and STSS. The isolates were recovered from blood cultures of hospitalized patients at Hospital Santamarina and Nueva Clínica Chacabuco, Tandil, Buenos Aires, Argentina between 12/2000-04/2005. Two pulse field gel electrophoretic patterns predominated. The most frequent one included 5 characteristic isolates of emm1-T1 type, toxin gene profile speA, speB, speF, speG and smeZ. The second pattern included 2 characteristic isolates of emm3-TNT type (speB, speF, speG). The other 3 isolates corresponded to types emm49-TNT (speB, speC, speF, speG), emm75-T25 (speB, speF, speG) and emm83-TNT (speB, speF, speG, ssa, smeZ). All isolates were susceptible to penicillin, cefotaxime, erythromycin, clindamycin, chloramphenicol, tetracycline and rifampicin. The data from the present study demonstrated genetic diversity among the strains. Types emm1 and emm3 were prevalent in invasive disease. The empirical treatment with the combination of penicillin and clindamicin is still valid.

  20. Genomic characterization of the Guillain-Barre syndrome-associated Campylobacter jejuni ICDCCJ07001 Isolate.

    Directory of Open Access Journals (Sweden)

    Maojun Zhang

    Full Text Available Campylobacter jejuni ICDCCJ07001 (HS:41, ST2993 was isolated from a Guillain-Barré syndrome (GBS patient during a 36-case GBS outbreak triggered by C. jejuni infections in north China in 2007. Sequence analysis revealed that the ICDCCJ07001 genome consisted of 1,664,840 base pairs (bp and one tetracycline resistance plasmid of 44,084 bp. The GC content was 59.29% and 1,579 and 37 CDSs were identified on the chromosome and plasmid, respectively. The ICDCCJ07001 genome was compared to C. jejuni subsp. jejuni strains 81-176, 81116, NCTC11168, RM1221 and C. jejuni subsp. doylei 269.97. The length and organization of ICDCCJ07001 was similar to that of NCTC11168, 81-176 and 81-116 except that CMLP1 had a reverse orientation in strain ICDCCJ07001. Comparative genomic analyses were also carried out between GBS-associated C. jejuni strains. Thirteen common genes were present in four GBS-associated strains and 9 genes mapped to the LOS cluster and the ICDCCJ07001_pTet (44 kb plasmid was mosaic in structure. Thirty-seven predicted CDS in ICDCCJ07001_pTet were homologous to genes present in three virulence-associated plasmids in Campylobacter: 81-176_pTet, pCC31 and 81-176_pVir. Comparative analysis of virulence loci and virulence-associated genes indicated that the LOS biosynthesis loci of ICDCCJ07001 belonged to type A, previously reported to be associated with cases of GBS. The polysaccharide capsular biosynthesis (CPS loci and the flagella modification (FM loci of ICDCCJ07001 were similar to corresponding sequences of strain 260.94 of similar serotype as strain ICDCCJ07001. Other virulence-associated genes including cadF, peb1, jlpA, cdt and ciaB were conserved between the C. jejuni strains examined.

  1. Metabolic profiles characterizing different phenotypes of polycystic ovary syndrome: plasma metabolomics analysis

    Science.gov (United States)

    2012-01-01

    Background Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder accompanied with an increased risk of developing type 2 diabetes mellitus and cardiovascular disease; despite being a common condition, the pathogenesis of PCOS remains unclear. Our aim was to investigate the potential metabolic profiles for different phenotypes of PCOS, as well as for the early prognosis of complications. Methods A total of 217 women with PCOS and 48 healthy women as normal controls were studied. Plasma samples of subjects were tested using two different analytical platforms of metabolomics: 1H nuclear magnetic resonance (NMR) and gas chromatography/time-of-flight mass spectrometry (GC/TOF-MS). Results Our results showed that carbohydrate, lipid and amino acid metabolisms were influenced in PCOS. The levels of lactate, long-chain fatty acids, triglyceride and very low-density lipoprotein were elevated, while glucose, phosphatidylcholine and high-density lipoprotein (HDL) concentrations were reduced in PCOS patients as compared with controls. Additionally, the levels of alanine, valine, serine, threonine, ornithine, phenylalanine, tyrosine and tryptophan were generally increased, whereas the levels of glycine and proline were significantly reduced in PCOS samples compared to controls. Furthermore, the ratio of branched-chain amino acid to aromatic amino acid concentrations (BCAA/AAA) in PCOS plasma was significantly reduced in PCOS patients and was insusceptible to obesity and insulin sensitivity. Conclusions Our results suggested that the enhanced glycolysis and inhibited tricarboxylic acid cycle (TAC) in women with PCOS. Decrease of BCAA/AAA ratio was directly correlated with the development of PCOS. Ovulatory dysfunction of PCOS patients was associated with raised production of serine, threonine, phenylalanine, tyrosine and ornithine. Elevated levels of valine and leucine, and decreased concentrations of glycine in PCOS plasma could contribute to insulin

  2. Metabolic profiles characterizing different phenotypes of polycystic ovary syndrome: plasma metabolomics analysis.

    Science.gov (United States)

    Zhao, Yue; Fu, Li; Li, Rong; Wang, Li-Na; Yang, Yan; Liu, Na-Na; Zhang, Chun-Mei; Wang, Ying; Liu, Ping; Tu, Bin-Bin; Zhang, Xue; Qiao, Jie

    2012-11-30

    Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder accompanied with an increased risk of developing type 2 diabetes mellitus and cardiovascular disease; despite being a common condition, the pathogenesis of PCOS remains unclear. Our aim was to investigate the potential metabolic profiles for different phenotypes of PCOS, as well as for the early prognosis of complications. A total of 217 women with PCOS and 48 healthy women as normal controls were studied. Plasma samples of subjects were tested using two different analytical platforms of metabolomics: 1H nuclear magnetic resonance (NMR) and gas chromatography/time-of-flight mass spectrometry (GC/TOF-MS). Our results showed that carbohydrate, lipid and amino acid metabolisms were influenced in PCOS. The levels of lactate, long-chain fatty acids, triglyceride and very low-density lipoprotein were elevated, while glucose, phosphatidylcholine and high-density lipoprotein (HDL) concentrations were reduced in PCOS patients as compared with controls. Additionally, the levels of alanine, valine, serine, threonine, ornithine, phenylalanine, tyrosine and tryptophan were generally increased, whereas the levels of glycine and proline were significantly reduced in PCOS samples compared to controls. Furthermore, the ratio of branched-chain amino acid to aromatic amino acid concentrations (BCAA/AAA) in PCOS plasma was significantly reduced in PCOS patients and was insusceptible to obesity and insulin sensitivity. Our results suggested that the enhanced glycolysis and inhibited tricarboxylic acid cycle (TAC) in women with PCOS. Decrease of BCAA/AAA ratio was directly correlated with the development of PCOS. Ovulatory dysfunction of PCOS patients was associated with raised production of serine, threonine, phenylalanine, tyrosine and ornithine. Elevated levels of valine and leucine, and decreased concentrations of glycine in PCOS plasma could contribute to insulin sensitivity and could be considered as the

  3. The characterization of obese polycystic ovary syndrome rat model suitable for exercise intervention.

    Directory of Open Access Journals (Sweden)

    Chuyan Wu

    Full Text Available To develop a new polycystic ovary syndrome (PCOS rat model suitable for exercise intervention.Thirty six rats were randomly divided into three experimental groups: PCOS rats with high-fat diet (PF, n = 24, PCOS rats with ordinary diet (PO, n = 6, and control rats with ordinary diet (CO, n = 6. Two kinds of PCOS rat model were made by adjustment diet structure and testosterone injection for 28 days. After a successful animal model, PF model rats were randomly assigned to three groups: exercise with a continuation of high-fat diet (PF-EF, n = 6, sedentary with a continuation of high-fat diet (PF-SF, n = 6, exercise with an ordinary diet (PF-EO, n = 6. Fasting blood glucose (FBG and insulin (FINS, estrogen (E2, progesterone (P, and testosterone (T in serum were determined by RIA, and ovarian morphology was evaluated by Image-Pro plus 6.0.Body weight, Lee index, FINS increased significantly in PF rat model. Serum levels of E2 and T were significantly higher in PF and PO than in CO. Ovary organ index and ovarian areas were significant lower in PF than in CO. After intervention for 2 weeks, the levels of 1 h postprandial blood glucose (PBG1, 2 h postprandial blood glucose (PBG2, FINS and the serum levels of T decreased significantly in PF-EF rats and PF-EO rats. The ratio of FBG/FINS was significant higher in PF-EO rats than in PF-SF rats. Ovarian morphology showed that the numbers of preantral follicles and atretic follicles decreased significantly, and the numbers of antral follicles and corpora lutea increased significantly in the rats of PF-EF and PF-EO.By combination of high-fat diet and testosterone injection, the obese PCOS rat model is conformable with the lifestyle habits of fatty foods and insufficient exercise, and has metabolic and reproductive characteristics of human PCOS. This model can be applied to study exercise intervention.

  4. Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein.

    Science.gov (United States)

    Citterio, E; Rademakers, S; van der Horst, G T; van Gool, A J; Hoeijmakers, J H; Vermeulen, W

    1998-05-08

    Cockayne syndrome (CS) is a nucleotide excision repair disorder characterized by sun (UV) sensitivity and severe developmental problems. Two genes have been shown to be involved: CSA and CSB. Both proteins play an essential role in preferential repair of transcription-blocking lesions from active genes. In this study we report the purification and characterization of baculovirus-produced HA-His6-tagged CSB protein (dtCSB), using a highly efficient three-step purification protocol. Microinjection of dtCSB protein in CS-B fibroblasts shows that it is biologically functional in vivo. dtCSB exhibits DNA-dependent ATPase activity, stimulated by naked as well as nucleosomal DNA. Using structurally defined DNA oligonucleotides, we show that double-stranded DNA and double-stranded DNA with partial single-stranded character but not true single-stranded DNA act as efficient cofactors for CSB ATPase activity. Using a variety of substrates, no overt DNA unwinding by dtCSB could be detected, as found with other SNF2/SWI2 family proteins. By site-directed mutagenesis the invariant lysine residue in the NTP-binding motif of CSB was substituted with a physicochemically related arginine. As expected, this mutation abolished ATPase activity. Surprisingly, the mutant protein was nevertheless able to partially rescue the defect in recovery of RNA synthesis after UV upon microinjection in CS-B fibroblasts. These results indicate that integrity of the conserved nucleotide-binding domain is important for the in vivo function of CSB but that also other properties independent from ATP hydrolysis may contribute to CSB biological functions.

  5. Syndrome of allergy, apraxia, and malabsorption: characterization of a neurodevelopmental phenotype that responds to omega 3 and vitamin E supplementation.

    Science.gov (United States)

    Morris, Claudia R; Agin, Marilyn C

    2009-01-01

    Verbal apraxia is a neurologically based motor planning speech disorder of unknown etiology common in autism spectrum disorders. Vitamin E deficiency causes symptoms that overlap those of verbal apraxia. Polyunsaturated fatty acids in the cell membrane are vulnerable to lipid peroxidation and early destruction if vitamin E is not readily available, potentially leading to neurological sequelae. Inflammation of the gastrointestinal (GI) tract and malabsorption of nutrients such as vitamin E and carnitine may contribute to neurological abnormalities. The goal of this investigation was to characterize symptoms and metabolic anomalies of a subset of children with verbal apraxia who may respond to nutritional interventions. A total of 187 children with verbal apraxia received vitamin E + polyunsaturated fatty acid supplementation. A celiac panel, fat-soluble vitamin test, and carnitine level were obtained in patients having blood analyzed. A common clinical phenotype of male predominance, autism, sensory issues, low muscle tone, coordination difficulties, food allergy, and GI symptoms emerged. In all, 181 families (97%) reported dramatic improvements in a number of areas including speech, imitation, coordination, eye contact, behavior, sensory issues, and development of pain sensation. Plasma vitamin E levels varied in children tested; however, pretreatment levels did not reflect clinical response. Low carnitine (20/26), high antigliadin antibodies (15/21), gluten-sensitivity HLA alleles (10/10), and zinc (2/2) and vitamin D deficiencies (4/7) were common abnormalities. Fat malabsorption was identified in 8 of 11 boys screened. We characterize a novel apraxia phenotype that responds to polyunsaturated fatty acids and vitamin E. The association of carnitine deficiency, gluten sensitivity/food allergy, and fat malabsorption with the apraxia phenotype suggests that a comprehensive metabolic workup is warranted. Appropriate screening may identify a subgroup of children with

  6. Pathology and Molecular Characterization of Escherichia Coli Associated With the Avian Salpingitis-Peritonitis Disease Syndrome.

    Science.gov (United States)

    Heidemann Olsen, Rikke; Bisgaard, Magne; Christensen, Jens Peter; Kabell, Susanne; Christensen, Henrik

    2016-03-01

    Outbreaks of salpingitis and peritonitis cause major economic losses due to high mortality, reduced egg-production, and culling. The aim of the present study was to characterize, in detail, lesions associated with increased mortality in layers due to avianpathogenic Escherichia coli (APEC) and to investigate the population structure of the E. coli involved, which is important for selection of optimal treatment and prophylactic strategies. Among 322 layers received from eight farms with increased mortality due to E. coli, three lesion types were observed; sepsis-like lesions, chronic salpingitis and peritonitis, and chronic salpingitis and peritonitis associated with sepsis-like lesions. One hundred isolates of E. coli obtained in pure culture from the different lesion types were selected for genetic characterization. Six out of 10 submissions (two farms with two submissions) were considered clonal as defined by more than 85% of the typed isolates of E. coli belonging to the same sequence-type (ST). B2 was the most-prevalent phylogroup, including the clonal complex of ST95. The most-important virulence genes of E. coli were demonstrated from both clonal and nonclonal outbreaks, and major differences as to phylogeny and virulence genes were not observed between the lesion types. Cannibalism was more-often observed during polyclonal outbreaks. A new pathotype of APEC is suggested based upon lesions and route of infection, high similarity of virulence genes including plasmid-associated genes, and high frequency of ST95 and other isolates belonging to phylogroup B2. Compared to the best-known pathotypes of E. coli, this needs further investigations, including infection experiments to show if single virulence factors can be pointed out that are specific for the salpingitis-peritonitis pathotype and possibly not found in other pathotypes of E. coli.

  7. Characterization of Whole Body Pain in Urologic Chronic Pelvic Pain Syndrome at Baseline – A MAPP Research Network Study

    Science.gov (United States)

    Lai, H. Henry; Jemielita, Thomas; Sutcliffe, Siobhan; Bradley, Catherine S.; Naliboff, Bruce; Williams, David A.; Gereau, Robert W.; Kreder, Karl; Clemens, J. Quentin; Rodriguez, Larissa V.; Krieger, John N.; Farrar, John T.; Robinson, Nancy; Landis, J. Richard

    2017-01-01

    Purpose We characterized the location and spatial distribution of whole body pain among patients with urologic chronic pelvic pain syndrome (UCPPS) using a body map; and compared the severity of urinary symptoms, pelvic pain, non-pelvic pain, and psychosocial health among patients with different pain patterns. Methods 233 women and 191 men with UCPPS enrolled in a multi-center, one-year observational study completed a battery of baseline measures, including a body map describing the location of pain during the past week. Participants were categorized as having “pelvic pain only” if they reported pain in the abdomen and pelvis only. Participants who reported pain beyond the pelvis were further divided into two sub-groups based on the number of broader body regions affected by pain: an “intermediate” group (1–2 additional regions outside the pelvis) and a “widespread pain” group (3–7 additional regions). Results Of the 424 enrolled patients 25% reported pelvic pain only, and 75% reported pain beyond the pelvis of which 38% reported widespread pain. Participants with greater number of pain locations had greater non-pelvic pain severity (ppelvic pain and urinary symptom severity were observed by increasing pain distribution. Conclusions Three-quarters of men and women with UCPPS reported pain outside the pelvis. Widespread pain was associated with greater severity of non-pelvic pain symptoms, poorer psychosocial health and worse quality of life, but not worse pelvic pain or urinary symptoms. PMID:28373134

  8. Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes.

    Science.gov (United States)

    de Rooij, Jasmijn D E; Branstetter, Cristyn; Ma, Jing; Li, Yongjin; Walsh, Michael P; Cheng, Jinjun; Obulkasim, Askar; Dang, Jinjun; Easton, John; Verboon, Lonneke J; Mulder, Heather L; Zimmermann, Martin; Koss, Cary; Gupta, Pankaj; Edmonson, Michael; Rusch, Michael; Lim, Joshua Yew Suang; Reinhardt, Katarina; Pigazzi, Martina; Song, Guangchun; Yeoh, Allen Eng Juh; Shih, Lee-Yung; Liang, Der-Cherng; Halene, Stephanie; Krause, Diane S; Zhang, Jinghui; Downing, James R; Locatelli, Franco; Reinhardt, Dirk; van den Heuvel-Eibrink, Marry M; Zwaan, C Michel; Fornerod, Maarten; Gruber, Tanja A

    2017-03-01

    Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) in which cells morphologically resemble abnormal megakaryoblasts. While rare in adults, AMKL accounts for 4-15% of newly diagnosed childhood AML cases. AMKL in individuals without Down syndrome (non-DS-AMKL) is frequently associated with poor clinical outcomes. Previous efforts have identified chimeric oncogenes in a substantial number of non-DS-AMKL cases, including RBM15-MKL1, CBFA2T3-GLIS2, KMT2A gene rearrangements, and NUP98-KDM5A. However, the etiology of 30-40% of cases remains unknown. To better understand the genomic landscape of non-DS-AMKL, we performed RNA and exome sequencing on specimens from 99 patients (75 pediatric and 24 adult). We demonstrate that pediatric non-DS-AMKL is a heterogeneous malignancy that can be divided into seven subgroups with varying outcomes. These subgroups are characterized by chimeric oncogenes with cooperating mutations in epigenetic and kinase signaling genes. Overall, these data shed light on the etiology of AMKL and provide useful information for the tailoring of treatment.

  9. HIV–tuberculosis-associated immune reconstitution inflammatory syndrome is characterized by Toll-like receptor and inflammasome signalling

    Science.gov (United States)

    Lai, Rachel P. J.; Meintjes, Graeme; Wilkinson, Katalin A.; Graham, Christine M.; Marais, Suzaan; Van der Plas, Helen; Deffur, Armin; Schutz, Charlotte; Bloom, Chloe; Munagala, Indira; Anguiano, Esperanza; Goliath, Rene; Maartens, Gary; Banchereau, Jacques; Chaussabel, Damien; O'Garra, Anne; Wilkinson, Robert J.

    2015-01-01

    Patients with HIV-associated tuberculosis (TB) initiating antiretroviral therapy (ART) may develop immune reconstitution inflammatory syndrome (TB-IRIS). No biomarkers for TB-IRIS have been identified and the underlying mechanisms are unclear. Here we perform transcriptomic profiling of the blood samples of patients with HIV-associated TB. We identify differentially abundant transcripts as early as week 0.5 post ART initiation that predict downstream activation of proinflammatory cytokines in patients who progress to TB-IRIS. At the characteristic time of TB-IRIS onset (week 2), the signature is characterized by over-representation of innate immune mediators including TLR signalling and TREM-1 activation of the inflammasome. In keeping with the transcriptional data, concentrations of plasma cytokines and caspase-1/5 are elevated in TB-IRIS. Inhibition of MyD88 adaptor and group 1 caspases reduces secretion of cytokines including IL-1 in TB-IRIS patients. These data provide insight on the pathogenesis of TB-IRIS and may assist the development of specific therapies. PMID:26399326

  10. HIV-tuberculosis-associated immune reconstitution inflammatory syndrome is characterized by Toll-like receptor and inflammasome signalling.

    Science.gov (United States)

    Lai, Rachel P J; Meintjes, Graeme; Wilkinson, Katalin A; Graham, Christine M; Marais, Suzaan; Van der Plas, Helen; Deffur, Armin; Schutz, Charlotte; Bloom, Chloe; Munagala, Indira; Anguiano, Esperanza; Goliath, Rene; Maartens, Gary; Banchereau, Jacques; Chaussabel, Damien; O'Garra, Anne; Wilkinson, Robert J

    2015-09-24

    Patients with HIV-associated tuberculosis (TB) initiating antiretroviral therapy (ART) may develop immune reconstitution inflammatory syndrome (TB-IRIS). No biomarkers for TB-IRIS have been identified and the underlying mechanisms are unclear. Here we perform transcriptomic profiling of the blood samples of patients with HIV-associated TB. We identify differentially abundant transcripts as early as week 0.5 post ART initiation that predict downstream activation of proinflammatory cytokines in patients who progress to TB-IRIS. At the characteristic time of TB-IRIS onset (week 2), the signature is characterized by over-representation of innate immune mediators including TLR signalling and TREM-1 activation of the inflammasome. In keeping with the transcriptional data, concentrations of plasma cytokines and caspase-1/5 are elevated in TB-IRIS. Inhibition of MyD88 adaptor and group 1 caspases reduces secretion of cytokines including IL-1 in TB-IRIS patients. These data provide insight on the pathogenesis of TB-IRIS and may assist the development of specific therapies.

  11. FROM FAMILIES SYNDROMES TO GENES… THE FIRST CLINICAL AND GENETIC CHARACTERIZATIONS OF HEREDITARY SYNDROMES PREDISPOSING TO CANCER: WHAT WAS THE BEGINNING?

    Directory of Open Access Journals (Sweden)

    Charité Ricker, MS, LCGC

    2017-07-01

    Full Text Available Assessment for hereditary susceptibility to cancer is considered standard of care, as it impacts not only a clinician's understanding of cancer causation but also options for prevention and treatment. The roots of our current knowledge about hereditary cancer syndromes can be traced to early reports of families with striking cancer histories. The purpose of this article is to review the historical timeline of the two most commonly assessed hereditary cancer syndromes, hereditary breast and ovarian cancer (HBOC and Lynch syndrome (LS. While many individuals identified with these syndromes today come from families similar to those seen in the early historical reports, our understanding of these syndromes, their expression and penetrance, has evolved over the years. In addition, the increased utilization of broad multi-gene panels continues to add to the complexity of defining associated phenotypes. These findings can lead to challenges with translating results to clinical management for patients and families, but also provide an opportunity to continue to gain understanding of the genetic underpinnings of cancer etiology.

  12. [Cardiorenal syndromes].

