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Sample records for aplasia cutis congenita

  1. Aplasia Cutis Congenita: a Case Report

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    Tahereh Esmaeilnia Shirvany

    2009-06-01

    Full Text Available Background:Aplasia cutis congenital (ACC is a congenital absence of skin most commonly affecting the scalp. No definite etiology is available but multiple causes such as intrauterine infection, fetal exposure to cocaine, heroin, alcohol or antithyroid drugs, vascular disruption, genetic causes, syndromes and teratogens have been suggested. Case Presentation: We present an infant with symmetrical type of aplasia cutis on the trunk and proximal limbs. She was product of triple pregnancy with two fetuses papyraceous at 12th week of gestational age and at birth. She is treated by non surgical management despite remarkable extent of the lesion.Conclusion:ACC of the trunk is less common than of scalp. Lesion often is symmetric and seen after fetus papyraceous in multiple pregnancies.

  2. Aplasia cutis congenita of the scalp: Therapeutic modalities

    OpenAIRE

    Shivakumar S; Dwarakanath S; Swaroop Gopal; Venkataramana N

    2006-01-01

    Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC) is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes the calvarium and/or dura. We present a case of ACC in an infant whose mother was exposed to a teratogenic drug (Methimazole - an antithyroid drug) during pregnanc...

  3. Aplasia cutis congenita of the scalp: Therapeutic modalities

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    Shivakumar S

    2006-01-01

    Full Text Available Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes the calvarium and/or dura. We present a case of ACC in an infant whose mother was exposed to a teratogenic drug (Methimazole - an antithyroid drug during pregnancy. This case report is presented to highlight the steps to successful management. Definitive full thickness scalp cover at the earliest avoids secondary infection, eschar formation and exsanguination.

  4. Genetics Home Reference: nonsyndromic aplasia cutis congenita

    Science.gov (United States)

    ... round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they ... pregnant mother can cause the baby to be born with the skin lesions characteristic of nonsyndromic aplasia ...

  5. APLASIA CUTIS CONGENITA SCALP PRESENTING WITH LIFE THREATENING HEMORRHAGE: A CASE REPORT

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    Farrukh Mahmood

    2012-01-01

    Full Text Available Aplasia cutis congenita is a rare congenital anomaly characterized by the absence of a patch of skin since birth. It may lead to life threatening complications at times. A 5-day-old neonate with Aplasia cutis congenita was received in a state of shock due to tremendous blood loss from the superior sagittal sinus. The neonate was resuscitated immediately followed by closure of the superior sagittal sinus and flap coverage to the defect as a life saving procedure.

  6. The role of diclofenack on inducing of aplasia cutis congenita: a case report

    OpenAIRE

    Pajaziti, Laura; Rexhepi, Syzana; Shatri-Muça, Ylfete; Ferizi, Mybera

    2009-01-01

    Background Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. It is a rare condition with no particular race or sex more at risk. May occur by itself or be associated with other physical syndromes or disorders. A classification system exists for aplasia cutis congenital consisting of 9 groups, based on the number and location of the skin defects and the presence or absence of other malformations. Causes of aplasia congenital could be heredity, tera...

  7. Extensa falha cutânea e craniana em paciente com aplasia cutis congenita Large scalp and skull defect in patient with aplasia cutis congenita

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    José Gilberto de Brito Henriques

    2004-12-01

    Full Text Available Aplasia cutis congenita (ACC é doença rara, caracterizada pela ausência de formação completa da pele. Geralmente ocorre no couro cabeludo, na linha mediana, e apresenta-se ao nascimento como uma ferida ulcerada que pode atingir diferentes profundidades e envolver o periósteo, crânio e dura-máter. Descrevemos o caso de menina recem-nascida que apresentava fácies dismórfica com defeito no couro cabeludo que abrangia a quase totalidade da abóbada craniana e apresentava falha óssea desde a base dos ossos frontais até os occipitais e mastóides. A dura-máter estava em sua maior parte exposta, sem sinais de fissuras. Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura a padronização do tratamento ainda é incipiente. O que existem são recomendações. Ainda são necessários estudos que abordem desde a etiologia da doença até a avaliação dos métodos de tratamento e evolução de grupos maiores de pacientes.Aplasia cutis congenita is a rare condition characterized by the absence of skin layers. It is most common on the scalp, middle line, and it can be seen as a congenital ulcer involving periosteum, skull and dura. We present the case of a female newborn infant with a dysmorphic facies, a large scalp and skull defect exposing the dura. There was no cerebrospinal fluid leakage. The rarity of cases with large defects and small series reported make difficult to determinate the ideal treatment for aplasia cutis congenita. More studies are necessary to define the etiology and best management of this patients.

  8. Aplasia cutis congenita of the scalp with large underlying skull defect: a case report

    International Nuclear Information System (INIS)

    Localised agenesis of the scalp is the most frequent patern in aplasia cutis congenita (ACC), a congenital absence of the skin and occasionally of deeper layers. Several clinical groups are characterised by the location and pattern of skin defects, associated malformations and the mode of inheritance. Death occurs in 20 % of cases, secondary to the associated anomalies, to infections or to haemorrhage from ulceration of the sagittal sinus when there is also a defect of the underlying skull. In this latter case, we close the defect by two rotational scalp flaps (Orticochea technique) at birth. A three-dimensional CT study is useful for showing the extent of the skull defect and the deformity of the craniofacial complex and the changes in the bone after treatment. (orig.)

  9. A rare presentation of aplasia cutis congenita after feto-reduction in a trichorionic-triamniotic pregnancy.

    Science.gov (United States)

    Vettori, D J; Jairath, P

    2015-01-01

    Aplasia cutis congenita (ACC) is rare skin disorder of newborns that has been linked to both assisted reproductive technology (ART) and feto-reduction procedures. ACC is characterized by well-demarcated lesions that are devoid of all skin layers. Group-V ACC presents with a distinctive and symmetrical distribution pattern. It is thought to result from an insult to the fetus after concomitant twin demise and is almost exclusively reported in monochorionic gestations.A 41-year-old female with an in vitro fertilization (IVF) assisted tri-chorionic gestation subsequently underwent selective feto-reduction of Fetus C. The patient delivered two pre-term neonates secondary to pre-eclampsia. The initial exam of Twin B showed extensive, well-demarcated, symmetrical areas devoid of any skin over the anterior and lateral trunk, extending up the lateral thoracic walls. Chest and abdominal viscera were visible through a thin fibrous membrane. The skin defects were managed conservatively with twice-daily dressings of Aquaphor, and Vaseline gauze. The areas of aplasia slowly contracted, though residual scarring was noted. After four weeks in the NICU, most of the areas were healed.ACC in multi-fetal pregnancies is a rare, but well-described complication. This is, to our knowledge, the first reported case in a tri-chorionic IVF gestation after feto-reduction. With increased incidence of ART-associated pregnancies and the use of feto-reduction for higher order gestations, this may become more common. Neonates often require specialized intensive care. Conservative management usually will suffice, although surgical grafting may be required. Physicians should be aware of this condition and counsel their feto-reduction patients of the risk. PMID:26485557

  10. Aplasia cutis congenita in a setting of fetus papyraceus associated with small fetal abdominal circumference and high alpha-fetoprotein and amniotic acetylcholinesterase.

    Science.gov (United States)

    Mazza, Joni M; Klein, Janice F; Christopher, Kurt; Silverberg, Nanette B

    2015-01-01

    Fetus papyraceus is the fetal death of one or more fetuses in a multiparous pregnancy. The surviving infants can experience extensive aplasia cutis in an H-shaped distribution over the flanks and abdomen as a consequence of the loss of their fetal sibling. We report the case of a monochorionic, diamniotic pregnancy complicated by a single fetal death at 13 weeks of gestational age. Aplasia cutis of the surviving twin was suggested in utero by three criteria: high amniotic and maternal alpha-fetoprotein, detectable acetylcholinesterase, and small abdominal circumference on prenatal ultrasound. This constellation of findings in the setting of fetus papyraceus can be an indicator of aplasia cutis in the surviving fetus. PMID:24118049

  11. APLASIA CUTIS CONGENITAL WITH AMNIOTIC BAND DISRUPTION COMPLEX: A RARE CASE REPORT

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    Pradipprava

    2015-09-01

    Full Text Available Aplasia cutis congenita (ACC is congenital absence of skin, most commonly affecting scalp. Etiology is multifactorial like intrauterine infection, teratogens, vascular causes, genetic syndromes etc. We here represent an infant with ACC involving extremities and associated with amniotic band disruption complex. He was treated conservatively and discharged.

  12. Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

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    C. De Maio

    2014-08-01

    Full Text Available Cutis Marmorata Telangiectatica Congenita (CMTC is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia. We report a preterm female newborn, the third child of non-related caucasian parents, with CMTC at birth who showed typical cutaneous features and monolateral congenital glaucoma. The pathogenesis of this disorder is unknown and the cause is probably multifactorial. Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiological factors. Prognosis, in uncomplicated cases, is good.

  13. Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions Lúpus cutâneo neonatal com lesões semelhantes à cutis marmorata telangiectatica congênita

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    Flávia Trevisan

    2013-06-01

    Full Text Available Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atrophy and photosensitivy, clinically and histologically similar to subacute cutaneous lupus. However, in some cases, the lesions may resemble those in cutis marmorata telangiectatica congenita, although this phenomenon is rare and only eight such cases have been reported to date. We report a case of cutaneous neonatal lupus with atypical lesions on the limbs, which had a reddish-purple marbled appearance, resembling the lesions in cutis marmorata telangiectatica congenita.Lúpus neonatal é uma doença rara causada pela transferência de auto-anticorpos maternos para o feto, caracterizada por manifestações clínicas transitórias como cutâneas, hematológicas e hepatobiliares, ou permanentes como o bloqueio cardíaco congênito. As manifestações cutâneas típicas incluem lesões fotossensíveis descamativas, anulares ou arqueadas na face, com discreta atrofia central, clinica e histopatologicamente similares ao lúpus cutâneo subagudo. Entretanto, em alguns casos, as lesões podem lembrar aquelas da cutis marmorata telangiectatica congênita, mas esse fenômeno é raro e somente oito casos foram reportados até hoje. Nós relatamos aqui um caso de lúpus cutâneo neonatal com lesões atípicas nos membros de cor vermelho-purpúricas e aparência marmórea, semelhantes às lesões da cutis marmorata telangiectatica congênita.

  14. Lymphocytoma Cutis

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    Gangopadhyay DN

    1999-01-01

    Full Text Available Lymphocytoma cutis, a type of pseudolymphoma, is a rare disorder with distinct clinical and histopathological features. A female patient presented with an asymptomatic, indolent dull erythematous, slowly progressive, firm nodular lesion of more than five years duration on right side of face diagnosed histopathologically as lymphocytoma cutis. The lesion showed no tendency to self- healing in more than five years duration and did not respond to chloroquin or to systemic and topical steroids.

  15. Leukemia cutis

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    Angoori G Rao

    2012-01-01

    Full Text Available Leukemia cutis is the infiltration of neoplastic leukocytes or their precursors into the epidermis, the dermis, or the subcutis, resulting in clinically identifiable cutaneous lesions. Leukemia cutis may follow, precede or occur concomitantly with the diagnosis of systemic leukemia. A 50-year-old woman presented with asymptomatic multiple cutaneous nodules all over the body of 4 months duration. Cutaneous examination showed multiple hyperpigmented nodules and plaques involving face, trunk, and extremities. Peripheral smear showed abnormally elevated leucocyte count (TLC-70,000 with abnormal cells: myeloblasts 40%, promyelocytes 8% and myelocytes 39%. Auer rods were present in few myeloblasts. Bone marrow aspiration showed increased cellularity, erythroid hyperplasia with megaloblastic change, increased myeloblasts with maturation arrest. Immunohistochemistry showed strongly positive myeloperoxidase infiltrating cells and negative for CD20 and CD3 consistent with the diagnosis of AML-M 2 with leukemia cutis. This case is reported for its rarity.

  16. Atrichia congenita

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    Chandraprakash Chouhan

    2015-01-01

    Full Text Available Atrichia congenita is a rare genodermatoses is characterized by a mutation of the human hairless (HR gene on chromosome 8p22. There is loss of scalp hair between one to six months of age, after which no growth occurs. Eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs. The condition may present in isolation or along with other defects.

  17. Atrichia congenita

    OpenAIRE

    Chandraprakash Chouhan; Rajeev Khullar; Pankaj Rao; Ramesh Raidas

    2015-01-01

    Atrichia congenita is a rare genodermatoses is characterized by a mutation of the human hairless (HR) gene on chromosome 8p22. There is loss of scalp hair between one to six months of age, after which no growth occurs. Eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs. The condition may present in isolation or along with other defects.

  18. Atrichia congenita.

    Science.gov (United States)

    Chouhan, Chandraprakash; Khullar, Rajeev; Rao, Pankaj; Raidas, Ramesh

    2015-01-01

    Atrichia congenita is a rare genodermatoses is characterized by a mutation of the human hairless (HR) gene on chromosome 8p22. There is loss of scalp hair between one to six months of age, after which no growth occurs. Eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs. The condition may present in isolation or along with other defects. PMID:26500870

  19. Leukemia cutis

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    Varuna Mallya

    2015-01-01

    Full Text Available Patients with leukemia may show involvement of the skin. This skin involvement can be due to infiltration of skin by leukemic cells or it may be a part of nonspecific cutaneous manifestations. Leukemia cutis is the infiltration of neoplastic leucocytes or their precursors into the skin resulting in extensive clinical manifestations. Described mostly in acute myeloid leukemia and acute myelocytic monocytic leukemia, it is rare in chronic myeloid leukemia and is seen mostly during the blast crises. Its presence signals poor prognosis.

  20. Metabolic cutis laxa syndromes

    NARCIS (Netherlands)

    Mohamed, M.; Kouwenberg, D.; Gardeitchik, T.; Kornak, U.; Wevers, R.A.; Morava, E.

    2011-01-01

    Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms of cutis laxa, howe

  1. Genetics Home Reference: pachyonychia congenita

    Science.gov (United States)

    ... with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10. ... molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10. ...

  2. Cysticercosis cellulose cutis

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    Inamadar Arun

    2001-01-01

    Full Text Available A woman aged 30 years with solitary lesion of cysticercosis cellulose cutis is reported. Cutaneous cysticerci are often a pointer to the involvement of internal organs. Our patient was a pure vegetarian so, probable mode of infection may be ingestion of contaminated vegetables, where the practice of using pig feces as manure is prevalent.

  3. Genetics Home Reference: cutis laxa

    Science.gov (United States)

    ... linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is ... body . In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium ...

  4. Vermian aplasia and hypoplasia

    International Nuclear Information System (INIS)

    This paper reports vermian aplasia or hypoplasia unrelated to Dandy-Walker complex or Joubert syndrome. Vermian hypoplasia is most commonly associated with the malformations of Dandy-Walker cyst or variant. There have been few reports of familial vermian anomaly (Joubert syndrome) with episodes of polypnea and apnea. Five patients with vermian hypoplasia or absence were prospectively discovered among 1,130 children undergoing brain MR imaging. Ages ranged from 2 mo to 15 y at the time of discovery: The abnormalities were poorly defined in three patients who had previously undergone CT. There was no common link in these patients with a variable number of other systemic, brain, or facial abnormalities. No unifying symptoms were identified. Two patients had the MR imaging appearance of Joubert syndrome, but none had the cyclical respiratory symptoms usually associated with this syndrome

  5. Radiological Findings of Michel Aplasia

    Science.gov (United States)

    Umul, Ayse; Demirtas, Hakan; Celik, Ahmet Orhan

    2016-01-01

    Introduction: Congenital abnormalities of the inner ear is the most common cause of neurosensory hearing loss. Michel inner ear deformity is a rare developmental anomaly refers to the total aplasia of the inner ear. It is caused by developmental arrest of otic placode early during the third week of gestational age. Case report: We have discussed here that three year old girl diagnosed Michel aplasia with temporal bone computed tomography (CT) and temporal magnetic resonance imaging (MRI) findings. PMID:27482139

  6. Chilblain-like leukaemia cutis.

    Science.gov (United States)

    Tran, Chi; McEwen, Gary; Fraga, Garth Robert

    2016-01-01

    Chilblain, also known as pernio, is an abnormal inflammatory response to cold, moist environmental conditions. Persistent or atypical lesions should prompt investigation to exclude underlying systemic illness. We describe a case of acute myeloid leukaemia that presented with chilblain-like leukaemia cutis. PMID:27095810

  7. Leishmaniasis cutis:report of two cases

    Institute of Scientific and Technical Information of China (English)

    XU Ke-jian; LIU Yue-hua; FANG Kai

    2005-01-01

    @@ Leishmaniasis cutis is a chronic dermatosis resulting from infestation by Leishmania of the skin.The diagnosis could not be established until a biopsy specimen revealed Leishman-Donovan(LD)bodies.We report two cases of leishmaniasis cutis diagnosed and treated recently in our department.

  8. Leukemia cutis with lymphoglandular bodies: a clue to acute lymphoblastic leukemia cutis

    OpenAIRE

    Obiozor, Cynthia; Ganguly, Siddhartha; Fraga, Garth R.

    2015-01-01

    Leukemia cutis describes cutaneous lesions produced by infiltrates of leukemic cells. It usually manifests contemporaneously with the initial diagnosis of systemic leukemia, but may also precede or follow systemic leukemia. Most cases are associated with acute myeloid leukemia. Adult B-cell lymphoblastic leukemia cutis is very rare. We report a 59-year-old woman with a history of B-cell acute lymphoblastic leukemia who relapsed with aleukemic lymphoblastic leukemia cutis. Lymphoglandular bodi...

  9. Pure red cell aplasia and associated thymoma

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    Cristian Rosu

    2011-04-01

    Full Text Available Pure red cell aplasia is a rare cause of anemia, caused by an absence of red blood cell precursors in the bone marrow. It is usually a paraneoplastic syndrome, associated most commonly with large-cell granular lymphocyte leukemia but also thymoma. For patients who present both pure red cell aplasia and thymoma, thymectomy leads to an initial remission of the aplasia in 30% of cases. However, sustained remission may require the addition of medications such as corticosteroids, cyclospo­rine, or cyclophosphamide. We present a case of pure red cell aplasia associated with a thymoma in an otherwise healthy 80 year-old woman.

  10. Lupus vulgaris with tuberculosis verrucosa cutis

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    Prasad PVS

    1994-01-01

    Full Text Available 26 years old male presented with two large plaques of lupus vulgaris and a lesion of tuberculosis verrucosa cutis on the right thigh and foot, respectively. Both the lesions were confirmed by histopathological examinations.

  11. Lupus vulgaris with tuberculosis verrucosa cutis

    OpenAIRE

    Prasad PVS; Padmavathy L; Kumar Prasanna; Rao L

    1994-01-01

    26 years old male presented with two large plaques of lupus vulgaris and a lesion of tuberculosis verrucosa cutis on the right thigh and foot, respectively. Both the lesions were confirmed by histopathological examinations.

  12. Pembuatan Sistem Informasi Cuti pada Kantor Pelayanan Perbendaharaan Negara dengan Menggunakan PHP dan MySQL

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    Arif Setiyanto

    2013-09-01

    Full Text Available Proses pengelolaan cuti pada Kantor Pelayanan Perbendaharaan Negara (KPPN pada saat ini masih dilakukan secara manual. Pengecekan  sisa cuti, pengajuan cuti, dan persetujuan cuti dilakukan secara berjenjang dan masih mengandalkan kartu cuti yang terdapat pada masing-masing data arsip pegawai.Proses pengelolaan cuti tersebut memiliki beberapa kelemahan. Pegawai tidak bisa mengetahui sisa hak cuti pribadi dan pengambilan cuti oleh rekan kerja secara langsung, sehingga pegawai tidak bisa melakukan manajemen cuti dengan baik. Pimpinan juga belum dapat mengambil keputusan cuti berdasarkan prinsip pemerataan hak cuti pegawai. Kelemahan yang lain adalah proses pengurusan cuti pegawai kurang efektif dan efisien. Pada penelitian ini, diusulkan pembuatan sistem informasicuti berbasis web dengan menggunakan bahasa pemrograman PHP(PHP Hypertext Preprocessor dan basis data MySQL. Aplikasi tersebut diharapkan mampu menyelesaikan permasalahan yang ditemui dalam pengelolaan cuti secara manual pada KPPN.

  13. Severe calcinosis cutis in an infant

    International Nuclear Information System (INIS)

    We report on an infant with severe asphyxia and persistent pulmonary hypertension as a newborn. The baby received prolonged intravenous calcium gluconate therapy for hypocalcemia. At 5 weeks of age, multiple firm, indurated areas (armor-like lesions) were palpable in the subcutaneous tissues of the trunk, arms, legs, and face, particularly in skin folds. Roentgenographic study showed generalized soft-tissue calcifications throughout the body, extremities, and face. Calcinosis cutis occurs through a variety of pathogenetic mechanisms. Case reports on calcinosis cutis in infants are uncommon, and the calcifications are mostly localized. In our patient, they are generalized. (orig.)

  14. Severe calcinosis cutis in an infant

    Energy Technology Data Exchange (ETDEWEB)

    Puvabanditsin, Surasak; Patel, Jigneshkumar B. [University of Medicine and Dentistry of New Jersey, Department of Pediatrics, Newark, NJ (United States); University of Medicine and Dentistry of New Jersey, Department of Surgery, Newark, NJ (United States); Garrow, Eugene; Titapiwatanakun, Ruetima; Getachew, Rahel [University of Medicine and Dentistry of New Jersey, Department of Pediatrics, Newark, NJ (United States)

    2005-05-01

    We report on an infant with severe asphyxia and persistent pulmonary hypertension as a newborn. The baby received prolonged intravenous calcium gluconate therapy for hypocalcemia. At 5 weeks of age, multiple firm, indurated areas (armor-like lesions) were palpable in the subcutaneous tissues of the trunk, arms, legs, and face, particularly in skin folds. Roentgenographic study showed generalized soft-tissue calcifications throughout the body, extremities, and face. Calcinosis cutis occurs through a variety of pathogenetic mechanisms. Case reports on calcinosis cutis in infants are uncommon, and the calcifications are mostly localized. In our patient, they are generalized. (orig.)

  15. Aplasia of major pectoral muscle combined with renal aplasia and cystic malformation of common iliac vein

    DEFF Research Database (Denmark)

    Qvist, N; Nielsen, K; Christensen, P V

    1987-01-01

    We report a case of an eighteen-year-old male with combined aplasia of the major pectoral muscle, renal aplasia, and malformation of the common iliac vein. The possibility of a common genesis is discussed on the basis of embryology....

  16. Leiomyoma cutis - A report of 3 cases

    OpenAIRE

    Prasad PVS; Padmavathy L; Prasanna K; Lakshmana Rao L

    1992-01-01

    A report of 3 women with painful and tender papules and plaques on the breast is presented here. In addition to the involvement of the skin over the breast, 2 patients also had skin lesions on the thigh and back. The histopathology was consistent with Leiomyoma cutis. Two patients responded well to Nifedipine.

  17. Leiomyoma cutis - A report of 3 cases

    Directory of Open Access Journals (Sweden)

    Prasad PVS

    1992-01-01

    Full Text Available A report of 3 women with painful and tender papules and plaques on the breast is presented here. In addition to the involvement of the skin over the breast, 2 patients also had skin lesions on the thigh and back. The histopathology was consistent with Leiomyoma cutis. Two patients responded well to Nifedipine.

  18. A Case of Congenital Cutis Laxa (Generalized Elastolysis

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    Paul Champion

    2005-01-01

    Full Text Available Cutis laxa (generalized elastolysis is characterized by sagging folds of loose skin on the face and trunk. Although grouped with hyperelastic skin conditions such as Ehlers-Danlos syndrome, cutis laxa shows an almost total lack of skin elasticity. Because it is a generalized state, it may present as an abnormality in the connective tissue of more than one organ system. The authors report a patient who had end-stage renal failure related to heavy chain disease, a recognized association of cutis laxa. Although the patient’s vascular abnormalities were significant, she died of respiratory failure at 41 years of age from cutis laxa-induced emphysema.

  19. Ectrodactyly with fibular aplasia : A separate entity?

    NARCIS (Netherlands)

    Menke, Leonie A.; Bijlsma, Emilia K.; van Essen, Anthonie J.; van den Boogaard, Marie-Jose H.; van Rijn, Rick R.; Cobben, Jan Maarten

    2008-01-01

    E/FA is the combination of ectrodactyly (split hand/foot malformation, SHFM) and fibular aplasia. It is a rare disorder considered to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression. In order to determine recurrence risks for the two patients we describe

  20. Acquired Localized Cutis Laxa due to Increased Elastin Turnover

    DEFF Research Database (Denmark)

    Nygaard, Rie Harboe; Maynard, Scott; Schjerling, Peter;

    2016-01-01

    Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obt...

  1. Dyskeratosis Congenita: A Report of Two Cases

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    Anila Karunakaran

    2013-01-01

    Full Text Available Oral manifestations play an important role in the diagnosis of many systemic conditions. Dyskeratosis congenita (DC is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features. DC has increased risk of developing constitutional anemias and malignancies and early diagnosis enables the patient to be monitored and proper interventional therapy to be instituted. Hence, dentists need to be aware of the various manifestations of this fatal syndrome. Only few cases have been reported on DC in the dental literature. Two cases of DC are reported here with a brief review of the literature.

  2. Cutis Verticis Gyrata – A Case Report

    OpenAIRE

    Jasna Zeljko-Penavić; Dubravka Šimić; Kristina Jurišić; Anita Gunarić

    2016-01-01

    Cutis verticis gyrata (CVG) is a skin condition characterized by excessive growth of the skin of the scalp, resulting in furrows and folds which are similar to the gyri of the brain cortex. CVG can be classified into two forms: primary (essential and non-essential) and secondary. We report the case of a 53-year-old male patient with the primary type of CVG. The patient did not present with any cutaneous complication. His main complaint was the unaesthetic aspect of his scalp related to a psyc...

  3. Borrelial lymphocytoma cutis: A diagnostic dilemma

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    Rajat Kandhari

    2014-01-01

    Full Text Available Lymphocytoma cutis (LC is one of the most common types of cutaneous B cell pseudolymphoma. Borrelial LC occurs most commonly in areas endemic for Ixodes ricinus tick in Europe, and it is rare in North America. The disease is rarely seen in India and may cause diagnostic difficulties for dermatologist residing in parts of the world that are not endemic for Lyme disease. The diagnosis is critical as LC may present as the only early manifestation of Lyme disease. Herein, we have presented a case of borrelial LC in an 11-year-old boy of German descent, residing in India.

  4. Osteoma cutis: informe de un caso

    Directory of Open Access Journals (Sweden)

    Pedro Sarmiento

    2009-11-01

    Full Text Available The purpose of this comunication is to share the experience with a case of osteoma cutis in a 46 years old woman who requested odontological treatment at the dental clinic of the Universidad del Valle. The periapical radiographic image of the superior molar zone showed multiple radiopaque bilateral rounded bodies of approximately 2 mm in diameter. The case was further studied and analyzed at the radiological section of the school. It was characterized as a non-frequent radiological finding. This unusual finding motivated a detailed review and the use of other diagnostic tools, such as clinical and histopathological tests that established the final diagnosis.

  5. Pure white cell aplasia in a dog.

    Science.gov (United States)

    Weiss, Douglas J; Henson, Michael

    2007-12-01

    A 3-year-old Irish Wolfhound was evaluated because of acute onset of lethargy and fever. Severe neutropenia (0/microL; reference interval 2500-11,200/microL) was associated with granulocyte aplasia in the bone marrow (myeloid:erythroid ratio, 0.009:1). Antineutrophil antibodies were assessed by an indirect immunofluorescence assay using flow cytometry. When normal canine leukocytes were incubated with the patient's serum and anti-IgG, a marked shift was observed in the forward-angle light scatter of the neutrophil population, and the monocyte cluster disappeared, possibly the result of fragmentation or lysis. Both neutrophil fluorescence intensity (309 +/- 11 median channel units [MCU], control values 107-152 MCU) and the percentage of neutrophils with increased fluorescence intensity (61 +/- 5%, control values 3.8-13.7%) were increased in the patient's serum, consistent with the presence of antineutrophil antibodies. Repeated episodes of neutropenia occurred while treatment with steroidal and nonsteroidal immunosuppressive therapy was initiated and modified. The neutrophil count eventually stabilized in the low-normal range, and the dog was maintained for the next 15 months on prednisone (0.4 mg/kg PO q 48 h) and azathioprine (2 mg/kg daily). During this period, the dog developed immune-mediated hemolytic anemia and thrombocytopenia, decubital ulcers, nasal aspergillosis, and eventually, multi-organ septicemia, which led to euthanasia on day 784. A diagnosis of pure white cell aplasia was made in this dog, based on the many similarities to human patients with pure white cell aplasia, including severe neutropenia with selective granulocyte aplasia, serum antineutrophil antibodies, remission dependent on treatment with immunosuppressive therapy, and recurrent bacterial infections. PMID:18041706

  6. Amyoplasia Congenita of the Lower Extremity: Report in a Premature Baby

    OpenAIRE

    Lee, Hyeon-Soo

    2005-01-01

    Amyoplasia congenita is a diagnostic subgroup of children with arthrogryposis multiplex congenita (AMC). AMC is a relatively rare syndrome characterized by multiple joint contractures at birth. Amyoplasia congenita is the most common type of this syndrome with an occurrence rate of 1 in 10,000 live births, and mainly refers to the disorders with limb involvement. In this report, the author presents a premature baby with amyoplasia congenita, whose hips showed flexion, abduction, and external ...

  7. Characterization of a group unrelated patients with arthrogryposis multiplex congenita

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    Margarita Valdés-Flores

    2016-02-01

    Full Text Available ABSTRACT OBJECTIVE: Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS: Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULTS: Of the 50 cases, nine presented other features (pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.. Environmental factors, as well as prenatal and family history, were analyzed. The chromosomal anomalies and clinical entities associated with arthrogryposis multiplex congenita were reported. No chromosomal aberrations were present in the cases with mental retardation. Three unrelated familial cases with arthrogryposis multiplex congenita were observed in which autosomal recessive, autosomal dominant and X-linked inheritance patterns are possible. A literature review regarding arthrogryposis multiplex congenita was also conducted. CONCLUSIONS: It is important to establish patient-specific physical therapy and rehabilitation programs. A multidisciplinary approach is necessary, with medical, surgical, rehabilitation, social and psychological care, including genetic counseling.

  8. Pulmonary Aplasia in an Adult : A Case Report

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    Nurettin Yiyit

    2016-01-01

    Full Text Available Pulmonary aplasia is a rare congenital anomaly in which there are absence of pulmonary vessels, bronchus and parenchyma. It is distinguished from pulmonary agenesis by the presence of rudimentary stump bronchus. Patients are usually diagnosed in childhood. Patients without additional anomaly and the patients with mild disease can be diagnosed in adulthood. The left lung was not observed at the chest X-ray of 19-year-old male patient with respiratory distress in exercise. Left lung aplasia was diagnosed by computed tomography and ventilation perfusion scintigraphy. The patients with lung aplasia have an increased risk of infections. Therefore the follow-up of the patients is important.

  9. Congenital Leukemia Initially Presenting with Leukemia Cutis

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    Melike Sezgin Evim

    2012-12-01

    Full Text Available Introduction: Congenital leukemia represents less than 1% of childhood leukemia. Its prognosis is poor. Myeloid form is the most common type, and leukemia cutis has been observed in 25-30% of the patients. These skin lesions are defined as ‘blueberry muffin’ type which are blue-violaceous and usually multiple and diffuse nodules. Case Report: She had diffuse blue-violaceous nodules since birth. She hospitalized due to sepsis for 35 days. She was referred to our center with the suspicion of immune deficiency. The initial physical findings were severe pallor, diffuse blue-violaceous subcutanose nodules and hepatosplenomegaly. The leucocyte count was found 363 000/mm3. Acute monositer leukemia (AML-M5 was determined with morphologic and flow cytometric evaluation of the peripheral blood. Conclusion: Congenital leukemia must be thought in differential diagnosis from other underlying disease presenting with blueberry muffin skin lesions. (Jo­ur­nal of Cur­rent Pe­di­at­rics 2012; 10: 103-6

  10. Genetics Home Reference: Müllerian aplasia and hyperandrogenism

    Science.gov (United States)

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

  11. Laparoscopic Morcellation of Didelphic Uterus With Cervical and Renal Aplasia

    OpenAIRE

    Altchek, Albert; Brodman, Michael; Schlosshauer, Peter; Deligdisch, Liane

    2009-01-01

    This is a case report (and review of the literature) of a 12-year and 10-month-old girl with a rare congenital anomaly of uterus didelphys, unilateral cervix aplasia, and ipsilateral renal aplasia. She had severe dysmenorrhea from the first menses. In an effort to preserve fertility, a cervical fistula was made that closed over. A laparoscopic hemi-hysterectomy was done successfully and rapidly with laparoscopic morcellation. Because no ureter was present, it was not necessary to trace it. Fo...

  12. Leucemia Cutis de presentación atípica An atypical presentation of Leukemia Cutis

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    F Pulgar Martín

    2011-06-01

    Full Text Available El trabajo aporta un nuevo caso de leucemia cutis, raro en frecuencia, que presenta un comienzo clínico muy poco habitual, a tener en cuenta. Fueron necesarias varias biopsias para llegar al diagnóstico de la paciente. La supervivencia de la paciente está por encima de la media en estos casos.The work presents a new case of leukemia cutis, rare in frequency, which has a very unusual clinical onset to take into account. It took several biopsies for the diagnosis of the patient. The survival of the patient is above average in these cases.

  13. Tuberculosis verrucosa cutis (TBVC)--foot with miliary tuberculosis.

    Science.gov (United States)

    Padmavathy, L; Lakshmana Rao, L; Ethirajan, N; Ramakrishna Rao, M; Subrahmanyan, E N; Manohar, U

    2007-07-01

    Tuberculosis Verrucosa Cutis (TBVC) or warty tuberculosis is a variant of cutaneous tuberculosis in patients with good cell mediated immunity (CMI) to Mycobacterium Tuberculosis, while Miliary Tuberculosis is associated with very poor CMI. Two widely different clinical presentations in the same patient are very rare and being reported. PMID:17886704

  14. Rosacea-Like Leukemia Cutis: A Case Report.

    Science.gov (United States)

    Cruz Manzano, Mariana; Ramírez García, Lilliana; Sánchez Pont, Julio E; Velázquez Mañana, Ana I; Sánchez, Jorge L

    2016-08-01

    Leukemia cutis describes the infiltration and dissemination of neoplastic leukemic cells into the epidermis, dermis, or subcutis, resulting in clinically identifiable cutaneous lesions. Depending on the type of leukemia, a wide range of clinical and histopathological findings may be encountered. This report describes a patient with a rosacea-like eruption as a unique clinical presentation of T-cell prolymphocytic leukemia. PMID:27043335

  15. Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels

    OpenAIRE

    Lee, Ting-Ting; Zhang, Xiao-Dong; Chuang, Chao-Chin; Chen, Jing-Jer; Chen, Yi-An; Chen, Shu-Ching; Chen, Tsung-Yu; Tang, Chih-Yung

    2013-01-01

    Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl−) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion. One hypothesis for myotonia congenita is that the inheritance pattern of the disease is determined by the functional consequence of the mutation on the gating of CLC-1 channels. Several disease-related mutations, however, have been shown to yield functional...

  16. Radiologic Findings in Cutis Laxa Syndrome and Unusual Association with Hypertrophic Pyloric Stenosis

    OpenAIRE

    Alehossein, Mehdi; Pourgholami, Masoud; Kamrani, Kamyar; Soltani, Mohammad; Yazdi, Afshin; Salamati, Payman

    2013-01-01

    Cutis laxa (CL) is a rare congenital and acquired disorder characterized by loose and redundant skin with reduced elasticity. Three types of congenital cutis laxa have been recognized. Other findings are pulmonary emphysema, bronchiectasia, hernia and diverticulosis. We describe a female neonate involved by cutis laxa syndrome and a positive family history. We focus on the radiologic findings of this case such as multiple bladder diverticulosis, GI diverticulosis and very rare accompanying hy...

  17. Aleukemic leukemia cutis in a patient with Philadelphia chromosome-positive biphenotypic leukemia.

    OpenAIRE

    Onozawa, Masahiro; Hashino, Satoshi; Kanamori, Hiroe; Izumiyama, Koh; Yonezumi, Masakatsu; Chiba, Koji; Kondo, Takeshi; Fukuhara, Takashi; Tanaka, Junji; Imamura, Masahiro; Asaka, Masahiro

    2004-01-01

    Aleukemic leukemia cutis is a rare condition characterized by the invasion of leukemic blasts into the skin before their appearance in the peripheral blood. Leukemia cutis usually occurs in patients with myeloid leukemia, especially the myelomonocytic and monocytic types of acute myeloblastic leukemia. We describe the case of a 62-year-old woman with aleukemic leukemia cutis who developed Philadelphia-positive acute leukemia 1 month after skin involvement. Leukemic cells expressed both myeloi...

  18. CT complete congenital eventration of diaphragm with aplasia of lung

    International Nuclear Information System (INIS)

    Diaphragmatic anomalies are commonly associated with unilateral pulmonary hypoplasias. However complete eventration of the diaphragm with aplasia of the ipsilateral lung is a rare combination of congenital anomalies. The clinical profile and computed tomography (CT) findings in a new-born with complete eventration of right hemidiaphragm and aplasia of right lung are presented. It is thus demonstrated that CT is a very effective, non invasive means of diagnosis which in the past depended largely on invasive procedures such as bronchography, angiography and thoracotomy. 16 refs., 3 figs

  19. Dyskeratosis Congenita- Management and Review of Complications: A Case Report

    OpenAIRE

    Shivam Sinha; Vikas Trivedi; Arvind Krishna; and Nidhi Rao

    2013-01-01

    Among the inherited bone marrow failure disorders, dyskeratosis congenita is an X-linked inherited disorder arising as a consequence of short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, and teeth which lead to higher permeability for noxious agents which can induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb ...

  20. Conservative Treatment of a Patient with Epidermolysis Bullosa Presenting as Bart Syndrome: A Case Report

    OpenAIRE

    2010-01-01

    We presented a case of a newborn male with aplasia cutis congenita on the lower limb. The case was treated with conservative method. As for the conservative treatment, daily hydrodebridement with 1/200 diluted povidone-iodine and serum physiologic was performed, followed by closure of the wound with a dexpanthenol + chlorhexidine + fusidic acid-impregnated sterile gauze bandage. the followup that occured after three weeks, the wound was completely epithelialized, but a hypopigmented scar rema...

  1. Conservative Treatment of a Patient with Epidermolysis Bullosa Presenting as Bart Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Samet Vasfi Kuvat

    2010-01-01

    Full Text Available We presented a case of a newborn male with aplasia cutis congenita on the lower limb. The case was treated with conservative method. As for the conservative treatment, daily hydrodebridement with 1/200 diluted povidone-iodine and serum physiologic was performed, followed by closure of the wound with a dexpanthenol + chlorhexidine + fusidic acid-impregnated sterile gauze bandage. the followup that occured after three weeks, the wound was completely epithelialized, but a hypopigmented scar remained in the limb.

  2. Amyloidosis cutis dyschromica: A rare reticulate pigmentary dermatosis

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    Shyam Verma

    2015-01-01

    Full Text Available We are reporting a rare case of amyloidosis cutis dyschromica in a 41-year-old man. This is a rare form of primary cutaneous amyloidosis characterized by reticulate pigmentation with hypopigmented and hyperpigmented macules, onset in childhood, familial tendency in some, occasional mild itching and deposition of amyloid in the papillary dermis. Our case also had multiple bilaterally symmetrical hyperpigmented keratotic papules abutting the axillary vault resembling those seen in Dowling-Deogs disease. The other unusual feature in this patient was the strong family history of vitiligo, which we are unable to explain. We have also tried to explain the mechanism leading to the hyperpigmentation and hypopigmentation in amyloidosis cutis dyschromica.

  3. Miliary Osteoma Cutis of the Face: A Case

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    Selma Emre

    2014-03-01

    Full Text Available Osteoma cutis (cutaneous ossification (OC is a rare disorder with true bone formation within the skin. Multiple miliary osteoma cutis of the face (MMOCF is a cause of acquired OC, is characterized by multiple, small, and primary osteomas in the skin tissue of the face and is a benign extraskeletal and rare bone formation. To date, 52 cases with MMOCF have been reported in the literature. Herein, we report a 56-year-old female patient presented with multiple small, firm, skin-colored papules on the forehead and face lasting for 4 years. She had no history of preexisting acne or any local inflammatory disease at the lesional sites. The skin biopsy revealed osteoid formation with central degeneration and calcification in the dermis. Depending on these clinical and histopathological findings, the patient was diagnosed as MMOCF.

  4. Embolis cutis medicamentosa, a rare preventable iatrogenic complication

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    Manjunath Kavya,

    2015-07-01

    Full Text Available Embolis cutis medicamentosa is an uncommon iatrogenic complication characterised by variable degree of skin and tissue necrosis, likely to follow intramuscular injection. Intense pain and purplish discoloration of overlying skin, with or without reticulate pattern subsequently followed by tissue necrosis and scarring is highly specific for this syndrome. It has also been reported following intravenous, intra-articular and subcutaneous injections. Herein we are reporting two cases of this rare preventable entity.

  5. Leukemia cutis resembling a flare-up of psoriasis

    OpenAIRE

    Ferreira, M; Caetano, M.; I. Amorim; Selores, M

    2006-01-01

    Abstract Leukemia cutis represents a skin infiltration by leukemic cells. Clinically it can mimic a wide variety of dermatoses. We describe the case of a 64-year-old man with psoriasis who presented with a 4-day history of erythematous, slightly scaly, asymptomatic plaques distributed on the trunk and upper-extremities, and associated asthenia, myalgias, and anorexia. A skin biopsy revealed a leukemic infiltrate. Studies of peripheral blood and bone marrow provided a diagnosis of acute mon...

  6. A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa

    OpenAIRE

    Siefring, Mark L.; Lawrence, Elizabeth C.; Nguyen, Tom C.; Lu, Doanh; Pham, Giang; Lorenchick, Christa; Levine, Kara L.; Urban, Zsolt

    2014-01-01

    We report a 3-year-old girl from Vietnam with severe congenital cutis laxa, no cardiovascular, pulmonary, neurological or visceral involvement and no family history of cutis laxa. Mutational analysis of the elastin (ELN) gene identified heterozygosity for a previously unreported, de novo c.2184delT mutation in exon 30, not present in either parent.

  7. Familial myomatosis cutis et uteri, segmental type 2

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    Palak Deshmukh

    2013-01-01

    Full Text Available Reed′s syndrome or familial myomatosis cutis et uteri, an autosomal dominant inherited condition with incomplete penetrance, is characterized by multiple cutaneous and uterine leiomyomas. [1] Uterine leiomyomas usually commence earlier compared to that in the general population and cutaneous leiomyomas may precede, follow or occur concurrently. Few patients may have associated renal cell carcinoma. Herein we report a case of a 50-year-old female with multiple, painful cutaneous leiomyomas and who had undergone hysterectomy owing to large uterine fibroids. Her 18-year-old daughter also has uterine fibroids.

  8. Cútis laxa: relato de caso Cutis laxa: case report

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    Gisele Moro do Nascimento

    2010-10-01

    Full Text Available A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico. Os autores relatam o caso de uma paciente, com quadro clínico sugestivo da forma hereditária da doença, com pais consangüíneos (primos de 2º grau e irmão falecido com clínica semelhante. O estudo genético do gene FBLN5 teve importância na confirmação diagnóstica, na definição do prognóstico e no aconselhamento genético familiar.Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins and a brother who died with a similar clinical presentation. The genetic study of the FBLN5 gene was important to confirm the diagnosis, define the prognosis, and provide genetic counseling to the family.

  9. Arthrogryposis multiplex congenita - a rare congenital stiff joints syndrome

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    Velisavljev-Filipović Gordana

    2006-01-01

    Full Text Available Introduction: Arthrogryposis multiplex congenita is not a disease but a term describing multiple congenital contractures. Etiological factors include neurological and primary myogenic diseases. This rare syndrome is present at birth and is characterized by reduced mobility of many joints. The contractures involve two or more joints with ankylosis. The accompanying musculature is hypoplastic, but multiple pterygia are also present. Arthrogryposis multiplex congenita is a heterogeneous group of disorders with the incidence rate of 6.2/100000 liveborn infants. The true incidence cannot be established, because many cases result in spontaneous miscarriages or stillbirth. More than 90% of cases are associated with birth defects. The cause of this syndrome is unknown. Many forms are not hereditary, though there are hereditary forms as well. Case report. This paper presents a case with arthrogryposis multiplex congenita. The pregnancy was not controlled regularly. During the pregnancy, oligohydramnion was detected. Due to contractures, labor ended is cesarean section. The child was born in the 34th week of gestation. Flexion and extension joint contractures were observed. Active and passive mobility of the afflicted joints was reduced. There was a limited motor function in the shoulder, elbow and wrist joints with a slight internal rotation of the shoulder joint and lower arm joints during pronation. The hips were subluxated; the feet were in equinovarus position and the fingers in ulnar deviation with partial syndactyly of the 4th and 5th fingers on the left hand. The infant had abnormal dermatoglyphics. The neck was short, and the 2nd and 3rd cervical vertebrae were fused. There was also a slight left-sided thoracic scoliosis. Trismus was present due to the existing ankylosis of the temporomandibular joint. The karyotype was normal. The serum creatinine phosphokinase was slightly elevated. The electromyographic picture indicate non-specific signs of

  10. Thermomechanical processing of CuTi4 alloy

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    Z. Rdzawski

    2010-09-01

    Full Text Available Purpose: One of the reasons behind the interest in copper titanium alloys was development of new materials to substitute copper beryllium alloys. The reason for selecting that material for studies was that in the early stages of decomposition of CuTi4 alloy a spinodal transformation takes place and ordering processes begin. Proper selection of heat treatment and plastic working conditions provides possibilities to produce very wide range of sets of properties by formation of the required alloy microstructure. Therefore the main objective of the study was to capture the changes in precipitation kinetics, especially in the relations between supersaturation and ageing or between supersaturaion, cold deformation and ageing in connection to the changes in microstructure and functional properties (mainly changes in hardness and electrical conductivity.Design/methodology/approach: Melting of the charge material was conducted in medium-frequency induction furnace, in a graphite crucible. The melted material after bath preparation was poured into a cast iron ingot mould (with graphite grease applied on the inside of dimensions 35 x 120 x 250 mm. The ingots after casting were peeled. The treated ingots were heated in resistance furnace at 900ºC for 1.5 hour and rolled down on a reversible two-high mill.Findings: Decomposition of supersaturated solid solution in that alloy is similar to the alloys produced in laboratory scale. The observed differences in microstructure after supersaturation were related to the presence of undissolved Ti particles and increased segregation of titanium distribution in copper matrix including microareas of individual grains. The mentioned factors influence the mechanism and kinetics of precipitation and subsequently the produced wide ranges of functional properties of the alloy.Research limitations/implications: Cold deformation (50% reduction of the alloy after supersaturation changes the mechanism and kinetics of

  11. CT-scanning of skeletal muscle in arthrogryposis multiplex congenita

    International Nuclear Information System (INIS)

    CT-scanning of skeletal muscles was performed on 14 patients with arthrogryposis multiplex congenita (AMC), according to an eight-slice protocol. Adipose tissue replacement and atrophy of muscles was found in six patients with neurogenic or myopathic origin of AMC, associated with severe muscle weakness. In the remaining patients with other forms of AMC, in which muscle weakness was less marked or absent, muscular CT-scanning was normal. It is stated that muscular CT-scanning is not a routine investigation in a screening procedure of all cases of AMC. However, CT-scanning appears to be useful in cases of severe AMC with associated muscle weakness in detecting the neurogenic and myopathic forms. It also facilitates the selection of a suitable site for EMG and biopsy and may provide important information for orthopaedic management. (author)

  12. Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report.