    Science.gov (United States)

    Késöi, István; Sági, Balázs; Vas, Tibor; Pintér, Tünde; Kovács, Tibor; Wittmann, István; Nagy, Judit

    2011-09-18

    Cardiac and kidney diseases are very common, and increasingly coexist. Classification for cardiorenal syndrome and for its specific subtypes has been developed and published recently by a consensus group of the Acute Dialysis Quality Initiative. Cardiorenal syndromes have been classified according to whether the impairment of each organ is primary, secondary or whether heart and kidney dysfunction occurs simultaneously as a systemic disease. The different syndromes were classified into five subtypes. Type-1: acute cardiorenal syndrome: an abrupt worsening of cardiac function leading to acute kidney injury and/or dysfunction. Type-2: chronic cardiorenal syndrome: chronic abnormalities in cardiac function causing kidney injury and/or dysfunction. Type-3: acute renocardiac syndrome: abrupt worsening of kidney function leading to heart injury and/or dysfunction. Type-4: chronic renocardiac syndrome: chronic kidney diseases leading to heart injury, disease and/or dysfunction. Type-5: secondary cardiorenal syndrome: acute or chronic systemic diseases leading to simultaneous injury and/or dysfunction of heart and kidney. The identification of patients and the pathophysiological mechanisms underlying each syndrome subtype will help cardiologists, nephrologists and physicians working on intensive care units to characterize groups of their patients with cardiac and renal impairment and to provide a more accurate treatment for them.

  13. Inhalant allergy compounding the chronic vaginitis syndrome: characterization of sensitization patterns, comorbidities and responses to sublingual immunotherapy.

    Science.gov (United States)

    Theodoropoulos, Demetrios S; Stockdale, Colleen K; Duquette, Daniel R; Morris, Mary S

    2016-09-01

    To characterize sensitization patterns, diagnoses and comorbidities, and to assess the response of lower genital tract symptoms to sublingual immunotherapy for airborne allergens in a select population of patients with chronic vaginitis. Fifty-two patients referred for allergy evaluation over a 44 month period were studied. Charts were retrospectively reviewed to establish: (1) gynecological diagnoses, (2) allergic-immunological diagnoses, and (3) IgE-mediated sensitivity to airborne allergens on presentation. Patients were contacted at 9-50 months of treatment to assess response to sublingual immunotherapy based on a questionnaire addressing frequency and severity of symptoms and use of medication to control symptoms. Recurrent vulvovaginal candidiasis was identified in 34 (65 %); vulvar vestibulitis syndrome in 12 (23 %); and contact dermatitis in 10 (19 %) patients. Comorbidities included: non-reflux gastrointestinal complaints in 11 (21 %), gastroesophageal reflux in 5 (9 %), migraines in 9 (17 %), chronic non-migrainous headaches in 8 (17 %), and chronic sinusitis in 6 patients (11 %). Asthma was diagnosed in 8 patients (15 %). Oral allergy syndrome was present in 6 (11 %). Most frequent sensitivities were to: ragweed in 33 (63 %), molds in 26 (50 %), dust mites in 23 (44 %), and grass in 12 (23 %) patients. Mono-sensitization was demonstrated for ragweed in 7 (13 %), and for molds, dust mites and grass for 3 (5 %) patients each. Candida sensitization was identified in 15 patients with chronic vaginitis (28 %). Eleven patients with recurrent vulvovaginal diagnosis (32 %) showed Candida sensitization. Response to immunotherapy was generally favorable with pruritus/irritation being more responsive than visceral pain. In a Midwestern referral population, chronic vaginitis compounded by inhalant allergy showed: (1) high incidence rate of recurrent vulvo-vaginal candidiasis, (2) Candida IgE-mediated sensitization in less than one-third of

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

    NARCIS (Netherlands)

    Jansen, M.

    2008-01-01

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

  15. Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report ...

    African Journals Online (AJOL)

    Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy. This classic triad occurs in less than one half of patients, probably in one-third, thus requiring a high index of suspicion to diagnose. Consequently ...

  16. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  17. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

    Directory of Open Access Journals (Sweden)

    Friedrich Christopher A

    2008-04-01

    Full Text Available Abstract Background Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported. Results In this study we describe 14 individuals with microdeletions of 3q29, including one family with a mildly affected mother and two affected children, identified among 14,698 individuals with idiopathic mental retardation who were analyzed by array CGH. Eleven individuals had typical 1.6-Mb deletions. Three individuals had deletions that flank, span, or partially overlap the commonly deleted region. Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly. We also identified 19 individuals with duplications of 3q29, five of which appear to be the reciprocal duplication product of the 3q29 microdeletion and 14 of which flank, span, or partially overlap the common deletion region. The clinical features of individuals with microduplications of 3q29 also varied with few common features. De novo and inherited abnormalities were found in both the microdeletion and microduplication cohorts illustrating the need for parental samples to fully characterize these abnormalities. Conclusion Our report demonstrates that array CGH is especially suited to identify chromosome abnormalities with unclear or variable presentations.

  18. Microphthalmia with linear skin defects syndrome (MLS): Characterization of the critical region and isolation of candidate genes

    Energy Technology Data Exchange (ETDEWEB)

    Schaefer, L.; Wapenaar, M.C.; Grillo, A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Microphthalmia with linear skin defects syndrome (MLS) is an X-linked male-lethal disorder characterized by abnormalities in the development of the eye, skin, and brain. We defined the MLS critical region through analysis of hybrid cell lines retaining various deletion breakpoints in Xp22, including cell lines from 17 female patients showing features of MLS. Using a combination of YAC cloning and long-range restriction analysis, the MLS candidate region was estimated to be 450-550 kb. A minimally overlapping cosmid contig comprised of 20 cosmid clones was subsequently developed in this region. These cosmids are currently being used to isolate expressed sequences using cross-species conservation studies and exon-trapping. An evolutionarily conserved sequence isolated from a cosmid within the critical region has been used to isolate several overlapping cDNAs from a human embryonic library. Northern analysis using these cDNA clones identified a 5.2 kb transcript in all tissues examined. Sequence analysis revealed a 777 base pair open reading frame encoding a putative 258 amino acid protein. Using the exon-trapping method, fifty-four putative exons have been isolated from fourteen cosmids within the critical region. The expression patterns of the genes containing these exons are being analyzed by polymerase chain reaction (PCR) using reverse-transcribed mRNA from several human tissues and primers corresponding to the exon sequences. Using this approach in combination with exon connection, we determined the four of the trapped exons belong to the same cDNA transcript, which is expressed in adult retina, lymphoblast, skeletal muscle, and fetal brain. To date, we have isolated and sequenced 1 kilobase of this gene, all of which appears to be open reading frame. Both of the genes isolated from the critical region are being analyzed as possible candidates for MLS.

  19. Morphological and molecular characterizations of psychrophilic fungus Geomyces destructans from New York bats with White Nose Syndrome (WNS.

    Directory of Open Access Journals (Sweden)

    Vishnu Chaturvedi

    Full Text Available BACKGROUND: Massive die-offs of little brown bats (Myotis lucifugus have been occurring since 2006 in hibernation sites around Albany, New York, and this problem has spread to other States in the Northeastern United States. White cottony fungal growth is seen on the snouts of affected animals, a prominent sign of White Nose Syndrome (WNS. A previous report described the involvement of the fungus Geomyces destructans in WNS, but an identical fungus was recently isolated in France from a bat that was evidently healthy. The fungus has been recovered sparsely despite plentiful availability of afflicted animals. METHODOLOGY/PRINCIPAL FINDINGS: We have investigated 100 bat and environmental samples from eight affected sites in 2008. Our findings provide strong evidence for an etiologic role of G. destructans in bat WNS. (i Direct smears from bat snouts, Periodic Acid Schiff-stained tissue sections from infected tissues, and scanning electron micrographs of bat tissues all showed fungal structures similar to those of G. destructans. (ii G. destructans DNA was directly amplified from infected bat tissues, (iii Isolations of G. destructans in cultures from infected bat tissues showed 100% DNA match with the fungus present in positive tissue samples. (iv RAPD patterns for all G. destructans cultures isolated from two sites were indistinguishable. (v The fungal isolates showed psychrophilic growth. (vi We identified in vitro proteolytic activities suggestive of known fungal pathogenic traits in G. destructans. CONCLUSIONS/SIGNIFICANCE: Further studies are needed to understand whether G. destructans WNS is a symptom or a trigger for bat mass mortality. The availability of well-characterized G. destructans strains should promote an understanding of bat-fungus relationships, and should aid in the screening of biological and chemical control agents.

  20. Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Fu Fang

    2011-03-01

    Full Text Available Abstract Introduction The co-occurrence of ring chromosome 13 syndrome and 47, XYY syndrome in the same individual is rare. To the best of our knowledge, this is the first report of the co-existence of this kind of chromosome aberrations. At present, the deletion 13q syndrome is divided into three groups based on the deletion's location relative to chromosomal band 13q32. Group 1 (proximal to q32 and group 2 (including q32 have shown distinctive phenotypes including mental retardation and growth deficiency. Group 3 (q33-34 deletion is defined by the presence of mental retardation but there is usually an absence of major malformations. Case presentation We describe a 10-month-old Chinese Han boy presenting with severe mental retardation, profound congenital bilateral hearing loss with a terminal 13q33.2 deletion and multiple malformations. Routine chromosome analysis disclosed a de novo complex karyotype 47, XYY, r(13(p11q34. Further investigation by high resolution array-based comparative genomic hybridization delineated an 8.5 Mb terminal deletion on the long arm of chromosome 13(13q33.2→q34. Conclusion The co-occurrence of double syndromes in the same individual is rare and its clinical presentation is variable depending on the predominating abnormality or a combination of the effect of both. Hearing impairment is suggested as another new clinical feature to 13qter deletion. This case report will contribute to more accurate genetic counselling and provide further insight to the syndrome.

  1. Treacher Collins syndrome

    Directory of Open Access Journals (Sweden)

    Y Samata

    2008-01-01

    Full Text Available Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

  2. Treacher Collins syndrome

    OpenAIRE

    Y Samata; K S Ganapathy; S Latha; B N Padmavathi

    2008-01-01

    Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

  3. Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne syndrome A (CSA) gene.

    OpenAIRE

    P.K Bhatia; Verhage, R.A.; Brouwer, J; Friedberg, E C

    1996-01-01

    Cockayne syndrome patients exhibit severe developmental and neurological abnormalities. Cells derived from these patients are sensitive to killing by UV radiation and do not support the rapid repair of the transcribed strand of transcriptionally active genes observed in cells from normal individuals. We report the cloning of the Saccharomyces cerevisiae homolog of the Cockayne syndrome A (CSA) gene, which we designate as RAD28. A rad28 null mutant does not manifest increased sensitivity to ki...

  4. Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.

    Science.gov (United States)

    Chen, Chih-Ping; Wang, Liang-Kai; Wu, Pei-Chen; Chang, Tung-Yao; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Lee, Chen-Chi; Yang, Chien-Wen; Wang, Wayseen

    2017-02-01

    We present molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle (DORV), hypoplastic left heart syndrome (HLHS), and ductus venosus (DV) agenesis on prenatal ultrasound. A 26-year-old woman underwent prenatal ultrasound examination at 22 weeks of gestation, which revealed intrauterine growth restriction, short femurs, DORV, HLHS, DV agenesis, single umbilical artery, and curly fourth toe of the left foot. The parents elected to terminate the pregnancy, and a 500-g female fetus was delivered at 23 weeks of gestation with facial dysmorphism, bilateral camptodactyly, and hammertoes. The parental karyotypes were normal. Cytogenetic analysis of the cord blood and umbilical cord revealed a karyotype of 46,XX,del(11)(q23). Array comparative genomic hybridization analysis of the DNA extracted from the umbilical cord revealed a 14.38-Mb deletion of 11q23.3-q25 encompassing BSX, ETS1, FLI1, and ARHGAP32. Metaphase fluorescence in situ hybridization analysis using the probes RP11-209L12 (11q25) and RP11-25M7 (11q11) showed a distal 11q deletion in the aberrant chromosome 11 in 17/17 cells examined. Prenatal diagnosis of DORV, HLHS, DV agenesis associated with intrauterine growth restriction and short limbs should include a differential diagnosis of Jacobsen syndrome. Copyright © 2017 Taiwan Association of Obstetrics & Gynecology. Published by Elsevier B.V. All rights reserved.

  5. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  6. Familial Miller Fisher syndrome.

    Science.gov (United States)

    Peeples, Eric

    2011-05-01

    Miller Fisher syndrome is an acute inflammatory polyradiculoneuropathy that is generally considered a variant of Guillain-Barré syndrome and is characterized by the clinical triad of ataxia, areflexia, and ophthalmoplegia. Several reports of familial Guillain-Barré syndrome have been reported, indicating a possible underlying genetic and/or environmental predisposition to the development of Guillain-Barré syndrome. A familial association in Miller Fisher syndrome has not previously been described in the literature. We report 2 cases of Miller Fisher syndrome presenting simultaneously in siblings, with a review of recent relevant literature.

  7. [Heptopulmonary syndrome].

    Science.gov (United States)

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

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  8. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

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

  9. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  10. A case of goldenhar's syndrome

    OpenAIRE

    Atabey, A.; Barutçu, A.

    1992-01-01

    Goldenhar's syndrome (Goldenhar-Gorlin syndrome, facioauricuiovertebral sequence, oculoauriculoverteb- ral dysplasia) is a variant of craniofacial microsomia (first and second branchial arch syndrome). It is generally characterized by epibulbar dermoids and/or lipo- dermoids, pretragal blinded fistulas, skin tags on the cheek and vertebral anomalies. A 24-year-old female patient with Goldenhar's syndrome was presented in this paper.

  11. CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome.

    Science.gov (United States)

    Talwar, D; Smith, S A

    1989-10-01

    CAMFAK syndrome is an inherited disease characterized by congenital cataracts, microcephaly, failure to thrive, and kyphoscoliosis with onset in early infancy. Its pathogenesis has not been clearly defined. We report on a patient with this syndrome and present evidence that it is a neurologic disease characterized by peripheral and central demyelination similar to that seen in Cockayne syndrome.

  12. Genetics Home Reference: hyperferritinemia-cataract syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Hyperferritinemia-cataract syndrome Hyperferritinemia-cataract syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Hyperferritinemia-cataract syndrome is a disorder characterized by an excess ...

  13. Genetics Home Reference: nail-patella syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Nail-patella syndrome Nail-patella syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Nail-patella syndrome is characterized by abnormalities of the nails, ...

  14. Genetics Home Reference: Schwartz-Jampel syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Schwartz-Jampel syndrome Schwartz-Jampel syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Schwartz-Jampel syndrome is a rare condition characterized by ...

  15. Sotos syndrome

    OpenAIRE

    A Juneja; Sultan, A.

    2007-01-01

    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...

  16. 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.

  17. Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

    Science.gov (United States)

    Carreño-Gago, Lidia; Gamez, Josep; Cámara, Yolanda; Alvarez de la Campa, Elena; Aller-Alvarez, Juan Sebastian; Moncho, Dulce; Salvado, Maria; Galan, Alicia; de la Cruz, Xavier; Pinós, Tomàs; García-Arumí, Elena

    2017-01-01

    Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by bilateral acute or subacute progressive central visual loss. Most cases of LHON syndrome are caused by point mutations in the MT-ND1, MT-ND4, and MT-ND6 genes. Here, we report a novel homoplasmic mutation in the MT-ND1 gene (m.3634A>G, p.Ser110Gly) in a patient with the classical clinical features of LHON syndrome. Several observations support the idea that the mutation is pathogenic and involved in the clinical phenotype of the patient: 1) The mutation affected a highly conserved amino acid, 2) A pathogenic mutation in the same amino acid (m.3635G>A, p.Ser110Asn) was previously reported in a patient with LHON syndrome, 3) The mutation is not recorded in the Mitomap or Human Mitochondrial Genome Database, 4) In silico predictors classified the mutation as "probably damaging", and 5) Cybrids carrying the mutation showed decreased Complex I enzyme activity, lower cell proliferation, and decreased mitochondrial membrane potential relative to control cybrids. Copyright © 2016 Elsevier B.V. All rights reserved.

  18. Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family.

    Science.gov (United States)

    Arenas Valencia, Carolina; Rodríguez López, Martha Lucia; Cardona Barreto, Andrea Yimena; Garavito Rodríguez, Edgar; Arteaga Díaz, Clara Eugenia

    2017-01-01

    Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC) is a rare disease and since the first report, it has been found in just over 200 families approximately, around the world (Smit et al. in Clin Genet 79:49-59, 2009). Patients in Colombia or in Latin America have not been described, as far as we know. HLRCC is inherited in an autosomal dominant manner, and it is caused by heterozygous germline mutations in the FH gene, which encodes the fumarate hydratase enzyme. It is characterized mainly by the appearance of cutaneous and uterine leiomyomas, and an early-onset, aggressive form of type 2- papillary renal cell carcinoma (Smit et al. in Clin Genet 79:49-59, 2009; Schmidt and Linehan in Int J Nephrol Renovasc Dis 7:253-260, 2014]. We report a Colombian family with HLRCC syndrome, with a novel mutation in FH gene (c.1349_1352delATGA) in which cutaneous leiomyomas have not been found, but other clinical manifestations such as type 2- papillary renal cell carcinoma, uterine leiomyomas and rare tumors were present. This investigation constitutes the first report of HLRCC syndrome in Colombia, and probably in Latin America.

  19. Molecular characterization of a heterothallic mating system in Pseudogymnoascus destructans, the fungus causing white-nose syndrome of bats

    Science.gov (United States)

    Jonathan M. Palmer; Alena Kubatova; Alena. Novakova; Andrew M. Minnis; Miroslav Kolarik; Daniel L. Lindner

    2014-01-01

    White-nose syndrome (WNS) of bats has devastated bat populations in eastern North America since its discovery in 2006. WNS, caused by the fungus Pseudogymnoascus destructans, has spread quickly in North America and has become one of the most severe wildlife epidemics of our time. While P. destructans is spreading rapidly in North...

  20. Gait Pattern in Two Rare Genetic Conditions Characterized by Muscular Hypotonia: Ehlers-Danlos and Prader-Willi Syndrome

    Science.gov (United States)

    Cimolin, Veronica; Galli, Manuela; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

    2011-01-01

    This study aimed to quantify and compare the gait pattern in Ehlers-Danlos (EDS) and Prader-Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters…

  1. The fragile X syndrome: Isolation of the FMR-1 gene and characterization of the fragile X mutation

    NARCIS (Netherlands)

    B.A. Oostra (Ben); A. Verkerk

    1992-01-01

    markdownabstractConclusion Rapid progress has been made in the analysis of the fragile X syndrome during 1991. Different groups have discovered that fragile X chromosomes are preferentially methylated. In these X chromosomes an insertion has been found in the methylated region. The FMR-1 gene,

  2. CT and MRI findings of 144 patients with West syndrome. Characterization of the cerebral lesion and its topography

    Energy Technology Data Exchange (ETDEWEB)

    Hamano, Shin-ichiro; Tanaka, Manabu; Mochizuki, Mika; Sugiyama, Nobuyoshi; Nara, Takahiro; Oguma, Eiji [Saitama Children' s Medical Center, Iwatsuki (Japan); Eto, Yoshikatsu [Jikei Univ., Tokyo (Japan). School of Medicine

    2002-09-01

    In West syndrome, although classified as a generalized epilepsy, there are some patients reported to have became seizure-free and have good outcomes in the developmental aspect after resections of localized lesions. We reviewed computed tomography and magnetic resonance imaging of 144 patients with West syndrome and classified them into four categories depending on the distribution of lesion: normal group, diffuse group, disseminated group, localized group. Thirty-three patients belong to the normal group after having reviewed images from computed tomography and magnetic resonance imaging. The diffuse group consisted of 83 patients presenting morphologic abnormalities such as, diffuse cerebral atrophy, periventricular leukomalesia or polycystic encephalomalesia; the disseminated group included 17 patients having a diagnosis of tuberoius sclerosis, multiple cortical dysplasia or multiple cortical heterotopias. The lesions of all eleven patients with localized cerebral lesions involved the temporal and/or occipital lobes. Nine of the eleven patients with localized cerebral lesions had the lesions on the right side. These results suggest that the specificity of lesion topography of temporo-occipital regions and the right-side in West syndrome will have a close correlation with normal brain maturation, from the viewpoint of development of myelination and cerebral blood flow, and related with the genesis of West syndrome. (author)

  3. Structural characterization of Campylobacter jejuni lipooligosaccharide outer cores associated with Guillain-Barré and Miller Fisher syndromes

    NARCIS (Netherlands)

    P.C.R. Godschalk (Peggy); M.L. Kuijf (Mark); J. Li (Jianjun); F. St. Michael (Frank); C.W. Ang (Wim); M.F. Karwaski; D. Brochu (Denis); B.C. Jacobs (Bart); A. Moterassed (Ali); H.P. Endtz (Hubert); A.F. van Belkum (Alex); M. Gilbert (Michel)

    2007-01-01

    textabstractMolecular mimicry between lipooligosaccharides (LOS) of Campylobacter jejuni and gangliosides in peripheral nerves plays a crucial role in the pathogenesis of C. jejuni-related Guillain-Barré syndrome (GBS). We have analyzed the LOS outer core structures of 26 C. jejuni strains

  4. Oral Language Impairments in Developmental Disorders Characterized by Language Strengths: A Comparison of Asperger Syndrome and Nonverbal Learning Disabilities

    Science.gov (United States)

    Stothers, M. E.; Cardy, J. Oram

    2012-01-01

    Asperger syndrome (AS) and nonverbal learning disabilities (NLD) are developmental disorders in which linguistic ability is reported to be stronger than in disorders from which they must be distinguished for diagnosis. Children and adults with AS and NLD share pragmatic weaknesses, atypical social behaviours, and some cognitive features. To date,…

  5. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

    NARCIS (Netherlands)

    Maria, M.; Lamers, I.J.C.; Schmidts, M.; Ajmal, M.; Jaffar, S.; Ullah, E.; Mustafa, B.; Ahmad, S.; Nazmutdinova, K.; Hoskins, B.; Wijk, E. van; Koster-Kamphuis, L.; Khan, M.I.; Beales, P.L.; Cremers, F.P.M.; Roepman, R.; Azam, M.; Arts, H.H.; Qamar, R.

    2016-01-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell's signaling hub. In the current

  6. Rooting the phylogenetic tree of middle East respiratory syndrome coronavirus by characterization of a conspecific virus from an African bat.

    Science.gov (United States)

    Corman, Victor Max; Ithete, Ndapewa Laudika; Richards, Leigh Rosanne; Schoeman, M Corrie; Preiser, Wolfgang; Drosten, Christian; Drexler, Jan Felix

    2014-10-01

    The emerging Middle East respiratory syndrome coronavirus (MERS-CoV) causes lethal respiratory infections mainly on the Arabian Peninsula. The evolutionary origins of MERS-CoV are unknown. We determined the full genome sequence of a CoV directly from fecal material obtained from a South African Neoromicia capensis bat (NeoCoV). NeoCoV shared essential details of genome architecture with MERS-CoV. Eighty-five percent of the NeoCoV genome was identical to MERS-CoV at the nucleotide level. Based on taxonomic criteria, NeoCoV and MERS-CoV belonged to one viral species. The presence of a genetically divergent S1 subunit within the NeoCoV spike gene indicated that intraspike recombination events may have been involved in the emergence of MERS-CoV. NeoCoV constitutes a sister taxon of MERS-CoV, placing the MERS-CoV root between a recently described virus from African camels and all other viruses. This suggests a higher level of viral diversity in camels than in humans. Together with serologic evidence for widespread MERS-CoV infection in camelids sampled up to 20 years ago in Africa and the Arabian Peninsula, the genetic data indicate that camels act as sources of virus for humans rather than vice versa. The majority of camels on the Arabian Peninsula is imported from the Greater Horn of Africa, where several Neoromicia species occur. The acquisition of MERS-CoV by camels from bats might have taken place in sub-Saharan Africa. Camelids may represent mixing vessels for MERS-CoV and other mammalian CoVs. It is unclear how, when, and where the highly pathogenic MERS-CoV emerged. We characterized the full genome of an African bat virus closely related to MERS-CoV and show that human, camel, and bat viruses belong to the same viral species. The bat virus roots the phylogenetic tree of MERS-CoV, providing evidence for an evolution of MERS-CoV in camels that preceded that in humans. The revised tree suggests that humans are infected by camels rather than vice versa. Although

  7. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  8. Genetics Home Reference: Knobloch syndrome

    Science.gov (United States)

    ... Enable Javascript to view the expand/collapse boxes. Description Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia ). ...

  9. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  10. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  11. 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.

  12. 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.

  13. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.

    Science.gov (United States)

    Bacino, C A; Stockton, D W; Sierra, R A; Heilstedt, H A; Lewandowski, R; Van den Veyver, I B

    2000-09-11

    We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans. Copyright 2000 Wiley-Liss, Inc.

  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. 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

  16. Dressler Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan

    2016-02-01

    Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.

  17. A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.

    Science.gov (United States)

    Haltrich, Irén; Pikó, Henriett; Kiss, Eszter; Tóth, Zsuzsa; Karcagi, Veronika; Fekete, György

    2014-01-01

    Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats. Here we report on a 19 years old boy with intellectual disability having an unexpected structurally complex ring small supernumerary marker chromosome (sSMC) originated from a larger trisomy and a smaller tetrasomy of proximal 22q11 harboring additional copies of cat eye syndrome critical regions genes. PRINCIPAL CLINICAL FEATURES WERE: anorectal and urogenital malformations, total anomalous pulmonary venous return with secundum ASD, hearing defect, preauricular pits, seizure and eczema. The proband also presented some rare or so far not reported clinical findings such as hyperinsulinaemia, severe immunodeficiency and grave cognitive deficits. Chromosome analysis revealed a mosaic karyotype with the presence of a small ring-like marker in 60% of cells. Array CGH detected approximately an 1,2 Mb single and a 0,2 Mb double copy gain of the proximal long arm of chromosome 22. The 1,3 Mb intervening region of chromosome 22 from centromere to the breakpoints showed no copy alteration. The karyotype of the patient was defined as 47,XY,+mar[60]/46,XY[40].ish idic r(22)(q11.1.q11.21) × 4.arr 22q11(17,435, 645-18,656,678) × 3,(17,598,642-17,799,783) × 4 dn. The present report is the first one with a detailed description of clinical presentation in a patient carrying an atypical size ring sSMC (22) analyzed by array CGH. The specialty of the finding is emphasized by the fact that although the patient had a mosaic sSMC and the amplified region was smaller than in typical cat eye syndrome cases, the clinical presentation was severe.

  18. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

    Directory of Open Access Journals (Sweden)

    Björkhem Gudrun

    2008-01-01

    Full Text Available Abstract Background Subtelomeric regions are gene rich and deletions in these chromosomal segments have been demonstrated to account for approximately 2.5% of patients displaying mental retardation with or without association of dysmorphic features. However, cases that report de novo terminal deletions on chromosome arm 15q are rare. Methods In this study we present the first example of a detailed molecular genetic mapping of a de novo deletion in involving 15q26.2-qter, caused by the formation of a dicentric chromosome 15, using metaphase FISH and tiling resolution (32 k genome-wide array-based comparative genomic hybridization (CGH. Results After an initial characterization of the dicentric chromosome by metaphase FISH, array CGH analysis mapped the terminal deletion to encompass a 6.48 megabase (Mb region, ranging from 93.86–100.34 Mb on chromosome 15. Conclusion In conclusion, we present an additional case to the growing family of reported cases with 15q26-deletion, thoroughly characterized at the molecular cytogenetic level. In the deleted regions, four candidate genes responsible for the phenotype of the patient could be delineated: IGFR1, MEF2A, CHSY1, and TM2D3. Further characterization of additional patients harboring similar 15q-aberrations might hopefully in the future lead to the description of a clear cut clinically recognizable syndrome.

  19. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21) (p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions

    Energy Technology Data Exchange (ETDEWEB)

    Sebastio, G.; Perone, L.; Guzzetta, V. [Universita Federico II, Naples (Italy)] [and others

    1996-05-17

    We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to be trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS. 15 refs., 5 figs., 1 tab.

  20. Isolation, Characterization, and Molecular Modeling of a Rheumatoid Factor from a Hepatitis C Virus Infected Patient with Sjögren’s Syndrome

    Directory of Open Access Journals (Sweden)

    Yu-Ching Lee

    2013-01-01

    Full Text Available We have previously isolated several IgG rheumatoid factors (RFs from patients with both rheumatoid arthritis and idiopathic thrombocytopenia purpura using phage display system. To study IgG RFs in patients with other autoimmune diseases, phage display antibody libraries from a hepatitis C virus infected patient with Sjögren’s syndrome were constructed. After panning, a specific clone RFL11 was isolated for characterization in advance. The binding activity and specificity of RFL11 to IgG Fc fragment were comparable to those of RFs previously isolated. The analysis with existed RF-Fc complex structures indicated the homology model of RFL11 is similar to IgM RF61 complex with high binding affinity of about 6×10-8 M. This effect resulted from longer complementarity-determining region (CDR combining key somatic mutations. In the RFL11-Fc interfaces, the CDR-H3 loop forms a finger-like structure extending into the bottom of Fc pocket and resulting in strong ion and cation-pi interactions. Moreover, a process of antigen-driven maturation was proven by somatically mutated VH residues on H2 and H3 CDR loops in the interfaces. Taken together, these results suggested that high affinity IgG RFs can be generated in patients with Sjögren’s syndrome and may play an important role in the pathogenesis of this autoimmune disease.

  1. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

    Science.gov (United States)

    Swinkels, Mariëlle E M; Simons, Annet; Smeets, Dominique F; Vissers, Lisenka E; Veltman, Joris A; Pfundt, Rolph; de Vries, Bert B A; Faas, Brigitte H W; Schrander-Stumpel, Connie T R M; McCann, Emma; Sweeney, Elizabeth; May, Paul; Draaisma, Jos M; Knoers, Nine V; van Kessel, Ad Geurts; van Ravenswaaij-Arts, Conny M A

    2008-06-01

    The deletion 9p syndrome is caused by a constitutional monosomy of part of the short arm of chromosome 9. It is clinically characterized by dysmorphic facial features (trigonocephaly, midface hypoplasia, and long philtrum), hypotonia and mental retardation. Deletion 9p is known to be heterogeneous and exhibits variable deletion sizes. The critical region for a consensus phenotype has been reported to be located within a approximately 4-6 Mb interval on 9p22. In the present study, deletion breakpoints were determined in 13 Dutch patients by applying fluorescence in situ hybridization (FISH) and in some specific cases by array-based comparative genomic hybridization (array CGH). No clear genotype-phenotype correlation could be established for various developmental features. However, we were able to narrow down the critical region for deletion 9p syndrome to approximately 300 kb. A functional candidate gene for trigonocephaly, the CER1 gene, appeared to be located just outside this region. Sequence analysis of this gene in nine additional patients with isolated trigonocephaly did not reveal any pathogenic mutations.

  2. Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

    DEFF Research Database (Denmark)

    Ou, Jianghua; Rasmussen, Merete; Westers, Helga

    2009-01-01

    for eight of these MLH3 UVs identified in suspected Lynch syndrome patients, we performed several biochemical tests. We determined the protein expression and stability, protein localization and interaction of the mutant MLH3 proteins with wildtype MLH1. All eight MLH3 UVs gave protein expression levels...... comparable with wildtype MLH3. Furthermore, the UV-containing proteins, in contrast to previous studies, were all localized normally in the nucleus and they interacted normally with wildtype MLH1. Our different biochemical assays yielded no evidence that the eight MLH3 UVs tested are the cause of hereditary...

  3. A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family.

    Science.gov (United States)

    Shalev, Stavit A; Spiegel, Ronen; Hall, Judith G

    2005-10-15

    A large Moslem Arabic family from the North of Israel is presented in which nine individuals are affected with short stature (5th centile and below), variable pterygium of neck or short neck with limited range of motion, pterygium of elbows, short palms, and brachydactyly. Other abnormalities of the fingers include syndactyly, camptodactyly, and/or hypermobility of the small joints. The face typically appeared long and myopathic. Ptosis was present with downslanting palpebral fissures, facial movements were reduced and the midface was flat. Umbilical hernia was present together with hypoplasia of the skin in the periumbilical area. The lower body region was unaffected in this family. The family is characterized by multiple consanguineous marriages, and the pedigree is consistent with autosomal recessive inheritance. The phenotype seems to be distinct from other multiple pterygium syndromes because the lower limbs are spared, and the umbilical hernia with hypoplastic skin has not been described previously.

  4. 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.

  5. 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.

  6. 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+.

  7. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

    Science.gov (United States)

    Uusimaa, Johanna; Evans, Julie; Smith, Conrad; Butterworth, Anna; Craig, Kate; Ashley, Neil; Liao, Chunyan; Carver, Janet; Diot, Alan; Macleod, Lorna; Hargreaves, Iain; Al-Hussaini, Abdulrahman; Faqeih, Eissa; Asery, Ali; Al Balwi, Mohammed; Eyaid, Wafaa; Al-Sunaid, Areej; Kelly, Deirdre; van Mourik, Indra; Ball, Sarah; Jarvis, Joanna; Mulay, Arundhati; Hadzic, Nedim; Samyn, Marianne; Baker, Alastair; Rahman, Shamima; Stewart, Helen; Morris, Andrew AM; Seller, Anneke; Fratter, Carl; Taylor, Robert W; Poulton, Joanna

    2014-01-01

    Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK and MPV17 genes, the latter encoding a mitochondrial inner membrane protein of unknown function. The aims of this study were to clarify further the clinical, biochemical, cellular and molecular genetic features associated with MDS due to MPV17 gene mutations. We identified 12 pathogenic mutations in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. All patients manifested liver disease. Poor feeding, hypoglycaemia, raised serum lactate, hypotonia and faltering growth were common presenting features. mtDNA depletion in liver was demonstrated in all seven cases where liver tissue was available. Mosaic mtDNA depletion was found in primary fibroblasts by PicoGreen staining. These results confirm that MPV17 mutations are an important cause of hepatocerebral mtDNA depletion syndrome, and provide the first demonstration of mosaic mtDNA depletion in human MPV17 mutant fibroblast cultures. We found that a severe clinical phenotype was associated with profound tissue-specific mtDNA depletion in liver, and, in some cases, mosaic mtDNA depletion in fibroblasts. PMID:23714749

  8. Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne syndrome A (CSA) gene.

    Science.gov (United States)

    Bhatia, P K; Verhage, R A; Brouwer, J; Friedberg, E C

    1996-10-01

    Cockayne syndrome patients exhibit severe developmental and neurological abnormalities. Cells derived from these patients are sensitive to killing by UV radiation and do not support the rapid repair of the transcribed strand of transcriptionally active genes observed in cells from normal individuals. We report the cloning of the Saccharomyces cerevisiae homolog of the Cockayne syndrome A (CSA) gene, which we designate as RAD28. A rad28 null mutant does not manifest increased sensitivity to killing by UV or gamma radiation or to methyl methanesulfonate. Additionally, the rate of repair of the transcribed and nontranscribed strands of the yeast RPB2 gene in the rad28 mutant is identical to that observed in wild-type cells following exposure to UV light. As previously shown for rad7 rad26 and rad16 rad26 double mutants, the rad28 null mutant shows slightly enhanced sensitivity to UV light in the presence of mutations in the RAD7 or RAD16 gene. Both rad28 and rad26 null mutants are hypermutable following exposure to UV light.

  9. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

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

  10. Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

    Directory of Open Access Journals (Sweden)

    Kimie Matsunaga

    Full Text Available BACKGROUND: Wolfram syndrome (WFS is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1. However, the phenotypic pleiomorphism, rarity and molecular complexity of this disease complicate our efforts to understand WFS. To address this limitation, we aimed to describe complications and to elucidate the contributions of WFS1 mutations to clinical manifestations in Japanese patients with WFS. METHODOLOGY: The minimal ascertainment criterion for diagnosing WFS was having both early onset diabetes mellitus and bilateral optic atrophy. Genetic analysis for WFS1 was performed by direct sequencing. PRINCIPAL FINDINGS: Sixty-seven patients were identified nationally for a prevalence of one per 710,000, with 33 patients (49% having all 4 components of DIDMOAD. In 40 subjects who agreed to participate in this investigation from 30 unrelated families, the earliest manifestation was DM at a median age of 8.7 years, followed by OA at a median age of 15.8 years. However, either OA or DI was the first diagnosed feature in 6 subjects. In 10, features other than DM predated OA. Twenty-seven patients (67.5% had a broad spectrum of recessive mutations in WFS1. Two patients had mutations in only one allele. Eleven patients (27.5% had intact WFS1 alleles. Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutations. In the patients with predicted complete loss-of-function mutations, ages at the onsets of both DM and OA were significantly earlier than those in patients with predicted partial-loss-of function mutations. CONCLUSION/SIGNIFICANCE: This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may

  11. Molecular characterization of porcine circovirus 2 isolated from diseased pigs co-infected with porcine reproductive and respiratory syndrome virus

    Directory of Open Access Journals (Sweden)

    Liu Chengqian

    2010-10-01

    Full Text Available Abstract In this study, we isolated a porcine circovirus 2 (PCV2 strain from piglets co-infected with porcine reproductive and respiratory syndrome virus (PRRSV. The complete genome of this strain was sequenced, phylogenetic and polymorphic analyses were carried out. BLAST searches revealed the highest sequence identity (99.5% nt and 99.3% aa to Guangxi strain EF675230. The phylogenetic tree showed that clustering of the isolates didn't strongly correlate to geographical distribution. Polymorphic analyses demonstrated that the amino acids at most of the polymorphic sites in Open Reading Frame 1(ORF1 and 2 (ORF2belong to the same amino acid group according to chemical or structural properties, and revealed that highly polymorphic regions overlapped with the known immunoreactive epitopes of ORF2.

  12. Structural characterization of Campylobacter jejuni lipooligosaccharide outer cores associated with Guillain-Barre and Miller Fisher syndromes.

    Science.gov (United States)

    Godschalk, Peggy C R; Kuijf, Mark L; Li, Jianjun; St Michael, Frank; Ang, C Wim; Jacobs, Bart C; Karwaski, Marie-France; Brochu, Denis; Moterassed, Ali; Endtz, Hubert P; van Belkum, Alex; Gilbert, Michel

    2007-03-01

    Molecular mimicry between lipooligosaccharides (LOS) of Campylobacter jejuni and gangliosides in peripheral nerves plays a crucial role in the pathogenesis of C. jejuni-related Guillain-Barré syndrome (GBS). We have analyzed the LOS outer core structures of 26 C. jejuni strains associated with GBS and its variant, Miller Fisher syndrome (MFS), by capillary electrophoresis coupled with electrospray ionization mass spectrometry. Sixteen out of 22 (73%) GBS-associated and all 4 (100%) MFS-associated strains expressed LOS with ganglioside mimics. GM1a was the most prevalent ganglioside mimic in GBS-associated strains (10/22, 45%), and in eight of these strains, GM1a was found in combination with GD1a mimics. All seven strains isolated from patients with ophthalmoplegia (GBS or MFS) expressed disialylated (GD3 or GD1c) mimics. Three out of 22 GBS-associated strains (14%) did not express sialylated ganglioside mimics because their LOS locus lacked the genes necessary for sialylation. Three other strains (14%) did not express ganglioside mimics because of frameshift mutations in either the cstII sialyltransferase gene or the cgtB galactosyltransferase gene. It is not possible to determine if these mutations were already present during C. jejuni infection. This is the first report in which mass spectrometry combined with DNA sequence data were used to infer the LOS outer core structures of a large number of neuropathy-associated C. jejuni strains. We conclude that molecular mimicry between gangliosides and C. jejuni LOS is the presumable pathogenic mechanism in most cases of C. jejuni-related GBS. However, our findings suggest that in some cases, other mechanisms may play a role. Further examination of the disease etiology in these patients is mandatory.

  13. First characterization of bacterial pathogen, Vibrio alginolyticus, for Porites andrewsi White syndrome in the South China Sea.

    Directory of Open Access Journals (Sweden)

    Xie Zhenyu

    Full Text Available BACKGROUND: White syndrome, a term for scleractinian coral disease with progressive tissue loss, is known to cause depressed growth and increased morality of coral reefs in the major oceans around the world, and the occurrence of this disease has been frequently reported in the past few decades. Investigations during April to September in both 2010 and 2011 identified widespread Porites andrewsi White syndrome (PAWS in Xisha Archipelago, South China Sea. However, the causes and etiology of PAWS have been unknown. METHODOLOGY/PRINCIPAL FINDINGS: A transmission experiment was performed on P. andrewsi in the Qilianyu Subgroup (QLY. The results showed that there was a significant (P ≤ 0.05 difference between test and control groups after 28 days if the invalid replicates were excluded. Rates of tissue loss ranged from 0.90-10.76 cm(2 d(-1 with a mean of 5.40 ± 3.34 cm(2 d(-1 (mean ± SD. Bacterial strains were isolated from the PAWS corals at the disease outbreak sites in QLY of the Xisha Archipelago, South China Sea, and included in laboratory-based infection trials to satisfy Koch's postulates for establishing causality. Following exposure to bacterial concentrations of 10(5 cells mL(-1, the infected colonies exhibited similar signs to those observed in the field. Using phylogenetic 16S rRNA gene analysis, classical phenotypic trait comparison, Biolog automatic identification system, MALDI-TOF mass spectrometry and MALDI Biotyper method, two pathogenic strains were identified as Vibrio alginolyticus . CONCLUSION/SIGNIFICANCE: This is the first report of V. alginolyticus as a pathogenic agent of PAWS in the South China Sea. Our results point out an urgent need to develop sensitive detection methods for V. alginolyticus virulence strains and robust diagnostics for coral disease caused by this and Vibrio pathogenic bacterium in the South China Sea.

  14. First characterization of bacterial pathogen, Vibrio alginolyticus, for Porites andrewsi White syndrome in the South China Sea.

    Science.gov (United States)

    Zhenyu, Xie; Shaowen, Ke; Chaoqun, Hu; Zhixiong, Zhu; Shifeng, Wang; Yongcan, Zhou

    2013-01-01

    White syndrome, a term for scleractinian coral disease with progressive tissue loss, is known to cause depressed growth and increased morality of coral reefs in the major oceans around the world, and the occurrence of this disease has been frequently reported in the past few decades. Investigations during April to September in both 2010 and 2011 identified widespread Porites andrewsi White syndrome (PAWS) in Xisha Archipelago, South China Sea. However, the causes and etiology of PAWS have been unknown. A transmission experiment was performed on P. andrewsi in the Qilianyu Subgroup (QLY). The results showed that there was a significant (P ≤ 0.05) difference between test and control groups after 28 days if the invalid replicates were excluded. Rates of tissue loss ranged from 0.90-10.76 cm(2) d(-1) with a mean of 5.40 ± 3.34 cm(2) d(-1) (mean ± SD). Bacterial strains were isolated from the PAWS corals at the disease outbreak sites in QLY of the Xisha Archipelago, South China Sea, and included in laboratory-based infection trials to satisfy Koch's postulates for establishing causality. Following exposure to bacterial concentrations of 10(5) cells mL(-1), the infected colonies exhibited similar signs to those observed in the field. Using phylogenetic 16S rRNA gene analysis, classical phenotypic trait comparison, Biolog automatic identification system, MALDI-TOF mass spectrometry and MALDI Biotyper method, two pathogenic strains were identified as Vibrio alginolyticus . This is the first report of V. alginolyticus as a pathogenic agent of PAWS in the South China Sea. Our results point out an urgent need to develop sensitive detection methods for V. alginolyticus virulence strains and robust diagnostics for coral disease caused by this and Vibrio pathogenic bacterium in the South China Sea.

  15. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

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

    2016-01-01

    Ehlers-Danlos syndrome 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...

  16. Apert′s syndrome

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Amiya

    2004-03-01

    Full Text Available Apert′s syndrome (acrocephalosyndactyly is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly. We present a 2-month-old girl having features of Apert′s syndrome, with cerebral cortical atrophy and bifurcation of the right first metatarsal base, a hitherto undescribed finding.

  17. Apert's syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Tarun Kumar

    2016-01-01

    Full Text Available Apert's syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. The purpose of this report is to present an Apert's syndrome patient by highlighting the craniofacial characteristics and oral health care measures for these patients.

  18. 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.

  19. Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

    NARCIS (Netherlands)

    X. Yu (Xiaomin); J.R. Almeida (Jorge); S. Darko (Sam); M. van der Burg (Mirjam); S.S. Deravin (Suk See); H. Malech (Harry); A.R. Gennery (Andrew); I. Chinn (Ivan); M.L. Markert (Mary Louise); D.C. Douek (Daniel ); J.D. Milner (Joshua)

    2014-01-01

    textabstractBackground Human immunodeficiencies characterized by hypomorphic mutations in critical developmental and signaling pathway genes allow for the dissection of the role of these genes in the development of the T-cell receptor (TCR) repertoire and the correlation of alterations of the TCR

  20. Chronic fatigue syndrome

    National Research Council Canada - National Science Library

    Gonthier, Ariane; Favrat, Bernard

    2015-01-01

    Chronic fatigue syndrome (CFS) is a debilitating disorder, characterized by a severe, persistant and unexplained fatigue, which can be associated with diffuse pain, sleep difficulties, neurocognitive and neurovegetative troubles...

  1. 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...

  2. 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...