    Science.gov (United States)

    Zheng, Xiao-Yu; Xu, Jia; Li, Wei; Li, Si-Si; Shi, Cai-Ping; Zhao, Zheng-Yan; Mao, Jian-Hua; Chen, Xi

    2016-03-01

    Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. The main cause of mortality in DC is immunodeficiency and vital infection. DC involves multisystem, but retinal involvements are rare.Herein, we report an unusual case of pediatric DC suffering from frosted branch angiitis (FBA) after recovery of mycoplasma pneumonia. Cytomegalovirus infection and cytokine changes were found relevant to the onset of FBA. Despite corticosteroids, antiviral medication, and hematopoietic stem cell transplantation, the patient ended in poor vision with optic atrophy.This case implies that pediatricians should be aware of FBA as a rare retinal manifestation in children with DC and bone marrow failure. Cytomegalovirus may be one of the common causes and cytokines could be triggering factors. PMID:27015183

  13. THE PURE RED BLOOD CELL APLASIA IN RENAL TRANSPLANT RECIPIENT

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    B. T. Dzumabaeva

    2011-01-01

    Full Text Available The pure red blood cell aplasia of renal transplant recipients caused by parvovirus B19 (PB19 is characterized by persistent anemia which resistant to erythropoietin therapy, lack of reticulocytes, bone marrow hypoplasia, and clinically accompanied by severe recurrent bacterial, fungal and viral infection. In case of reactivation PB19 it is necessarv, first of all, eliminate the causes activation of this virus and to cancel or reduce the dose of drugs which depressed the normal hematopoiesis germs, thus to reduce the pancytopenia associating complications in this population. 

  14. Pure red cell aplasia induced by epoetin zeta.

    Science.gov (United States)

    Panichi, Vincenzo; Ricchiuti, Guido; Scatena, Alessia; Del Vecchio, Lucia; Locatelli, Francesco

    2016-08-01

    Pure red cell aplasia (PRCA) may develop in patients with chronic kidney disease receiving erythropoiesis-stimulating agents (ESA). We report on a 72-year-old patient who developed hypo-proliferative anaemia unresponsive to ESA following the administration of epoetin zeta subcutaneously for 7 months. On the basis of severe isolated hypoplasia of the erythroid line in the bone marrow and high-titre neutralizing anti-erythropoietin antibodies (Ab), a diagnosis of Ab-mediated PRCA was made. Epoetin zeta was discontinued and the patient was given steroids. This was associated with anaemia recovery. To our knowledge this is the first PRCA case related to epoetin zeta. PMID:27478604

  15. Extramedullary Myeloid Cell Tumour Presenting As Leukaemia Cutis

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    Thappa Devinder Mohan

    2002-01-01

    Full Text Available We herewith report a case of extramedullary myeloid cell tumour presenting as leukaemia cutis for its rarity. It occurred in a 50 year old male patient who presented to us with a 40 days history of painless raised solid skin swellings over the trunk. Histopathological examination of the skin biopsy and bone marrow biopsy showed features suggestive of non-Hodgkin’s lymphoma. Immunophenotyping on skin biopsy specimens and bone marrow biopsy found tumour cells expressing CD43 and Tdt but were negative for CD3 and CD20. These features were consistent with extramedullary myeloid cell tumour involving skin and subcutis (cutaneous manifestation of acute myeloid leukaemia.

  16. Aspectos imunológicos da Leishmaniose Cutis Difusa

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    Aloysio Argollo

    1977-06-01

    Full Text Available Um caso de Leishmaniose Cutis Difusa é estudado quanto aos seus aspectos imunológicos. A imunidade celular foi investigada com testes intradérmicos, sensibilização artificia! do DNCB e dosagem de fator de inibição do macrófago (MIF. Embora alguns antígenos injetados tivessem dado reação positiva, a leishmanina foi não reatora evidenciando uma anergia específica. As imunoglobulinas G e M estavam elevadas. 0 encontro de anticorpos circulantes por alguns autores associando ao fato de que o complemento C3 era baixo em nosso paciente, levou-nos a considerar o consumo deste que fixado a complexos Ag-Ac circulantes poderiam explicar os surtos de febre e artralgias. Por fim são considerados os pontos de vista de autores diferentes em relação ao fato de que a LCD seria causada por espécie diferente de leishmânia, ou por defeito imunológico do paciente, destacando-se o trabalho de Convit³ em favor desta útlima hipótese.A case of Cutis Diffuse Leishmaniasis is studied in respect to its immuno logical aspects. Cell mediated immunity was investigated with a battery of nine intradermal antigens, using disposable 1.0 ml tuberculin syringes, with 25 guage oedles. Also, artificial sensibilization to the DNCB and dosage of the Macrophage Inhibiting Factor (MIF were carried out. Some of the intradermal tests were positive and the leishmanine reaction was negative showing specific anergy. The G and M immunoglobulines were elevated. Since circulating antibodies have been described in the literatura and our patient had tpe C³ complement at a low level we ponder about its consumption fixed to Ag-Ac complexes, which could explain the episodes of fever and arthralgias. Finally, the view points of different authors are considered in relation to the fact that CDL would be caused by a different species of leishumania, or by immunological defect of the host. Convit's reatons undoubtedly favors th is last hypothesis.

  17. Pure red cell aplasia following autoimmune hemolytic anemia: An enigma

    Directory of Open Access Journals (Sweden)

    M Saha

    2013-01-01

    Full Text Available A 26-year-old previously healthy female presented with a 6-month history of anemia. The laboratory findings revealed hemolytic anemia and direct antiglobulin test was positive. With a diagnosis of autoimmune hemolytic anemia (AIHA, prednisolone was started but was ineffective after 1 month of therapy. A bone marrow trephine biopsy revealed pure red cell aplasia (PRCA showing severe erythroid hypoplasia. The case was considered PRCA following AIHA. This combination without clear underlying disease is rare. Human parvovirus B19 infection was not detected in the marrow aspirate during reticulocytopenia. The patient received azathioprine, and PRCA improved but significant hemolysis was once again documented with a high reticulocyte count. The short time interval between AIHA and PRCA phase suggested an increased possibility of the evolution of a single disease.

  18. DNA methylation in PRDM8 is indicative for dyskeratosis congenita.

    Science.gov (United States)

    Weidner, Carola I; Lin, Qiong; Birkhofer, Carina; Gerstenmaier, Uwe; Kaifie, Andrea; Kirschner, Martin; Bruns, Heiko; Balabanov, Stefan; Trummer, Arne; Stockklausner, Clemens; Höchsmann, Britta; Schrezenmeier, Hubert; Wlodarski, Marcin; Panse, Jens; Brümmendorf, Tim H; Beier, Fabian; Wagner, Wolfgang

    2016-03-01

    Dyskeratosis congenita (DKC) is associated with impaired telomere maintenance and with clinical features of premature aging. In this study, we analysed global DNA methylation (DNAm) profiles of DKC patients. Age-associated DNAm changes were not generally accelerated in DKC, but there were significant differences to DNAm patterns of healthy controls, particularly in CpG sites related to an internal promoter region of PR domain containing 8 (PRDM8). Notably, the same genomic region was also hypermethylated in aplastic anemia (AA) - another bone marrow failure syndrome. Site-specific analysis of DNAm level in PRDM8 with pyrosequencing and MassARRAY validated aberrant hypermethylation in 11 DKC patients and 27 AA patients. Telomere length, measured by flow-FISH, did not directly correlate with DNAm in PRDM8. Therefore the two methods may be complementary to also identify patients with still normal telomere length. In conclusion, blood of DKC patients reveals aberrant DNAm patterns, albeit age-associated DNAm patterns are not generally accelerated. Aberrant hypermethylation is particularly observed in PRDM8 and this may support identification and classification of bone marrow failure syndromes. PMID:26909595

  19. Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.

    Science.gov (United States)

    Kerns, Michelle L; Hakim, Jill M C; Lu, Rosemary G; Guo, Yajuan; Berroth, Andreas; Kaspar, Roger L; Coulombe, Pierre A

    2016-06-01

    Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by oxidative stress in footpad skin of Krt16-/- mice and correlates with an inability of keratinocytes to sustain nuclear factor erythroid-derived 2 related factor 2-dependent (NRF2-dependent) synthesis of the cellular antioxidant glutathione (GSH). Additionally, examination of plantar skin biopsies from individuals with PC confirmed the presence of high levels of hypophosphorylated NRF2 in lesional tissue. In Krt16-/- mice, genetic ablation of Nrf2 worsened spontaneous skin lesions and accelerated PPK development in footpad skin. Hypoactivity of NRF2 in Krt16-/- footpad skin correlated with decreased levels or activity of upstream NRF2 activators, including PKCδ, receptor for activated C kinase 1 (RACK1), and p21. Topical application of the NRF2 activator sulforaphane to the footpad of Krt16-/- mice prevented the development of PPK and normalized redox balance via regeneration of GSH from existing cellular pools. Together, these findings point to oxidative stress and dysfunctional NRF2 as contributors to PPK pathogenesis, identify K16 as a regulator of NRF2 activation, and suggest that pharmacological activation of NRF2 should be further explored for PC treatment. PMID:27183391

  20. Dyskeratosis Congenita- Management and Review of Complications: A Case Report

    Directory of Open Access Journals (Sweden)

    Shivam Sinha

    2013-07-01

    Full Text Available Among the inherited bone marrow failure disorders, dyskeratosis congenita is an X-linked inherited disorder arising as a consequence of short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, and teeth which lead to higher permeability for noxious agents which can induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb to aplastic anemia, malignancy or immunocompromised state. We present a young male with the classic clinical triad and avascular necrosis of both femoral heads, with no evidence of hematologic anomaly or any malignancy. He was managed for osteonecrosis with uncemented total hip arthroplasty for the symptomatic left hip. Our case represents a benign form of such a fatal and rare condition, which if detected and managed early can result in improved quality of life for the patient suffering from this disorder. This patient is under our meticulous follow-up for the last 2 years in order to determine any late development of complications before being labelled as a variant of this syndrome.

  1. Dyskeratosis congenita- management and review of complications: a case report.

    Science.gov (United States)

    Sinha, Shivam; Trivedi, Vikas; Krishna, Arvind; Rao, Nidhi

    2013-07-01

    Among the inherited bone marrow failure disorders, dyskeratosis congenita is an X-linked inherited disorder arising as a consequence of short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, and teeth which lead to higher permeability for noxious agents which can induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb to aplastic anemia, malignancy or immunocompromised state. We present a young male with the classic clinical triad and avascular necrosis of both femoral heads, with no evidence of hematologic anomaly or any malignancy. He was managed for osteonecrosis with uncemented total hip arthroplasty for the symptomatic left hip. Our case represents a benign form of such a fatal and rare condition, which if detected and managed early can result in improved quality of life for the patient suffering from this disorder. This patient is under our meticulous follow-up for the last 2 years in order to determine any late development of complications before being labelled as a variant of this syndrome. PMID:23904924

  2. Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.

    Science.gov (United States)

    Allingham, Michael J

    2016-04-01

    Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropathies" also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congenita, as well as a subset of idiopathic pulmonary fibrosis, aplastic anemia, and Coats' plus syndrome. Retinopathy has only rarely been reported in DC and HH, but is universally present in Coats' plus and Revesz syndromes. The care of these patients is typically a multidisciplinary effort, and this should include monitoring by an ophthalmologist. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:366-368.]. PMID:27065378

  3. Cutaneous Chromoblastomycosis Mimicking Tuberculosis Verrucosa Cutis: Look for Copper Pennies!

    Science.gov (United States)

    Bandyopadhyay, Arghya; Majumdar, Kaushik; Gangopadhyay, Mimi; Banerjee, Sabyasachi

    2015-01-01

    Chromoblastomycosis is a rare chronic fungal infection of skin and subcutaneous tissue. It is primarily a disease of tropical and subtropical regions and affects mainly the agricultural workers following trauma with vegetable matter. Cutaneous Chromoblastomycosis may clinically mimic cutaneous tuberculosis as both the condition usually presents with hyper pigmented verrucous lesion of skin. Here in we report a case of chronic cutaneous Chromoblastomycosis in a middle aged woman from north eastern part of India, who was initially misdiagnosed as Tuberculosis verrucosa cutis. In histopathology characteristic brown colored spores of the fungus (also known as copper pennies) were seen within dermal abscess. The organism isolated from culture of the biopsy material was Fonsecaea pedrosoi thus confirming our diagnosis of cutaneous chromoblastomycosis. The patient responded well to oral Itraconazole. The dermatologists and pathologists should be aware of this condition especially when dealing with verrucous lesion of the skin. The pathologists should search for fungal spores in cutaneous lesion with pseudoepitheliomatous hyperplasia and dermal abscess. PMID:24272932

  4. Pure red cell aplasia in a simultaneous pancreas-kidney transplantation patient: inside the erythroblast

    Directory of Open Access Journals (Sweden)

    Francesca Labbadia

    2012-09-01

    Full Text Available A case of pure red cell aplasia in a simultaneous kidney-pancreas transplant recipient on immunosuppressive therapy is reported here. The patient presented with anemia unresponsive to erythropoietin treatment. Bone marrow cytomorphology was highly suggestive of parvovirus pure red cell aplasia, which was confirmed with serology and polymerase chain reaction positive for parvovirus B19 DNA in peripheral blood. After the administration of intravenous immunoglobulin the anemia improved with a rising number of the reticulocytes.

  5. Uterine horn aplasia with complications in two mixed-breed bitches : case report

    OpenAIRE

    M.L. Schulman; L.A. Bolton

    1997-01-01

    Unilateral segmental uterine horn aplasia was found in 2 mixed-breed bitches. The 1st bitch was presented with clinical signs of acute abdominal pain, and pyometra was suspected. Pyometra was confirmed surgically with rupture of a blind-ending cranial portion of the anomalous right uterine horn, which had resulted in peritonitis. The 2nd bitch was presented for routine ovariohysterectomy. The right uterine horn was affected by segmental aplasia, with mucometra of the cranial portion of the af...

  6. Surface tension of liquid Cu-Ti binary alloys measured by electromagnetic levitation and thermodynamic modelling

    International Nuclear Information System (INIS)

    The surface tension of liquid Cu-Ti alloys has been measured by using the containerless technique of electromagnetic levitation and theoretically calculated in the framework of the compound formation model. Measurements have been carried out on alloys covering the entire range of composition and over the temperature range 1275-2050 K. For all investigated alloys the surface tension can be described by a linear function of the temperature with negative slope. Due to the presence of different intermetallic compounds in the solid state the surface properties of liquid Cu-Ti alloys are satisfactory described by the compound formation model.

  7. Aplasia pura de serie roja post-trasplante alogeneico de células progenitoras hematopoyeticas ABO incompatible Pure red cell aplasia after ABO incompatible bone marrow transplantation

    OpenAIRE

    E. Bulliorsky; C. Shanley; G. Stemmelin; J. Ceresetto; O. Rabinovich

    2002-01-01

    El trasplante alogeneico de células progenitoras hematopoyéticas (TCPH) con incompatibilidad ABO entre el donante y el receptor puede en ocasiones asociarse a trastornos en la progenie eritroide desarrollada a partir de la médula ósea trasplantada, caracterizado por un funcionamiento tardío, inadecuado e incompleto de la misma. En este contexto, la aplasia pura de serie roja es la complicación más severa. Se han intentado tratamientos para la aplasia pura de serie roja post-TCPH con eritropoy...

  8. DNA damage responses and oxidative stress in dyskeratosis congenita.

    Directory of Open Access Journals (Sweden)

    Larisa Pereboeva

    Full Text Available Dyskeratosis congenita (DC is an inherited multisystem disorder of premature aging, cancer predisposition, and bone marrow failure caused by selective exhaustion of highly proliferative cell pools. DC patients also have a poor tolerance to chemo/radiotherapy and bone marrow transplantation. Although critically shortened telomeres and defective telomere maintenance contribute to DC pathology, other mechanisms likely exist. We investigate the link between telomere dysfunction and oxidative and DNA damage response pathways and assess the effects of antioxidants. In vitro studies employed T lymphocytes from DC subjects with a hTERC mutation and age-matched controls. Cells were treated with cytotoxic agents, including Paclitaxel, Etoposide, or ionizing radiation. Apoptosis and reactive oxygen species (ROS were assessed by flow cytometry, and Western blotting was used to measure expression of DNA damage response (DDR proteins, including total p53, p53S15, and p21(WAF. N-acetyl-cysteine (NAC, an antioxidant, was used to modulate cell growth and ROS. In stimulated culture, DC lymphocytes displayed a stressed phenotype, characterized by elevated levels of ROS, DDR and apoptotic markers as well as a proliferative defect that was more pronounced after exposure to cytotoxic agents. NAC partially ameliorated the growth disadvantage of DC cells and decreased radiation-induced apoptosis and oxidative stress. These findings suggest that oxidative stress may play a role in the pathogenesis of DC and that pharmacologic intervention to correct this pro-oxidant imbalance may prove useful in the clinical setting, potentially alleviating untoward toxicities associated with current cytotoxic treatments.

  9. Pachyonychia Congenita Type 1: Case Report and Review of the Literature

    Science.gov (United States)

    Rathore, Praveen Kumar; Khullar, Varun; Das, Anupam

    2016-01-01

    The case of an 8-year-old boy is hereby reported, who presented with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules all over the body. The features were consistent with a diagnosis of pachyonychia congenita type 1. The case is being reported for its rarity. We also discuss in a nutshell, the literature till date. PMID:27057022

  10. Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

    OpenAIRE

    Young, I D; Ruggins, N R; Somers, J M; Zuccollo, J M; N. Rutter

    1992-01-01

    A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.

  11. Microstructural and auger microanalytical characterization of Cu-Hf and Cu-Ti catalysts.

    Science.gov (United States)

    Pisarek, M; Janik-Czachor, M

    2006-06-01

    Degradation processes occurring at the surface and in the bulk of Cu-based amorphous alloys during cathodic hydrogen charging were used for promoting the catalytic activity of such alloys. These processes modifying the structure, composition, and morphology of the substrate proved to be useful methods for transforming Cu-Hf and inactive Cu-Ti amorphous alloy precursors into active and durable catalysts. Indeed, their catalytic activity for dehydrogenation of 2-propanol increased up to a conversion level of approximately 60% at selectivities to acetone of about 99% for Cu-Ti and to conversion of approximately 90% at selectivities of approximately 95% for Cu-Hf. Previous attempts carried out by aging in air or hydrogen charging from the gas phase resulted in a maximum conversion level up to 15% for Cu-Hf and up to 3% for Cu-Ti. High resolution Auger spectroscopy allowed changes occurring during the activation process to be identified, namely, the formation of small Cu particles on the HfO2 surface and the formation of highly porous particles containing mostly Cu and some Ti and O (Cu-Ti-O) on a Cu-Ti substrate. Differences in the chemistry and structure of both catalysts are discussed, and the implications for catalytic function are considered. A probable configuration of active sites on the Cu-Ti-O/Ti-O-Cu catalyst for dehydrogenation of 2-propanol is proposed. PMID:17481359

  12. Preparation and Microstructure of Cu/Ti3SiC2 Nanocomposite

    Institute of Scientific and Technical Information of China (English)

    GU Wan-li; SHENG Wen-bin; CHEN Zong-min

    2006-01-01

    Mixed micron-sized Cu/Ti3SiC2 (vol5%) powder was mechanically milled using agate balls and zirconia balls separately. Then followed an examination of it with the FEI-SEM. The experimental results show that, distributed homogenously in Cu matrix, the Ti3SiC2 particles have a size of about 30-50 nm after milled with agate balls for 8 h, while it remains approximately unchanged after milled with zirconia balls. The microstructure of the mixture at different ball-milling stages was also studied. Bulks of Cu/Ti3SiC2 nano-composite were fabricated by hot pressing nano-sized Cu/Ti3SiC2 powder at the temperature of 1 073 K under 100 MPa. Then came an investigation of the effects of the particle size and agglomerate state of Ti3SiC2 as well as the microstructure of Cu/Ti3SiC2 nano-composite. It was found that the nano-sized Ti3SiC2 particles distribute evenly in copper.

  13. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

    NARCIS (Netherlands)

    Fischer, B.; Callewaert, B.; Schroter, P.; Coucke, P.J.; Schlack, C.; Ott, C.E.; Morroni, M.; Homann, W.; Mundlos, S.; Morava, E.; Ficcadenti, A.; Kornak, U.

    2014-01-01

    Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wrinkled skin, skeletal anomalies, and a variable degree of intellectual disability. ALDH18A1-related ARCL is the most severe form within this disease spectrum. Here we report o

  14. Marrow fat cell: response to x-ray induced aplasia

    International Nuclear Information System (INIS)

    Adipose tissue is an integral structural component of normal rabbit marrow and is believed to behave primarily as a cushion in response to hemopoietic proliferation, accommodating to changes in hemopoiesis by change in either size or number or both of the fat cells in order to maintain constancy of the marrow volume. To test this hypothesis, aplasia of the right femur of New Zealand white rabbits was induced by x irradiation with 8000 rads; the left unirradiated limb served as control. Twenty-four hours before sacrifice 50 μCi of palmitate-114C was administered intravenously and the marrow of both femurs removed. Samples of perinephric fat were taken for comparison. Fat cell volume, C14 palmitate turnover and fatty acid composition were determined. The total number of fat cells in the entire marrow of both femurs was calculated. The measurements showed no difference in size or fatty acid turnover of the fat cells in the irradiated aplastic marrow from the cells of the control marrow. The number of fat cells in both the irradiated and the unirradiated control femurs was essentially the same. These findings do not support the view that marrow fat cells respond to diminished hematopoiesis by either increase in their volume or number. In addition, the findings suggest that both marrow and subcutaneous fat cells are fairly resistant to high doses of x-ray irradiation

  15. Adams-Oliver syndrome, a successful conservative approach for a large scalp defect

    Directory of Open Access Journals (Sweden)

    Vera Baptista

    2015-12-01

    Full Text Available Adams-Oliver syndrome was first described in 1945 as a multiple congenital malformations association including aplasia cutis congenita and terminal transverse limb defects, along with cardiovascular and central nervous system anomalies. We report the case of a boy, prenatally diagnosed with a malformation of feet and right hand. At birth, a malformation of the skull was observed, at midline and right frontal, parietal and occipital region, with meningeal exposition. He presented with abnormal feet and right hand with hypoplastic fingers and also exhibiting cutis marmorata telangiectatica. Cardiac, abdominal and central nervous system malformations were excluded. He started a conservative approach based on daily dressings. The scalp defect closed at 4 months with this management strategy. At this age, a skull defect about 5 cm long was still perceptible by palpation of the area. The boy showed normal growth and neurologic development. No complications were reported. This report reinforces the effectiveness of conservative management strategies for extensive bone and epithelization defects in syndromes of aplasia cutis congenita like Adams-Oliver syndrome.

  16. Cutis verticis gyrata in a patient with multiple basal cell carcinomas; case presentation and review of the literature

    Directory of Open Access Journals (Sweden)

    Simona-Roxana Georgescu

    2016-04-01

    Full Text Available Cutis verticis gyrata is a rare disease characterized by convoluted folds and deep furrows of the scalp, resembling the gyri and sulci of the cerebral cortex. Basal cell carcinoma is the most frequent cancer in Caucasians, patients frequently presenting multiple tumors. We report the case of a 62 year old male, Caucasian patient, from the urban area, who addressed the dermatology department of our hospital for multiple tumors located on the face and upper trunk. A careful examination revealed cerebriform folding of the skin of the scalp. Neurological, psychological, ophthalmological and endocrine disorders were disproven. The patient was diagnosed with cutis verticis gyrata based on the clinical picture and anamnesis, and basal cell carcinoma based on the histopathological examination. Since cutis verticis gyrata predated the BCCs by four decades, and no other conditions were associated, the patient was diagnosed with primary essential cutis verticis gyrata.

  17. Uterine horn aplasia with complications in two mixed-breed bitches : case report

    Directory of Open Access Journals (Sweden)

    M.L. Schulman

    1997-07-01

    Full Text Available Unilateral segmental uterine horn aplasia was found in 2 mixed-breed bitches. The 1st bitch was presented with clinical signs of acute abdominal pain, and pyometra was suspected. Pyometra was confirmed surgically with rupture of a blind-ending cranial portion of the anomalous right uterine horn, which had resulted in peritonitis. The 2nd bitch was presented for routine ovariohysterectomy. The right uterine horn was affected by segmental aplasia, with mucometra of the cranial portion of the affected horn. Histopathology demonstrated both uteri to have diffuse cystic endometrial hyperplasia. It is postulated that cystic endometrial hyperplasia, together with the congenital anomaly, resulted in pyometra in one case and in mucometra in the other case. This is believed to be the 1st report of uterine horn aplasia in the bitch in association with clinical signs and lesions other than infertility.