  3. 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

  4. Frailty syndrome: an overview

    National Research Council Canada - National Science Library

    Chen, Xujiao; Mao, Genxiang; Leng, Sean X

    2014-01-01

    Frailty is a common and important geriatric syndrome characterized by age-associated declines in physiologic reserve and function across multiorgan systems, leading to increased vulnerability for adverse health outcomes...

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

    Science.gov (United States)

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

    2015-05-01

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

  6. Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report

    Directory of Open Access Journals (Sweden)

    Choi Sung-Kyu

    2005-07-01

    Full Text Available Abstract Background Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal involvement is rare, but the risk of malignancy development is considerable. Zollinger-Ellison syndrome is caused by gastrin-secreting tumors called gastrinomas. Correct diagnosis is often difficult, and curative treatment can only be achieved surgically. Case presentation A 41-year-old female affected by neurofibromatosis type 1 presented with a history of recurrent epigastric soreness, diarrhea, and relapsing chronic duodenal ulcer. Her serum fasting gastrin level was over 1000 pg/mL. An abdominal CT scan revealed a 3 × 2-cm, well-enhanced mass adjacent to the duodenal loop. She was not associated with multiple endocrine neoplasia type 1. Operative resection was performed and gastrinoma was diagnosed by immunohistochemical staining. The serum gastrin level decreased to 99.1 pg/mL after surgery, and symptoms and endoscopic findings completely resolved without recurrences. Conclusion Gastrinoma is difficult to detect even in the general population, and hence symptoms such as recurrent idiopathic peptic ulcer and diarrhea in neurofibromatosis type 1 patients should be accounted for as possibly contributing to Zollinger-Ellison syndrome.

  7. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...

  8. Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans

    Science.gov (United States)

    Chertemps, Thomas; Montagné, Nicolas; Bozzolan, Françoise; Maria, Annick; Durand, Nicolas; Maïbèche-Coisne, Martine

    2012-07-01

    Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as "maspardin." Maspardin presents similarity to the α/β-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein-protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog ( SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous "nonmammalian" species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.

  9. ISOLATION OF EGG DROP SYNDROME VIRUS AND ITS MOLECULAR CHARACTERIZATION USING SODIUM DODECYL SULPHATE POLYACRYLAMIDE GEL ELECTROPHORESIS

    Directory of Open Access Journals (Sweden)

    M. H. Rasool, S. U. Rahman and M. K. Mansoor

    2005-10-01

    Full Text Available Six isolates of egg drop syndrome (EDS virus were recovered from five different outbreaks of EDS in commercial laying hens in and around Faisalabad. The aberrant eggs were fed to the susceptible laying hens for experimental induction of infection. The samples from infected birds (egg washing, cloacal swabs, oviducts and spleens were collected, processed and inoculated into 11-day old duck embryos. The presence of virus in harvested allanto-amniotic fluid was monitored by spot and microhaemagglutination tests and confirmed by haemagglutination inhibition and agar gel precipitation tests. The EDS virus grew well in duck embryos and agglutinated only avian but not mammalian red blood cells. These isolates were purified through velocity density gradient centrifugation. Protein concentration was determined through Lowry method and sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE was conducted by loading 300 µg protein concentration on 12.5% gel using discontinuous buffer system. All the six isolates showed 13 polypeptides, which were identical to those described in the referral EDS-76 virus (strain-127. The molecular weights of the polypeptides ranged from 6.5 KDa to 126 KDa.

  10. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael; Jeppesen, Jørgen; Larsen, Mogens

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun-15...

  11. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

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

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun...

  12. Poland syndrome with absent ribs

    Directory of Open Access Journals (Sweden)

    Rupam Kumar Ta

    2014-01-01

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

  13. 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.

  14. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    M K Sunil

    2010-01-01

    Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

  15. Genetics Home Reference: thrombocytopenia-absent radius syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions TAR syndrome Thrombocytopenia-absent radius syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Thrombocytopenia-absent radius (TAR) syndrome is characterized by the ...

  16. Genetics Home Reference: thiamine-responsive megaloblastic anemia syndrome

    Science.gov (United States)

    ... Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia syndrome Printable PDF Open All Close All Enable ... the expand/collapse boxes. Description Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing ...

  17. Genetics Home Reference: hyperparathyroidism-jaw tumor syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism-jaw tumor syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Hyperparathyroidism-jaw tumor syndrome is a condition characterized by ...

  18. Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.

    Science.gov (United States)

    Wu, Zhi-Juan; Huang, Yun; Fu, Yi-Cheng; Zhao, Xiao-Jing; Zhu, Chao; Zhang, Yu; Xu, Bin; Zhu, Qing-Lei; Li, Yang

    2015-07-01

    To evaluate the association between a KCNQ1 mutation, R259H, and short QT syndrome (SQTS) and to explore the electrophysiological mechanisms underlying their association. We performed genetic screening of SQTS genes in 25 probands and their family members (63 patients). We used direct sequencing to screen the exons and intron-exon boundaries of candidate genes that encode ion channels which contribute to the repolarization of the ventricular action potential, including KCNQ1, KCNH2, KCNE1, KCNE2, KCNJ2, CACNA1c, CACNB2b and CACNA2D1. In one of the 25 SQTS probands screened, we discovered a KCNQ1 mutation, R259H. We cloned R259H and transiently expressed it in HEK-293 cells; then, currents were recorded using whole cell patch clamp techniques. R259H-KCNQ1 showed significantly increased current density, which was approximately 3-fold larger than that of wild type (WT) after a depolarizing pulse at 1 s. The steady state voltage dependence of the activation and inactivation did not show significant differences between the WT and R259H mutation (P > 0.05), whereas the time constant of deactivation was markedly prolonged in the mutant compared with the WT in terms of the test potentials, which indicated that the deactivation of R259H was markedly slower than that of the WT. These results suggested that the R259H mutation can effectively increase the slowly activated delayed rectifier potassium current (I Ks) in phase 3 of the cardiac action potential, which may be an infrequent cause of QT interval shortening. R259H is a gain-of-function mutation of the KCNQ1 channel that is responsible for SQTS2. This is the first time that the R259H mutation was detected in Chinese people.

  19. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  20. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  1. 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......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...... strong insights into the link between mitochondrial dysfunction and the production of reactive oxygen species (ROS). An important tool has been the generation of BTHS-specific induced pluripotent stem cells (iPSCs) from BTHS patients. In a complementary approach, disease-specific mutations have been...

  2. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  3. 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.

  4. Compartment syndromes

    Directory of Open Access Journals (Sweden)

    Aly Saber

    2014-01-01

    Full Text Available 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 this compartment 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, they are 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.

  5. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

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

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...

  6. Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach.

    Science.gov (United States)

    Tabassum, Asra; Rajeshwari, Tadigadapa; Soni, Nidhi; Raju, D S B; Yadav, Mukesh; Nayarisseri, Anuraj; Jahan, Parveen

    2014-03-01

    Non-synonymous single nucleotide changes (nSNC) are coding variants that introduce amino acid changes in their corresponding proteins. They can affect protein function; they are believed to have the largest impact on human health compared with SNCs in other regions of the genome. Such a sequence alteration directly affects their structural stability through conformational changes. Presence of these conformational changes near catalytic site or active site may alter protein function and as a consequence receptor-ligand complex interactions. The present investigation includes assessment of human podocin mutations (G92C, P118L, R138Q, and D160G) on its structure. Podocin is an important glomerular integral membrane protein thought to play a key role in steroid resistant nephrotic syndrome. Podocin has a hairpin like structure with 383 amino acids, it is an integral protein homologous to stomatin, and acts as a molecular link in a stretch-sensitive system. We modeled 3D structure of podocin by means of Modeller and validated via PROCHECK to get a Ramachandran plot (88.5% in most favored region), main chain, side chain, bad contacts, gauche and pooled standard deviation. Further, a protein engineering tool Triton was used to induce mutagenesis corresponding to four variants G92C, P118L, R138Q and D160G in the wild type. Perusal of energies of wild and mutated type of podocin structures confirmed that mutated structures were thermodynamically more stable than wild type and therefore biological events favored synthesis of mutated forms of podocin than wild type. As a conclusive part, two mutations G92C (-8179.272 kJ/mol) and P118L (-8136.685 kJ/mol) are more stable and probable to take place in podocin structure over wild podocin structure (-8105.622 kJ/mol). Though there is lesser difference in mutated and wild type (approximately, 74 and 35 kJ/mol), it may play a crucial role in deciding why mutations are favored and occur at the genetic level.

  7. MR Image Analytics to Characterize the Upper Airway Structure in Obese Children with Obstructive Sleep Apnea Syndrome.

    Science.gov (United States)

    Tong, Yubing; Udupa, Jayaram K; Sin, Sanghun; Liu, Zhengbing; Wileyto, E Paul; Torigian, Drew A; Arens, Raanan

    2016-01-01

    Quantitative image analysis in previous research in obstructive sleep apnea syndrome (OSAS) has focused on the upper airway or several objects in its immediate vicinity and measures of object size. In this paper, we take a more general approach of considering all major objects in the upper airway region and measures pertaining to their individual morphological properties, their tissue characteristics revealed by image intensities, and the 3D architecture of the object assembly. We propose a novel methodology to select a small set of salient features from this large collection of measures and demonstrate the ability of these features to discriminate with very high prediction accuracy between obese OSAS and obese non-OSAS groups. Thirty children were involved in this study with 15 in the obese OSAS group with an apnea-hypopnea index (AHI) = 14.4 ± 10.7) and 15 in the obese non-OSAS group with an AHI = 1.0 ± 1.0 (pmeasurements were derived from each subject image which included object size, surface area, volume, sphericity, standardized T2-weighted image intensity value, and inter-object distances. A small set of discriminating features was identified from this set in several steps. First, a subset of measures that have a low level of correlation among the measures was determined. A heat map visualization technique that allows grouping of parameters based on correlations among them was used for this purpose. Then, through T-tests, another subset of measures which are capable of separating the two groups was identified. The intersection of these subsets yielded the final feature set. The accuracy of these features to perform classification of unseen images into the two patient groups was tested by using logistic regression and multi-fold cross validation. A set of 16 features identified with low inter-feature correlation (skin object. The study has found several new anatomic bio-markers of OSAS. Changes in standardized T2-weighted image intensities in objects may

  8. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

    Science.gov (United States)

    O'Keefe, Joan A; Robertson-Dick, Erin; Dunn, Emily J; Li, Yan; Deng, Youping; Fiutko, Amber N; Berry-Kravis, Elizabeth; Hall, Deborah A

    2015-12-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a "premutation" size 55-200 CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Core motor features include cerebellar gait ataxia and kinetic tremor, resulting in progressive mobility disability. There are no published studies characterizing balance deficits in FMR1 premutation carriers with and without FXTAS using a battery of quantitative measures to test the sensory integration underlying postural control, automatic postural reflexes, and dynamic postural stability limits. Computerized dynamic posturography (CDP) and two performance-based balance measures were administered in 44 premutation carriers, 21 with FXTAS and 23 without FXTAS, and 42 healthy controls to compare balance and functional mobility between these groups. Relationships between FMR1 molecular variables, age, and sex and CDP scores were explored. FXTAS subjects demonstrated significantly lower scores on the sensory organization test (with greatest reductions in the vestibular control of balance), longer response latencies to balance perturbations, and reduced stability limits compared to controls. Premutation carriers without FXTAS also demonstrated significantly delayed response latencies and disrupted sensory weighting for balance control. Advancing age, male sex, increased CGG repeat size, and reduced X activation of the normal allele in premutation carrier women predicted balance dysfunction. These postural control deficits in carriers with and without FXTAS implicate dysfunctional cerebellar neural networks and may provide valuable outcome markers for tailored rehabilitative interventions. Our findings suggest that CDP may provide sensitive measures for early detection of postural control impairments in at-risk carriers and better characterize balance dysfunction and progression in FXTAS.

  9. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.

    Science.gov (United States)

    Chen, Chih-Ping; Ko, Tsang-Ming; Chen, Yi-Yung; Su, Jun-Wei; Wang, Wayseen

    2013-09-15

    We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). Copyright © 2013 Elsevier B.V. All rights reserved.

  10. Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

    Science.gov (United States)

    Fattahi, Zohreh; Rostami, Parvin; Najmabadi, Amin; Mohseni, Marzieh; Kahrizi, Kimia; Akbari, Mohammad Reza; Kariminejad, Ariana; Najmabadi, Hossein

    2014-07-01

    Bardet-Biedl syndrome (BBS) is a rare ciliopathy disorder that is clinically and genetically heterogeneous with 18 known genes. This study was performed to characterize responsible genes and mutation spectrum in a cohort of 14 Iranian families with BBS. Sanger sequencing of the most commonly mutated genes (BBS1, BBS2 and BBS10) accounting for ∼50% of BBS patients determined mutations only in BBS2, including three novel mutations. Next, three of the remaining patients were subjected to whole exome sequencing with 96% at 20 × depth of coverage that revealed novel BBS4 mutation. Observation of no mutation in the other patients represents the possible presence of novel genes. Screening of the remaining patients for six other genes (BBS3, BBS4, BBS6, BBS7, BBS9 and BBS12) revealed five novel mutations. This result represents another indication for the genetic heterogeneity of BBS and extends the mutational spectrum of the disease by introducing nine novel mutations in five BBS genes. In conclusion, although BBS1 and BBS10 are among the most commonly mutated genes in other populations like Caucasian, these two seem not to have an important role in Iranian patients. This suggests that a different strategy in molecular genetics diagnostic approaches in Middle Eastern countries such as Iran should be considered.

  11. The use of magnetic resonance imaging to characterize abnormal body composition phenotypes in youth with Prader-Willi syndrome.

    Science.gov (United States)

    Orsso, Camila E; Mackenzie, Michelle; Alberga, Angela S; Sharma, Arya M; Richer, Lawrence; Rubin, Daniela A; Prado, Carla M; Haqq, Andrea M

    2017-04-01

    Magnetic resonance imaging (MRI) provides detailed assessment of body composition compartments. No studies have employed state-of-the-art MRI methods to accurately examine abdominal adipose tissue (AT) and skeletal muscle in youth with Prader-Willi syndrome (PWS). Therefore, this study aimed to describe AT distribution and skeletal muscle in the abdominal region of youth with PWS using MRI. Anthropometric measures and whole-abdominal T1-weighted MRI were performed in sixteen (5 males and 11 females) youth diagnosed with PWS, and seventeen (10 males and 7 females) youth who did not have PWS (controls). Volume of subcutaneous, visceral, intermuscular, and total AT, and skeletal muscle in the abdominal region were quantified using a semiautomatic procedure. Results were summarized using median and interquartile range (IQR, 25th-75th), and ANCOVA test was used (with age and sex as covariates) to examine differences in body composition compartments between PWS and control group. PWS group had similar age (10.5, 6.6-13.9 vs. 12.8, 10.0-14.4years; P=0.14) and BMI z-score (0.5, 0.2-1.3 vs. 0.2, -0.3 to 1.0; P=0.33) when compared with controls. Significant differences were observed in absolute volumes of total AT (PWS: 4.1, 2.0-6.6L; control: 2.9, 2.0-4.5L; P=0.01), subcutaneous AT (PWS: 2.8, 1.4-4.8L; control: 1.8, 1.1-3.2L; P=0.01), and intermuscular AT (PWS: 0.3, 0.1-0.4L; control: 0.3, 0.2-0.3L; P<0.005). Visceral AT/subcutaneous AT was lower in PWS (0.4, 0.3-0.5) compared to controls (0.5, 0.4-0.6), P=0.01. In addition, skeletal muscle volume was lower in PWS (1.5, 1.0-2.6L) compared to controls (3.1, 1.6-3.9L), P=0.03. Ratios of abdominal AT compartments to skeletal muscle were all higher in PWS compared to controls (all P<0.005). PWS youth have greater abdominal adiposity, particularly subcutaneous AT and intermuscular AT, and lower volume of skeletal muscle compared to controls. The decreased ratio of visceral AT/subcutaneous AT in youth with PWS suggests an

  12. MR Image Analytics to Characterize the Upper Airway Structure in Obese Children with Obstructive Sleep Apnea Syndrome.

    Directory of Open Access Journals (Sweden)

    Yubing Tong

    Full Text Available Quantitative image analysis in previous research in obstructive sleep apnea syndrome (OSAS has focused on the upper airway or several objects in its immediate vicinity and measures of object size. In this paper, we take a more general approach of considering all major objects in the upper airway region and measures pertaining to their individual morphological properties, their tissue characteristics revealed by image intensities, and the 3D architecture of the object assembly. We propose a novel methodology to select a small set of salient features from this large collection of measures and demonstrate the ability of these features to discriminate with very high prediction accuracy between obese OSAS and obese non-OSAS groups.Thirty children were involved in this study with 15 in the obese OSAS group with an apnea-hypopnea index (AHI = 14.4 ± 10.7 and 15 in the obese non-OSAS group with an AHI = 1.0 ± 1.0 (p<0.001. Subjects were between 8-17 years and underwent T1- and T2-weighted magnetic resonance imaging (MRI of the upper airway during wakefulness. Fourteen objects in the vicinity of the upper airways were segmented in these images and a total of 159 measurements were derived from each subject image which included object size, surface area, volume, sphericity, standardized T2-weighted image intensity value, and inter-object distances. A small set of discriminating features was identified from this set in several steps. First, a subset of measures that have a low level of correlation among the measures was determined. A heat map visualization technique that allows grouping of parameters based on correlations among them was used for this purpose. Then, through T-tests, another subset of measures which are capable of separating the two groups was identified. The intersection of these subsets yielded the final feature set. The accuracy of these features to perform classification of unseen images into the two patient groups was tested by using

  13. Educational Considerations for Children with Tourette's Syndrome.

    Science.gov (United States)

    Jones, Kevin; Johnson, Genevieve Marie

    1992-01-01

    This article provides an introduction to Tourette's Syndrome, an inherited neurological disorder characterized by motor and vocal tics. Considered are prevalence of the syndrome, common characteristics, instructional strategies, and the critical role of the teacher. (Author/DB)

  14. Arterial thrombosis in the antiphospholipid syndrome

    NARCIS (Netherlands)

    Urbanus, R.T|info:eu-repo/dai/nl/304818402

    2008-01-01

    The antiphospholipid syndrome (APS) is a non-inflammatory autoimmune disease that mainly affects young women. The syndrome is characterized by recurrent thrombosis or pregnancy morbidity in association with the persistent serological presence of antiphospholipid antibodies. Antiphospholipid

  15. Genes and Disease: Prader-Willi Syndrome

    Science.gov (United States)

    ... Biotechnology Information (US). Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Contents Search term Prader-Willi syndrome Prader-Willi syndrome (PWS) is an uncommon genetic disorder characterized by mental retardation, decreased muscle tone, ...

  16. Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Reish, O.; Berry, S.A.; Hirsch, B. [Univ. of Minnesota, Minneapolis, MN (United States)

    1995-12-04

    We describe 5 patients ranging in age from 3 to 47 years, with karyotypic abnormalities resulting in monosomy for portion of 1p36.3, microcephaly, mental retardation, prominent forehead, deep-set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. Four patients have small hands and feet. All exhibited selfabusive behavior. Additional findings in some of the patients include brain anomalies, optic atrophy, hearing loss and skeletal deformities. The breakpoints within chromosome 1 were designated at 1p36.31 (3 cases), 1p36.32 (1 case) and 1p36.33 (1 case). Thus, the smallest region of deletion overlap is 1p36.33{r_arrow}pter. Detection of the abnormal 1 relied on high resolution G-band analysis. Fluorescence in situ hybridization (FISH) utilizing a DNA probe (Oncor D1Z2) containing the repetitive sequences in distal 1p36, confirmed a deletion of one 1 homologue in all 5 cases. The abnormal 1 resulted from a de novo deletion in only one patient. The remaining patients were either confirmed (3 cases) or suspected (1 case) to have unbalanced translocations. Despite the additional genetic imbalance present in these four cases, monosomy of 1p36.33 appears to be responsible for a specific clinical phenotype. Characterization of this phenotype should assist in the clinical diagnosis of this chromosome abnormality. 26 refs., 4 figs., 2 tabs.

  17. [Acute catatonic syndrome after neuroleptic malignant syndrome].

    Science.gov (United States)

    Benjelloun, G; Jehel, L; Abgrall, G; Pelissolo, A; Allilaire, Jf

    2005-01-01

    We report the case of a young woman who deve-loped catatonic syndrome a few days after neuroleptic mali-gnant syndrome (NMS), arising the problem of the chronology of both affections. A 20-year old woman with an history of bipolar disorder, experienced an acute manic syndrome that made hospitalization necessary. Fourteen days after loxa-pine prescription, the patient developed a NMS (DSM IV criteria) dyskinesia, dysphagia, fever and alteration of cons-ciousness. Hepatic transaminases and muscular enzymes increased. Neuroleptic was immediately interrupted and benzodiazepines (Lorazepam) was started. Biological parameters were normalized after 7 days, hyperpyrexia decreased and extrapyramidal symptoms disappeared but manic symptoms persisted. Two weeks later, the patient presented nega-tivism, rigidity of the four limb, catalepsia and hyperpyrexia. She also had been anxious for death and presented auditory hallucinations. Bacteriological samples and computed tomography were normal. This catatonic symptoms did not decreased and electroconvulsive therapy (ECT) was necessary. After six ECT, she started standing up, walking, taking food and speaking. After 12 ECT, the clinical state was the same as it was before the acute episod. The patient was then treated with valproate and lorazepam for anxiety symptoms. Acute catatonie, a rare and life-threatening acute syndrome was described in psychosis before the advent of neuroleptic drugs. It's characterized by hyperexia, stupor alternated with exctement, rigidity. Many etiolologic factors have been reported for this affection: psychogenic, organic or toxic. Neuroletic malignant syndrome is a potentially fatal complication of neuroleptic treatment occuring in about 1% of patients treated with neuroleptic. This syndrome is characterised by consciousness alteration, extrapyramidal symptoms, autonomic and thermic disorders. Similar clinical and biological features in catatonia and neuroleptic malignant syndrome (NMS) suggest a

  18. Characterization of matrix metalloproteinase (MMP-8 and -9) activities in the saliva and in gingival crevicular fluid of children with Down's syndrome.

    Science.gov (United States)

    Halinen, S; Sorsa, T; Ding, Y; Ingman, T; Salo, T; Konttinen, Y T; Saari, H

    1996-08-01

    Previous studies have shown increased susceptibility to periodontal diseases in children with Down's syndrome (DS). The mechanisms involved in the periodontal inflammatory processes in DS are not fully understood. The present study characterized the periodontal status of 9 non-institutionalized DS children 9 to 17 years old (mean 13.6 years) relative to their age-matched systemically and periodontally healthy controls. The periodontal status was assessed by visible plaque index (VPI), gingival bleeding index (GBI), and probing depth. We also assessed, by sodium dodecyl sulphate polyacrylamide gel electrophoresis/laser densitometry and by zymography, the collagenase and gelatinase activities in the gingival crevicular fluid (GCF) and saliva samples collected from DS patients and from the controls. Eight of the nine DS children showed a periodontium comparable to that seen in healthy controls; beginning alveolar bone loss was radiographically seen in the DS patient with deep periodontal pockets. The endogenously active collagenase and total collagenase activities were slightly higher in GCF of DS children compared to healthy controls. Western blot demonstrated that GCF collagenase of DS patients was human neutrophil collagenase (MMP-8 or collagenase-2), which occurred in 75 kDa proMMP-8 and in DS patients, but not in controls, also in 65 kDa active MMP-8 form and occasionally lower 40-50 kDa MMP-8 species. Zymographic analysis revealed the presence of 120 kDa (MMP-9 complexed with neutrophil gelatinase associated lipocalin or NGAL), 92 kDa (MMP-9) and 72 kDa (MMP-2) gelatinases in DS and control GCF. Especially in DS GCF MMP-9 occurred in part in 82-85 kDa activated form. Salivary collagenase in DS was high when compared to controls but of the same MMP-8 type as in control saliva. Our findings suggest that in vivo activated MMP-8 in GCF derived from triggered PMNs and/or cytokine-induced periodontal fibroblasts may reflect periodontal tissue and alveolar bone

  19. Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

    Science.gov (United States)

    Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

    2015-05-07

    Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

  20. Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

    Science.gov (United States)

    Salomon, Julie; Goulet, Olivier; Canioni, Danielle; Brousse, Nicole; Lemale, Julie; Tounian, Patrick; Coulomb, Aurore; Marinier, Evelyne; Hugot, Jean-Pierre; Ruemmele, Frank; Dufier, Jean-Louis; Roche, Olivier; Bodemer, Christine; Colomb, Virginie; Talbotec, Cécile; Lacaille, Florence; Campeotto, Florence; Cerf-Bensussan, Nadine; Janecke, Andreas R; Mueller, Thomas; Koletzko, Sibylle; Bonnefont, Jean-Paul; Lyonnet, Stanislas; Munnich, Arnold; Poirier, Françoise; Smahi, Asma

    2014-03-01

    Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion criteria were early onset diarrhea and intestinal insufficiency with the typical histological CTE abnormalities. The clinical phenotype was registered, the entire coding regions of epcam and SPINT2 sequenced, and immunostaining of EpCAM and SPINT2 performed on intestinal biopsies. An epcam mutation was involved in 41 patients (73 %) who mainly displayed isolated digestive symptoms. Mutations severely affected gene expression since the EpCAM signal on intestinal tissues was either undetectable or low and irregular. Twelve other patients (21 %) carried mutations in SPINT2, and were phenotypically characterized by systematic association with keratitis (p G (abnormal splicing) was significantly associated with a better outcome (p = 0.032) with milder PN dependency to weaning in some cases. Finally, four patients (7 %) with isolated digestive symptoms had no detectable epcam or SPINT2 mutation. Two candidate genes, Elf3 and Claudin7, were excluded from this population. Our study allows us to separate CTE patients into at least three genetic classes, each with specific phenotypes. The genetics approach raises the question of the distinction between two congenital enteropathies. Our findings should help improve the diagnosis of CTE, guide toward strategies of long-term PN management, and limit indications for intestinal transplantation to life-threatening PN complications.

  1. Chromosome 11q13 deletion syndrome

    OpenAIRE

    Kim, Yu-Seon; Kim, Gun-Ha; Byeon, Jung Hye; Eun, So-Hee; Eun, Baik-Lin

    2016-01-01

    Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the ...

  2. SUSAC SYNDROME.

    Science.gov (United States)

    Patel, Kevin H; Haug, Sara J; Imes, Richard K; Cunningham, Emmett T; McDonald, H Richard

    2015-01-01

    To describe an atypical presentation of Susac syndrome. Observational case report. A 44-year-old man with no significant medical history presented with inferonasal visual field loss in his left eye of several months of duration. He was found to have bilateral migratory arteritis with focal areas of arteriolar occlusion in both eyes and peripheral ischemia superotemporally in his left eye. An extensive hematologic workup was negative for autoimmune disease or coagulopathy. Magnetic resonance imaging with contrast of his brain revealed a hyperintense lesion in the splenium of the corpus callosum. Auditory testing was significant for nonspecific high-frequency hearing loss in the right ear. Given the full clinical picture, a diagnosis of Susac syndrome was made. Susac syndrome is a multisystemic, immune-mediated occlusive endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. However, patients may present with varying degrees of this triad; thus, there should be a high index of suspicion in patients presenting with multiple artery occlusions or multifocal arteritis. (C) 2015 by Ophthalmic Communications Society, Inc.

  3. Caracterização tecidual ultra-sônica em síndromes coronarianas agudas Ultrasonic tissue characterization in acute coronary syndromes

    Directory of Open Access Journals (Sweden)

    Antonio Pazin-Filho

    2007-08-01

    Full Text Available FUNDAMENTO: A caracterização tecidual ultra-sônica (CTU, avaliada pelo integrated backscatter, tem o potencial de detectar precocemente alterações estruturais no tecido miocárdico. Nas síndromes coronarianas agudas (SCA esta técnica tem atraído atenção pelo potencial de detectar viabilidade miocárdica. OBJETIVO: Analisar o potencial da CTU em detectar alterações precoces na sala de urgência. MÉTODOS: Foram estudados 28 indivíduos, divididos em três grupos: grupo I (13; 52,2±15,5 anos composto por pacientes encaminhados para a sala de urgência com suspeita clínica de SCA, que foi descartada na evolução; grupo II (9; 54,2±10 anos com infarto agudo de coronária direita e grupo III (6; 62,1±9,1 anos com infarto agudo de ramo descendente anterior da coronária esquerda. Para cada indivíduo incluído no estudo, foram avaliados quatro segmentos no eixo curto no plano dos músculos papilares (1 - anterior médio; 2 - ântero-lateral médio; 3 - inferior médio e 4 - septal médio, obtendo-se o coeficiente corrigido, a amplitude de variação do IBS, o índice de retardo da variação e o padrão da variação. RESULTADOS: As alterações decorrentes do processo isquêmico em sua fase inicial não foram detectadas pelo coeficiente corrigido ou pela alteração da amplitude de variação do IBS. Os parâmetros de sincronicidade (índice de retardo e padrão de variação, no entanto, por serem mais sensíveis, foram parcialmente capazes em regiões de infartos mais extensos. CONCLUSÃO: Maiores estudos sobre o comportamento destes índices na fase aguda das SIMI são necessários.BACKGROUND: Ultrasonic tissue characterization (UTC, as evaluated through integrated backscatter, has the potential to detect precocious structural damage to myocardial tissue. In acute coronary syndromes (ACS this technique is attracting attention due to its potential to evaluate myocardial viability. OBJECTIVE: To evaluate the role of UTC in the

  4. [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.

  5. Proteus Syndrome with Arteriovenous Malformation

    Directory of Open Access Journals (Sweden)

    Ali Asilian

    2017-01-01

    Full Text Available Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

  6. Goldenhar syndrome in association with Duane syndrome.

    Science.gov (United States)

    Shrestha, U D; Adhikari, S

    2012-01-01

    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.

  7. Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease.

    Science.gov (United States)

    Janssen, Carl E I; Rose, Carlos D; De Hertogh, Gert; Martin, Tammy M; Bader Meunier, Brigitte; Cimaz, Rolando; Harjacek, Miroslav; Quartier, Pierre; Ten Cate, Rebecca; Thomee, Caroline; Desmet, Valeer J; Fischer, Alain; Roskams, Tania; Wouters, Carine H

    2012-04-01

    Blau syndrome (BS) and Crohn disease (CD) are both characterized by granulomatous inflammation and related to nucleotide oligomerization domain 2 (NOD2) mutations. This study aimed to define the morphologic and immunohistochemical characteristics of granulomas in patients with NOD2-related BS and CD. Granuloma-containing biopsy specimens from 6 patients with BS and 7 pediatric patients with CD carrying NOD2 mutations or single nucleotide polymorphisms were studied for morphology, cellular composition, and cytokine expression by using hematoxylin and eosin staining and immunohistochemistry. Biopsy specimens from patients with BS typically showed polycyclic granulomas with large lymphocytic coronas, extensive emperipolesis of lymphocytes within multinucleated giant cells (MGCs), MGC death, and fibrinoid necrosis and fibrosis. In contrast, biopsy specimens from patients with CD showed simple granulomas with subtle/absent lymphocytic coronas, sclerosis of the surrounding tissue, and polymorphonuclear cells. Findings found to be similar in all granulomas were as follows: CD68 and HLA-DR expression by epithelioid cells, monocyte-macrophage lineage cells and MGCs, increased lymphocytic HLA-DR expression, increased CD4(+)/CD8(+) T-cell ratio, and CD20(+) B lymphocytes evenly distributed within and around granulomas. In both patient groups prominent IFN-γ expression was found in and around granulomas, and TNF-α and IL-23 receptor expression was moderate. IL-6, IL-17, and TGF-β expression was prominent in granulomas from patients with BS but sporadic in granulomas from patients with CD. IL-10 expression was absent. Granulomas from patients with BS and granulomas from patients with NOD2-associated CD show distinct morphologic features and cytokine expression patterns, suggesting that the T(H)17 axis might be involved in the pathogenesis of BS, whereas T(H)1 is important in both patients with BS and patients with CD. Copyright © 2012 American Academy of Allergy, Asthma

  8. Haim-Munk syndrome

    Directory of Open Access Journals (Sweden)

    Pahwa Priyanka

    2010-01-01

    Full Text Available Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefθvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.

  9. Validating Signs and Symptoms From An Actual Mass Casualty Incident to Characterize An Irritant Gas Syndrome Agent (IGSA) Exposure: A First Step in The Development of a Novel IGSA Triage Algorithm.

    Science.gov (United States)

    Culley, Joan M; Richter, Jane; Donevant, Sara; Tavakoli, Abbas; Craig, Jean; DiNardi, Salvatore

    2017-07-01

    • Chemical exposures daily pose a significant threat to life. Rapid assessment by first responders/emergency nurses is required to reduce death and disability. Currently, no informatics tools for Irritant Gas Syndrome Agents (IGSA) exposures exist to process victims efficiently, continuously monitor for latent signs/symptoms, or make triage recommendations. • This study uses actual patient data from a chemical incident to characterize and validate signs/symptoms of an IGSA Syndrome. Validating signs/symptoms is the first step in developing new emergency department informatics tools with the potential to revolutionize the process by which emergency nurses manage triage victims of chemical incidents. Chemical exposures can pose a significant threat to life. Rapid assessment by first responders/emergency nurses is required to reduce death and disability. Currently, no informatics tools for irritant gas syndrome agents (IGSA) exposures exist to process victims efficiently, continuously monitor for latent signs/symptoms, or make triage recommendations. This study describes the first step in developing ED informatics tools for chemical incidents: validation of signs/symptoms that characterize an IGSA syndrome. Data abstracted from 146 patients treated for chlorine exposure in one emergency department during a 2005 train derailment and 152 patients not exposed to chlorine (a comparison group) were mapped to 93 possible signs/symptoms within 2 tools (WISER and CHEMM-IST) designed to assist emergency responders/emergency nurses with managing hazardous material exposures. Inferential statistics (χ(2)/Fisher's exact test) and diagnostics tests were used to examine mapped signs/symptoms of persons who were and were not exposed to chlorine. Three clusters of signs/symptoms are statistically associated with an IGSA syndrome (P signs/symptoms from at least 2 of these clusters. The latency period must also be considered for exposed/potentially exposed persons. This study uses

  10. Hemiplegia Following Mild Head Injury in a Child with Sturge-Weber Syndrome - A Diagnostic Dilemma.

    Science.gov (United States)

    Ahmed, Shameem; Paul, Siba Prosad

    2016-08-01

    Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with skin, eye, and brain involvement. Hemiplegia in children with SWS after a mild head injury is known to occur in up to one-fifth of cases. A3-year male child presented with a sudden onset hemiplegia following a mild head injury. He was known to have seizure disorder and was being treated with sodium valproate. CTscan of the brain showed contusion. He was admitted for neurological observations and the patient made complete recovery with conservative treatment. MRI scan of the brain done 5 days later which showed venous malformation of choroid plexus on the left side. These changes were considered to be consistent with a preexisting cerebral lesion which coincidentally got detected at neuroimaging done after the mild head injury. There is need for good seizure control as it is likely to be associated with better neurological outcome. The case emphasizes the need for clinical correlation with findings at neuroimaging in children with SWS presenting with head injuries.

  11. Juvenile polyposis syndrome

    OpenAIRE

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male...

  12. Metabolic syndrome and anesthesia

    OpenAIRE

    Gómez-Alegría Claudio Jaime; Gómez-Camargo Doris; Palomino-Romero Roberto; Pomares-Estrada José

    2010-01-01

    Metabolic Syndrome (MS) represents a constellation of risk factors associated with an increased incidence of cardiovascular disease and progression to diabetes mellitus. Insulin resistance, a state of reduced biological response to physiological insulin concentrations, is a key component of this syndrome appears to result from a primary defect in skeletal muscle glucose transporter. The acute disease and the perioperative period are characterized by a state of insulin resistance that manifest...

  13. 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.

  14. Ectopic corticotroph syndrome

    OpenAIRE

    Penezić Zorana; Savić Slavica; Vujović Svetlana; Tatić Svetislav B.; Ercegovac Maja; Drezgić Milka

    2004-01-01

    INTRODUCTION Endogenous Cushing's syndrome is a clinical state resulting from prolonged, inappropriate exposure to excessive endogenous secretion of Cortisol and hence excess circulating free cortisol, characterized by loss of the normal feedback mechanisms of the hypothalamo-pituitary-adrenal axis and the normal circadian rhythm of cortisol secretion [2]. The etiology of Cushing's syndrome may be excessive ACTH secretion from the pituitary gland, ectopic ACTH secretion by nonpituitary tumor,...

  15. Ellis Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Shilpy S

    2007-05-01

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

  16. NIJMEGEN BREAKAGE SYNDROME

    Directory of Open Access Journals (Sweden)

    M. Y. Kagan

    2012-01-01

    Full Text Available Nijmegen breakage syndrome (NBS is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5 the disease is encountered most frequently among Slavic populations. We report on a patient with NBS complicated acute leukemia.

  17. Williams syndrome

    Science.gov (United States)

    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org

  18. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  19. Marfan Syndrome

    Science.gov (United States)

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

  20. Brown Syndrome

    Science.gov (United States)

    ... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...

  1. Asperger Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...

  2. Dostoevsky and Stendhal's syndrome.

    Science.gov (United States)

    Amâncio, Edson José

    2005-12-01

    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  3. 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.

  4. Treatment in Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-03-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occur after mild traumatic brain injury. These symptoms usually recover fully within 3-6 months almost in 90% of patients. Persistent post-concussion symptoms could occur in 10% of patients. Diagnosis is based on the subjective complaints and the treatment of the syndrome is mainly of palliative nature. The patient should be educated about the nature and outcome of the syndrome and reassured that almost all symptoms recover fully within 3-6 months. Multifaceted rehabilitation programs and cognitive behavioral therapy could be beneficial. Pharmacotherapy and somatic therapy are other options for persistent symptoms.

  5. [Paroxysmal upgaze deviation syndrome].

    Science.gov (United States)

    Sousa, Leandro; Gonorazky, Sergio

    2010-10-01

    In 1988, Ouvrier and Billson described four children with a condition they termed "benign paroxysmal tonic upgaze syndrome". The clinical picture is characterized by the appearance, in the first months of life, of episodes of paroxysmal upgaze deviation of varying duration, and without alteration of consciousness. Fixation nystagmus is observed when trying to look down. Episodes disappear during sleep. The neurological examination is usually normal, except for mild ataxia. In its idiopatic way, the syndrome tends to spontaneous recovery, but secondary types with different evolution should be rule out. We report two patients, one with Down Syndrome, and we analyze clinical aspects, evolution and differential diagnosis.

  6. Aging and Intellectual Disability: Insights from Mouse Models of Down Syndrome

    Science.gov (United States)

    Ruparelia, Aarti; Pearn, Matthew L.; Mobley, William C.

    2013-01-01

    Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset…

  7. Angelman syndrome: current understanding and research prospects

    National Research Council Canada - National Science Library

    Dan, Bernard

    2009-01-01

    Angelman syndrome is a neurogenetic disorder characterized by developmental delay, severe intellectual disability, absent speech, exuberant behavior with happy demeanor, motor impairment, and epilepsy...

  8. A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-12-01

    Conclusion: SKY, FISH and aCGH are useful in prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial trisomy 21q encompassing the DSCR may present characteristic Down syndrome features on prenatal ultrasound.

  9. 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

    OpenAIRE

    Ichimiya, Yuko; Wada, Yuka; Kunishima, Shinji; Tsukamoto, Keiko; Kosaki, Rika; Sago, Haruhiko; Ishiguro, Akira; Ito, Yushi

    2018-01-01

    Background 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia. In 11q23 deletion syndrome, it is often difficult to anticipate the severity of bleeding. We report a neonatal case of 11q23 deletion syndrome with bleeding that was more severe than predicted by the platelet count. Case presentation We report a case of 11q23 deletion syndrome in an As...

  10. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  11. Craniofacial features in Goldenhar syndrome.

    Science.gov (United States)

    Vinay, C; Reddy, R Sudhakara; Uloopi, K S; Madhuri, V; Sekhar, R Chandra

    2009-01-01

    Goldenhar syndrome also known as oculo-auriculo-vertebral syndrome was first reported by Dr Maurice Goldenhar in 1952. It is a rare disease entity characterized by craniofacial anomalies such as hypoplasia of the mandible and malar bones, microtia, and vertebral anomalies. The etiology of this disease still remains unclear and occurs as sporadic. This report presents goldenhar syndrome in a 12-year-old male patient.

  12. Craniofacial features in Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Vinay C

    2009-06-01

    Full Text Available Goldenhar syndrome also known as oculo-auriculo-vertebral syndrome was first reported by Dr Maurice Goldenhar in 1952. It is a rare disease entity characterized by craniofacial anomalies such as hypoplasia of the mandible and malar bones, microtia, and vertebral anomalies. The etiology of this disease still remains unclear and occurs as sporadic. This report presents goldenhar syndrome in a 12-year-old male patient.

  13. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

    National Research Council Canada - National Science Library

    Umar, Asad; Boland, C Richard; Terdiman, Jonathan P; Syngal, Sapna; de la Chapelle, Albert; Rüschoff, Josef; Fishel, Richard; Lindor, Noralane M; Burgart, Lawrence J; Hamelin, Richard; Hamilton, Stanley R; Hiatt, Robert A; Jass, Jeremy; Lindblom, Annika; Lynch, Henry T; Peltomaki, Païvi; Ramsey, Scott D; Rodriguez-Bigas, Miguel A; Vasen, Hans F A; Hawk, Ernest T; Barrett, J Carl; Freedman, Andrew N; Srivastava, Sudhir

    2004-01-01

    Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite instability (MSI...

  14. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  15. Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, M I; Jespersgaard, C; Brøndum-Nielsen, K

    2015-01-01

    Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirs......Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation...

  16. Bloom syndrome in two siblings.

    Science.gov (United States)

    Sultan, Sheikh Javeed; Sultan, Sheikh Tariq

    2010-01-01

    Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.

  17. Gorlin Goltz Syndrome : A Review

    Directory of Open Access Journals (Sweden)

    M S Deepa

    2003-01-01

    Full Text Available Gorlin syndrome is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, odontogenic keratocysts, tumors, and systemic anomalies. Early diac-iosis and treatment :s of utmost importance in reducing the severity of the long-term sequelae of this syndrome. and review of literature documenting both major and lesser-known manifestations of this disorder is given here.

  18. The Tolosa-Hunt syndrome

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... The Tolosa-Hunt syndrome. or painful ophthalmoplegia. is a rare condition caused by a granulomatous nonspecific process at the level of anterior cavernous sinus. superior orbital fissure and orbital apex. The syndrome is characterized by pain behind. above or around the eye. involvement of the cranial ...

  19. Anti-interleukin-1 alpha autoantibodies in humans: Characterization, isotype distribution, and receptor-binding inhibition--higher frequency in Schnitzler's syndrome (urticaria and macroglobulinemia)

    Energy Technology Data Exchange (ETDEWEB)

    Saurat, J.H.; Schifferli, J.; Steiger, G.; Dayer, J.M.; Didierjean, L. (Department of Dermatology, University Hospital, Geneva (Switzerland))

    1991-08-01

    Since autoantibodies (Abs) to cytokines may modify their biologic activities, high-affinity binding factors for interleukin-1 alpha (IL-1 alpha BF) were characterized in human sera. IL-1 alpha BF was identified as IgG (1) by sucrose density-gradient centrifugation followed by immunodiffusion autoradiography, (2) by ligand-blotting method, (3) by ligand binding to affinity-immobilized serum IgG, and (4) by IgG affinity purification followed by sucrose density-gradient centrifugation. IL-1 alpha binding activity resided in the F(ab)2 fragment. The apparent equilibrium constant was in the range of IgG found after immunization with conventional antigens (i.e., 10(-9) to 10(-10) mol/L). Anti-IL-1 alpha IgG auto-Abs represented only an extremely small fraction of total IgG (less than 1/10(-5)). Some sera with IL-1 alpha BF and purified IgG thereof were able to inhibit by 96% to 98% the binding of human recombinant IL-1 alpha to its receptor on murine thymoma EL4-6.1 cells, whereas other sera did not. When 125I-labeled anti-IL-1 alpha IgG complexes were injected into rats, they prolonged the plasma half-life of 125I-labeled IL-1 alpha several fold and altered its tissue distribution. The predominant class was IgG (12/19), mainly IgG4 (9/19), but in five of the sera, anti-IL-1 alpha IgA was also detected. In a screening of 271 sera, IL-1 alpha BF was detected in 17/98 normal subjects and was not more frequent in several control groups of patients, except in patients with Schnitzler's syndrome (fever, chronic urticaria, bone pain, and monoclonal IgM paraprotein) (6/9; p less than 0.005). The pathologic significance of these auto-Abs remains to be determined.

  20. Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.