  18. A Patient with Unilateral Tibial Aplasia and Accessory Scrotum: A Pure Coincidence or Nonfortuitous Association?

    Directory of Open Access Journals (Sweden)

    Zoran Gucev

    2010-01-01

    Full Text Available Tibial aplasia is an uncommon lower limb malformation that can occur isolated or be part of a more complex malformation pattern. We describe a 9-year-old boy born after uneventful pregnancy and delivery. Family history was negative for maternal diabetes and other malformations. The patient presented with left tibial aplasia and homolateral prexial foot polydactyly. He also displayed enamel dysplasia and bifid scotum with cryptorchidism. Literature review failed to identify a significant syndromic association between lower limb defects of the tibial type and the genital anomalies reported here. The combination of tibial aplasia with midline genital malformations further supports the hypothesis that the tibial ray development mirrors the morphogenetic process of the radial structures. Accordingly, the malformation pattern observed in the present patient may be pathogenetically explained by an insult occurring during late blastogenesis.

  19. Bone marrow aplasia and severe skin rash after a single low dose of methotrexate.

    Science.gov (United States)

    Copur, S; Dahut, W; Chu, E; Allegra, C J

    1995-02-01

    A 64 year old man with recurrent metastatic squamous cell carcinoma of the head and neck developed severe skin rash and bone marrow aplasia 4 and 7 days, respectively, following a single dose of 40 mg/m2 methotrexate (MTX). Skin rash involved regions of the face, lower abdomen, back, buttocks and both upper thighs. Biopsy of the skin rash demonstrated superficial perivascular lymphocytic infiltrate and was consistent with a drug reaction. Peripheral blood count revealed pancytopenia and a bone marrow biopsy was consistent with aplasia. Blood counts returned to normal 6 days after institution of granulocyte colony stimulating factor therapy. In the absence of mucositis or diarrhea, severe dermatologic toxicity following a single low dose of the drug suggests an 'allergic' or acute hypersensitivity reaction to MTX in this patient. Development of an extensive skin rash following a single dose of MTX may be an early warning sign for life-threatening bone marrow aplasia. PMID:7538828

  20. Aplasia pura de serie roja post-trasplante alogeneico de células progenitoras hematopoyeticas ABO incompatible Pure red cell aplasia after ABO incompatible bone marrow transplantation

    Directory of Open Access Journals (Sweden)

    E. Bulliorsky

    2002-12-01

    Full Text Available El trasplante alogeneico de células progenitoras hematopoyéticas (TCPH con incompatibilidad ABO entre el donante y el receptor puede en ocasiones asociarse a trastornos en la progenie eritroide desarrollada a partir de la médula ósea trasplantada, caracterizado por un funcionamiento tardío, inadecuado e incompleto de la misma. En este contexto, la aplasia pura de serie roja es la complicación más severa. Se han intentado tratamientos para la aplasia pura de serie roja post-TCPH con eritropoyetina o plasmaféresis, con relativo éxito. Algunos autores han informado también la utilización de globulina antilinfocitaria, asumiendo que dicha aplasia selectiva de la serie roja en la médula ósea trasplantada es mediada por un mecanismo inmune. En este trabajo se describe un paciente portador de una leucemia aguda en quien se realizó un TCPH alogeneico (ABO incompatible con su donante. Teniendo niveles bajos de aglutininas contra el grupo sanguíneo de la donante, desarrolló una aplasia pura de serie roja post - TCPH. La misma no mejoró con tratamiento con eritropoyetina o con un refuerzo de progenitores hematopoyéticos de sangre periférica de la misma donante (boost, resolviéndose totalmente luego de un tratamiento exitoso con globulina antilinfocitaria de origen equino.ABO incompatibility in allogeneic bone marrow transplantation may be associated with incomplete or delayed erythroid engraftment, being pure red cell aplasia (PRCA the most severe complication in this setting. Attempts for the treatment of PRCA have been made with erythropoietin or with plasmapheresis with relative success, and some authors have reported the reversibility of PRCA with antilymphocyte globulin (ALG or ATG, based on the assumption that PRCA might be immunologically mediated. We report herewith a patient with acute leukemia who developed post - BMT pure red cell aplasia. His sibling donor (sister was HLA identical and ABO incompatible, having low agglutinin

  1. Congenital aplasia of the optic chiasm and esophageal atresia: a case report

    Directory of Open Access Journals (Sweden)

    Madonia Maurizio

    2011-08-01

    Full Text Available Abstract Introduction The complete absence of the chiasm (chiasmal aplasia is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated or syndromic. In syndromic cases, it is frequently associated with cardiac, limb, renal or vertebral malformations and anal atresia. More rarely, esophageal atresia can be part of anophthalmia-esophageal-genital syndrome, which comprises anophthalmia or microphthalmia, genital abnormalities, vertebral defects and cerebral malformations. Here, a previously unreported case of chiasmal aplasia presenting without microphthalmos and associated with esophageal atresia is described. Case presentation Aplasia of the optic chiasm was identified in a Caucasian Italian 8-month-old boy with esophageal atresia. An ultrasound examination carried out at 21 weeks' gestation revealed polyhydramnios. Intrauterine growth retardation, esophageal atresia and a small atrial-septal defect were subsequently detected at 28 weeks' gestation. Repair of the esophageal atresia was carried out shortly after birth. A jejunostomy was carried out at four months to facilitate enteral feeding. The child was subsequently noted to be visually inattentive and to be neurodevelopmentally delayed. Magnetic resonance imaging revealed chiasmal aplasia. No other midline brain defects were found. His karyotype was normal. Conclusion If achiasmia is a spectrum, our patient seems to depict the most severe form, since he appears to have an extremely severe visual impairment. This is in contrast to most of the cases described in the literature, where patients maintain good--or at least useful-- visual function. To the best of our knowledge, the association of optic nerve hypoplasia, complete chiasmal aplasia, esophageal

  2. Reticulocyte maturity index by flow cytometry: its applicability in radioinduced bone marrow aplasia

    International Nuclear Information System (INIS)

    Flow cytometric reticulocyte quantification was assayed in ten patients undergoing bone marrow transplantation (BMT) with previous conditioning chemotherapy and total body irradiation (TBI). A reticulocyte maturity index (RMI) was determined taking into account the RNA content. With de aim of testing the utility of RMI as an early predictor of functional recovery in marrow aplasia, other haematological indicators as neutrophils count were comparatively evaluated. Mean time elapsed between BMT and engraftment evidence by RMI was 17,6 days. In six patients the RMI was the earliest indicator of functional recovery. The applicability of this assay in the following of radioinduced bone marrow aplasia is discussed. (author). 4 refs., 4 figs., 2 tabs

  3. Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

    International Nuclear Information System (INIS)

    Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to. (orig.)

  4. Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

    Energy Technology Data Exchange (ETDEWEB)

    Kroepelin, T.; Ziupa, J.; Wimmer, B.

    1983-05-01

    Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to.

  5. Holoprosencephaly and Pure Red Cell Aplasia in a Feline Leukaemia Virus-Positive Kitten.

    Science.gov (United States)

    Southard, T L; Rodriguez-Ramos Fernandez, J; Priest, H; Stokol, T

    2016-01-01

    A 9-month-old, female, domestic longhair cat with severe anaemia tested positive for feline leukaemia virus (FeLV) and was humanely destroyed and submitted for necropsy examination. Gross findings included a non-divided rostral telencephalon, consistent with semilobar holoprosencephaly. Histological examination of the bone marrow revealed an almost complete absence of erythroid precursor cells, consistent with pure red cell aplasia, and mild to moderate myelofibrosis. This case demonstrates a very unusual central nervous system defect, as well as an atypical presentation of pure red cell aplasia, in a FeLV-positive kitten. PMID:26897097

  6. Flow cytometric of reticulocytes quantification: radio-induction medullary aplasia application

    International Nuclear Information System (INIS)

    Flow cytometric reticulocyte quantification was assayed in ten patients undergoing bone marrow transplantation (BMT) with previous conditioning by chemotherapy and total body irradiation. A reticulocyte maturity index (RMI) was determined taking into account the RNA content. With the aim of testing the utility of RMI as an early predictor of functional recovery in marrow aplasia, other hematological indicators as neutrophils count were comparatively evaluated. Mean time elapsed between BMT and engraftment evidence by RMI was 17,6 days. In six patients the RMI was the earliest indicator of functional recovery. The applicability of this assay in the pursuit of radioinduced bone marrow aplasia is discussed. (authors). 4 refs., 4 figs., 2 tabs

  7. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

    OpenAIRE

    Anderson, I J; Goldberg, R.B.; Marion, R W; Upholt, W B; Tsipouras, P

    1990-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Manifestations are present at birth. We ascertained a 4-generation family exhibiting the clinical manifestations of the disorder. Previous evidence suggesting defects of type II collagen associated with the SEDC phenotype led us to genotype the family for various COL2A1 gene-associ...

  8. A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice

    OpenAIRE

    Frescas, David; de Lange, Titia

    2014-01-01

    The progressive bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations in telomerase or factors involved in telomerase biogenesis and trafficking. However, a subset of DC patients is heterozygous for mutations in the shelterin component TIN2. Here, heterozygous TIN2-DC mice showed a telomere-shortening phenotype in both telomerase-proficient and telomerase-deficient backgrounds. This study raises the possibility that some of the TIN2-DC mutations may affect telo...

  9. A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?

    Science.gov (United States)

    Gönül, Müzeyyen; Gül, Ülker; Kılıç, Arzu; Soylu, Seçil; Koçak, Oğuzhan; Demiriz, Murat

    2015-03-01

    A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita. PMID:25713981

  10. Sweet′s Syndrome Leading To Acquired Cutis Laxa (Marshall′s Syndrome In A Child

    Directory of Open Access Journals (Sweden)

    Narayanan Meenakshi

    2004-01-01

    Full Text Available Acute febrile neutrophilic dermatosis (AFND, commonly known as Sweet’s syndrome, is a disorder seen in adult females, being extremely rare in children. Typical features include spiky fever, sudden eruption of raised painful erythematous to plum-colored nodules and plaques, neutrophilic leucocytosis, a dermal neutrophili infiltrate an a rapid response to systemic steroid. The eruption is believed to represent a hypersensitivity reaction to an antecedent infection or malignancy. There have been rare reports of acquired cutis laxa (Marshall’s syndrome following Sweet’s syndrome. We report one such case of Sweet’s syndrome leading to acquired cutis laxa (Marshall’ syndrome in a child.

  11. Milia-like Idiopathic Calcinosis Cutis Occurring in a Toddler Born as a Premature Baby

    OpenAIRE

    Jang, Eun Joo; Lee, Ji Yeoun; Yoon, Tae Young

    2011-01-01

    Milia-like idiopathic calcinosis cutis (MICC) is characterized by smooth, firm, whitish papules resembling milia. Histologically, it appears as a well-defined, round, basophilic nodule within the upper dermis. Although the etiology and treatment remain unclear, it may resolve spontaneously. Some cases have been associated with Down syndrome, and the mean age of MICC patients was 9.9 years old. Herein, we report a rare case of MICC that was not associated with Down syndrome. Noticeably, the pa...

  12. Calorimetric studies of non-isothermal crystallization in amorphous CuTi100– alloys

    Indian Academy of Sciences (India)

    N Mehta; K Singh; N S Saxena

    2011-12-01

    The present paper reports the composition dependence of pre-exponential factor and activation energy of non-isothermal crystallization in amorphous alloys of CuTi100– system using differential scanning calorimeter (DSC) technique. The applicability of Meyer–Neldel relation between the pre-exponential factor and activation energy of non-isothermal crystallization for amorphous alloys of Cu–Ti system was verified.

  13. Comparative SIMS and US-LSNMS analysis of Cu/Ti multilayer thin films

    Science.gov (United States)

    Daskalova, A.; Husinsky, W.; Bashir, S.

    2008-12-01

    Sputtering of Cu/Ti layers was performed by Ar+ions. Analysis of the atomic and molecular composition of the sputtered plume was performed by means of Ultra-short Laser Neutral Mass Spectrometry (US-LSNMS) and Secondary Ion Mass Spectrometry (SIMS). Several ionic masses were observed and systematically studied with respect to the exposure time, laser fluence and target composition. The obtained data for complex layers indicate generally a good agreement between SNMS and SIMS. SIMS is more sensitive for many elements however the mass interferences can limit the analytical applicability. US-LSNMS mass spectra of Cu(Ti) sample have been acquired for different exposure times. In order to determine the effect of different laser ionization energies over the mass distribution of the elements, mass spectra of Cu(Ti) multilayers at several laser ionization energies were acquired. The elements interdiffusion was analyzed also by US-LSNMS, demonstrating the sensitivity, the limits and the future potential of the SNMS method for material characterization.

  14. Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2014-01-01

    Full Text Available Background: Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. We describe the reconstruction procedures in two subjects - a daughter and father manifested autosomal dominant (AD inheritance of the bilateral tibial aplasia and split hand-foot syndrome. Materials and Methods: Reconstruction of these patients required multiple surgical procedures and orthoprosthesis was mandatory. The main goal of treatment was to achieve walking. Stabilization of the ankle joint by fibular-talar-chondrodesis on both sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly. Results: The outcome was with improved function of the deformed limbs and walking was achieved with simultaneous designation of orthotic fitting. Conclusion: This is the first study encompassing the diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our patients showed the typical AD pattern of inheritance of split-hand/foot and tibial aplasia.

  15. RETREATMENT WITH FLUDARABINE AND CYCLOSPORINE FOR ONE CASE OF REFRACTORY PURE RED CELL APLASIA

    Institute of Scientific and Technical Information of China (English)

    Guang-sheng He; Xiang Zhang; De-pei Wu; Ai-ning Sun; Miao Miao; Xiu-li Wang; Zheng-ming Jin

    2008-01-01

    @@ MANY cases of pure red cell aplasia (PRCA) were mediated by over-function of immune cells, and responded well to immunosuppres-sive therapy.1 Sometimes refractory cases also arose. Fludara-bine is an analogue of adenosine resistant to deamination which is widely used for B-chronic lymphocytic leukemia (CLL) and other hematological malignancies.

  16. Ultrasound and MR Findings of Aleukemic Leukemia Cutis in a Patient with Complete Remission of Acute Lymphoblastic Leukemia: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Min Sung; Jee, Won Hee; Kim, Sun Ki; Lee, So Yeon; Lim, Gye Yeon; Park, Gyeong Sin; Lee, Seok [Catholic University of Korea College of Medicine, Seoul (Korea, Republic of)

    2010-12-15

    Aleukemic leukemia cutis is an extremely rare condition characterized by the infiltration of leukemic cells in skin without blasts in the peripheral blood. Leukemia cutis is considered a grave prognostic sign, thus early diagnosis is important. Leukemia cutis usually occurs in patients with myeloid leukemia. To the best of our knowledge, there has been no report regarding the radiological findings of aleukemic leukemia cutis, which is probably due to the presence of the skin changes in most patients. We report the ultrasound and MR findings of aleukemic leukemia cutis, even without the skin manifestation in patients with a history of complete remission of the acute lymphoblastic leukemia following an allogeneic peripheral blood stem cell transplantation

  17. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

    Energy Technology Data Exchange (ETDEWEB)

    Devriendt, K.; Matthijs, G.; Legius, E. [Univ. Hospital Gasthuisberg, Leuven (Belgium)] [and others

    1997-03-01

    In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation. 23 refs., 4 figs., 1 tab.

  18. Pachyonychia congenita with woolly hair in a ten month old infant

    Directory of Open Access Journals (Sweden)

    Ehsani Amirhushang

    2008-01-01

    Full Text Available A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings included scalp kinky hair and dental caries. Past medical and family history had remarkable findings such as natal teeth and similar skin lesions in her older brother since his infancy. The patients′ clinical presentations and history are compatible with pachyonychia congenita presenting with concomitant features of both subtypes 1 and 2.

  19. [Bilateral deep venous thrombosis and vena cava aplasia treated with local thrombolysis

    DEFF Research Database (Denmark)

    Pelta, A.M.; Jørgensen, Maja; Just, Sven Richardt Lundgren; Jensen, Leif Pandora

    2008-01-01

    In this case report the treatment of a young man with bilateral iliaco-femoral DVT and vena cava aplasia is presented. The patient was treated with catheter-directed thrombolysis; the catheters were introduced in the thrombus of both legs via v. popliteae. The treatment led to almost complete thr...... thrombus resolution and no valvular incompetence at three months follow-up. In our opinion this treatment should be offered even in complex cases of acute proximal deep venous thrombosis Udgivelsesdato: 2008/5/19......In this case report the treatment of a young man with bilateral iliaco-femoral DVT and vena cava aplasia is presented. The patient was treated with catheter-directed thrombolysis; the catheters were introduced in the thrombus of both legs via v. popliteae. The treatment led to almost complete...

  20. Pulmonary Sequestration with Renal Aplasia and Elevated SUV Level in PET/CT

    Directory of Open Access Journals (Sweden)

    Serdar Şen

    2012-01-01

    Full Text Available Extralobar sequestration with other bronchopulmonary malformations is commonly seen; however, the association of extralobar sequestration with renal aplasia is very rare. A 75-year-old female patient was admitted with back pain. Ultrasonography revealed aplasia of the left kidney and tomography showed 6×4.5 cm sized tumor in the left hemithorax at the posterobasal area. The lesion has focally increased glycolytic activity (SUVmax: 3.2 at the left upper pole on positron emission tomography scan (PET/CT. Sequestrectomy was performed after the confirmation by frozen section that the lesion was benign and of extrapulmonary sequestration. No complication occurred during postoperative and 50-month follow-up period.

  1. Segmental aplasia of the uterine horn with ipsilateral renal agenesis in a cat.

    Science.gov (United States)

    Chang, Jinhwa; Jung, Joo-hyun; Yoon, Junghee; Choi, Min-cheol; Park, Jae Hak; Seo, Kang-Moon; Jeong, Seong Mok

    2008-06-01

    A nine-month-old domestic short haired cat was admitted with the history of acute vomiting, depression and shivering. Abdominal ultrasonography revealed minimum enlargement of the right uterine horn filled with anechoic fluid. On excretory urography, functionally and anatomically normal, enlarged left kidney was found, but right kidney was absent. It was preliminary diagnosed as hydrometra with right renal agenesis. Aiming at the correction of hydrometra, we performed ovariohysterectomy. During spaying, we found a missing segment of distal part of the right uterine horn and absence of ipsilateral kidney and ureter. Compressed uterine structure and segmental aplasia of right uterine horn were found in histopathological investigation. Taken together, it was diagnosed as a segmental aplasia of uterine horn with ipsilateral renal agenesis. PMID:18628611

  2. Anti-Erythropoietin Antibody Associated Pure Red Cell Aplasia Resolved after Liver Transplantation

    OpenAIRE

    Hung, Annie K.; Jennifer Guy; Behler, Caroline M.; Lee, Eugene E.

    2015-01-01

    Patients undergoing antiviral therapy for chronic hepatitis C often develop anemia secondary to ribavirin and interferon. Recombinant erythropoietin has been used to improve anemia associated with antiviral therapy and to minimize dose reductions, which are associated with decreased rates of sustained virologic response. A rare potential side effect of recombinant erythropoietin is anti-erythropoietin antibody associated pure red cell aplasia. In chronic kidney disease patients with this enti...

  3. Etanercept-Associated Transient Bone Marrow Aplasia: A Review of the Literature and Pathogenetic Mechanisms

    OpenAIRE

    Kozak, Natasha; Friedman, Joshua; Schattner, Ami

    2014-01-01

    A patient with rheumatoid arthritis presented with increasing fatigue, fever, gingival bleeding, and petechial rash. Her symptoms started 1 week after the first injection of etanercept (Enbrel). Her only other medications (methotrexate and hydroxychloroquine) had been unchanged for years. Tests revealed severe pancytopenia and bone marrow aplasia. She recovered with supportive treatment within 12 days. The literature on serious blood dyscrasias associated with anti-tumor necrosis factor-α the...

  4. Familial atrophia maculosa varioliformis cutis: First case report from the Indian subcontinent with pedigree analysis

    Directory of Open Access Journals (Sweden)

    Tarang Goyal

    2012-01-01

    Full Text Available Familial atrophia maculosa varioliformis cutis is a very rare disorder with less than 28 cases being reported in the literature worldwide and remains a mystery both as far as genetics and the virtue of its pathogenesis is concerned. We present a case of mother and son, both having this disorder with presentations unique in terms of sites involved and try to draw a five generations pedigree chart for the same. We further support its inheritance pattern as autosomal dominant. Also, we propose oral isotretinoin as an effective treatment modality for the same.

  5. The effect of simultaneous electron and Kr/sup +/ irradiation on amorphization of CuTi

    Energy Technology Data Exchange (ETDEWEB)

    Koike, J.; Okamoto, P.R.; Rehn, L.E.; Meshii, M.

    1989-01-01

    CuTi was irradiated with 1-MeV electrons and Kr/sup +/ ions simultaneously at temperatures from 10 to 423 K. Retardation of Kr/sup +/-induced amorphization was observed with simultaneous electron irradiation at 295 and 423 K. The retardation effect increased with increasing irradiation temperature and relative electron-to-Kr dose rate. In contrast, simultaneous irradiation below 100 K showed an additive effect of electron- and Kr/sup +/-induced amorphization. The results can be explained by the mobility point defects introduced by electron irradiation interacting with Kr/sup +/-induced displacement cascades. 6 refs., 6 figs.

  6. The effect of simultaneous electron and Kr+ irradiation on amorphization of CuTi

    International Nuclear Information System (INIS)

    CuTi was irradiated with 1-MeV electrons and Kr+ ions simultaneously at temperatures from 10 to 423 K. Retardation of Kr+-induced amorphization was observed with simultaneous electron irradiation at 295 and 423 K. The retardation effect increased with increasing irradiation temperature and relative electron-to-Kr dose rate. In contrast, simultaneous irradiation below 100 K showed an additive effect of electron- and Kr+-induced amorphization. The results can be explained by the mobility point defects introduced by electron irradiation interacting with Kr+-induced displacement cascades. 6 refs., 6 figs

  7. A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis

    OpenAIRE

    Donahue, Leah Rae; Chang, Bo; Mohan, Subburaman; MIYAKOSHI, NAO; Wergedal, Jon E.; Baylink, David J.; Hawes, Norman L.; Rosen, Clifford J.; WARD-BAILEY, PATRICIA; Zheng, Qing Y.; Roderick T Bronson; Johnson, Kenneth R.; Davisson, Muriel T.

    2003-01-01

    A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita. In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model offers a useful tool for molecular and biological studies of bone development and pathology.

  8. Cu-Ti Formation in Nb-Ti/Cu Superconducting Strand Monitored by in situ Techniques

    CERN Document Server

    Pong, I; Pong, Ian; Gerardin, Alexandre; Scheuerlein, Christian; Bottura, Luca

    2010-01-01

    In order to investigate the high temperature exposure effect on Nb-Ti/Cu superconducting strands, as might be encountered in joining by soldering and in cabling annealing, X-ray diffraction and resistometry measurements were performed in situ during heat treatment, and complemented by conventional metallography, mechanical tests and superconducting properties measurements. Changes of the Nb-Ti nanostructure at temperatures above 300 degrees C are manifested in the degradation of critical current in an applied external magnetic field, although degradation at self field was insignificant up to 400 degrees C for several minutes. Above 500 degrees C, the formation of various Cu-Ti intermetallic compounds, due to Ti diffusion from Nb-Ti into Cu, is detected by in situ XRD albeit not resolvable by SEM-EDS. There is a ductile to brittle transition near 600 degrees C, and liquid formation is observed below 900 degrees C. The formation of Cu-Ti causes a delayed reduction of the residual resistivity ratio (RRR) and adv...

  9. Dermabrasion-Loo-punch-excision technique for the treatment of acne-induced osteoma cutis.

    Science.gov (United States)

    Fulton, J E

    1987-06-01

    Three patients with chronic osteoma cutis secondary to acne vulgaris were treated with the dermabrasion-Loo-punch-excision technique. Under regional nerve block with lidocaine-bipuvacaine (50:50) a uniform dermabrasion was performed across the entire face, including the hairline and 1 cm below the jawline. This exposed the foci of osteoma cutis. Then the appropriate sized Loo punch (usually the 2.0- or the 2.5-mm punch) was used to excise the bluish-gray miliary lesions. The majority of the foci were removed in one operation. Following excision, the lesions were closed with 7-0 prolene suture. To prevent crust formation postoperatively, Aloe-vera-soaked polyethylene oxide gel dressings (Vigilon) were changed twice daily following an ice water compress. Sutures were removed rapidly in 5 to 7 days to prevent the appearance of suture lines. Although one patient required an additional procedure, the cosmetic results were excellent. Only a few small residual blue "dot" lesions remained in these three cases. PMID:2953769

  10. Liver Transplantation After Bone Marrow Transplantation for End Stage Liver Disease with Severe Hepatopulmonary Syndrome in Dyskeratosis Congenita: A Literature First.