    Directory of Open Access Journals (Sweden)

    Steven D Sheridan

    Full Text Available Fragile X syndrome (FXS is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors. FXS is caused by an expanded CGG trinucleotide repeat in the 5' untranslated region of the Fragile X Mental Retardation (FMR1 gene leading to epigenetic silencing and loss of expression of the Fragile X Mental Retardation protein (FMRP. Despite the known relationship between FMR1 CGG repeat expansion and FMR1 silencing, the epigenetic modifications observed at the FMR1 locus, and the consequences of the loss of FMRP on human neurodevelopment and neuronal function remain poorly understood. To address these limitations, we report on the generation of induced pluripotent stem cell (iPSC lines from multiple patients with FXS and the characterization of their differentiation into post-mitotic neurons and glia. We show that clones from reprogrammed FXS patient fibroblast lines exhibit variation with respect to the predominant CGG-repeat length in the FMR1 gene. In two cases, iPSC clones contained predominant CGG-repeat lengths shorter than measured in corresponding input population of fibroblasts. In another instance, reprogramming a mosaic patient having both normal and pre-mutation length CGG repeats resulted in genetically matched iPSC clonal lines differing in FMR1 promoter CpG methylation and FMRP expression. Using this panel of patient-specific, FXS iPSC models, we demonstrate aberrant neuronal differentiation from FXS iPSCs that is directly correlated with epigenetic modification of the FMR1 gene and a loss of FMRP expression. Overall, these findings provide evidence for a key role for FMRP early in human neurodevelopment prior to synaptogenesis and have implications for modeling of FXS using iPSC technology. By revealing disease-associated cellular phenotypes in human neurons, these iPSC models will aid

  1. Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.

    Science.gov (United States)

    Brasa, Sarah; Mueller, Arne; Jacquemont, Sébastien; Hahne, Florian; Rozenberg, Izabela; Peters, Thomas; He, Yunsheng; McCormack, Christine; Gasparini, Fabrizio; Chibout, Salah-Dine; Grenet, Olivier; Moggs, Jonathan; Gomez-Mancilla, Baltazar; Terranova, Rémi

    2016-01-01

    Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from the loss of function of the fragile X mental retardation 1 (FMR1) gene. The molecular pathways associated with FMR1 epigenetic silencing are still elusive, and their characterization may enhance the discovery of novel therapeutic targets as well as the development of novel clinical biomarkers for disease status. We have deployed customized epigenomic profiling assays to comprehensively map the FMR1 locus chromatin landscape in peripheral mononuclear blood cells (PBMCs) from eight FXS patients and in fibroblast cell lines derived from three FXS patient. Deoxyribonucleic acid (DNA) methylation (5-methylcytosine (5mC)) and hydroxymethylation (5-hydroxymethylcytosine (5hmC)) profiling using methylated DNA immunoprecipitation (MeDIP) combined with a custom FMR1 microarray identifies novel regions of DNA (hydroxy)methylation changes within the FMR1 gene body as well as in proximal flanking regions. At the region surrounding the FMR1 transcriptional start sites, increased levels of 5mC were associated to reciprocal changes in 5hmC, representing a novel molecular feature of FXS disease. Locus-specific validation of FMR1 5mC and 5hmC changes highlighted inter-individual differences that may account for the expected DNA methylation mosaicism observed at the FMR1 locus in FXS patients. Chromatin immunoprecipitation (ChIP) profiling of FMR1 histone modifications, together with 5mC/5hmC and gene expression analyses, support a functional relationship between 5hmC levels and FMR1 transcriptional activation and reveal cell-type specific differences in FMR1 epigenetic regulation. Furthermore, whilst 5mC FMR1 levels positively correlated with FXS disease severity (clinical scores of aberrant behavior), our data reveal for the first time an inverse correlation between 5hmC FMR1 levels and FXS disease severity. We identify novel, cell-type specific, regions of FMR1 epigenetic changes

  2. Porcine stress syndrome: an animal model for the neuroleptic malignant syndrome?

    Science.gov (United States)

    Keck, P E; Seeler, D C; Pope, H G; McElroy, S L

    1990-07-01

    The porcine stress syndrome is a genetic disorder of swine which, like neuroleptic malignant syndrome, is characterized by hyperthermia, muscle rigidity, and autonomic dysfunction. We investigated the porcine stress syndrome as a possible animal model for neuroleptic malignant syndrome in two ways. First, we administered haloperidol and lithium carbonate, alone and in combination, to susceptible and resistant swine. Second, we attempted to prevent the syndrome by pretreating animals with bromocriptine. Porcine stress syndrome was induced in 2 of 3 susceptible and 1 of 3 resistant swine by combined treatment with lithium and haloperidol, but was not triggered by treatment with lithium or haloperidol alone. Pretreatment with bromocriptine conferred no protection against the syndrome.

  3. Tourette's Syndrome.

    Science.gov (United States)

    Gilbert, Donald L; Lipps, Tara D

    2005-05-01

    Tourette's syndrome is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics, frequently accompanied by symptoms of obsessiveness and/or compulsiveness, anxiety, and behavioral impulsivity. Treatment of Tourette's syndrome symptoms should be considered when symptoms cause significant functional or social impairment or pain, as occurs with self-injurious tics. Because comorbid psychiatric disorders, particularly attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder often are present, clinicians must work with affected persons and families and prioritize treatment targets based on the specific disorder-related impairment. Treatment with alpha-2 adrenergic agonists may reduce tics and improve ADHD symptoms. Effective treatment of ADHD, even with stimulant medications, in most cases does not exacerbate tics. Treatment with selective serotonin reuptake inhibitors may reduce obsessive-compulsive and anxiety symptoms, secondarily reducing tics. Neuroleptics and atypical antipsychotics may be used for severe tics, but the risk of neurologic side effects and weight gain is significantly higher. Habit reversal treatment shows promise as a nonpharmacologic intervention. Use of deep brain stimulation has produced benefit in three severely affected adults but should still be considered experimental.

  4. 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 (

  5. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... have difficulty riding a bicycle and playing certain sports. Usher syndrome type II is characterized by hearing ... 19-27. Review. Citation on PubMed More from Genetics Home Reference Bulletins Rare Disease Day 2018 Darwin ...

  6. The Clinical, Symptom, and Quality-of-Life Characterization of a Well-Defined Group of Patients with Posttreatment Lyme Disease Syndrome

    Directory of Open Access Journals (Sweden)

    Alison W. Rebman

    2017-12-01

    Full Text Available BackgroundThe increased incidence and geographic expansion of Lyme disease has made it the most common vector-borne infection in North America. Posttreatment Lyme disease syndrome (PTLDS represents a subset of patients who remain ill following standard antibiotic therapy for Lyme disease. The spectrum of symptoms and their impact on quality of life remain largely unexplored among patients with well-documented PTLDS.ObjectiveTo characterize a case series of patients with well-documented PTLDS compared to a sample of healthy controls.MethodsSixty-one participants met the proposed case definition for PTLDS. Twenty-six healthy controls had neither a clinical history of Lyme disease nor current antibodies to Borrelia burgdorferi. Participants with PTLDS and controls were evaluated by physical exam, clinical laboratory testing, standardized questionnaires, and a 36-item current symptom list.ResultsCompared to controls, participants with PTLDS reported significantly greater fatigue, pain, sleep disturbance, and depression (Fatigue Severity Scale: 50.0 ± 10.6 vs. 19.8 ± 8.6; Short-Form McGill Pain Questionnaire: 13.7 ± 8.3 vs. 0.8 ± 1.9; Pittsburgh Sleep Quality Index: 10.1 ± 4.7 vs. 4.1 ± 2.1; Beck Depression Inventory-II: 15.1 ± 7.7 vs. 2.2 ± 3.2; p < 0.001 for each, and significantly lower quality of life (SF-36 Physical Component Score: 33.9 ± 9.7 vs. 55.1 ± 6.2; Mental Component Score: 42.9 ± 10.1 vs. 54.2 ± 5.4; p < 0.001 for each. Nineteen non-PTLDS-defining symptoms were found to be significantly more severe among participants with PTLDS than controls, including sleep difficultly and visual complaints. Initial delayed or misdiagnosis was characterized in 59.0% of participants with PTLDS, and 32.2% had abnormal vibratory sense.ConclusionAlthough physical exam and clinical laboratory tests showed few objective abnormalities, standardized symptom questionnaires revealed that

  7. Frailty syndrome

    DEFF Research Database (Denmark)

    Fumagalli, Stefano; Potpara, Tatjana S; Bjerregaard Larsen, Torben

    2017-01-01

    The age of patients presenting with complex arrhythmias is increasing. Frailty is a multifaceted syndrome characterized by an increased vulnerability to stressors and a decreased ability to maintain homeostasis. The prevalence of frailty is associated with age. The aims of this European Heart...... Rhythm Association (EHRA) EP Wire survey were to evaluate the proportion of patients with frailty and its influence on the clinical management of arrhythmias. A total of 41 centres-members of the EHRA Electrophysiology Research Network-in 14 European countries completed the web-based questionnaire...... in June 2017. Patients over 70 years represented 53% of the total treated population, with the proportion of frail elderly individuals reaching approximately 10%; 91.7% of the responding centres reported treating frail subjects in the previous year. The respondents usually recognized frailty based...

  8. HELLP syndrome in a pregnant patient with Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Minhyeok Lee

    2017-03-01

    Full Text Available Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of atypical eclampsia in a 31-year-old who was diagnosed with Gitelman syndrome incidentally during an antenatal screening test. The patient did well during pregnancy despite significant hypokalemia. At 33 weeks’ gestation, the patient exhibited eclampsia, hemolysis, elevated liver enzymes, low platelets (HELLP syndrome, and renal insufficiency without significant hypertension or proteinuria. We explain this unusual clinical course through a review of the relevant literature.

  9. Interstitial Cystitis/Painful Bladder Syndrome and Associated Medical Conditions With an Emphasis on Irritable Bowel Syndrome, Fibromyalgia and Chronic Fatigue Syndrome

    DEFF Research Database (Denmark)

    Nickel, J.C.; Tripp, D.A.; Pontari, M.

    2010-01-01

    Purpose: We characterized and compared the impact of clinical phenotypic associations between interstitial cystitis/painful bladder syndrome and controls in relation to potentially related conditions, particularly irritable bowel syndrome, fibromyalgia and chronic fatigue syndrome. Materials...... cystitis/painful bladder syndrome vs controls was irritable bowel syndrome 38.6% vs 5.2%, fibromyalgia 17.7% vs 2.6% and chronic fatigue syndrome 9.5% vs 1.7% (all p syndrome cohort 50.3% reported no other associated condition, 24.4% had interstitial...... cystitis/painful bladder syndrome + irritable bowel syndrome only, 2.5% had interstitial cystitis/painful bladder syndrome + fibromyalgia only, 1.5% had interstitial cystitis/painful bladder syndrome + chronic fatigue syndrome only, while 20.2% had multiple associated conditions. As the number...

  10. 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.

  11. Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Priya Shirish Joshi

    2012-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31 and loss or mutations of human patched gene (PTCH1 gene. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

  12. 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...

  13. Nevoid basal cell carcinoma syndrome

    Directory of Open Access Journals (Sweden)

    Kannan Karthiga

    2006-01-01

    Full Text Available Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS. NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.

  14. Joubert Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Mürüvet Akın

    2012-10-01

    Full Text Available Joubert Syndrome is a rare autosomal recessive disorder characterized with hypotonia, ataxia, mental and motor retardation, episodic tachypnea-apnea and oculomotor anomalies. Prognosis is poor in patients with hypotonia and severe growth retardation. Its characteristic imaging finding is hypoplasia of cerebellar vermis and ‘molar tooth sign’ in brainstem. Dandy-Walker formation and Down Syndrome take part in differential diagnosis. Clinical findings of Joubert Syndrome are quite heterogenous. Thus determination of radiological findings is essential. In this paper, a case who applied to our clinic with complaint of headache and who had mild mental-motor retardation and diagnosed as Joubert Syndrome radiologically was presented.

  15. A case with probable herpes simplex encephalitis characterized by specific emotional and behavioral disorders and Gogi (word-meaning) aphasia-like syndrome with neologism and neologistic kanji processing.

    Science.gov (United States)

    Jibiki, I; Yamaguchi, N

    1992-01-01

    A right-handed male patient with probable herpes simplex encephalitis is presented because of the rarity of the clinicial picture. Brain X-ray CT scans showed lesions located in the bilateral fronto-temporal regions primarily involving the left lower temporal lobe. The clinical picture following the acute phase of the disease was characterized by specific emotional and behavioral disorders, i.e. oral tendency, hyperactivity, thoughtless talkativeness, random speech and exhilaration, which were partly compatible with the Klüver-Bucy syndrome. Furthermore, this case was characterized by Gogi (word-meaning) aphasia-like transcortical sensory aphasia and neologism produced saliently when naming objects and peculiar neologistic kanji processing in writing to dictation and oral reading. Both the neologism and neologistic kanji processing varied in quantity in parallel with the specific emotional and behavioral disorders. The relationships of these clinical features to lesional sites demonstrated by X-ray CT are discussed.

  16. A Case with Probable Herpes Simplex Encephalitis Characterized by Specific Emotional and Behavioral Disorders and Gogi (Word-Meaning Aphasia-Like Syndrome with Neologism and Neologistic Kanji Processing

    Directory of Open Access Journals (Sweden)

    I. Jibiki

    1992-01-01

    Full Text Available A right-handed male patient with probable herpes simplex encephalitis is presented because of the rarity of the clinicial picture. Brain X-ray CT scans showed lesions located in the bilateral fronto-temporal regions primarily involving the left lower temporal lobe. The clinical picture following the acute phase of the disease was characterized by specific emotional and behavioral disorders, i.e. oral tendency, hyperactivity, thoughtless talkativeness, random speech and exhilaration, which were partly compatible with the Klüver-Bucy syndrome. Furthermore, this case was characterized by Gogi (word-meaning aphasia-like transcortical sensory aphasia and neologism produced saliently when naming objects and peculiar neologistic kanji processing in writing to dictation and oral reading. Both the neologism and neologistic kanji processing varied in quantity in parallel with the specific emotional and behavioral disorders. The relationships of these clinical features to lesional sites demonstrated by X-ray CT are discussed.

  17. Dentofacial characteristics in William′s syndrome

    Directory of Open Access Journals (Sweden)

    P Poornima

    2012-01-01

    Full Text Available William′s syndrome is a chromosomal disorder characterized by multisystem, congenital and panethnic occurrence, characterized by a number of developmental and physical abnormalities. This case report describes the dental management of a 10-year-old male patient with William′s syndrome who had multiple dental problems such as caries, periodontal disease and malocclusion.

  18. Gorlin‑Goltz Syndrome

    African Journals Online (AJOL)

    Introduction. Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder.[1] It is characterized by basal cell carcinomas, odontogenic keratocysts (OKCs), palmar and/or plantar pits and ectopic calcifications of the falx cerebri.[2] It was first reported by Jarisch and White in 1894. Ljubenovi.

  19. Klippel-Feil Syndrome

    Science.gov (United States)

    ... factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae. × Definition Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It ...

  20. Tourette Syndrome: Classroom Implications

    Science.gov (United States)

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  1. Pink urine syndrome

    Directory of Open Access Journals (Sweden)

    Luis del Carpio-Orantes

    2017-03-01

    Full Text Available In the present images we allude to a syndrome of low incidence, characterized by pink urine, being related to factors such as obesity, and being triggered by abdominal surgeries, use of propofol, among others. Being favoured by the presence of abundant crystals of uric acid in the urine confers the typical pink coloration.

  2. Genetic and antigenic characterization of complete genomes of Type 1 Porcine Reproductive and Respiratory Syndrome viruses (PRRSV) isolated in Denmark over a period of 10 years

    DEFF Research Database (Denmark)

    Kvisgaard, Lise Kirstine; Hjulsager, Charlotte Kristiane; Kristensen, Charlotte

    2013-01-01

    Porcine Reproductive and Respiratory Syndrome (PRRS) caused by the PRRS virus (PRRSV) is considered one of the most devastating swine diseases worldwide. PRRS viruses are divided into two major genotypes, Type 1 and Type 2, with pronounced diversity between and within the genotypes. In Denmark more...

  3. Comparison of inoculation methods for characterizing relative aggressiveness of two soybean sudden-death syndrome pathogens, Fusarium virguliforme and F. tucumaniae

    Science.gov (United States)

    Fusarium tucumaniae and F. virguliforme are the primary etiological agents of sudden-death syndrome (SDS) of soybean in Argentina and the United States, respectively. Five isolates of F. tucumaniae and four of F. virguliforme were tested for pathogenicity to soybeans, by comparing a toothpick method...

  4. Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15(q26.2q26.3

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-09-01

    Conclusion: The present case provides evidence for prenatal overgrowth, craniosynostosis, and characteristic facial dysmorphism in association with a duplication of 15q26.2→q26.3 and a duplication of the IGF1R gene. Prenatal diagnosis of fetal overgrowth should include a differential diagnosis of the chromosome 15q overgrowth syndrome.

  5. Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada Syndrome mutant

    DEFF Research Database (Denmark)

    Yuan, Lei; Koivumaki, Jussi; Liang, Bo

    2014-01-01

    Brugada Syndrome (BrS) is a rare inherited disease which can give rise to ventricular arrhythmia and ultimately sudden cardiac death. Numerous loss-of-function mutations in the cardiac sodium channel Nav1.5 have been associated with BrS. However, few mutations in the auxiliary Navβ1-4 subunits ha...

  6. Hereditary autoinflammatory syndromes : with emphasis on hyper-IgD and periodic fever syndrome

    NARCIS (Netherlands)

    Simon, A.

    2004-01-01

    The subject of this thesis is a group of rare hereditary disorders, collectively called auto-inflammatory syndromes, with a specific focus on the hyper-IgD and periodic fever syndrome. The autoinflammatory syndromes are characterized by lifelong recurrent episodes with fever, usually accompanied by

  7. Down Syndrome - Genetics and Cardiogenetics.

    Science.gov (United States)

    Plaiasu, Vasilica

    2017-09-01

    During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21. Prenatal and postnatal testing has become commonly used to diagnose different cases presenting the same pathology. Early clinical diagnosis is extremely important for patient prognosis. Lately, advances in Down syndrome research have been registered, but little is known about cardiovascular phenotype in Down syndrome. About half of patients with Down syndrome have congenital heart disease, and atrioventricular septal defects are the most common defects found. Basic research on Down syndrome is now rapidly accelerating, using new genomic technologies. There were many studies performed to identify a correlation between genotype and phenotype in Down syndrome.

  8. Dumping Syndrome

    Science.gov (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  9. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  10. Alagille Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  11. Reye Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  12. Zellweger Syndrome

    Science.gov (United States)

    ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ...

  13. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Criton S

    1995-01-01

    Full Text Available Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.

  14. Overlap syndromes

    NARCIS (Netherlands)

    Beuers, Ulrich; Rust, Christian

    2005-01-01

    In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic

  15. 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 ...

  16. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  17. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  18. 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 X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  19. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  20. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  1. Alport Syndrome

    Science.gov (United States)

    ... body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. Other signs and ... and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than ...

  2. Moebius Syndrome

    Science.gov (United States)

    ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ...

  3. Heart and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  4. Down Syndrome: Education

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  5. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  6. Down Syndrome: Education

    Science.gov (United States)

    ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Preferred Language Guide Down Syndrome Facts Down ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Down Syndrome Facts Preferred Language Guide Publications ...

  7. Facts About Usher Syndrome

    Science.gov (United States)

    ... Usher Syndrome > Facts About Usher Syndrome Facts About Usher Syndrome This information was developed by the National Eye ... is the best person to answer specific questions. Usher Syndrome Defined What is Usher syndrome? Usher syndrome is ...

  8. International Rett Syndrome Foundation

    Science.gov (United States)

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

  9. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  10. Interstitial Cystitis/Painful Bladder Syndrome and Associated Medical Conditions With an Emphasis on Irritable Bowel Syndrome, Fibromyalgia and Chronic Fatigue Syndrome

    DEFF Research Database (Denmark)

    Nickel, J.C.; Tripp, D.A.; Pontari, M.

    2010-01-01

    Purpose: We characterized and compared the impact of clinical phenotypic associations between interstitial cystitis/painful bladder syndrome and controls in relation to potentially related conditions, particularly irritable bowel syndrome, fibromyalgia and chronic fatigue syndrome. Materials...... cystitis/painful bladder syndrome vs controls was irritable bowel syndrome 38.6% vs 5.2%, fibromyalgia 17.7% vs 2.6% and chronic fatigue syndrome 9.5% vs 1.7% (all p ... cystitis/painful bladder syndrome + irritable bowel syndrome only, 2.5% had interstitial cystitis/painful bladder syndrome + fibromyalgia only, 1.5% had interstitial cystitis/painful bladder syndrome + chronic fatigue syndrome only, while 20.2% had multiple associated conditions. As the number...

  11. Metabolic Syndrome

    Science.gov (United States)

    ... much saturated fat, and does not get enough physical activity may develop metabolic syndrome. Other causes include insulin resistance and a family ... you’re overweight. It also includes getting more physical activity and eating a ... syndrome treatment If you already have metabolic syndrome, making ...

  12. Goodpasture Syndrome

    Science.gov (United States)

    ... necessary. Eating, Diet, and Nutrition Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. Points to Remember Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses ...

  13. [Reye's syndrome].

    Science.gov (United States)

    Yoshida, I

    2000-11-01

    A nationwide survey on Reye's syndrome(RS) was described. And problems between RS and influenza virus such as etiology, pathophysiology, differential diagnosis and epidemiology were reviewed. So-called aspirin issue on RS was re-evaluated according to recent advance of RS research. Finally future aspect of Reye's syndrome was also discussed.

  14. Reye's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Reye's Syndrome Information Page Reye's Syndrome Information Page What research is being done? Much ... Information from the National Library of Medicine’s MedlinePlus Reye's Syndrome × What research is being done? Much of the ...

  15. [Cardiorenal syndrome].

    Science.gov (United States)

    Salleck, D; John, S

    2017-09-13

    Patients in the intensive care unit often suffer from cardiorenal syndrome, which can have an important influence on the patient's outcome. The heart and kidney influence each other via organ crosstalk. We screened and evaluated current publications on cardiorenal syndromes and their therapy. A key role in the management of cardiorenal syndromes is renal decongestion via loop diuretics.

  16. Elsahy-Waters Syndrome: Evidence for Autosomal Recessive Inheritance

    NARCIS (Netherlands)

    Castori, Marco; Cascone, Piero; Valiante, Michele; Laino, Luigi; Iannetti, Giorgio; Hennekam, Raoul C. M.; Grammatico, Paola

    2010-01-01

    Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism/telechantus, broad nose, concave nasal ridge,

  17. Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.

    Science.gov (United States)

    Watanabe, Yuko; Shido, Kosuke; Niihori, Tetsuya; Niizuma, Hidetaka; Katata, Yu; Iizuka, Chie; Oba, Daiju; Moriya, Kunihiko; Saito-Nanjo, Yuka; Onuma, Masaei; Rikiishi, Takeshi; Sasahara, Yoji; Watanabe, Mika; Aiba, Setsuya; Saito, Ryuta; Sonoda, Yukihiko; Tominaga, Teiji; Aoki, Yoko; Kure, Shigeo

    2016-01-01

    Genetic mosaicism for somatic mutations of oncogenes is common in genodermatoses, which can be complicated with extra-cutaneous abnormalities. Here we describe an infant with a congenital anaplastic astrocytoma, a linear syringocystadenoma papilliferum, and ocular abnormalities. The BRAF c.1799T>A p.V600E mutation was detected in both the brain and skin tumor cells but not in the blood or normal skin cells, suggesting somatic mosaicsism for the mutation. Clinically, the brain tumor gradually became life threatening without any response to conventional chemotherapies including carboplatin, etoposide, and temozolomide. Vemurafenib, a BRAF p.V600E inhibitor, was administered daily after the detection of the BRAF mutation. This single-agent therapy was dramatically effective against the anaplastic astrocytoma; the tumor regressed, the cerebrospinal fluid cell count and protein levels decreased to normal levels, and hydrocephalus resolved. Moreover, other lesions including a corneal cyst also responded to vemurafenib. The brain tumor continued shrinking after 6 months of treatment. We present a genodermatosis syndrome associated with BRAF c.1799T>A p.V600E mosaicism. This syndrome may represent a new entity in the mosaic RASopathies, partly overlapping with Schimmelpenning-Feuerstein-Mims syndrome, which is driven by mosaicism of HRAS and/or KRAS activating mutations. Screening for BRAF c.1799T>A p.V600E is especially useful for those with malignant tumors, because it is one of the most-druggable targets. © 2015 Wiley Periodicals, Inc.

  18. Asperger syndrome revisited.

    Science.gov (United States)

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

    2006-01-01

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

  19. [Pearson syndrome. Case report].

    Science.gov (United States)

    Cammarata-Scalisi, Francisco; López-Gallardo, Ester; Emperador, Sonia; Ruiz-Pesini, Eduardo; Da Silva, Gloria; Camacho, Nolis; Montoya, Julio

    2011-09-01

    Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

  20. Molecular and Functional Characterization of Novel Glycerol-3-Phosphate Dehydrogenase 1–Like Gene (GPD1-L) Mutations in Sudden Infant Death Syndrome

    Science.gov (United States)

    Van Norstrand, David W.; Valdivia, Carmen R.; Tester, David J.; Ueda, Kazuo; London, Barry; Makielski, Jonathan C.; Ackerman, Michael J.

    2012-01-01

    Background Autopsy-negative sudden unexplained death, including sudden infant death syndrome, can be caused by cardiac channelopathies such as Brugada syndrome (BrS). Type 1 BrS, caused by mutations in the SCN5A-encoded sodium channel, accounts for ≈20% of BrS. Recently, a novel mutation in the glycerol-3-phosphate dehydrogenase 1–like gene (GPD1-L) disrupted trafficking of SCN5A in a multigenerational family with BrS. We hypothesized that mutations in GPD1-L may be responsible for some cases of sudden unexplained death/sudden infant death syndrome. Methods and Results Using denaturing high-performance liquid chromatography and direct DNA sequencing, we performed comprehensive open-reading frame/splice site mutational analysis of GPD1-L on genomic DNA extracted from necropsy tissue of 83 unrelated cases of sudden unexplained death (26 females, 57 males; average age, 14.6±10.7 years; range, 1 month to 48 years). A putative, sudden unexplained death–associated GPD1-L missense mutation, E83K, was discovered in a 3-month-old white boy. Further mutational analysis was then performed on genomic DNA derived from a population-based cohort of 221 anonymous cases of sudden infant death syndrome (84 females, 137 males; average age, 3±2 months; range, 3 days to 12 months), revealing 2 additional mutations, I124V and R273C, in a 5-week-old white girl and a 1-month-old white boy, respectively. All mutations occurred in highly conserved residues and were absent in 600 reference alleles. Compared with wild-type GPD1-L, GPD1-L mutations coexpressed with SCN5A in heterologous HEK cells produced a significantly reduced sodium current (Psudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1-L precipitate a marked decrease in the peak sodium current and a potentially lethal BrS-like proarrhythmic substrate. PMID:17967976

  1. X-linked Alport syndrome

    DEFF Research Database (Denmark)

    Jais, Jean Philippe; Knebelmann, Bertrand; Giatras, Iannis

    2003-01-01

    Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disea...

  2. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

    Science.gov (United States)

    Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

    2017-09-21

    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

  3. Antipsychotic Drugs Rechallenge in Multi-antipsychotic Drug Induced Atypical Neuroleptic Malignant Syndrome: A Case of Cotard’s Syndrome

    OpenAIRE

    Helin Yılmaz; N. Burcu Özbaran; Sezen Köse

    2017-01-01

    Neuroleptic malignant syndrome (NMS) is an uncommon but potentially fatal idiosyncratic reaction to neuroleptics and characterized by a distinctive clinical syndrome of mental status change, rigidity, fever, and dysautonomia. Cotard’s syndrome is characterized by the appearance of nihilistic delusions concerning one’s own body or life. By presenting this case, we aim to discuss the differential diagnosis and treatment plan of a patient with catatonia and Cotard’s syndrome, which were noted af...

  4. Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.

    Science.gov (United States)

    Kubota, Kazuo; Ohnishi, Hidenori; Teramoto, Takahide; Kawamoto, Norio; Kasahara, Kimiko; Ohara, Osamu; Kondo, Naomi

    2014-07-01

    To investigate clinical presentation, genetic background and cytokine profile of Japanese sporadic cases of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Nine PFAPA syndrome patients were recruited. DNA sequence analysis of auto inflammatory disorder susceptibility genes, MEFV, MVK, NLRP3, and TNFRSF1A, were performed. Serum cytokine levels and monocyte IL-1β levels were measured by ELISA. The study population consisted of six males and three females (mean age of onset 26.8 months). Febrile episodes lasted 3-6 days with symptom-free intervals ranging from 2 to 12 weeks. Fever was accompanied by pharyngitis (n = 8), aphthous stomatitis (n = 4), and cervical adenitis (n = 5). White blood cells and C-reactive protein were increased during the attack phase. Mean IgD serum levels were 7.32 ± 9.51 mg/dl during the attack phase, and were mildly elevated in two patients. Heterozygous MEFV, NLRP3 and TNFRSF1A variants were detected in four, one and three cases, respectively. Serum TNF-α and IL-18 levels were elevated during the attack-free and attack periods compared with controls. Other cytokines, IL-1β, IL-1ra, IL-6, and sTNFR1, were only increased during the attack phase. Oral prednisolone was administered to eight patients and immediately reduced fever. Tonsillectomy performed in five patients induced cessation of fever in four patients. One case with repeated fever attacks after tonsillectomy showed increased monocyte IL-1β production, similar to the other active case with genetic variants of auto inflammatory disorder-associated genes. Japanese PFAPA syndrome patients may have cytokine regulation dysfunction as a result of genetic variants of auto inflammatory disorder-associated genes.

  5. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    Directory of Open Access Journals (Sweden)

    Mohan Makwana

    2017-04-01

    Full Text Available BACKGROUND Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. The primary idiopathic form “moyamoya disease” has been distinguished from an associated form of “moyamoya syndrome,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma. There have been only 47 previous cases of moyamoya syndrome in association with Down syndrome reported in the world literature. Recently, we have come across a Case of Downs’ Syndrome with Moyamoya Syndrome. Because of its rarity we want to report our case.

  6. Restless legs syndrome.

    Science.gov (United States)

    Venkateshiah, Saiprakash B; Ioachimescu, Octavian C

    2015-07-01

    Restless legs syndrome is a common sensorimotor disorder characterized by an urge to move, and associated with uncomfortable sensations in the legs (limbs). Restless legs syndrome can lead to sleep-onset or sleep-maintenance insomnia, and occasionally excessive daytime sleepiness, all leading to significant morbidity. Brain iron deficiency and dopaminergic neurotransmission abnormalities play a central role in the pathogenesis of this disorder, along with other nondopaminergic systems, although the exact mechanisms are still. Intensive care unit patients are especially vulnerable to have unmasking or exacerbation of restless legs syndrome because of sleep deprivation, circadian rhythm disturbance, immobilization, iron deficiency, and use of multiple medications that can antagonize dopamine. Published by Elsevier Inc.

  7. Brachman de lange syndrome

    Directory of Open Access Journals (Sweden)

    Leena Verma

    2010-01-01

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

  8. Femoroacetabular impingement syndrome

    Directory of Open Access Journals (Sweden)

    Tolga Ege

    2016-03-01

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

  9. Papillon-Lefevre syndrome

    Directory of Open Access Journals (Sweden)

    S Sujatha

    2009-01-01

    Full Text Available Papillon-Lefevre syndrome (PLS is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. The palmar-plantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at the age of 3 or 4 years. The exact pathogenesis of these clinical events remains mainly speculative. An early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. This paper describes a case of PLS with classic clinical features and briefly reviews the relevant literature.

  10. Antiphospholipid syndrome.

    Science.gov (United States)

    Schreiber, Karen; Sciascia, Savino; de Groot, Philip G; Devreese, Katrien; Jacobsen, Soren; Ruiz-Irastorza, Guillermo; Salmon, Jane E; Shoenfeld, Yehuda; Shovman, Ora; Hunt, Beverley J

    2018-01-11

    Antiphospholipid syndrome (APS) is an autoimmune disease characterized by the presence of antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies and anti-β2-glycoprotein 1 antibodies. APS can present with a variety of clinical phenotypes, including thrombosis in the veins, arteries and microvasculature as well as obstetrical complications. The pathophysiological hallmark is thrombosis, but other factors such as complement activation might be important. Prevention of thrombotic manifestations associated with APS includes lifestyle changes and, in individuals at high risk, low-dose aspirin. Prevention and treatment of thrombotic events are dependent mainly on the use of vitamin K antagonists. Immunosuppression and anticomplement therapy have been used anecdotally but have not been adequately tested. Pregnancy morbidity includes unexplained recurrent early miscarriage, fetal death and late obstetrical manifestation such as pre-eclampsia, premature birth or fetal growth restriction associated with placental insufficiency. Current treatment to prevent obstetrical morbidity is based on low-dose aspirin and/or low-molecular-weight heparin and has improved pregnancy outcomes to achieve successful live birth in >70% of pregnancies. Although hydroxychloroquine and pravastatin might further improve pregnancy outcomes, prospective clinical trials are required to confirm these findings.

  11. Tourette syndrome.

    Science.gov (United States)

    Shahana, Nasrin; Gilbert, Donald L

    2013-01-01

    This chapter addresses research applications of transcranial magnetic stimulation (TMS) in Tourette syndrome (TS). TS is a primary, idiopathic, neurological disorder characterized by multiple motor and vocal tics of childhood onset, with duration greater than 1 year, and associated in the majority of cases with attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and/or other psychiatric disorders. The majority of the chapter is a critical synopsis of case-control studies applying basic single- and paired-pulse TMS techniques to "resting" motor cortex. Newer applications of theta-burst stimulation are also analyzed. A number of intriguing findings have emerged, which may reflect abnormalities in several disrupted inhibitory or modulatory pathways that may underlie the tendency to manifest tics as well as commonly co-occurring problems such as ADHD and OCD. Chapter sections are organized by type of TMS measurement, with each section describing briefly the technique, the pitfalls of the technique with regard to the above-described challenges, the findings in TS using that technique, and the possible implications for those findings in furthering our understanding of TS. Possible future applications for TMS in studying TS are also discussed. © 2013 Elsevier B.V. All rights reserved.

  12. Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome

    Directory of Open Access Journals (Sweden)

    Jutur Pramod

    2010-01-01

    Full Text Available Short rib polydactyly syndrome (SRPS type 2 (Majewski syndrome is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia, with characteristic short ovoid tibiae. There may or may not be visceral involvement. We report a case of SRPS type 2 that was diagnosed by antenatal USG at 28 weeks of gestation; the diagnosis was subsequently confirmed by postnatal radiography, fetal autopsy, and histopathology.

  13. Paraneoplastic endocrine-metabolic syndromes

    Directory of Open Access Journals (Sweden)

    Marco Grandi

    2013-04-01

    Full Text Available BACKGROUND The paraneoplastic syndromes (PS are characterized by the presence of biochemical alterations, signs and symptoms expressive of cancer distance action into the patient’s organism. Sometimes these syndromes can precede the evidence of malignancy even of some years or can correspond to cancer relapse. PS, even being characterized by general symptoms (fever, anorexia, cachexia, may occur with neurological, rheumathological, osteoarticular, vascular, haematological, nephrological and endocrinological/metabolic symptoms; the latter ones are discussed in this article. AIM OF THE STUDY Here we will focus on the most common PS: paraneoplastic hypercalcemia, inappropriate secretion of antidiuretic hormone (SIADH and paraneoplastic Cushing syndrome. CONCLUSIONS Our work can be useful in the diagnosis and therapeutic management of paraneoplastic syndromes.

  14. [Practical update of Tsaktubo syndrome].

    Science.gov (United States)

    Núñez-Gil, Iván J; Mejía-Rentería, Hernán D; Martínez-Losas, Pedro

    2016-03-04

    Takotsubo syndrome, apical ballooning or «broken heart» syndrome, is a growing diagnostic entity which clinically mimics an acute coronary syndrome. Included into the stress cardiomyopathy group of cardiopathies, this condition is characterized by the absence of potentially responsible coronary lesions, while displaying a transient abnormal ventricular motion, usually affecting various coronary territories. It is generally observed in postmenopausal women and frequently seen in the presence of a stressful situation, both physical and emotional. With a prevalence of 1.2% among patients undergoing a cardiac catheterization with a suspected diagnosis of acute coronary syndromes, Takotsubo syndrome usually has a good prognosis. However, complications can occur in the acute phase, generally heart failure, which can even lead to death. In this review we discuss the latest available information on this disease and present it in a practical and useful way for the attending physician. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  15. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

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

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... risk associated with increased blood pressure. As the definition of the metabolic syndrome is based on dichotomization of cardiovascular risk factors with a continuously increasing risk, it cannot match risk stratification tools like the HeartScore for calculation of prognosis. However, the metabolic...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun-15...

  16. Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome.

    Science.gov (United States)

    Reiss, U; Hofweber, K; Herterich, R; Waldherr, R; Bohnert, E; Jung, E; Schärer, K

    1996-10-01

    This report describes a boy with an atypical severe from of Cockayne syndrome type II manifesting in infancy. He developed nephrotic syndrome at the age of 4.7 years and a hypertensive crisis with hemiparesis at 5.4 years. Renal biopsy revealed focal segmental glomerulosclerosis, which was confirmed at autopsy. Adrenocortical failure was also present. The course was characterized by frequent infections and an episode of myocarditis. The boy died at the age of 6.0 years after rapid neurological deterioration accompanied by renal insufficiency. Autopsy disclosed cerebral leukodystrophy compatible with Cockayne syndrome.

  17. The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.

    Science.gov (United States)

    Figiel, Małgorzata; Chon, Hyongi; Cerritelli, Susana M; Cybulska, Magdalena; Crouch, Robert J; Nowotny, Marcin

    2011-03-25

    RNase H2 cleaves RNA sequences that are part of RNA/DNA hybrids or that are incorporated into DNA, thus, preventing genomic instability and the accumulation of aberrant nucleic acid, which in humans induces Aicardi-Goutières syndrome, a severe autoimmune disorder. The 3.1 Å crystal structure of human RNase H2 presented here allowed us to map the positions of all 29 mutations found in Aicardi-Goutières syndrome patients, several of which were not visible in the previously reported mouse RNase H2. We propose the possible effects of these mutations on the protein stability and function. Bacterial and eukaryotic RNases H2 differ in composition and substrate specificity. Bacterial RNases H2 are monomeric proteins and homologs of the eukaryotic RNases H2 catalytic subunit, which in addition possesses two accessory proteins. The eukaryotic RNase H2 heterotrimeric complex recognizes RNA/DNA hybrids and (5')RNA-DNA(3')/DNA junction hybrids as substrates with similar efficiency, whereas bacterial RNases H2 are highly specialized in the recognition of the (5')RNA-DNA(3') junction and very poorly cleave RNA/DNA hybrids in the presence of Mg(2+) ions. Using the crystal structure of the Thermotoga maritima RNase H2-substrate complex, we modeled the human RNase H2-substrate complex and verified the model by mutational analysis. Our model indicates that the difference in substrate preference stems from the different position of the crucial tyrosine residue involved in substrate binding and recognition.

  18. Caracterização das habilidades simbólicas de crianças com síndrome de Down Characterization of the symbolic abilities of children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Mariane Nardezi Ciciliato

    2010-01-01

    Full Text Available OBJETIVO: Caracterizar as habilidades simbólicas de um grupo de crianças com síndrome de Down. MÉTODOS: Participaram do estudo 26 crianças com idades entre 12 e 36 meses, divididas em dois grupos: grupo síndrome de Down (GSD e grupo controle (GC - crianças com desenvolvimento normal. Os grupos foram subdivididos de acordo com a idade: GSD I e GC I, compostos por crianças de 12 a 24 meses; GSD II e GC II, com crianças de 25 a 36 meses. Os dados foram coletados por meio da interação com a examinadora em situação lúdica, durante 30 minutos o GSD e 20 minutos o GC, de acordo com a proposta do protocolo de observação comportamental. RESULTADOS: Comparando ambos os grupos controle encontramos diferença (pPURPOSE: To characterize the symbolic abilities of a group of children with Down syndrome. METHODS: The study included 26 children with ages ranging from 12 to 36 months, divided into two groups: Down syndrome group (DSG and control group (CG - children within normal development. The groups were subdivided according to age range: DSG I and CG I comprised children from 12 to 24 months old; DSG II and CG II, children from 25 to 36 months. Data were gathered during a 30- (DSG or 20-minute (CG interaction session with the examiner, in a playful situation, according to the proposal of the behavioral observation protocol. RESULTS: The comparison between the control groups showed differences (p<0.05 in the forms of objects' manipulation, the level of symbolic development, and in overall performance on the protocol. In both Down syndrome groups there was a difference in the level of symbolic development. The between-group comparison according to age groups indicated differences in how children manipulated objects, in the level of symbolic development, and in overall performance on the protocol. The imitation of sounds and gestures did not differ significantly in this study. CONCLUSION: The results confirmed the hypothesis of delay in the

  19. "Moebius syndrome": a case report.

    Science.gov (United States)

    Shashikiran, N D; Subba Reddy, V V; Patil, R

    2004-09-01

    Moebius syndrome is an extremely rare disorder characterized by a lifetime facial paralysis, involving sixth and seventh cranial nerves with malformations of orofacial structures and the limbs. In this case, an 8 year old girl with Moebius syndrome is presented, clinical findings are described and management aspects are discussed. Early dental evaluation and parental counselling as a part of preventive dental regimen can go a long way in providing complete psychosocial rehabilitation for such physically disabled children.

  20. HEMICONVULSION-HEMIPLEGIA-EPILEPSY SYNDROME

    OpenAIRE

    Ashrafi, M. R.; J. Tafarroji

    2009-01-01

    ObjectiveHemiconvulsion-Hemiplegia-Epilepsy syndrome (HHE) is an initial phase of unilateral or predominantly unilateral convulsive seizures usually of long duration, with a second phase of hemiplegia (usually permanent), immediately following the hemiconvulsions;and then a third stage, characterized by the appearance of partial epileptic seizures. The causes of the initial convulsions inHHE syndrome are multiple but in many patients no cause in obvious. Neuroimaging studies demonstrate an ac...

  1. Mitochondrial deficiency in Cockayne syndrome.

    Science.gov (United States)

    Scheibye-Knudsen, Morten; Croteau, Deborah L; Bohr, Vilhelm A

    2013-01-01

    Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we discuss recent findings of mitochondrial pathology in Cockayne syndrome and suggest possible mechanisms for the mitochondrial dysfunction. Published by Elsevier Ireland Ltd.

  2. Mitochondrial deficiency in Cockayne syndrome

    OpenAIRE

    Scheibye-Knudsen, Morten; Croteau, Deborah L.; Bohr, Vilhelm A.

    2013-01-01

    Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we will discuss recent findings of mitochondrial pathology in Cockayne syndrome and suggest possible mechanisms for the mitochondrial dysfunction.

  3. A Case with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    Nehir Parlak

    2015-06-01

    Full Text Available Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome.

  4. Hereditary Predispositions to Myelodysplastic Syndrome

    OpenAIRE

    Sarah A. Bannon; Courtney D. DiNardo

    2016-01-01

    Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dysker...

  5. METABOLIC SYNDROME

    OpenAIRE

    Dikanović, Marinko

    2015-01-01

    Metabolic syndrome is a cluster of disorders that include hyperlipidemia, inadequate insulin resistance, hypertension, and abdominal type obesity. Patients who suffer from this syndrome have an increased risk for heart disease and blood vessel disease, stroke and type II diabetes. The world's leading healthcare institutions also disagree on the exact definition of this organization poremećaja. NCEP (National Cholesterol Education Program) defines metabolic syndrome as a situation in which the...

  6. [Caroli's syndrome].

    Science.gov (United States)

    Li, Ji; Qiu, Zheng-Qing; Wei, Min

    2009-01-01

    Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.

  7. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

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

  8. Crisponi/CISS1 syndrome

    DEFF Research Database (Denmark)

    AlHashem, Amal M; Majeed-Saidan, Muhammad Ali; Ammari, Amer N

    2016-01-01

    Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused...... unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). Another fifth previously...

  9. Troyer Syndrome

    Science.gov (United States)

    ... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...

  10. 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 ...

  11. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  12. Evaluation of MT1XT20 Single Quasi-Monomorphic Mononucleotide Marker for Characterizing Microsatellite Instability in Persian Lynch Syndrome Patients.