    Science.gov (United States)

    Mahansaria, Shyam Sunder; Kumar, Senthil; Bharathy, Kishore G S; Kumar, Sachin; Pamecha, Viniyendra

    2015-12-01

    Dyskeratosis congenita is a multisystem genetic disorder. Although hepatic involvement is reported in about 7% of patients with dyskeratosis congenita, it is not well characterized and often attributed to hemochromatosis from frequent blood transfusions. A few case reports describe cirrhosis and hepatic cell necrosis in affected individuals in autosomal dominant pedigrees. Bone marrow failure and malignancies are the principal causes of death in dyskeratosis congenita. We describe the first case of living donor liver transplantation, in dyskeratosis congenita for decompensated cirrhosis with portal hypertension. The patient also had associated severe hepatopulmonary syndrome, interstitial lung disease, bilateral hip replacement for avascular necrosis of the head of femur, and a past history of bone marrow transplantation for bone marrow failure. PMID:26900277

  11. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

    Directory of Open Access Journals (Sweden)

    Gao Feng

    2010-12-01

    Full Text Available Myotonia congenita (MC is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1. To date, approximately 130 different mutations on the CLCN1 gene have been identified. However, most of the studies have focused on Caucasians, and reports on CLCN1 mutations in Chinese population are rare. This study investigated the mutation of CLCN1 in two Chinese families with MC. Direct sequencing of the CLCN1 gene revealed a heterozygous mutation (892G>A, resulting in A298T in one family and a compound heterozygous mutations (782A>G, resulting in Y261C; 1679T>C, resulting in M560T in the other family, None of the 100 normal controls had these mutations. Our findings add more to the available information on the CLCN1 mutation spectrum, and provide a valuable reference for studying the mutation types and inheritance pattern of CLCN1 in the Chinese population.

  12. A case of severe congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasia

    Energy Technology Data Exchange (ETDEWEB)

    Geoffray, Anne; Leloutre, Beatrice; Albertario, Marco; Bechard-Sevette, Nancy [Fondation Lenval Children' s Hospital, Department of Pediatric Imaging, Nice (France); Clement, Jean-Luc [Fondation Lenval Children' s Hospital, Department of Orthopedic and Spine Surgery, Nice (France)

    2008-07-15

    A 9-month-old boy with congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasias is presented. This anomaly has rarely been described in the literature. Plain films showed absence of thoracic pedicles bilaterally from T2 to T9, which was better demonstrated on CT multiplanar and 3-D reformatted images. There were no neurological symptoms even though the deformity progressed rapidly. Congenital kyphosis or kyphoscoliosis is often related to spinal anomalies that are located on the anterior aspect of the vertebrae. However, posterior anomalies may also be responsible and should be recognized before neurological complications occur. (orig.)

  13. [Aplasia and hypoplasia of the side of the nose in the Mocha Period and today].

    Science.gov (United States)

    Pirsig, W

    1989-01-01

    In earthenware vessels from the Moche period (200-700 A.D.) pathological findings of nasal deformities have been depicted in a realistic manner. By means of two recent casuistics and of two portrait vessels of Old Peru it is demonstrated how exactly the nasal pathology was observed by the artists of the Moche period. The first example shows a unilateral hypoplasia of the nasal ala due to injury in early childhood, the second example shows a bilateral aplasia of the nasal alae due to an intrauterine growth disturbance. PMID:2690796

  14. Prenatal ultrasonography of trisomy 18 with radial aplasia: A case report

    International Nuclear Information System (INIS)

    Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18 (47 XX, +18, and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.

  15. Prenatal ultrasonography of trisomy 18 with radial aplasia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jee Young; Lee, Yeon Hee [Dankook University College of Medicine, Seoul (Korea, Republic of)

    2002-06-15

    Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18 (47 XX, +18, and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.

  16. Pure red cell aplasia due to azathioprine therapy for Crohn′s disease

    Directory of Open Access Journals (Sweden)

    Nagesh Kamath

    2016-01-01

    Full Text Available Various mechanisms contribute to anemia in inflammatory bowel diseases (IBD, drug-related causes being less frequent. The hematological and other adverse events of azathioprine (AZA therapy are well documented, but drug-associated pure red cell aplasia (PRCA is an uncommon event. We hereby describe two cases of AZA-associated PRCA in patients with Crohn′s disease. The diagnosis was supported by pathological reports, and prompt hematological recovery was seen with discontinuation of the offending drug. This report highlights the need to consider this rare entity in IBD patients in appropriate settings and for adopting adequate precautionary measures.

  17. Aplasia pura de serie roja post-trasplante alogeneico de células progenitoras hematopoyeticas ABO incompatible

    OpenAIRE

    E. Bulliorsky; C. Shanley; G. Stemmelin; J. Ceresetto; O. Rabinovich

    2002-01-01

    El trasplante alogeneico de células progenitoras hematopoyéticas (TCPH) con incompatibilidad ABO entre el donante y el receptor puede en ocasiones asociarse a trastornos en la progenie eritroide desarrollada a partir de la médula ósea trasplantada, caracterizado por un funcionamiento tardío, inadecuado e incompleto de la misma. En este contexto, la aplasia pura de serie roja es la complicación más severa. Se han intentado tratamientos para la aplasia pura de serie roja post-TCPH con eritropoy...

  18. Sindrome da Cutis Laxa Ligada ao X: Caso Clínico

    OpenAIRE

    Lobo, Ana Luísa; Teixeira, Sandra; Tomás, Edite; Azevedo, Afonso; Reis, Armando

    2014-01-01

    A Síndrome da Cutis Laxa Ligada ao X ou síndrome do "Corno Occipital" é uma doença genética rara, de transmissão recessiva ligada ao cromossoma X, associada a um defeito do metabolismo do cobre.Apresenta-se um caso clínico deste síndrome numa criança com hiperlaxidez articular, hérnias inguinais recidivantes, fragilidade cutânea e ainda malformação urológica associando uma obstrução pieloureteral à direita e volumosos divertículos vesicais. Salienta-se o facto da obstrução da junção pielouret...

  19. Disproportionately severe calcinosis cutis in an 88-year-old patient with CREST syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Buchowski, J.M.; Ahn, N.U.; Ahn, U.M. [Dept. of Orthopaedic Surgery, Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States); McCarthy, E.F. [Dept. of Orthopaedic Surgery, Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States); Dept. of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD (United States); Mehta, M.B. [Clinical Associates, Good Samaritan Hospital, Baltimore, MD (United States)

    2001-08-01

    An 88-year-old woman with CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) presented with hyperglycemia, intravascular depletion, and atrial fibrillation. The patient was found to have unusually severe calcinosis cutis in both legs extending from the knees to the ankles bilaterally, as well as Raynaud's phenomenon, sclerodactyly, and telangiectasias. The patient was normocalcemic and normophosphatemic. Although subcutaneous calcification is often seen with CREST syndrome, this case is unusual in that the area of involvement was much larger than previously described. Furthermore, the amount of calcinosis was disproportionately severe and was the major cause of symptoms and disability compared with the other components of the syndrome. (orig.)

  20. Relations between chemical short range order and stability in CuTi glasses

    International Nuclear Information System (INIS)

    The measurement of CSRO(chemical short range order) parameter α was made for CuTi glass by using a combination of X-ray and neutron data. Parent ingots of seven specimens Cu(x)Ti(1-x), where x = 0.31, 0.35, 0.39, 0.43, 0.70, 0.72 and 0.75, were prepared by argon arc melting of spectroscopically pure constituents. The crystallization temperature T(x) of the glasses was measured using a Perkin-Elmer DSC2 calorimeter at a heating rate of 80 K/min. The values of T(x) were between 627 K and 701 K, and were highest for x between 0.6 and 0.7, while the deepest eutectic was at 1123 K for x of 0.73. X-ray measurement was made with Mo-K(α) radiation using a vertical goniometer with a graphite curved-crystal monochromater. Neutron experiment was made using the Curran and 10 H diffractometers at AERE Harwell, and the D4 diffractometer at ILL Grenoble. The structure factors S(Q) were obtained. The main features of this study were the strong correlation between both chemical and topological aspects of structure. The values of T(x) and T(x)/T(m), where T(m) means the liquidus temperature, and T(x)/T(m) is the reduced crystallization temperature, are shown in a table and a figure. There is a maximum at the value of x of 0.65. The CSRO, centered about the 2/1 of Cu/Ti ratio, would appear to have a substantial effect in enhancing the thermal stability of the glass manifested by the peak in T(x). This is consistent with a strong chemical interaction between unlike atoms and with the minimum in interatomic distance. (Kato, T.)

  1. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

    OpenAIRE

    Huang, Xiangjun; Deng, Xiong; Xu, Hongbo; Wu, Song; Yuan, Lamei; Yang, Zhijian; Yang, Yan; DENG, HAO

    2015-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study sugge...

  2. Aleukemic Leukemia Cutis Manifesting with Disseminated Nodular Eruptions and a Plaque Preceding Acute Monocytic Leukemia: A Case Report

    Science.gov (United States)

    Yonal, Ipek; Hindilerden, Fehmi; Coskun, Raif; Dogan, Oner Ibrahim; Nalcaci, Meliha

    2011-01-01

    Aleukemic leukemia cutis (ALC), a discrete tumor of leukemic cells involving the skin, may be the first manifestation of acute myeloid leukemia, preceding the onset in marrow and blood by months and years. ALC is often difficult to diagnose and is associated with a dismal prognosis. A 63-year-old male presented with nodular swellings on the face, a plaque extending over the right shoulder and multiple enlarged cervical lymph nodes. The skin biopsy of the plaque lesion showed a diffuse neoplastic infiltration extending from the dermis to subcutaneous tissue with diffuse positivity for myeloperoxidase and focal positivity for CD34 on immunohistochemical staining. The diagnosis was leukemia cutis. One month later, acute monocytic leukemia (FAB AML-M5b) was diagnosed. The patient died on the seventh month of diagnosis. PMID:22187541

  3. Atrichia congenita

    Directory of Open Access Journals (Sweden)

    Marfatia Y

    1991-01-01

    Full Text Available Three sisters aged 10, 13 and 14, presented with absence of scalp and facial hair. The youngest sister had scalp hair at birth, but had hair fall later, while the other two did not have hair at birth. Three other siblings had normal long hair, and there was no family history of any similar condition. Examination showed complete absence of scalp, axillary and pubic hair in all the three sisters.

  4. Atrichia congenita

    OpenAIRE

    Marfatia Y; Sankar Rajesh

    1991-01-01

    Three sisters aged 10, 13 and 14, presented with absence of scalp and facial hair. The youngest sister had scalp hair at birth, but had hair fall later, while the other two did not have hair at birth. Three other siblings had normal long hair, and there was no family history of any similar condition. Examination showed complete absence of scalp, axillary and pubic hair in all the three sisters.

  5. Cutis Laxa

    Science.gov (United States)

    ... 2 Diabetes, Heart Disease a Dangerous Combo Are 'Workaholics' Prone to OCD, Anxiety? ALL NEWS > Resources First ... is a rare disorder of connective tissue that causes the skin to stretch easily and hang in ...

  6. Cutis verticis gyrata in a patient with multiple basal cell carcinomas; case presentation and review of the literature

    OpenAIRE

    Simona-Roxana Georgescu; Maria Isabela Sârbu; Cristina-Iulia Mitran; Mădălina-Irina Mitran; Alice Rusu; Vasile Benea; Mircea Tampa

    2016-01-01

    Cutis verticis gyrata is a rare disease characterized by convoluted folds and deep furrows of the scalp, resembling the gyri and sulci of the cerebral cortex. Basal cell carcinoma is the most frequent cancer in Caucasians, patients frequently presenting multiple tumors. We report the case of a 62 year old male, Caucasian patient, from the urban area, who addressed the dermatology department of our hospital for multiple tumors located on the face and upper trunk. A careful examination revealed...

  7. Effect of sintering temperature on the preparation of Cu-Ti3SiC2 metal matrix composite

    Institute of Scientific and Technical Information of China (English)

    Tungwai L.Ngai; Wei Zheng; Yuanyuan Li

    2013-01-01

    Ti3SiC2 has the potential to replace graphite as reinforcing particles in Cu matrix composites for applications in brush, electrical contacts and electrode materials. In this paper the fabrication of Cu-Ti3SiC2 metal matrix composites prepared by warm compaction powder metallurgy forming and spark plasma sintering (SPS) was studied. The stability of Ti3SiC2 at different sintering temperatures was also studied. The present experimental results indicate that the reinforcing particles in Cu-Ti3SiC2 composites are not stable at and above 800 1C. The decomposition of Ti3SiC2 will lead to the formation of TiC and/or other carbides and TiSi2. If purity is the major concern, the processing and servicing temperatures of the Cu-Ti3SiC2 composite should be limited to 750 1C or lower. The composites prepared by warm compaction forming and SPS sintering at 750 1C have lower density when compared with the composites prepared by SPS sintering at 950 1C, but their electrical resistivity values are very close to each other and even lower.

  8. Aplasia pura de serie roja post-trasplante alogeneico de células progenitoras hematopoyeticas ABO incompatible

    Directory of Open Access Journals (Sweden)

    E. Bulliorsky

    2002-12-01

    Full Text Available El trasplante alogeneico de células progenitoras hematopoyéticas (TCPH con incompatibilidad ABO entre el donante y el receptor puede en ocasiones asociarse a trastornos en la progenie eritroide desarrollada a partir de la médula ósea trasplantada, caracterizado por un funcionamiento tardío, inadecuado e incompleto de la misma. En este contexto, la aplasia pura de serie roja es la complicación más severa. Se han intentado tratamientos para la aplasia pura de serie roja post-TCPH con eritropoyetina o plasmaféresis, con relativo éxito. Algunos autores han informado también la utilización de globulina antilinfocitaria, asumiendo que dicha aplasia selectiva de la serie roja en la médula ósea trasplantada es mediada por un mecanismo inmune. En este trabajo se describe un paciente portador de una leucemia aguda en quien se realizó un TCPH alogeneico (ABO incompatible con su donante. Teniendo niveles bajos de aglutininas contra el grupo sanguíneo de la donante, desarrolló una aplasia pura de serie roja post - TCPH. La misma no mejoró con tratamiento con eritropoyetina o con un refuerzo de progenitores hematopoyéticos de sangre periférica de la misma donante (boost, resolviéndose totalmente luego de un tratamiento exitoso con globulina antilinfocitaria de origen equino.

  9. New experimental approach to treatment of radiation-induced bone marrow aplasia: ex vivo expansion of hematopoietic cells

    International Nuclear Information System (INIS)

    The management of bone marrow aplasia secondary to accidental exposure to high doses of ionizing radiations requires new therapeutic protocols in addition to cytokine therapy. The in vitro incubation of hematopoietic stem and progenitor cells from irradiated nonhuman primates with negative and positive regulators of hematopoiesis may lead to helpful products of transfusion. (author)

  10. Post renal transplant pure red cell aplasia-is tacrolimus a culprit?

    Science.gov (United States)

    Patil, Malagouda R; Choudhury, Arpita Roy; Chohwanglim, Manong; Divyaveer, Smita; Mahajan, Chetan; Pandey, Rajendra

    2016-08-01

    Anemia is not uncommon in the post-renal transplant period and has been reported in up to 40% of renal transplant recipients. It is commonly due to drugs and infections. While post-transplantation anemia is usually due to graft dysfunction and drugs such as mycophenolate and cotrimoxazole, tacrolimus is an uncommon cause. Tacrolimus is usually not believed to be significantly myelosuppressive, but it can cause anemia due to thrombotic microangiopathy. A literature review shows a very small number of reported cases of pure red cell aplasia (PRCA) where tacrolimus seemed to be a causative agent. We report a case series of three renal transplant recipients who were on tacrolimus and presented with chronic transfusion requiring anemia due to PRCA. PMID:27478605

  11. Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

    Directory of Open Access Journals (Sweden)

    Jinxin Li

    2015-06-01

    Full Text Available Paramyotonia congenita (PC is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC.

  12. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  13. A novel mutation in CLCN1 associated with feline myotonia congenita.

    Directory of Open Access Journals (Sweden)

    Barbara Gandolfi

    Full Text Available Myotonia congenita (MC is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1. CLCN1 encodes for the most abundant chloride channel in the skeletal muscle cell membrane. Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. All cats had blepharospasm upon palpebral reflex testing and a short-strided gait. Electromyograms demonstrated myotonic discharges at a mean frequency of 300 Hz resembling the sound of a 'swarm of bees'. Muscle histopathology showed hypertrophy of all fiber types. Direct sequencing of CLCN1 revealed a mutation disrupting a donor splice site downstream of exon 16 in only the affected cats. In vitro translation of the mutated protein predicted a premature truncation and partial lack of the highly conserved CBS1 (cystathionine β-synthase domain critical for ion transport activity and one dimerization domain pivotal in channel formation. Genetic screening of the Winnipeg random bred population of the cats' origin identified carriers of the mutation. A genetic test for population screening is now available and carrier cats from the feral population can be identified.

  14. "Dermatoglyphic Observations in an Iranian Girl Affected with Congenital Cutis Laxa (Autosomal Recessive"

    Directory of Open Access Journals (Sweden)

    H Pour-Jafari

    2003-08-01

    Full Text Available The aim of the this work was to determine the finger patterns, Finger Ridge Count (FRC, Total Finger Ridge Count (TFRC, and Asymmetry of Finger Ridge Count (AFRC of an Iranian girl (aged 13 years affected with congenital cutis laxa (CCL.The fingerprints of the first phalanx of both hands were taken by using the standard method (stamp ink. The fingerprints were classified according to the Galton nomenclature. The patterns of palm creases were also studied. Besides, the ridges of fingerprints of all ten fingers were counted, then employing the related formulas, the FRC, TFRC and AFRC were calculated.Results showed that the finger patterns of all ten fingers were radial loop; the major creases of the palms existed but their sizes were not normal. TFRC, which is the sum of all ten FRCs, was 77 (“low”, and AFRC was 10.344, more than that of her normal sister, that was 7.280. It is concluded that in CCL, the TFRC and symmetry of the fingertips ridges count may decrease; also palm pattern may be unusual.

  15. Recurrence of thymoma with pleural invasion in a patient with myasthenia gravis and pure red blood cell aplasia: a case report

    International Nuclear Information System (INIS)

    Thymoma are thymic tumors that arise from epithelial cells, they have different morphological characteristics. It is known for its association with autoimmune diseases such as myasthenia gravis, pure red cell aplasia, systemic lupus erythematosus, or hipogamaglobulinemia pemphigus foliaceus. The association thymoma-myasthenia gravis-pure red cell aplasia is a rare one; there will be a case report with the corresponding discussion and review of the literature

  16. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

    DEFF Research Database (Denmark)

    Dunø, Morten; Colding-Jørgensen, Eskild; Grunnet, Morten; Jespersen, Thomas; Vissing, John; Schwartz, Marianne

    2004-01-01

    Mutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC). The recessive form, Becker's myotonia, is believed to be caused by two loss-of-function mutations, whereas the dominant form, Thomsen's myotonia, is assumed to...... be a consequence of a dominant-negative effect. However, a subset of CLCN1 mutations can cause both recessive and dominant MC. We have identified two recessive and two dominant MC families segregating the common R894X mutation. Real-time quantitative RT-PCR did not reveal any obvious association...

  17. Incidental finding of unilateral isolated aplasia of serratus anterior muscle and winged scapula on chest radiograph: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Joon Sung; Park, Hyun Jin; Ko, Jeong Min [Dept. of Radiology, St. Vincent' s Hospital, College of Medicine, The Catholic University of Korea, Suwon (Korea, Republic of)

    2014-10-15

    The isolated aplasia of the serratus anterior muscle with winging of scapula is very rare, and only a few cases are reported. Here, we present a case of a 30-year-old Korean male who initially presented with a left flank pain. His physical exam did not show any significant finding in his right shoulder. However, his chest radiograph showed absence of right serratus anterior muscle and slightly elevated and medially rotated right scapula. Subsequent CT scan showed the right serratus anterior muscle aplasia and medial winging of the right scapula. This case is unique in two aspects. First, the combination of abnormalities is different from the typical congenital abnormalities involving shoulder girdle, such as Sprengel deformity or Poland syndrome. Secondly, this was incidentally diagnosed with chest radiograph, without clinical impression. Careful reading of chest radiograph can help the radiologists to detect such clinically silent abnormalities.

  18. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea.

    Science.gov (United States)

    Kumar, Sunil; Sharma, Shruti

    2016-04-01

    The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature. We report a case of young female with primary amenorrhoea. She had well-developed secondary sexual characteristics along with multiple congenital developmental abnormalities such as the absence of uterus, ectopic kidney, cervical vertebral fusion, hemivertebrae, scoliosis, cervical rib, facial asymmetry and growth retardation. Our case highlights the rarity and clinical importance of this syndrome. For the evaluation of primary amenorrhoea in a female with well-developed secondary sexual characteristics, congenital anomalies should be ruled out before hormone and karyotype analyses. PMID:27099773

  19. Incidental finding of unilateral isolated aplasia of serratus anterior muscle and winged scapula on chest radiograph: A case report

    International Nuclear Information System (INIS)

    The isolated aplasia of the serratus anterior muscle with winging of scapula is very rare, and only a few cases are reported. Here, we present a case of a 30-year-old Korean male who initially presented with a left flank pain. His physical exam did not show any significant finding in his right shoulder. However, his chest radiograph showed absence of right serratus anterior muscle and slightly elevated and medially rotated right scapula. Subsequent CT scan showed the right serratus anterior muscle aplasia and medial winging of the right scapula. This case is unique in two aspects. First, the combination of abnormalities is different from the typical congenital abnormalities involving shoulder girdle, such as Sprengel deformity or Poland syndrome. Secondly, this was incidentally diagnosed with chest radiograph, without clinical impression. Careful reading of chest radiograph can help the radiologists to detect such clinically silent abnormalities.

  20. Ex vivo expansion of haematopoietic cells in the treatment of accidental irradiation-induced aplasia. Feasibility Studies

    International Nuclear Information System (INIS)

    The lessons learnt from the treatment of previous radiation accidents using either bone marrow transplantation or growth factor therapy suggest that it is of importance to investigate new therapeutic regiments. Ex vivo expansion of haematopoietic stem cells, precursors and differentiated cells is a new approach of growth factor therapy which may be of interest for the treatment of patients with irradiation-induced bone marrow aplasia. Ex vivo expanded maturing cells could be used to limit the early risks bound to aplasia (infections related to granulocytopaenia, bleedings associated with thrombocytopaenia), whereas expanded immature cells could hasten haematopoietic recovery. Indeed, it is possible to culture from the blood or bone marrow the cells able to proliferate and differentiate. A sufficient quantity of cells to cover the transfusion needs of a radiation victim through an aplasia episode can be produced, in presence of a specific growth factor combination. Qualitative studies shows that the expanded cells exhibit a close to normal functionality. Long-term culture techniques demonstrate the expansion of immature cells. We have set up a high dose total body irradiation non-human primate model in order to study the therapeutic potential of ex vivo expansion of autologous progenitors and differentiating cells. All the steps of the process (sampling, positive selection of the immature cells, ex vivo expansion, irradiation of the animals, reinjection of the cultured cells and study of the outcome) are established. In order to allow the long term follow up of the ex vivo expanded haematopoietic cells (homing to the bone marrow or localization to specific organs for example), a retroviral gene transfer technique for transduction of green fluorescence protein (GFP) gene toward the selected immature blood or bone marrow cells is under development in this model. Taken together these elements will allow establishing the feasibility of ex vivo expansion of

  1. Spondyloepiphseal dysplasia congenita in siblings born to unaffected parents: ? germ line mosaicism

    Energy Technology Data Exchange (ETDEWEB)

    Mulla, W.; McDonald-McGinn, D.; Zackai, E. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)] [and others

    1994-09-01

    Germ line mosaicism has been used to explain the birth of more than one child affected with a dominantly inherited disorder born to unaffected parents. Furthermore, it has been confirmed clinically in families where recurrence in siblings was originally thought to be autosomal recessive, but were affected individuals have reproduced affected offspring. Firm evidence of germ line mosaicism using mutation analysis by molecular methods exists for some autosomal disorders. We present two siblings with spondyloepipheseal dysplasia congenita (SEDC) born to unaffected parents. This suggests the presence of germ line mosaicism in this entity. Patient 1 was born at 32 weeks gestation to a G1P1 Puerto Rican mother. The pregnancy was complicated by polyhydramnios. The neonate, a short-limbed dwarf, died at 15 hours of age from respiratory distress and a compromised thoracic cavity. Patient 2, the sibling of patient 1 was born at 37 weeks gestation after a pregnancy complicated by polyhydramnios and prenatal ultrasound diagnosis of short-limbed dwarfism. The diagnosis of SEDC was made and, after review of the sibling`s postmortem X-rays, it was felt that she was similarly affected. The family history reveals no history of dwarfism or consanguinity. The SEDC is described as an autosomal dominant form of dwarfism with variable presentation including some cases that have been lethal in the neonatal period. SEDC is now believed to represent a family of collagen II mutations. Sporadic cases that have arisen in families with no history have been ascribed to new heterozygous mutations. Other families in which SEDC and SEMD recurred without a family history most likely represent germ line mosaicism. In these cases molecular studies should be pursued to document a collagen II mutation. We believe that germ line mosaicism is the most plausible explanation for recurrence in our family.

  2. Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.

    Science.gov (United States)

    Portaro, Simona; Altamura, Concetta; Licata, Norma; Camerino, Giulia M; Imbrici, Paola; Musumeci, Olimpia; Rodolico, Carmelo; Conte Camerino, Diana; Toscano, Antonio; Desaphy, Jean-François

    2015-09-01

    Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle. More than 200 CLCN1 mutations have been associated with MC. We provide herein a detailed clinical, molecular, and functional evaluation of four patients with recessive MC belonging to three different families. Four CLCN1 variants were identified, three of which have never been characterized. The c.244A>G (p.T82A) and c.1357C>T (p.R453W) variants were each associated in compound heterozygosity with c.568GG>TC (p.G190S), for which pathogenicity is already known. The new c.809G>T (p.G270V) variant was found in the homozygous state. Patch-clamp studies of ClC-1 mutants expressed in tsA201 cells confirmed the pathogenicity of p.G270V, which greatly shifts the voltage dependence of channel activation toward positive potentials. Conversely, the mechanisms by which p.T82A and p.R453W cause the disease remained elusive, as the mutated channels behave similarly to WT. The results also suggest that p.G190S does not exert dominant-negative effects on other mutated ClC-1 subunits. Moreover, we performed a RT-PCR quantification of selected ion channels transcripts in muscle biopsies of two patients. The results suggest gene expression alteration of sodium and potassium channel subunits in myotonic muscles; if confirmed, such analysis may pave the way toward a better understanding of disease phenotype and a possible identification of new therapeutic options. PMID:26007199

  3. Aplasia transitória da série vermelha na anemia falciforme Transient red cell aplasia in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Mônica P. A. Veríssimo

    2007-09-01

    Full Text Available A doença falciforme, devido à vida média encurtada das hemácias, pelo quadro de hemólise crônica, pode apresentar um quadro clínico grave de anemia quando ocorre supressão da eritropoese devida à infecção pelo Parvovírus humano B19. O quadro clínico apresenta-se com febre, que pode preceder a anemia grave, fraqueza e mal- estar, além de sinais laboratoriais como queda da hemoglobina e reticulocitopenia importante. Diagnóstico laboratorial pode ser por imunofluorescência ou ensaio enzimático. O tratamento é a transfusão de concentrado de hemácias. Pode haver complicações associadas a esta infecção, tais como seqüestro esplênico, seqüestro hepático, síndrome torácica aguda, síndrome nefrótica, meningoencefalite e acidente vascular cerebral. Estratégias de prevenção poderão mudar a morbi-mortalidade desta condição no paciente portador de doença falciforme.Sickle cell disease due to shortened life span of red blood cells by hemolysis, may present with severe anemia when erythropoietic suppression occurs due to infection by the Human parvovirus B19. The clinical presentation presents with fever, which may precede transient red cell aplasia, as well as laboratorial signs such as a drop in hemoglobin and significant reticulo cytopenia. Laboratorial diagnosis may be by immunofluorescence or enzymatic assays. Treatment is achieved by transfusion of packed red blood cells. Complications may be associated to this infection, including splenic and hepatic sequestration, acute chest syndrome, nephrotic syndrome, meningoencephalitis and strokes. Strategies of prevention are able to change the morbidity and mortality of this condition in sickle cell disease patients.

  4. Absence of Clinical and Hemodynamic Consequences due to Posterior Tibial Artery Congenital Aplasia

    Directory of Open Access Journals (Sweden)

    Georgios Karaolanis

    2015-01-01

    Full Text Available The exact knowledge of popliteal artery and its branches’ anatomic variations is important for the clinical practice of angiology, vascular surgery, and interventional procedures. Congenital absence of the artery leads, in some cases, to early malformations of the extremity in the childhood; however, it may also remain asymptomatic. We present an unusual case of a 76-year-old male patient complaining of paraesthesia in both limbs and bilateral aplasia of posterior tibial artery (PTA. Physical examination, ankle-brachial indexes, before and after exercise, arterial duplex scan, and magnetic resonance arteriography were performed. Arterial pulses for PTA at the level of the ankle were normal; arterial duplex study showed biphasic arterial flow at the level of the ankle. Color duplex ultrasound as well as magnetic resonance arteriography revealed the absence of the PTA in both limbs. The vascularization of the fibula was bilaterally normal. The patient underwent also neurological examination and electromyography, which were normal. The evaluation of the possible clinical signs and symptoms and the hemodynamic consequences of this condition are further discussed.

  5. Spontaneous hematologic recovery from bone marrow aplasia after accidental tenfold overdosage with radiophosphorus

    Energy Technology Data Exchange (ETDEWEB)

    Gmuer, J.; Bischof, B.; Coninx, S.; Bucher, U.; Poretti, G.; Henrichs, K.; Kaul, A.; Roedler, H.D.; Buettner, K.; Frick, P.G.

    1983-04-01

    Two patients with polycythemia vera received intravenously an accidental tenfold overdosage of radiophosphorus therapy (60 and 50 mCi 32P, respectively). In both patients, the occurrence of hemorrhagic complications 3 wk after the 32P medication led to detection of the error and referral to our hospital. Upon admission they showed an agranulocytosis, severe thrombocytopenia, and bone marrow aplasia. In both cases, spontaneous recovery of the hematopoiesis was observed from day 40 posttreatment onward. In one patient, a slow but ultimately complete normalization of blood counts and marrow morphology took place, whereas in the other, a mild thrombocytopenia persists. Nearly 5 yr after the accidental overdosage, both patients are clinically well. Symptoms of polycythemia vera have not reappeared up to now. Attempts were made to evaluate the radiation dose absorbed by the bone marrow. In the first patient, the daily 32P excretion was determined from day 22 to day 60, whereas in the other patient a whole body count was performed on day 78 after administration. From these results, an approximate cumulative bone marrow dose of 10 Sv (1000 rem) could be calculated.

  6. Unilateral multifocal testicular biopsies in 320 patients with germ cell aplasia

    Directory of Open Access Journals (Sweden)

    D Jamali Zavareii. M

    2007-05-01

    Full Text Available Background: Germ cell aplasia (G.C.A is one of the most important testicular causes of infertility and azospermia.In this condition the seminiferous tubules are only lined by a single layer of sertoli cell. In some cases, there is focal area with spermatogenic activity. Methods: We studied infertile men with G.C.A referred to Jahade Daneshgahi of Iran during 1381-82, retrospectively. All the cases had more than one biopsy of one testis. Results: In 11.6٪ of 320 cases, comparison of multiple biopsy sites of a testis revealed: when one site showed G.C.A, another site revealed areas with spermatogenic activity. Considering the cases who showed germ cells in both sites, 15.3٪ of cases multiple biopsy sites appeared to have focal spermatogenesis, better maturation of germ cells or higher scoring area for urologic operation. Conclusion: According to new techniques in treatment of infertility with ICSI (intra cytoplasmic sperm injection in which fertility is possible with one spermatozoa or even spermatid (after recovery, biopsy of multiple sites instead of only one site is highly recommended in azospermic patient.

  7. Interface interaction and wetting of Sc2O3 exposed to Cu-Al and Cu-Ti melts

    International Nuclear Information System (INIS)

    Scandia is a thermodynamically stable oxide and could be used as a structural material for a crucible in order to avoid a melt contamination. In the present study wetting experiments of Cu-Al and Cu-Ti melts on Scandia substrate were preformed at 1423 K by a sessile drop method. It was established that Al and Ti additions lead to the improved wetting and that the final contact angle decreases with increasing the additives concentration. For Al containing melts, the contact angle changes gradually with time, and a relatively thick interaction layer, which consists of Al2O3, Sc2O3, and metallic channels, was formed at the Sc2O3/Cu-Al interface. For Ti containing melts, the final contact angle is achieved already during heating, and an extremely thin layer based on a Ti-Sc-O compound was detected by AES at the Sc2O3/Cu-Ti interface. The results of a thermodynamic analysis, which takes into account the formation free energy of the oxides, involved in the systems, and the thermodynamic properties of the liquid solutions are in a good agreement with the experimental observations. (orig.)

  8. [Genodermatosis in man and animal. Comparative overview].

    Science.gov (United States)

    Küster, W; Happle, R

    1983-11-01

    Fourteen monogenic cutaneous disorders of man are compared to similar gene defects in animals. The traits are classified into two groups. In the first group, an identity (homology) of the underlying gene defects is likely. This group includes oculo-cutaneous albinism, Chédiak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica. In the second group, the traits are similar but the question of their homology cannot be settled. It includes alopecia congenita, hidrotic ectodermal dysplasia of the Clouston type, and hereditary lymphedema. The existence of identical mutations in man and animals provides evidence for the close relationship between the various mammalian species. Homologous traits affecting the skin are of practical importance since the use of these animal models may help to answer those questions which cannot be answered by performing research in human patients. PMID:6358130

  9. Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.

    Science.gov (United States)

    Pereboeva, Larisa; Hubbard, Meredith; Goldman, Frederick D; Westin, Erik R

    2016-01-01

    Dyskeratosis Congenita (DC) is an inherited multisystem premature aging disorder with characteristic skin and mucosal findings as well as a predisposition to cancer and bone marrow failure. DC arises due to gene mutations associated with the telomerase complex or telomere maintenance, resulting in critically shortened telomeres. The pathogenesis of DC, as well as several congenital bone marrow failure (BMF) syndromes, converges on the DNA damage response (DDR) pathway and subsequent elevation of reactive oxygen species (ROS). Historically, DC patients have had poor outcomes following bone marrow transplantation (BMT), perhaps as a consequence of an underlying DNA hypersensitivity to cytotoxic agents. Previously, we demonstrated an activated DDR and increased ROS, augmented by chemotherapy and radiation, in somatic cells isolated from DC patients with a mutation in the RNA component of telomerase, TERC. The current study was undertaken to determine whether previous findings related to ROS and DDR in TERC patients' cells could be extended to other DC mutations. Of particular interest was whether an antioxidant approach could counter increased ROS and decrease DC pathologies. To test this, we examined lymphocytes from DC patients from different DC mutations (TERT, TINF2, and TERC) for the presence of an active DDR and increased ROS. All DC mutations led to increased steady-state p53 (2-fold to 10-fold) and ROS (1.5-fold to 2-fold). Upon exposure to ionizing radiation (XRT), DC cells increased in both DDR and ROS to a significant degree. Exposing DC cells to hydrogen peroxide also revealed that DC cells maintain a significant oxidant burden compared to controls (1.5-fold to 3-fold). DC cell culture supplemented with N-acetylcysteine, or alternatively grown in low oxygen, afforded significant proliferative benefits (proliferation: maximum 2-fold increase; NAC: 5-fold p53 decrease; low oxygen: maximum 3.5-fold p53 decrease). Together, our data supports a mechanism

  10. Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.

    Directory of Open Access Journals (Sweden)

    Larisa Pereboeva

    Full Text Available Dyskeratosis Congenita (DC is an inherited multisystem premature aging disorder with characteristic skin and mucosal findings as well as a predisposition to cancer and bone marrow failure. DC arises due to gene mutations associated with the telomerase complex or telomere maintenance, resulting in critically shortened telomeres. The pathogenesis of DC, as well as several congenital bone marrow failure (BMF syndromes, converges on the DNA damage response (DDR pathway and subsequent elevation of reactive oxygen species (ROS. Historically, DC patients have had poor outcomes following bone marrow transplantation (BMT, perhaps as a consequence of an underlying DNA hypersensitivity to cytotoxic agents. Previously, we demonstrated an activated DDR and increased ROS, augmented by chemotherapy and radiation, in somatic cells isolated from DC patients with a mutation in the RNA component of telomerase, TERC. The current study was undertaken to determine whether previous findings related to ROS and DDR in TERC patients' cells could be extended to other DC mutations. Of particular interest was whether an antioxidant approach could counter increased ROS and decrease DC pathologies. To test this, we examined lymphocytes from DC patients from different DC mutations (TERT, TINF2, and TERC for the presence of an active DDR and increased ROS. All DC mutations led to increased steady-state p53 (2-fold to 10-fold and ROS (1.5-fold to 2-fold. Upon exposure to ionizing radiation (XRT, DC cells increased in both DDR and ROS to a significant degree. Exposing DC cells to hydrogen peroxide also revealed that DC cells maintain a significant oxidant burden compared to controls (1.5-fold to 3-fold. DC cell culture supplemented with N-acetylcysteine, or alternatively grown in low oxygen, afforded significant proliferative benefits (proliferation: maximum 2-fold increase; NAC: 5-fold p53 decrease; low oxygen: maximum 3.5-fold p53 decrease. Together, our data supports a

  11. Epoetin-associated pure red cell aplasia: past, present, and future considerations

    Science.gov (United States)

    McKoy, June M.; Stonecash, Robin E.; Cournoyer, Denis; Rossert, Jerome; Nissenson, Allen R.; Raisch, Dennis W.; Casadevall, Nicole; Bennett, Charles L.

    2009-01-01

    BACKGROUND Since 1988, millions of patients have received epoetin products intravenously (IV) and subcutaneously. In 1998, epoetin-associated pure red cell aplasia (PRCA) was first reported and causation was attributed to formulations without human serum albumin (HSA), subcutaneous administration, and uncoated rubber stoppers. STUDY DESIGN AND METHODS Data on erythropoietin (EPO)-associated PRCA were obtained from the Food and Drug Administration (FDA), regulatory authorities in other countries, and the manufacturers of epoetin alfa, epoetin beta, and darbepoetin. The data included information on numbers of PRCA cases and estimated exposure-adjusted incidence rates by EPO product, anemia etiology, administration route, country of PRCA identification, and date reported. RESULTS In 1999, academicians in Paris identified 12 EPO-treated patients with antibody-mediated PRCA; 11 of these patients were on hemodialysis and had received subcutaneous Eprex (Johnson & Johnson). In 2002, authorities in Europe, Australia, Singapore, and Canada mandated Eprex by IV route to hemodialysis patients, and the relevant manufacturers added Teflon coating to prefilled syringes of Eprex; PRCA cases subsequently decreased by 90 percent. By 2003, 180 Eprex-associated PRCA cases were identified in Europe, Canada, Australia, and Asia, despite improvements in handling. Since 2002, FDA safety databases include information on 59 new cases of antibody-associated PRCA, primarily associated with subcutaneous epoetin alfa and darbepoetin that does not contain HSA. CONCLUSION Independent actions by regulatory authorities, manufacturers, and academic researchers identified significant numbers of PRCA cases between 1998 and 2003 and characterized the probable etiology. Today, antibody-mediated PRCA is an infrequent class toxicity occurring among some hemodialysis patients on EPOs. PMID:18482185

  12. Dapsone-induced pure red cell aplasia and cholestatic jaundice: A new experience for diagnosis and management.

    Science.gov (United States)

    Sawlani, Kamal Kumar; Chaudhary, Shyam Chand; Singh, Jitendra; Raja, Deep Chandh; Mishra, Sanjay; Goel, Madhu Mati

    2016-01-01

    Dapsone (4,4'- diaminodiphenylsulfone) is the parent compound of the sulfones, and it has potent antiparasitic, anti-inflammatory, and immunomodulatory effects. It is used in the treatment of leprosy, dermatitis herpetiformis, and prophylactically to prevent Pneumocystis pneumonia and toxoplasmosis in patients unable to tolerate trimethoprim with sulfamethoxazole. We hereby report a case of dapsone toxicity who developed pure red cell aplasia and cholestatic jaundice in a suspected case of dermatitis herpetiformis. Patient had an excellent response to corticosteroids after withdrawal of dapsone. PMID:27512715

  13. Hematopoiesis stimulation test by interleukin 1α gene transfer in the Cynomolgus macaque: application to secondary medullary aplasia from an accidental irradiation

    International Nuclear Information System (INIS)

    After a description of the context of medullary aplasia (haematological radiobiology, radiation acute syndrome, therapeutic care), and an overview of knowledge about the interleukin-1 and medullary stroma cells, this research thesis aims at investigating therapeutic alternatives for radio-accidental aplasia. More precisely, it aims at defining means to get cytokines which are efficient for haematopoiesis. Interleukin-1 is chosen for its properties and tests are performed on a macaque with two approaches for gene transfer: an ex vivo transfer by retroviral vector enabling an integration in the target cell genome, and an in situ transfer by adeno-viral vector directly applied in the animal osseous medulla

  14. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

    OpenAIRE

    Hirata, H.; Nanda, I; van Riesen, A.; McMichael, G.; Hu, H.; Hambrock, M.; Papon, M.; Fischer, U.; Marouillat, S.; Ding, C; Alirol, S.; Bienek, M.; Preisler-Adams, S.; Grimme, A.; Seelow, D.

    2013-01-01

    Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families. We thus aimed to establish the genetic basis of an AMC subtype that is associated with multiple dysmorphic features and intellectual disability (ID). We used haplotype analysis, next-generation ...

  15. Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes ☆

    OpenAIRE

    Desaphy, Jean-François; Gramegna, Gianluca; Altamura, Concetta; Dinardo, Maria Maddalena; Imbrici, Paola; George, Alfred L.; Modoni, Anna; LoMonaco, Mauro; Conte Camerino, Diana

    2013-01-01

    Myotonia congenita (MC) is caused by loss-of-function mutations of the muscle ClC-1 chloride channel. Clinical manifestations include the variable association of myotonia and transitory weakness. We recently described a cohort of recessive MC patients showing, at a low rate repetitive nerves stimulation protocol, different values of compound muscle action potential (CMAP) transitory depression, which is considered the neurophysiologic counterpart of transitory weakness. From among this cohort...

  16. THE MEDIUM RANGE STRUCTURE OF HYDROGENATED Cu-Ti AMORPHOUS ALLOYS STUDIED BY ANOMALOUS SMALL-ANGLE SCATTERING OF X-RAYS AND NEUTRON DIFFRACTION

    OpenAIRE

    Goudeau, P.; Naudon, A.; Rodmacq, B.; Mangin, P; Chamberod, A.

    1985-01-01

    Amorphous Cu-Ti alloys, when hydrogenated, reveal a strong small-angle scattered intensity. The anomalous X-ray scattering effect is used to analyse this SAS intensity on both copper and titanium edges. It allows to assert the presence of very small clusters of titanium hydride having the TiH2 composition. These results are in good agreement with those obtained by neutron scattering experiments when using either hydrogen (b 0) for the hydrogenation of the samples.

  17. Treatment with misonidazole and high voltage irradiation of xenotransplanted human carcinomas in nu/nu mice with thymic aplasia

    International Nuclear Information System (INIS)

    An investigation was conducted in order to determine the effect of combined high voltage irradiation and the sensitizing drug misonidazole (Ro-07-0582) on human gynecologic carcinoma transplanted into nu/nu mice with thymic aplasia. Two carcinomas of the endometrium, two carcinomas of the ovaries, and one carcinoma of the cervix were submitted to Co-60 irradiation with and without misonidazole. The tumor growth was compared to that of control groups. The dosage and fraction of the high voltage irradiation (2 x 5 Gy/week, total dose 60 Gy) were adapted to clinical data. Misonidazole (1 mg/kg body weight) was administered by intraperitoneal injection 15 minutes before the irradiation. Compared with the control animals, the locally irradiated tumors showed a slower growth or even a regression. The administration of misonidazole, however, did not produce significant differences in our five cases. Some reasons for this absence of the radiosensitizing effect of misonidazole are briefly discussed. (orig.)

  18. Aplasia medular após transplante hepático em pediatria Aplastic anemia after pediatric liver transplantation

    Directory of Open Access Journals (Sweden)

    Marlene P. Garanito

    2009-01-01

    Full Text Available A aplasia de medula é uma das mais raras (Aplastic anemia (AA is one of the rarest (<1% and most serious complications of liver transplantation for fulminant non-A, non-B and non-C hepatitis. It was first described in 1987 by Stock; the mechanism involved is an immunologically mediated condition secondary to an unknown viral infection. The disease is associated with a dismal prognosis. Spontaneous recovery from acquired AA is very rare however some patients (50-70% recover after immunosuppressive therapy, such as Cyclosporin A (CsA and Antithymocyte globulin (ATG, even after liver transplantation. Another treatment option is bone marrow transplantation. We report on a child who developed AA following liver transplantation for fulminant viral hepatitis that was treated with intensive immunosuppression including CsA and ATG and achieved complete recovery.

  19. Therapeutic potential of ex vivo expansion of haematopoietic precursors for the treatment of accidental irradiation-induced aplasia

    International Nuclear Information System (INIS)

    After whole body overexposure, the key issue is the therapeutic decision, i.e. the choice between bone marrow transplantation and other strategies. The indications of bone marrow transplantation cover only a short range of doses, provided the exposure is distributed uniformly within the body; a rare event in accidental settings. The results of the clinical trials for Granulocyte-Colony Stimulating Factor: G-CSF, Granulocyte/Macrophage Colony Stimulating Factor: GM-CSF or Interleukin 3: IL-3, in vivo and in vitro radiobiology experiments suggest that growth factor therapy could be of use after most accidental overexposures to evidence and to stimulate the remaining haematopoietic stem cells in order to shorten the duration of aplasia, although questions have been raised about growth factor infusion real clinical efficiency. Ex vivo expansion of haematopoietic precursor, stem cells and differentiated cells is a new approach of growth factor therapy, which may be of interest for the treatment of patients with accidental radiation-induced aplasia. These studies aim to expand the pool of progenitors and stem cells for transplantation or to expand differentiated cells (mainly granulocytes but also megakaryocytes) for transfusion. This is made possible due to the development of techniques allowing the selection of a population of haematopoietic progenitors and stem cells from the blood (with stimulation by growth factors prior stem cell harvesting) or bone marrow using immature cell positive selection. The next step consisting in their culture with combination of growth factors or additional stroma cells is also under development. Autologous progenitor cells generated ex vivo has been recently used with some success for reconstitution of haematopoiesis after high-dose chemotherapy. (author)

  20. Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.

    Science.gov (United States)

    Barbaro, Pasquale; Vedi, Aditi

    2016-07-01

    Dyskeratosis congenita (DC) is a multisystem disorder, with a disruption in telomere biology leading to very short telomeres underpinning its pathophysiology. Bone marrow failure is a key feature in DC and is the leading cause of mortality. Hematopoietic stem cell transplantation (HSCT) is the only curative option for bone marrow failure in DC; however, small case reports and series have suggested a poor outcome after HSCT. We undertook a systematic review of all reported patients with DC who underwent HSCT to better characterize outcome and to identify factors associated with improved survival. The outcome of 109 patients found in the literature was poor, with 5- and 10-year survival estimates of only 57% and 23%, respectively. Patients transplanted after 2000 had improved early survival, with 5-year survival estimates of 70%; however, longer term survival was similar (28%). Pulmonary disease, infection, and graft failure were the leading causes of death. Prognosis after development of pulmonary disease post-HSCT was poor, with only 4 of 15 patients surviving at last follow-up. Multivariate analysis identified age >20 years at HSCT, HSCT before 2000, and alternate donor source to be poor prognostic markers. Reduced-intensity conditioning was not significantly found to be associated with improved survival. This review shows the poor outcome after HSCT in patients with DC and highlights the need for future collaborative clinical trials and extended follow-up of this rare patient population to define whether changes in therapy will lead to improved survival. PMID:26968789

  1. CD19 CAR-targeted T cells induce long-term remission and B Cell Aplasia in an immunocompetent mouse model of B cell acute lymphoblastic leukemia.