    Science.gov (United States)

    Farahani, Najmeh; Nikpou, Parvaneh; Emami, Mohammad Hassan; Hashemzadeh, Morteza; Zeinalian, Mehrdad; Shariatpanahi, Seyed Shervin; Salehi, Rasoul

    2016-01-01

    Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy. It is now recommended to perform MSI testing for all new cases of colorectal cancer regardless of being categorized as hereditary or sporadic. For MSI detection, immunohistochemistry or PCR-based protocols using a cohort of various sets of STR markers are recommended. Here we aimed to evaluate a simplified protocol using just a single STR marker, MT1XT20 mononucleotide repeat, for detection of MSI in Lynch syndrome patients. A Promega five-marker MSI testing panel and immunohistochemistry (IHC) were used as the gold standard in conjunction with MT1XT20. Colorectal patients with a positive history of familial cancers were selected by evaluating medical records. Based on Amsterdam II criteria for Lynch syndrome 20 families were short listed. DNA was extracted from formalin fixed paraffin embedded tumour and adjacent normal tissues resected from the index case in each family. Extracted DNA was subjected to MT1XT20 mononucleotide marker analysis and assessment with a commercially available five marker MSI testing kit (Promega, USA). IHC also was performed on tissue sections and the results were compared with PCR based data. Eight (40%), seven (35%) and five (25%) cases were MSI positive using with the Promega kit, IHC and MT1XT20, respectively. Among the markers included in Promega kit, BAT26 marker showed instability in all 8 samples. NR24 and NR21 markers showed instability in 7 (87.5%), and BAT25 and MONO 27 in 6 (75%) and 5 (62.5%). Although MT1XT20 was earlier reported as a valid standalone marker for MSI testing in CRC patients, we could not verify this in our Iranian patients. Instead BAT26 among the markers included in Promega MSI testing kit showed instability in all 8 MSI-H CRC samples. Therefore, it seems BAT26 could act well as a single marker for MSI testing in Iranian

  13. Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

    Science.gov (United States)

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2017-01-01

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

  14. Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13

    Energy Technology Data Exchange (ETDEWEB)

    Dittrich, B.; Knoblauch, H.; Buiting, K.; Horsthemke, B. (Universitaetsklinikum Essen (Germany))

    1993-04-01

    IR4-3R (D15S11) is an anonymous DNA sequence from human chromosome 15. Using YAC cloning and restriction enzyme analysis, the authors have found that IR4-3R detects five related DNA sequences, which are spread over 700 kb within the Prader-Willi/Angelman syndrome chromosome region in 15q11-q 13. The RsaI and StyI polymorphisms, which were described previously, are associated with the most proximal copy of IR4-3R and are in strong linkage disequilibrium. IR4-3R represents the third DNA sequence family that has been identified in 15q11-q13. 14 refs., 2 figs., 1 tab.

  15. Genetic and biological characterization of a Porcine Reproductive and Respiratory Syndrome Virus 2 (PRRSV-2)causing significant clinical disease in the field

    DEFF Research Database (Denmark)

    Kvisgaard, Lise Kirstine; Larsen, Lars Erik; Hjulsager, Charlotte Kristiane

    2017-01-01

    Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) is the cause of severe reproductive and respiratory disease in swine worldwide. In Denmark, both PRRSV-1 and PRRSV-2 are circulating and approximately 35% of pig herds are seropositive for PRRSV. In November 2010, a pig herd...... in the Northern part of Denmark experienced an infection with PRRSV-2 with clinical signs that were much more severe than normally reported from current Danish PRRSV-2 affected herds. Due to the clinical observations of reproductive failure in sows and high mortality in piglets, it was speculated that a new, more....... Virus shedding, acute phase protein responses and serological responses were comparable to those seen after experimental challenge with a Danish PRRSV-2 reference strain isolated in 1997. Vaccination with a commercial modified live PRRSV-2 vaccine had a clear reducing effect on virus shedding, magnitude...

  16. The Structural and Biochemical Characterization of Human RNase H2 Complex Reveals the Molecular Basis for Substrate Recognition and Aicardi-Goutières Syndrome Defects*

    Science.gov (United States)

    Figiel, Małgorzata; Chon, Hyongi; Cerritelli, Susana M.; Cybulska, Magdalena; Crouch, Robert J.; Nowotny, Marcin

    2011-01-01

    RNase H2 cleaves RNA sequences that are part of RNA/DNA hybrids or that are incorporated into DNA, thus, preventing genomic instability and the accumulation of aberrant nucleic acid, which in humans induces Aicardi-Goutières syndrome, a severe autoimmune disorder. The 3.1 Å crystal structure of human RNase H2 presented here allowed us to map the positions of all 29 mutations found in Aicardi-Goutières syndrome patients, several of which were not visible in the previously reported mouse RNase H2. We propose the possible effects of these mutations on the protein stability and function. Bacterial and eukaryotic RNases H2 differ in composition and substrate specificity. Bacterial RNases H2 are monomeric proteins and homologs of the eukaryotic RNases H2 catalytic subunit, which in addition possesses two accessory proteins. The eukaryotic RNase H2 heterotrimeric complex recognizes RNA/DNA hybrids and (5′)RNA-DNA(3′)/DNA junction hybrids as substrates with similar efficiency, whereas bacterial RNases H2 are highly specialized in the recognition of the (5′)RNA-DNA(3′) junction and very poorly cleave RNA/DNA hybrids in the presence of Mg2+ ions. Using the crystal structure of the Thermotoga maritima RNase H2-substrate complex, we modeled the human RNase H2-substrate complex and verified the model by mutational analysis. Our model indicates that the difference in substrate preference stems from the different position of the crucial tyrosine residue involved in substrate binding and recognition. PMID:21177858

  17. Complex regional pain syndrome

    OpenAIRE

    V. A. Koryachkin

    2011-01-01

    Complex regional pain syndrome (CRPS) previously known as reflex sympathetic dystrophy is a chronic neurological disorder involving the limbs characterized by disabling pain, swelling, vasomotor instability, sudomotor abnormality, and impairment of motor function. CRPS is not uncommon after hand surgery and may complicate post-operative care. There is no specific diagnostic test for CRPS and the diagnosis is based on history, clinical examination, and supportive laboratory findings. Recent mo...

  18. Unilateral proteus syndrome

    Directory of Open Access Journals (Sweden)

    Sarma Nilendu

    2005-03-01

    Full Text Available Proteus syndrome is a complex developmental abnormality. It is characterized by both hypertrophic and hypoplastic changes. Deformities have been occasionally found to be localized in one half of the body in head or digit but presence of all signs in one half of the body in a wide spread manner is not reported in the literature. We report the case for its unusual presentation of unilateral localization of signs.

  19. Bupropion for Blau syndrome.

    Science.gov (United States)

    Altschuler, Eric Lewin; Kast, Richard E

    2004-01-01

    Blau syndrome (BS) is an autosomal dominantly inherited disease characterized by granulomas and arthritis. The gene mutated in BS was recently found to be CARD15. Mutations in this gene also occur in about 20% of patients with Crohn's disease (CD), though with different mutations than in the Crohn's patients. We are not aware of any cure or specific treatment for BS. We have found that bupropion is effective for CD, and we now suggest that bupropion be considered for treatment of BS.

  20. Milwaukee shoulder syndrome

    OpenAIRE

    Somashekar SA

    2014-01-01

    Milwaukee shoulder syndrome or rapid destructive arthritis of the shoulder is a very rare rheumatological condition characterized by the deposition of hydroxyapatite crystals. The figure 1 shows the shoulder image of a 67-year-old female with a history of bilateral shoulder pain and swelling since 2 years and knee pain since 6 months. Physical examination revealed restriction in shoulder movements. No neurological deficit was reported. X-ray of the right shoulder indicated rotator cuff disrup...

  1. Milwaukee shoulder syndrome.

    Science.gov (United States)

    Dewachter, L; Aerts, P; Crevits, I; De Man, R

    2012-01-01

    Milwaukee shoulder syndrome or rapid destructive arthropathy of the shoulder is a rare form of arthropathy that mainly affects elderly women. It is characterized by a rapid destruction of the glenohumeral joint and the rotator cuff and by an important noninflammatory joint effusion containing hydroxyapatite crystals. Radiography plays an important role in the evaluation of patients with articular disease. However, magnetic resonance imaging is the method of choice for assessing the full extent of osseous, chondral, and soft-tissue involvement.

  2. A Rare Syndrome: Balint Syndrome

    OpenAIRE

    Gülnur Tekgöl Uzuner; Özge Keleş; Nevzat Uzuner

    2016-01-01

    Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual fie...

  3. Role for Genetic Anticipation in Lynch Syndrome

    DEFF Research Database (Denmark)

    Nilbert, Mef; Timshel, Susanne; Bernstein, Inge

    2009-01-01

    PURPOSE: Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in hereditary cancer is unclear. We assessed anticipation in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), in which DN...... to initiate surveillance programs at young age. It should also stimulate research into the genetic mechanisms that determine age at onset and whether the genetic instability that characterizes Lynch syndrome can be linked to anticipation....

  4. Gorlin-Goltz syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Satyaki Ganguly

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  5. Cotard and Capgras syndrome after ischemic stroke.

    Science.gov (United States)

    Sottile, Fabrizio; Bonanno, Lilla; Finzi, Giuseppina; Ascenti, Giorgio; Marino, Silvia; Bramanti, Placido; Corallo, Francesco

    2015-04-01

    Capgras and Cotard are delusional misidentification syndromes characterized by delusions about oneself, others, places, and objects. To date, there are few cases of comorbidity of both syndromes. We describe a case of aphasic stroke patient affected by cerebral ischemia localized in right temporoparietal region. The patient showed a typical clinical picture of delusional disorder attributable, through psychological assessment, to comorbidity of both Capgras and Cotard syndromes. Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  6. Complete Currarino Syndrome Recognized in Adulthood

    Directory of Open Access Journals (Sweden)

    Sinan Akay

    2015-01-01

    Full Text Available Currarino syndrome is a hereditary pathology that is characterized by sacrococcygeal bone defect, presacral mass, and anorectal malformation. Sacrococcygeal bone defect is almost always a part of the syndrome. The complete form of this entity displays all three abnormalities and is very uncommon. In this report, we present the magnetic resonance imaging findings of a case with complete form of Currarino syndrome recognized in adulthood.

  7. Oro-facial-digital syndrome type II.

    Science.gov (United States)

    Kalyan, Meenakshi; Kanitkar, S; John, Robby; Gireesh, G; Bhate, Amit; Mithun, M

    2012-10-01

    Oro-facial-digital syndrome type II (OFD-II) is characterized by frenulated tongue, midline cleft lip, high arched or cleft palate, micrognathia, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss, choroidal coloboma and normal intelligence. There are nine forms of oro-facial-digital syndromes with different modes of inheritance. A young female with features of oro-facio-digital syndrome type-II is being reported.

  8. [Mania associated with Usher syndrome type II].

    Science.gov (United States)

    Praharaj, Samir Kumar; Acharya, Mahima; Sarvanan, Arul; Kongasseri, Sreejayan; Behere, Rishikesh V; Sharma, P S V N

    2012-01-01

    Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by sensorineural deafness, retinitis pigmentosa, and variable vestibular deficit; Usher syndrome type II is the most common form. Various neuropsychiatric disorders have been reported to occur in those with Usher syndrome, including schizophrenia-like disorder, atypical psychosis, recurrent depressive illness, neurotic disorder, and mental retardation; however, bipolar disorder is not common in those with Usher syndrome. Herein we describe a 30-year-old male with Usher syndrome type II that developed features indicative of a probable manic episode. The patient had complete remission of symptoms in response to treatment with olanzapine 20 mg d-1. In persons with dual sensory impairment there are inherent problems with assessment and diagnosis is difficult due to their limited communication abilities. The diagnosis of Usher syndrome depends heavily on behavioral observation and disturbances in vegetative functions.

  9. Cockayne syndrome.

    Science.gov (United States)

    Levinson, E D; Zimmerman, A W; Grunnet, M L; Lewis, R A; Spackman, T J

    1982-12-01

    The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.

  10. 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....

  11. Kounis syndrome

    African Journals Online (AJOL)

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or nonvasospastic angina secondary ... to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral ... a likely diagnosis and blood was sent for.

  12. Cardiorenal syndrome

    OpenAIRE

    Schetz, Miet

    2009-01-01

    Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated in recent and ongoing clinical trials.

  13. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  14. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

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

  15. Marshall's syndrome*

    Science.gov (United States)

    Fontenelle, Elisa; de Almeida, Ana Paula Moura; Souza, Gabriela Maria Assis de Almeida

    2013-01-01

    Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment. PMID:23739715

  16. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. [CREST syndrome].

    Science.gov (United States)

    Meyer, Olivier

    2002-05-01

    CREST syndrome has been described as a form of progressive systemic sclerosis in which there is relatively limited involvement of the skin, prominence of calcinosis, Raynaud's phenomenon, esophageal dysfunction and telangiectasia. The acronym CREST was coined in 1964 by Winterbauer in the USA but the very first case report was by French physicians Thibierge and Weissenbach in 1910. Antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% of the cases. The prognosis of CREST syndrome is relatively good with a long lasting disease duration (>10 years). Two complications are seldom associated with CREST syndrome: digital gangrene with finger losses and pulmonary hypertension (3 to 14% of CREST syndrome). Pulmonary hypertension is a very late event and the prognosis is very severe (mortality rate of 50% after 2 years).

  18. A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.

    Science.gov (United States)

    Hong, Syuan-Yu; Chou, I-Ching; Lin, Wei-De; Tsai, Fuu-Jen

    2016-12-01

    Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report on a 4 y/o boy with PTHS and discuss its similarities and differences with Angelman syndrome. In doing so we hope to provide a feasible pathway to diagnose rare diseases, especially Angelman-like syndrome.

  19. Raeder syndrome: Paratrigeminal oculosympathetic syndrome presenting as a manifestation of chronic sinusitis.

    Science.gov (United States)

    Pritchett, Cedric V; Zacharek, Mark A

    2015-12-01

    Raeder syndrome (paratrigeminal oculosympathetic syndrome) is a rare clinical entity characterized by ipsilateral trigeminal sensory deficits, ptosis, and miosis, with an absence of anhidrosis secondary to interruption of the postganglionic oculosympathetic pathway. Going back to its original description, this constellation of physical examination findings has historically been associated with intracranial pathology involving the middle cranial fossa. Understanding this pathway is important in distinguishing Raeder syndrome from Horner syndrome, as the presentation of the former is now recognized to accompany a number of other disease entities in the head and neck region. We present an unusual case of Raeder syndrome associated with bacterial sinusitis, and we discuss its management and review the literature.

  20. Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2–q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2014-12-01

    Conclusion: Fetuses with Sotos syndrome may present macrocephaly, polyhydramnios, ventriculomegaly, and pyelectasis in the third trimester. aCGH and metaphase FISH are useful for rapid diagnosis of 5q35 microdeletion associated with Sotos syndrome.

  1. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

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

  2. Cotard syndrome with catatonia: Unique combination

    OpenAIRE

    Aniruddha Basu; Priti Singh; Rajiv Gupta; Sandeep Soni

    2013-01-01

    Cotard syndrome is a rare psychiatric condition characterized by extreme nihilistic delusions. Catatonia though common, its combination with the Cotard syndrome is exceeding rare and more so the response with the pharmacotherapy as in our case. Since, both are found in organic conditions the importance of studying such a case is to understand the underlying neurobiologic determinants.

  3. Cotard syndrome with catatonia: unique combination.

    Science.gov (United States)

    Basu, Aniruddha; Singh, Priti; Gupta, Rajiv; Soni, Sandeep

    2013-07-01

    Cotard syndrome is a rare psychiatric condition characterized by extreme nihilistic delusions. Catatonia though common, its combination with the Cotard syndrome is exceeding rare and more so the response with the pharmacotherapy as in our case. Since, both are found in organic conditions the importance of studying such a case is to understand the underlying neurobiologic determinants.

  4. Munchausen Syndrome by Proxy: Evaluation and Treatment.

    Science.gov (United States)

    Parnell, Teresa F.; Day, Deborah O.

    Munchausen Syndrome by Proxy (MSBP) is characterized by a significant caretaker, usually a mother, deliberately inducing and/or falsely reporting illness in a child. The potentially fatal outcome of undetected MSBP makes the understanding of this syndrome gravely important. Early detection and effective intervention can be accomplished through the…

  5. Floating-Harbor syndrome: case report.

    Science.gov (United States)

    Genc, G; Sarac, A; Erkek Atay, N; Kulali, F

    2008-04-01

    Floating-Harbor syndrome is a rare disorder which is clinically characterized by short stature, retarded speech development, delayed bone ages, triangular face, bulbous nose and thin lips. We described two cases with Floating-Harbor syndrome and briefly reviewed the relevant literature.

  6. Goldenhar Syndrome: A rare case report.

    Science.gov (United States)

    Bhuyan, Ruchi; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Nayak, Bikash Bishwadarshee

    2016-01-01

    Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face.

  7. Rett syndrome: a study of the face

    NARCIS (Netherlands)

    Allanson, Judith E.; Hennekam, Raoul C. M.; Moog, Ute; Smeets, Eric E.

    2011-01-01

    Rett syndrome is a unique disorder of neurodevelopment that is characterized by an evolving behavioral and developmental phenotype, which emerges after an apparently normal early infantile period. It almost exclusively affects females. The face of Rett syndrome is said to resemble that of Angelman

  8. Streptococcus pyogenes toxic-shock syndrome

    OpenAIRE

    Antunes, R.; Diogo, M; Carvalho, A.; Pimentel, T; Oliveira, J.

    2011-01-01

    Recently there has been an exponential increase in invasive infections caused by Streptococcus ß hemolyticcus group A. In about one third of cases they are complicated by toxic shock syndrome, characterized by septic shock and multiorgan failure. The authors, by their rarity, report a case of bacteraemia caused by Streptococcus pyogenes complicated by toxic shock syndrome.

  9. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

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

  10. Gorlin‑Goltz Syndrome | Mehta | Annals of Medical and Health ...

    African Journals Online (AJOL)

    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 ...

  11. Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine syndrome).

    Science.gov (United States)

    Succi, Isabella Brasil; Fontenelle, Elisa

    2009-01-01

    Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.

  12. Background and treatment of metabolic syndrome: a therapeutic challenge

    NARCIS (Netherlands)

    van Zwieten, Pieter A.; Mancia, Giuseppe

    2006-01-01

    Metabolic syndrome is characterized by a clustering of cardiovascular and metabolic risk factors. This syndrome is now widely recognized as a distinct pathologic entity. It is receiving a great deal of attention in the medical literature and also in the lay press. People with metabolic syndrome have

  13. [Hemophagocytic syndrome due to lung infection: a case report].

    Science.gov (United States)

    Korkmaz Ekren, Pervin; Ergin, Erhan; Göksel, Tuncay; Ozsan, Nazan; Hekimgil, Mine

    2011-01-01

    A 31-year-old man with pneumonia and ampiema was treated with antibiotics and drainage. Hemophagocytic syndrome, characterized with pancytopenia was arised during this treatment. Nosocomial infection due to pancytopenia was treated with antibiotics. Hemophagocytic syndrome was recovered spontaneously after the treatment of this nosocomial infection. Such a severe hemophagocytic syndrome due to infection is a rare condition.

  14. A rare cause of acromegaly: McCune-Albright syndrome

    Directory of Open Access Journals (Sweden)

    Erdal Bodakçi

    2015-06-01

    Full Text Available McCune-Albright syndrome is characterized by polyostatic fibrous dysplasia, brown spots on the skin (café au lait pigmentation and autonomous endocrine hyperfunction. Early puberty and other endocrinological manifestations, such as acromegaly, gigantism and hypercortisolism are widely observed in the syndrome. Acromegaly is seen in 20% of patients. We report a case of acromegaly accompanied with this syndrome.

  15. Treacher Collins Syndrome in Siblings - A Case Report

    Directory of Open Access Journals (Sweden)

    K S Ganapathy

    2007-01-01

    Full Text Available Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/ familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

  16. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

    DEFF Research Database (Denmark)

    Bygum, Anette; Westermark, Per; Brandrup, Flemming

    2008-01-01

    Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately aft...

  17. [Chronic fatigue syndrome in patients with vibration disease].

    Science.gov (United States)

    Kir'iakov, V A; Saarkoppel', L M; Krylova, I V; Sukhova, A V

    2013-01-01

    The article presents study results that demonstrate chronic fatigue syndrome in patients with vibration disease. Clinical manifestations of chronic fatigue syndrome are characterized by changes in the emotional-volitional and cognitive areas. Application of nootropic drug cortexin increases the efficiency of rehabilitation in patients with vibration disease with chronic fatigue syndrome.

  18. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

    DEFF Research Database (Denmark)

    Topsakal, Vedat; Hilgert, Nele; van Dinther, Joost

    2010-01-01

    Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting a...... reported DFNA22 families with mutations in the MYO6 gene have been studied and compared. It seems that genetic defects that spare the motor domain of the myosin VI protein have a milder phenotype....

  19. A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.

    Science.gov (United States)

    Córdova-Fletes, C; Domínguez, M G; Vázquez-Cárdenas, A; Figuera, L E; Neira, V A; Rojas-Martínez, A; Ortiz-López, R

    2012-09-01

    Cat-eye syndrome (CES) results from trisomy or tetrasomy of proximal 22q originated by a small supernumerary marker chromosome (sSMC). Two critical regions for the major clinical features of CES (CESCRs) have been suggested; however, CES clinical presentation often does not correlate with the sSMC genetic content. We report here a CES girl without coloboma and carrier of a de novo type I sSMC(22) as determined by G- and C-banding, NOR staining and microarrays. This sSMC included 6 distal genes outside the original CESCR and led to a tetrasomy for 22q11.1-22q11.21. The patient's final karyotype was 47,XX,+psu dic(22)(q11.21).arr 22q11.1q11.21(15,250,000-17,035,860)×4 dn. The amplified region outside of CESCR included some genes that may be related to neurologic, heart and renal abnormalities. Conversely, even though the amplification included the CECR2 gene, a major candidate for eye features, there was no coloboma in the patient. The genetic delineation of the present sSMC further strengthens that the CES clinical presentation does not fit completely with the duplicated genetic content and that CES is actually a genomic disorder. Furthermore, since we observed no mosaicism, we believe that other mechanisms might be behind the variability of CES phenotypes as well, mainly those related with functional interactions among amplified genes.

  20. Characterizing sudden death and dead-in-bed syndrome in Type 1 diabetes: analysis from two childhood-onset Type 1 diabetes registries.

    Science.gov (United States)

    Secrest, A M; Becker, D J; Kelsey, S F; Laporte, R E; Orchard, T J

    2011-03-01

    Type 1 diabetes mellitus increases the risk for sudden unexplained death, generating concern that diabetes processes and/or treatments underlie these deaths. Young (dead in bed have been classified as experiencing 'dead-in-bed' syndrome. We thus identified all unwitnessed deaths in two related registries (the Children's Hospital of Pittsburgh and Allegheny County) yielding 1319 persons with childhood-onset (age dead-in-bed criteria. The Mortality Classification Committee adjudicated cause of death in the seven dead-in-bed persons as: diabetic coma (n =4), unknown (n=2) and cardiomyopathy (n=1, found on autopsy). The three dead-in-bed individuals who participated in a clinical study had higher HbA(1c) , lower BMI and higher daily insulin dose compared with both those dying from other causes and those surviving. Sudden unexplained death in Type 1 diabetes seems to be increased 10-fold and associated with male sex, while dead-in-bed individuals have a high HbA(1c) and insulin dose and low BMI. Although sample size is too small for definitive conclusions, these results suggest specific sex and metabolic factors predispose to sudden unexplained death and dead-in-bed death. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.