    Directory of Open Access Journals (Sweden)

    Marco L Davila

    Full Text Available Although many adults with B cell acute lymphoblastic leukemia (B-ALL are induced into remission, most will relapse, underscoring the dire need for novel therapies for this disease. We developed murine CD19-specific chimeric antigen receptors (CARs and an immunocompetent mouse model of B-ALL that recapitulates the disease at genetic, cellular, and pathologic levels. Mouse T cells transduced with an all-murine CD3ζ/CD28-based CAR that is equivalent to the one being used in our clinical trials, eradicate B-ALL in mice and mediate long-term B cell aplasias. In this model, we find that increasing conditioning chemotherapy increases tumor eradication, B cell aplasia, and CAR-modified T cell persistence. Quantification of recipient B lineage cells allowed us to estimate an in vivo effector to endogenous target ratio for B cell aplasia maintenance. In mice exhibiting a dramatic B cell reduction we identified a small population of progenitor B cells in the bone marrow that may serve as a reservoir for long-term CAR-modified T cell stimulation. Lastly, we determine that infusion of CD8+ CAR-modified T cells alone is sufficient to maintain long-term B cell eradication. The mouse model we report here should prove valuable for investigating CAR-based and other therapies for adult B-ALL.

  2. Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report

    Directory of Open Access Journals (Sweden)

    Durković Jasmina

    2014-01-01

    Full Text Available Introduction. X-linked adrenal hypoplasia congenita (AHC is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3 levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fact that E3 originates from dehydroepiandrosterone (DHEA synthesized in the fetal adrenals. In case of adrenal insufficiency, the impaired production of fetal DHEA leads to a subsequent reduction of E3 concentrations in maternal serum. There are only a few reports of AHC suspected prenatally due to low maternal E3 levels. Case Outline. We describe two brothers with adrenal insufficiency due to AHC. The older brother was admitted to the hospital at the age of 33 days due to failure to thrive, vomiting, and dehydration. Genetic analysis revealed a hemizygous mutation in DAX-1 gene, thus confirming the diagnosis of ACH. The same mutation was detected in his mother. In the second pregnancy, E3 concentrations were determined from maternal serum. Estriol levels during the second trimester were extremely low suggesting the diagnosis of AHC. The diagnosis was confirmed during the neonatal period by genetic testing, and replacement therapy was started at the age of 10 days. This boy never experienced an adverse episode such as hypoglycemia or adrenal crises. Conclusion. Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

  3. Clinical importance of digitized chest X-ray for detection of pulmonary infiltrations in bone marrow transplant patients during aplasia

    International Nuclear Information System (INIS)

    Purpose: Evaluation of digitized chest X-ray for the detection of pulmonary infiltrations in bone marrow transplant patients during aplasia. Methods: Digitized chest X-rays of 40 patients (21 female, 19 male) with 'Fever of unknown origin' (FUO) were evaluated concerning radiological signs of pulmonary infiltrations and correlated to clinical findings, blood chemistry, microbiology and bronchoscopy. Additionally, an individual risk profile was established. Results: In 11/40 patients pulmonary infiltrations were detected in digitized chest X-rays (group 1). 10/11 developed an infectious pulmonary infiltration. 29/40 patients developed no pulmonary infiltration (group 2). When fever increased for the first time (initial chest X-ray) a sensitivity, specificity, positive and negative predictive value of 46%, 86%, 56%, 81% and for the chest X-rays in process of 61%, 79%, 68% and 73% was found. C-reactive protein and temperature increase occured statistically significantly earlier (p<0.05) in group 1 compared to group 2. The average latency of digital chest X-rays in comparison to c-reactive protein and temperature increase was 6 days. The incidence of risk factors was significantly higher in group 1 in comparison to group 2 (p<0.05). Conclusion: Digitized chest X-rays are not a reliable method for primary detection of pulmonary infiltrations after bone marrow transplantation. Individual risk factors have to be taken into consideration to indicate further diagnostic methods such as computed tomography at an earlier time. (orig.)

  4. [Changes in bones of the foot and development of inserting tendons of the lower leg musculature in tibial aplasia].

    Science.gov (United States)

    Selke, B; Bogusch, G

    1989-01-01

    Skeleton, muscles and tendons were investigated in 3 lower legs with aplasia of the tibia. The tibiofibular joint appears to be rather a syndesmosis than a diarthrosis. In all 3 cases, talus and calcaneus are connected by a synostosis. Also in the other parts of the skeleton of the feet, synarthroses with different extensions are found. The muscles, normally originating from the tibia, have shifted their origin to the fibula. The proximal part of the inserting tendons under the retinacula is quite normal. Also, their distal part in the region of the metatarsalia and of the digits exhibits no alterations. In the region of the tarsus in which already alterations in bone formation are found, the tendons of the flexor muscles of the toes exhibit some variations. Often the muscles show a new, strong insertion into the bones of the tarsus. The normal connection between the proximal and distal parts of the tendons is sometimes still indicated by a thin bundle of collagenous fibers. In all 3 cases, the tibialis anterior muscle inserts into the distal part of the tendons of the flexor muscles of the toes, indicating that there are also connections between tendons of muscles from different blastemas. PMID:2816255

  5. Cyclosporine restores hematopoietic function by compensating for decreased Tregs in patients with pure red cell aplasia and acquired aplastic anemia.

    Science.gov (United States)

    Dao, An T T; Yamazaki, Hirohito; Takamatsu, Hiroyuki; Sugimori, Chiharu; Katagiri, Takamasa; Maruyama, Hiroyuki; Zaimoku, Yoshitaka; Maruyama, Kana; Ly, Trung Q; Espinoza, Luis; Nakao, Shinji

    2016-04-01

    Most patients with acquired pure red cell aplasia (PRCA) and some with acquired aplastic anemia (AA) respond well to cyclosporine (CsA), but thereafter often show CsA dependency. The mechanism underlying this dependency remains unknown. We established a reliable method for measuring the regulatory T cell (Treg) count using FoxP3 and Helios expression as markers and determined the balance between Tregs and other helper T cell subsets in 16 PRCA and 29 AA patients. The ratios of interferon-γ-producing CD4(+) (Th1) T cells to Tregs in untreated patients and CsA-dependent patients were significantly higher (PRCA 5.77 ± 1.47 and 7.38 ± 2.58; AA 6.18 ± 2.35 and 8.94 ± 4.06) than in healthy volunteers (HVs; 3.33 ± 0.90) due to the profound decrease in the percentage of Tregs. In contrast, the ratios were comparable to HVs in convalescent CsA-treated AA patients (4.74 ± 2.10) and AA patients in remission after the cessation of CsA treatment (4.24 ± 1.67). Low-dose CsA (100 ng/ml) inhibited the proliferation of conventional T cells (Tconv) to a similar degree to the inhibition by Tregs in a co-culture with a 1:1 Treg/Tconv ratio. The data suggest that CsA may reverse the hematopoietic suppression in PRCA and AA patients by compensating for the inadequate immune regulatory function that occurs due to a profound decrease in the Treg count. PMID:26968551

  6. Improvement in Erythropoieis-stimulating Agent-induced Pure Red-cell Aplasia by Introduction of Darbepoetin-α When the Anti-erythropoietin Antibody Titer Declines Spontaneously

    OpenAIRE

    Lee, Hajeong; Yang, Jaeseok; Kim, Hyosang; Kwon, Ju Won; Oh, Kook-Hwan; Joo, Kwon Wook; Kim, Yon Su; Ahn, Curie; Han, Jin Suk; Kim, Suhnggwon

    2010-01-01

    Anti-erythropoietin antibodies usually cross-react with all kinds of recombinant erythropoietins; therefore, erythropoiesis-stimulating agent (ESA)-induced pure red-cell aplasia (PRCA) is not rescued by different ESAs. Here, we present a case of ESA-induced PRCA in a 36-yr-old woman with chronic kidney disease, whose anemic condition improved following reintroduction of darbepoetin-α. The patient developed progressive, severe anemia after the use of erythropoietin-α. As the anemia did not imp...

  7. Coombs-negative Autoimmune Hemolytic Anemia Followed by Anti-erythropoetin Receptor Antibody-associated Pure Red Cell Aplasia: A Case Report and Review of Literature.

    Science.gov (United States)

    Yoshimi, Mayumi; Kadowaki, Yutaka; Kikuchi, Yuji; Takahashi, Tsuyoshi

    2016-01-01

    A 76-year-old woman was referred to our hospital because of anemia. The laboratory findings revealed hemolysis. Although a direct Coombs test was negative, a high titer of RBC-bound IgG was detected, and a diagnosis of Coombs-negative autoimmune hemolytic anemia was made. She was successfully treated with prednisolone. One year and five months later, she again presented anemia and was diagnosed with pure red cell aplasia. Anti-erythropoietin receptor antibody was detected in the serum. She was treated with cyclosporine and obtained prompt recovery. We herein report this rare case and review the pertinent literature. PMID:26935373

  8. Diagnóstico pré-natal da artrogripose múltipla congênita: relato de caso Prenatal diagnosis of arthrogryposis multiplex congenita: a case report

    Directory of Open Access Journals (Sweden)

    Carlos Augusto Alencar Júnior

    1998-09-01

    Full Text Available A artrogripose múltipla congênita é caracterizada pela presença, ao nascimento, de múltiplas contraturas articulares. O diagnóstico pré-natal é difícil, existindo poucos relatos na literatura. Baseia-se, especialmente, na combinação de acinesia fetal, posição anormal dos membros, retardo de crescimento intra-uterino e polidrâmnio. Descrevemos um caso de artrogripose múltipla congênita diagnosticado pela ultra-sonografia no terceiro trimestre gestacional. Os principais achados foram a ausência de movimentação fetal, polidrâmnio e concepto com retardo de crescimento intra-uterino, tipo misto, com acentuada diminuição da circunferência abdominal e torácica, implantação baixa dos pavilhões auriculares, micrognatia, flexão contínua dos membros inferiores e superiores, rotação interna dos fêmures e pé torto à direita.Arthrogryposis multiplex congenita is characterized by multiple joint contractures present at birth. Prenatal diagnosis is difficult. There are few reports in the literature. Fetal akinesia, abnormal limb position, intrauterine growth retardation, and polyhydramnios are the main findings of the ultrasonographic diagnosis. The authors describe a case of arthrogryposis multiplex congenita ultrasonographically diagnosed in the third gestational trimester. The main findings were absence of fetal movements, polyhydramnios, symmetrical and non-symmetrical fetal growth retardation with marked decrease of abdominal and thoracic circumference, low-set ears, micrognathia, continuous flexure contracture of limbs, internal rotation of the femur, and clubfoot on the right.

  9. ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

    Directory of Open Access Journals (Sweden)

    D. Bahena-Bahena

    2014-01-01

    Full Text Available Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Congenital Disorder of Glycosylation (ATP6V0A2-CDG. We studied two Mexican Mestizo patients with a clinical phenotype corresponding to an ARCL-IIA syndrome. Both patients presented abnormal transferrin (N-linked glycosylation but Patient 1 had a normal ApoCIII (O-linked glycosylation profile. Mutational screening of ATP6V0A2 using cDNA and genomic DNA revealed in Patient 1 a previously reported homozygous nonsense mutation c.187C>T (p.R63X associated with a novel clinical finding of a VSD. In Patient 2 we found a homozygous c.2293C>T (p.Q765X mutation that had been previously reported but found that it also altered RNA processing generating a novel transcript not previously identified (r.2176_2293del; p.F726Sfs*10. This is the first report to describe Mestizo patients with molecular diagnosis of ARCL-IIA/ATP6V0A2-CDG and to establish that their mutations are the first to be found in patients from different regions of the world and with different genetic backgrounds.

  10. Linking Drugs to Obscure Illnesses: Lessons from Pure Red Cell Aplasia, Nephrogenic Systemic Fibrosis, and Reye’s Syndrome. A Report From the Southern Network on Adverse Reactions (SONAR)

    OpenAIRE

    Bennett, Charles L.; Starko, Karen M.; Thomsen, Henrik S; Cowper, Shawn; Sartor, Oliver; Macdougall, Iain C.; Qureshi, Zaina P; Bookstaver, P. Brandon; Miller, April D; Norris, LeAnn B.; Xirasagar, Sudha; Trenery, Alyssa; Lopez, Isaac; Kahn, Adam; Murday, Alanna

    2012-01-01

    Identification of serious adverse drug reactions (sADRS) associated with commonly used drugs can elude detection for years. Reye’s syndrome (RS), nephrogenic systemic fibrosis (NSF), and pure red cell aplasia (PRCA) among chronic kidney disease (CKD) patients were recognized in 1951, 2000, and 1998, respectively. Reports associating these syndromes with aspirin, gadodiamide, and epoetin, were published 29, 6, and 4 years later, respectively. We obtained primary information from clinicians who...

  11. Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia

    Directory of Open Access Journals (Sweden)

    Muhammad SAEED*

    2014-12-01

    Full Text Available How to Cite This Article: Saeed M, Haq A, Qadir Kh.Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. Iran J Child Neurol. 2014 Autumn;8(4: 76-79.AbstractObjectiveBart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet.We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart’s syndrome associated with corpus callosum agenesis.ReferencesBart BJ, Garlin RJ, Anderson VE, Lynch FW. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol 1966; 93: 296-304.Bart BJ. Epidermolysis bullosa and congenital localized absence of skin. Arch Dermatol 1970; 101: 78-81.Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Derm Venereol 1979; 59: 533-537.Wojnarowska FT, Eady RA, Wells RS. Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases. Br J Dermatol 1983; 108: 477-483.Kanzler MH, Smoller B, Woodley DT. Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. Arch Dermatol 1992; 128:1087-90.Maman E, Maor E, Kachko L, Carmi R. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. Am J Med Genet 1998; 78: 127-133.McCarthy MA, Clarke T, Powell FC. Epidermolysis bullosa and aplasia cutis. Int J Derm 1991; 30: 481-484.Puvabanditsin S, Garrow E, Daeun K

  12. Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

    Science.gov (United States)

    Galeotti, Caroline; Lahlou, Zineb; Goullon, Domitille; Sarda-Thibault, Hélène; Cahen-Varsaux, Juliette; Bignon-Topalovic, Joëlle; Bashamboo, Anu; McElreavey, Ken; Brauner, Raja

    2012-01-01

    Background Boys carrying mutations in the NR0B1 gene develop adrenal hypoplasia congenita (AHC) and impaired sexual development due to the combination of hypogonadotropic hypogonadism (HH) and primary defects in spermatogenesis. Methods We analysed the evolution of hypothalamic-pituitary-testicular function of 8 boys with AHC due to NR0B1 mutations. Our objective was to characterize and monitor the progressive deterioration of this function. Results The first symptoms appeared in the neonatal period (n = 5) or between 6 months and 8.7 years (n = 3). Basal plasma adrenocorticotrophic hormone (ACTH) concentrations increased in all boys, whilst cortisol levels decreased in one case. The natremia was equal or below 134 mmol/L and kaliemia was over 5 mmol/L. All had increased plasma renin. In 3 of 4 patients diagnosed in the neonatal period and evaluated during the first year, the basal plasma gonadotropins concentrations, and their response to gonadotropin releasing hormone (GnRH) test (n = 2), and those of testosterone were normal. The plasma inhibin B levels were normal in the first year of life. With the exception of two cases these concentrations decreased to below the normal for age. Anti-Müllerian hormone concentrations were normal for age in all except one case, which had low concentrations before the initiation of testosterone treatment. In 3 of the 8 cases the gene was deleted and the remaining 5 cases carried frameshift mutations that are predicted to introduce a downstream nonsense mutation resulting in a truncated protein. Conclusions The decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations. These non-invasive examinations can help to estimate the age of the testicular degradation and cryopreservation of semen may be considered in these cases as investigational procedure with the aim of restoring fertility. PMID:22761912

  13. X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.

    Science.gov (United States)

    Yu, Tingting; Wang, Jian; Yu, Yongguo; Huang, Xiaodong; Fu, Qihua; Shen, Yiping; Chen, Fuxiang

    2016-05-01

    DAX1 is an orphan nuclear receptor that has a key role in the development and function of the adrenal and reproductive axes. Mutations in NR0B1, the gene encoding DAX1, result in X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). A Chinese pedigree with X-linked AHC and HHG was investigated in the present study. Sequence analysis identified a novel small indel variant, c.195_207delinsTG, in the NR0B1 gene. To determine the effect of this variant on DAX1 expression, reverse‑transcription quantitative PCR and western blot assays were performed. The mRNA expression levels in carriers of mutant NR0B1 were significantly reduced (62% decrease) compared to those in individuals with wild-type NR0B1 (WT). The c.195_207delinsTG mutation was demonstrated to lead to various truncated DAX1 proteins, including the C‑terminal truncated DAX1, which was only detected in the cytoplasm, and the N‑terminal truncated DAX1, which was present in the cytoplasm and nucleus. A luciferase assay was then performed to assess the repressor function of DAX1 in modulating steroidogenic factor 1 (SF‑1)‑mediated transactivation. WT DAX1 significantly suppressed the SF‑1‑mediated promoter activity of the steroidogenic acute regulatory protein by 35.5±1.9%. In contrast to other known pathogenic mutations which abolish the repressor function of DAX1, the c.195_207delinsTG mutant proxkduced a higher repressor activity, demonstrating a 49.9±2.6% reduction of promoter activity. These findings suggested that the mutation of NR0B1 in X‑linked AHC with HHG enhanced the function of DAX1 to repress SF-1 activation, while DAX1 is expected to have additional roles in the pathological mechanism. PMID:27035099

  14. Disceratose congênita: relato de caso e revisão da literatura Dyskeratosis congenita: case report and literature review

    Directory of Open Access Journals (Sweden)

    Sílvia Pimenta de Carvalho

    2003-10-01

    Full Text Available A disceratose congênita é doença hereditária rara, caracterizada pela tríade de pigmentação reticulada da pele, distrofia ungueal e leucoceratose em mucosas. Alterações dentárias, gastrintestinais, geniturinárias, neurológicas, oftalmológicas, pulmonares e esqueléticas associadas têm sido relatadas. A falência medular é a principal causa de morte precoce e também é descrita predisposição para doenças malignas. Afeta principalmente homens, e reconhecem-se formas recessivas ligadas ao X, autossômicas dominantes e recessivas. Relata-se o caso de uma criança do sexo masculino, que apresentava a tríade clássica das lesões sem antecedentes familiares. Faz-se revisão da literatura com o objetivo de enfatizar a necessidade do acompanhamento médico multidisciplinar, de modo a permitir diagnóstico precoce das possíveis complicações.Dyskeratosis congenita is an inherited disease characterised by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Non-cutaneous abnormalities (dental, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal have also been reported. Bone marrow failure is the main cause of early mortality, with an additional predisposition to malignancy. Men are more affected than women and X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognised. We report a case of a male child who presented the classic triad of lesions, without familial cases. A review of the literature is also made, emphasizing the importance of a multidisciplinary approach, which is fundamental for an early diagnosis of the complications.

  15. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

    Science.gov (United States)

    Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane; Bienek, Melanie; Preisler-Adams, Sabine; Grimme, Astrid; Seelow, Dominik; Webster, Richard; Haan, Eric; MacLennan, Alastair; Stenzel, Werner; Yap, Tzu Ying; Gardner, Alison; Nguyen, Lam Son; Shaw, Marie; Lebrun, Nicolas; Haas, Stefan A; Kress, Wolfram; Haaf, Thomas; Schellenberger, Elke; Chelly, Jamel; Viot, Géraldine; Shaffer, Lisa G; Rosenfeld, Jill A; Kramer, Nancy; Falk, Rena; El-Khechen, Dima; Escobar, Luis F; Hennekam, Raoul; Wieacker, Peter; Hübner, Christoph; Ropers, Hans-Hilger; Gecz, Jozef; Schuelke, Markus; Laumonnier, Frédéric; Kalscheuer, Vera M

    2013-05-01

    Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families. We thus aimed to establish the genetic basis of an AMC subtype that is associated with multiple dysmorphic features and intellectual disability (ID). We used haplotype analysis, next-generation sequencing, array comparative genomic hybridization, and chromosome breakpoint mapping to identify the pathogenic mutations in families and simplex cases. Suspected disease variants were verified by cosegregation analysis. We identified disease-causing mutations in the zinc-finger gene ZC4H2 in four families affected by X-linked AMC plus ID and one family affected by cerebral palsy. Several heterozygous females were also affected, but to a lesser degree. Furthermore, we found two ZC4H2 deletions and one rearrangement in two female and one male unrelated simplex cases, respectively. In mouse primary hippocampal neurons, transiently produced ZC4H2 localized to the postsynaptic compartment of excitatory synapses, and the altered protein influenced dendritic spine density. In zebrafish, antisense-morpholino-mediated zc4h2 knockdown caused abnormal swimming and impaired α-motoneuron development. All missense mutations identified herein failed to rescue the swimming defect of zebrafish morphants. We conclude that ZC4H2 point mutations, rearrangements, and small deletions cause a clinically variable broad-spectrum neurodevelopmental disorder of the central and peripheral nervous systems in both familial and simplex cases of both sexes. Our results highlight the importance of ZC4H2 for genetic testing of individuals presenting with ID plus muscle weakness and minor or major forms of AMC. PMID:23623388

  16. Pure red cell aplasia due to parvovirus B19 infection after liver transplantation: A case report and review of the literature

    Institute of Scientific and Technical Information of China (English)

    Ting-Bo Liang; Shu-Sen Zheng; Dong-Lin Li; Jun Yu; Xue-Li Bai; Liang Liang; Shi-Guo Xu; Wei-Lin Wang; Yan Shen; Min Zhang

    2007-01-01

    Pure red cell aplasia (PRCA) due to parvovirus B19(PVB19) infection after solid organ transplantation has been rarely reported and most of the cases were renal transplant recipients. Few have been described after liver transplantation. Moreover, little information on the management of this easily recurring disease is available at present. We describe the first case of a Chinese liver transplant recipient with PVB19-induced PRCA during immunosuppressive therapy. The patient suffered from progressive anemia with the lowest hemoglobin level of 21 g/L. Bone marrow biopsy showed selectively inhibited erythropoiesis with giant pronormoblasts. Detection of PVB19-DNA in serum with quantitative polymerase chain reaction (PCR) revealed a high level of viral load.After 2 courses of intravenous immunoglobulin (IVIG)therapy, bone marrow erythropoiesis recovered with his hemoglobin level increased to 123 g/L. He had a lowlevel PVB19 load for a 5-mo follow-up period without recurrence of PRCA, and finally the virus was cleared.Our case indicates that clearance of PVB19 by IVIG in transplant recipients might be delayed after recovery of anemia.

  17. Cu/Ti base multicomponent amorphous Cu{sub 47}Ti{sub 33}Zr{sub 11}Ni{sub 8}Si{sub 1} and nanocrystalline silver composites

    Energy Technology Data Exchange (ETDEWEB)

    Dutkiewicz, Jan; Litynska-Dobrzynska, Lidia; Rogal, Lukasz; Maziarz, Wojciech; Czeppe, Tomasz [Institute of Metallurgy and Materials Science of the Polish Academy of Sciences, ul. Reymonta 25, 30-059 Krakow (Poland)

    2010-05-15

    An easy glass-forming alloy based on Cu-Ti of composition Cu{sub 47}Ti{sub 33}Zr{sub 11}Ni{sub 8}Si{sub 1} was ball milled for 40 h to obtain amorphous powder. X-ray diffraction and differential scanning calorimetry (DSC) measurements confirmed the dominant presence of the amorphous phase after ball milling. However, transmission electron microscopy from powders allowed identification of Si particles and intermetallic phases a few nanometre in diameter, often of CuNi{sub 2}Ti or Cu-Ti structures. The powder was then hot pressed in vacuum at temperature of 460 C between the glass transition and the crystallization point to form bulk amorphous samples. Composites were prepared in the same way from mixed milled amorphous powders and nanocrystalline silver powder prepared by ball milling. Various ratios of amorphous to silver powder were applied with a maximum of 60% of nanocrystalline silver The microhardness of the amorphous phase component was near 1100 HV, much higher than the 90 HV of silver. Composites containing 20% of nanosilver have shown a much higher compression strength of 850 MPa, as compared to the 450 MPa of the composite containing 60% of silver, however, the latter has better ductility, near 5%, before fracture. (Abstract Copyright [2010], Wiley Periodicals, Inc.)

  18. Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.

    Science.gov (United States)

    Gu, Bai-Wei; Apicella, Marisa; Mills, Jason; Fan, Jian-Meng; Reeves, Dara A; French, Deborah; Podsakoff, Gregory M; Bessler, Monica; Mason, Philip J

    2015-01-01

    Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by the presence of short telomeres at presentation. Mutations in ten different genes, whose products are involved in the telomere maintenance pathway, have been shown to cause DC. The X-linked form is the most common form of the disease and is caused by mutations in the gene DKC1, encoding the protein dyskerin. Dyskerin is required for the assembly and stability of telomerase and is also involved in ribosomal RNA (rRNA) processing where it converts specific uridines to pseudouridine. DC is thought to result from failure to maintain tissues, like blood, that are renewed by stem cell activity, but research into pathogenic mechanisms has been hampered by the difficulty of obtaining stem cells from patients. We reasoned that induced pluripotent stem (iPS) cells from X-linked DC patients may provide information about the mechanisms involved. Here we describe the production of iPS cells from DC patients with DKC1 mutations Q31E, A353V and ΔL37. In addition we constructed "corrected" lines with a copy of the wild type dyskerin cDNA expressed from the AAVS1 safe harbor locus. We show that in iPS cells with DKC1 mutations telomere maintenance is compromised with short telomere lengths and decreased telomerase activity. The degree to which telomere lengths are affected by expression of telomerase during reprograming, or with ectopic expression of wild type dyskerin, is variable. The recurrent mutation A353V shows the most severe effect on telomere maintenance. A353V cells but not Q31E or ΔL37 cells, are refractory to correction by expression of wild type DKC1 cDNA. Because dyskerin is involved in both telomere maintenance and ribosome biogenesis it has been postulated that defective ribosome biogenesis and translation may contribute to the disease phenotype. Evidence from mouse and zebra fish models has supported the involvement of ribosome biogenesis but primary cells from human

  19. Hematopoiesis stimulation test by interleukin 1{alpha} gene transfer in the Cynomolgus macaque: application to secondary medullary aplasia from an accidental irradiation; Essais de stimulation de l'hematopoiese par le transfert de gene de l'interleukine-1{alpha} chez le macaque cynomolgus: application a l'aplasie medullaire secondaire a une irradiation accidentelle

    Energy Technology Data Exchange (ETDEWEB)

    De Revel, Th.

    2002-12-15

    After a description of the context of medullary aplasia (haematological radiobiology, radiation acute syndrome, therapeutic care), and an overview of knowledge about the interleukin-1 and medullary stroma cells, this research thesis aims at investigating therapeutic alternatives for radio-accidental aplasia. More precisely, it aims at defining means to get cytokines which are efficient for haematopoiesis. Interleukin-1 is chosen for its properties and tests are performed on a macaque with two approaches for gene transfer: an ex vivo transfer by retroviral vector enabling an integration in the target cell genome, and an in situ transfer by adeno-viral vector directly applied in the animal osseous medulla

  20. Pseudoxanthoma elasticum and calcinosis cutis

    OpenAIRE

    Pala, E E; Bayol, Ü.; Usturalı, Keskin E; Küçük, Ü.; Türe, G; Bıçakçı, C

    2013-01-01

    Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder with ectopic mineralization of connective tissues and characteristic clinical manifestations in the skin, eyes and cardiovascular system. A 46-year-old woman was admitted to dermatology clinic with whitish/yellow papules that coalesce into cobblestone patterned plaques at the lateral, posterior aspect of the neck 6 previously. Two of the lesions were excised by plastic surgery. Histologically fragmented calcified elastic fib...

  1. Genetics Home Reference: dyskeratosis congenita

    Science.gov (United States)

    ... from the cell's DNA repair process. Without the protection of shelterin, the repair mechanism would sense the ... beds, hair follicles, skin, lining of the mouth (oral mucosa), and bone marrow. Breakage and instability of ... gene is located on the X chromosome , which is one of the two sex chromosomes. In males (who have only one X ...

  2. A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.

    Science.gov (United States)

    Stockklausner, Clemens; Raffel, Simon; Klermund, Julia; Bandapalli, Obul Reddy; Beier, Fabian; Brümmendorf, Tim H; Bürger, Friederike; Sauer, Sven W; Hoffmann, Georg F; Lorenz, Holger; Tagliaferri, Laura; Nowak, Daniel; Hofmann, Wolf-Karsten; Buergermeister, Rebecca; Kerber, Carolin; Rausch, Tobias; Korbel, Jan O; Luke, Brian; Trumpp, Andreas; Kulozik, Andreas E

    2015-11-01

    The TERT gene encodes for the reverse transcriptase activity of the telomerase complex and mutations in TERT can lead to dysfunctional telomerase activity resulting in diseases such as dyskeratosis congenita (DKC). Here, we describe a novel TERT mutation at position T1129P leading to DKC with progressive bone marrow (BM) failure in homozygous members of a consanguineous family. BM hematopoietic stem cells (HSCs) of an affected family member were 300-fold reduced associated with a significantly impaired colony forming capacity in vitro and impaired repopulation activity in mouse xenografts. Recent data in yeast suggested improved cellular checkpoint controls by mTOR inhibition preventing cells with short telomeres or DNA damage from dividing. To evaluate a potential therapeutic option for the patient, we treated her primary skin fibroblasts and BM HSCs with the mTOR inhibitor rapamycin. This led to prolonged survival and decreased levels of senescence in T1129P mutant fibroblasts. In contrast, the impaired HSC function could not be improved by mTOR inhibition, as colony forming capacity and multilineage engraftment potential in xenotransplanted mice remained severely impaired. Thus, rapamycin treatment did not rescue the compromised stem cell function of TERTT1129P mutant patient HSCs and outlines limitations of a potential DKC therapy based on rapamycin. PMID:26546739

  3. Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease

    Institute of Scientific and Technical Information of China (English)

    Mitsutaka; Ogawa; Koichi; Furukawa; Tetsuya; Okajima

    2014-01-01

    The O-linked β-N-acetylglucosamine(O-GlcNAc)ylation of cytoplasmic and nuclear proteins regulates basic cellular functions and is involved in the etiology of neurodegeneration and diabetes. Intracellular O-GlcNAcylation is catalyzed by a single O-GlcNAc transferase, O-GlcNAc transferase(OGT). Recently, an atypical O-GlcNAc transferase, extracellular O-linked β-N-acetylglucosamine(EOGT), which is responsible for the modification of extracellular O-GlcNAc, was identified. Although both OGT and EOGT are regulated through the common hexosamine biosynthesis pathway, EOGT localizes to the lumen of the endoplasmic reticulum and transfers GlcNAc to epidermal growth factor-like domains in an OGT-independent manner. In Drosophila, loss of Eogt gives phenotypes similar to those caused by defects in the apical extracellular matrix. Dumpy, a membrane-anchored apical extracellular matrix protein, was identified as a major O-GlcNAcylated protein, and EOGT mediates Dumpy-dependent cell adhesion. In mammals, extracellular O-GlcNAc was detected on extracellular proteins including heparan sulfate proteoglycan 2, Nell1, laminin subunit alpha-5, Pamr1, and transmembrane proteins, including Notch receptors. Although the physiological function of O-GlcNAc in mammals has not yet been elucidated, exome sequencing identified homozygous EOGT mutations in patients with Adams-Oliver syndrome, a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. This review summarizes the current knowledge of extracellular O-GlcNAc and its implications in the pathological processes in Adams-Oliver syndrome.

  4. Aspergillosis in immunocompromised children acute myeloid leukemia and bone marrow aplasia.: Report of two cases Aspergilose em crianças imunocomprometidas com leucemia mielóide aguda e aplasta de medula óssea: Registro de 2 casos

    Directory of Open Access Journals (Sweden)

    Maria Zilda de Aquino

    1994-10-01

    Full Text Available Two cases of Aspergillosis in immunocompromised children are reported. Both were caused by Aspergillns flavus. Early diagnosis and treatment led to the remission of the process. One patient had acute myeloid leukemia; the fungus was isolated from the blood. The other patient with bone marrow aplasia, presented an invasive aspergillosis of the paranasal sinuses with dissemination of fungal infection; the diagnosis was obtained by histology and culture of biopsied tissue from a palatal ulceration.No presente trabalho são registrados dois casos de aspergilose em crianças imunocomprometidas. O estudo micológico completo identificou Aspergillus flavus como agente dos dois processos. A presença cada vez mais frequente da aspergilose invasiva deve-se ao número crescente de pacientes imunocomprometidos, muitos com hemopatias graves submetidos à quimioterapia. O diagnóstico precoce em um dos casos possibilitou remissão do processo. Tratava-se de paciente com leucemia mielóide aguda, tendo sido isolado o fungo do sangue circulante. O segundo caso evoluiu para óbito, com infecção fúngica generalizada.

  5. Long-term outcome of individuals with pure red cell aplasia and antierythropoietin antibodies in patients treated with recombinant epoetin: a follow-up report from the Research on Adverse Drug Events and Reports (RADAR) Project

    Science.gov (United States)

    Bennett, Charles L.; Cournoyer, Denis; Carson, Kenneth R.; Rossert, Jerome; Luminari, Stefano; Evens, Andrew M.; Locatelli, Francesco; Belknap, Steven M.; McKoy, June M.; Lyons, E. Alison; Kim, Benjamin; Sharma, Rishi; Costello, Stacey; Toffelmire, Edwin B.; Wells, George A.; Messner, Hans A.; Yarnold, Paul R.; Trifilio, Steven M.; Raisch, Dennis W.; Kuzel, Timothy M.; Nissenson, Allen; Lim, Lay-Cheng; Tallman, Martin S.; Casadevall, Nicole

    2005-01-01

    Since its introduction in 1988, recombinant human erythropoietin (epoetin) has been standard treatment for patients with anemia due to chronic kidney disease. From 1998 to 2004, nearly 200 epoetin-treated persons with chronic kidney disease developed antibodies to epoetin, resulting in pure red cell aplasia (PRCA). The majority of these patients received Eprex, an epoetin alfa product marketed exclusively outside the United States. Herein, we report on the long-term outcome of these individuals. For 170 chronic kidney disease patients who developed epoetin-associated PRCA and had 3 months or more follow-up information available, case reports from the Food and Drug Administration and epoetin manufacturers were reviewed for information on clinical characteristics of the patients, immunosuppressive treatments, epoetin responsiveness, and hematologic recovery. Overall, 64% of the PRCA patients received immunosuppressive therapy, including 19 who also underwent a renal transplantation. Thirty-seven percent experienced a hematologic recovery, with higher hematologic recovery rates among PRCA patients who received immunosuppressive therapy (57% vs 2%, P < .001). Among 34 patients who received epoetin after the onset of PRCA, 56% regained epoetin responsiveness. The highest rates of epoetin responsiveness were observed among persons whose antierythropoietin antibodies were undetectable when epoetin was administered (89%). Among chronic kidney disease patients with epoetin-associated PRCA, epoetin discontinuation and immunosuppressive therapy or renal transplantation is necessary for hematologic recovery. Reinitiation of epoetin therapy among individuals could be considered if antierythropoietin antibodies are undetectable. PMID:16099877

  6. Characteristic analysis of monoblastic sarcoma cutis preceding acute monoblastic leukemia%以皮肤单核细胞肉瘤为首发表现的急性单核细胞白血病的特征研究

    Institute of Scientific and Technical Information of China (English)

    赵正娟; 杨映红; 田伟; 王育英; 林立航

    2012-01-01

    A 1-year-old boy developed multiple skin-colored nodules on the forehead and extremities when he was 4 months old.Physical examination revealed that his general condition was well with no hepatomegaly,splenomegaly,lymphadenectasis,testicle abnormality or gingival hypertrophy.Pathologically,the epidermis was normal,while the dermis and subcutaneous tissue were diffusely infiltrated with medium-to large-sized deformed cells,which had a small amount of cytoplasm,oval nucleus,irregular shape and fine chromatin.Some infiltrating cells had nuclear groove and nucleoli.Immunohistochemical studies showed that the tumor cells were positive for S-100 protein,CD56,CD123,CD163,CD68,Ki-67 (40%),weakly positive for CD4 (some),but negative for myeloperoxidase,CD1,CD21.Bone marrow smears showed a 24.5% infltration by monoblasts and promonocytes.A diagnosis of monoblastic sarcoma cutis preceding acute monoblastic leukemia was made.%患儿4个月始发病,以额头、四肢皮肤出现多发皮色结节为特征,一般情况好,未触及肝、脾、淋巴结肿大、睾丸无明显异常、牙龈无异常增生.皮损组织病理:表皮大致正常,真皮及皮下弥漫浸润的异形细胞,体积中等偏大,胞质少,核椭圆形,不规则形,染色质细,个别细胞可见核沟及核仁.免疫组化:S-100蛋白阳性,CD68阳性;CD1阴性,Ki-67阳性率40%;CD21阴性,CD4部分细胞弱阳性.髓过氧化物酶( MPO)阴性,CD56阳性,CD123阳性,CD163阳性.骨髓片见原、幼单核细胞占0.245.诊断:以皮肤单核细胞肉瘤为首发的急性单核细胞白血病.

  7. Crystal structure and phase transition studies in perovskite-type oxides using powder-diffraction techniques and symmetry-mode analysis : SrLnMRuO6 (Ln=La,Pr,Nd; M=Zn,Co,Mg,Ni,Fe) and ALn2CuTi2O9 (A=Ca,Ba; Ln=La,Pr,Nd,Sm)

    OpenAIRE

    Iturbe Zabalo, Edurne

    2013-01-01

    La tesis se ha centrado en la síntesis y caracterización estructural de materiales tipo perovskita: SrLnMRuO6 (Ln=La,Pr,Nd; M=Zn,Co,Mg,Ni,Fe) y ALn2CuTi2O9 (A=Ca,Ba; Ln=La,Pr,Nd,Sm). El estudio de las estructuras de los materiales se ha realizado mediante el análisis de los patrones de difracción en polvo de rayos-X, sincrotrón y/o neutrones. En el refinamiento por el método de Rietveld de las estructuras se han sustituido las coordenadas atómicas (el método más común), por coordenadas colect...

  8. Clinical importance of digitized chest X-ray for detection of pulmonary infiltrations in bone marrow transplant patients during aplasia; Wertigkeit der digitalen Thoraxaufnahme bei der Detektion von Lungeninfiltraten knochenmarktransplantierten Patienten in der Aplasie

    Energy Technology Data Exchange (ETDEWEB)

    Weber, C.; Maas, R.; Steiner, P.; Kramer, J.; Bumann, D.; Buecheler, E. [Universitaetskrankenhaus Eppendorf, Hamburg (Germany). Abt. fuer Roentgendiagnostik; Zander, A.R. [Universitaetskrankenhaus Eppendorf, Hamburg (Germany). Zentrum fuer Knochenmarktransplantation

    1999-10-01

    Purpose: Evaluation of digitized chest X-ray for the detection of pulmonary infiltrations in bone marrow transplant patients during aplasia. Methods: Digitized chest X-rays of 40 patients (21 female, 19 male) with 'Fever of unknown origin' (FUO) were evaluated concerning radiological signs of pulmonary infiltrations and correlated to clinical findings, blood chemistry, microbiology and bronchoscopy. Additionally, an individual risk profile was established. Results: In 11/40 patients pulmonary infiltrations were detected in digitized chest X-rays (group 1). 10/11 developed an infectious pulmonary infiltration. 29/40 patients developed no pulmonary infiltration (group 2). When fever increased for the first time (initial chest X-ray) a sensitivity, specificity, positive and negative predictive value of 46%, 86%, 56%, 81% and for the chest X-rays in process of 61%, 79%, 68% and 73% was found. C-reactive protein and temperature increase occured statistically significantly earlier (p<0.05) in group 1 compared to group 2. The average latency of digital chest X-rays in comparison to c-reactive protein and temperature increase was 6 days. The incidence of risk factors was significantly higher in group 1 in comparison to group 2 (p<0.05). Conclusion: Digitized chest X-rays are not a reliable method for primary detection of pulmonary infiltrations after bone marrow transplantation. Individual risk factors have to be taken into consideration to indicate further diagnostic methods such as computed tomography at an earlier time. (orig.) [German] Ziel: Wertigkeit der digitalen Thoraxaufnahme bei der Detektion pulmonaler Infiltrate bei knochenmarktransplantierten Patienten in der Aplasie. Methoden: Digitale Thoraxaufnahmen von 40 Patienten (21 Frauen, 19 Maenner) in Aplasie mit Fieber unklarer Genese wurden nach Zeichen pulmonaler Infiltrate ausgewertet und mit klinischen, laborchemischen, mikrobiologischen und bronchoskopischen Befunden korreliert. Zusaetzlich wurde ein

  9. Oral and Dental Findings of Dyskeratosis Congenita

    Directory of Open Access Journals (Sweden)

    Mine Koruyucu

    2014-01-01

    Full Text Available Dyskeratosis congenital (DC is a rare condition characterized by reticulate skin hyperpigmentation, mucosal leukoplakia, and nail dystrophy. More serious features are bone marrow involvement with pancytopenia and a predisposition to malignancy. The purpose of this case report is to describe the oral and dental findings in children with DC syndrome. A 10-year-old male diagnosed with DC was admitted because of extensive caries and toothache. Inadequate oral hygiene and extensive caries were observed in oral examination of the patient. Plaque accumulation was seen in gingival border of maxillary teeth. Papillary atrophy on the tongue was observed. Short and blunted roots of mandible incisors and upper and lower molars were determined on the radiographic examination. Dryness on the lips and commisuras, ectropion on his eyes, and epiphora were observed. Hematologic tests were performed and showed aplastic anemia at the age of 2. At the age of 4, the bone marrow transplantation was performed. Dermatological findings occurred after the bone marrow transplantation. The skin of the patient was thin, dry, and wrinkled in some areas. He had palmoplantar hyperkeratosis and syndactylia on his fingers. Endodontic treatment procedures were applied and other extensive caries are still being restored. The patient will be given full preventive care during regular follow-up. Oral hygiene was improved to the optimum level.

  10. Bilateral eyelid edema : Cutis laxa or blepharochalasis?

    NARCIS (Netherlands)

    Braakenburg, A; Nicolai, JPA

    2000-01-01

    A 59-year-old woman with massive bilateral edema of the upper and lower eyelids is presented. The edema occurred suddenly and without provocation. No cause could be identified despite a multitude of examinations. Initially the patient was diagnosed as having blepharochalasis, but later skin biopsy s

  11. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    Science.gov (United States)

    ... for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the ... the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues ...

  12. Effect of sinter temperature and double-press double-sinter on warm compaction prepared pure Cu-Ti3SiC2 composite%烧结温度和复压复烧对温压制备Cu-Ti3SiC2材料的影响

    Institute of Scientific and Technical Information of China (English)

    许小龙; 倪东惠; 张宝霞; 谢珩; 陈晓莞

    2014-01-01

    Using Cu and Cu coated Ti3SiC2 powders as raw materials, a series of Cu-Ti3SiC2 composites were prepared by employing warm compaction forming and double-press double-sinter techniques. Effects of sinter temperature, Ti3SiC2 content and double-press double-sinter on the properties of the prepared composites were studied. Composition and tribological behavior of the Cu-Ti3SiC2 composites were studied by X-ray diffractometer and a block-on-ring tribotester,respectively. Results show that Cu-Ti3SiC2 composites without impurity can be fabricated by sintering at 800℃; however, composites obtained by sintering at 1 000 ℃ contain TiC and TiSi2 impurities, which eventually impose adverse effect on the electrical conductivity and anti-friction ability of the composite. Double-press double-sinter can improve the density, hardness and electrical conductivity of the composites to certain degree, especially for the composite with high Ti3SiC2 content.%以Cu和表面镀有Cu的Ti3SiC2粉末为原料,采用温压压制成形和复压复烧技术制备一系列Cu-Ti3SiC2复合材料,研究不同烧结温度、Ti3SiC2含量以及复压复烧对材料性能的影响。采用XRD衍射仪、环块式摩擦磨损试验机等测试手段,研究Cu-Ti3SiC2复合材料的物相组成和摩擦磨损行为。研究结果表明:以800℃烧结可制得不含杂质的纯Cu-Ti3SiC2复合材料;而以1000℃烧结制得的复合材料中含有TiC和TiSi2杂质,这些杂质可影响材料的导电性能和减摩能力。复压复烧可使材料的密度、硬度以及导电性能得到不同程度的提高,尤其对于高Ti3SiC2含量的材料,其作用更为明显。

  13. Johanson-Blizzard syndrome

    OpenAIRE

    2011-01-01

    Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical sy...

  14. Redução cirúrgica da luxação do quadril em pacientes com artrogripose múltipla congênita: acesso anteromedial Open reduction of hip dislocation in patients with arthrogryposis multiplex congenita: an anteromedial approach

    Directory of Open Access Journals (Sweden)

    Luis Eduardo Munhoz da Rocha

    2010-01-01

    Full Text Available OBJETIVO: Avaliar os resultados do tratamento cirúrgico da luxação do quadril através do acesso anteromedial em pacientes com artrogripose múltipla congênita (AMC. MÉTODOS: Retrospectivamente foram revisados os prontuários e radiografias de sete crianças com AMC que apresentavam luxação do quadril, totalizando 10 quadris luxados. Foi avaliada a mobilidade articular pré e pós-operatória através da somatória do arco de mobilidade articular em flexão e abdução. Radiograficamente foram avaliados, no pré-operatório, o ângulo acetabular e a altura do colo do fêmur e, no pós-operatório, a continuidade do arco de Shenton, ângulo de Sharp e ângulo CE (centro borda. Quando foi identificada a necrose avascular, esta foi classificada segundo Ogden e Bucholz. RESULTADOS: A média de idade das crianças na ocasião da cirurgia era de 5,5 meses (três a 11 meses. O seguimento médio dos pacientes foi de 9,5 anos (dois a 13 anos. A média de amplitude de movimento da somatória do arco de mobilidade articular em flexão e abdução no exame pré-operatório foi de 108° (70 a 155° e no pós-operatório foi de 125° (75° a 175°. Na última avaliação, oito quadris estavam centrados e dois subluxados. Dois quadris foram submetidos a uma osteotomia de ilíaco do tipo Salter. Dois quadris apresentaram sinais significativos de necrose avascular Ogden tipo IV. Oito quadris foram considerados como bons resultados e dois como regulares. CONCLUSÃO: Consideramos a via anteromedial uma boa opção para tratamento da luxação de quadril em pacientes de baixa idade com artrogripose múltipla congênita.OBJECTIVE: To evaluate the results of the surgical treatment of hip dislocation through the anteromedial approach in patients with arthrogryposis multiplex congenita (AMC. METHODS: A retrospective review of the charts and radiographs of 7 children with AMC that presented dislocation of the hiprevised, totalling 10 dislocated hips. : Pre and

  15. Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.

    Science.gov (United States)

    Fallahi, Gholam Hossein; Sabbaghian, Mozhgan; Khalili, Manijeh; Parvaneh, Nima; Zenker, Martin; Rezaei, Nima

    2011-02-01

    Johanson-Blizzard syndrome is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus. Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome. It should be acknowledged that the combination of exocrine pancreatic insufficiency and nasal wing hypo-aplasia is pathognomonic for this syndrome. Prompt diagnosis and exact monitoring of the patients with JBS are required to avoid further complications. PMID:20556423

  16. Aerosol deposition of (Cu,Ti) substituted bismuth vanadate films

    International Nuclear Information System (INIS)

    Bismuth vanadate, Bi4V2O11, and related compounds with various metal (Me) substitutions, Bi4(MexV1−x)2O11−δ, show some of the highest ionic conductivities among the known solid oxide electrolytes. Films of Cu and Ti substituted bismuth vanadate were prepared by an aerosol deposition method, a spray coating process also described as room temperature impact consolidation. Resultant films, several microns in thickness, were dense with good adhesion to the substrate. Scanning electron microscopy and high temperature X-ray diffraction were used to monitor the effects of temperature on the structure and microstructure of the film. The particle size remained nano-scale while microstrain decreased rapidly up to 500 °C, above which coarsening and texturing increased rapidly. Impedance measurements of films deposited on inter-digital electrodes revealed an annealing effect on the ionic conductivity, with the conductivity exceeding that of a screen printed film, and approaching that of bulk ceramic. - Highlights: • Cu and Ti doped bismuth vanadate films were prepared by aerosol deposition (AD). • Dense 3–5 μm thick films were deposited on alumina, silicon and gold electrodes. • Annealing of the AD-layer increases the conductivity by 1.5 orders of magnitude. • Effect of temperature on structure and microstructure was investigated

  17. [Tuberculosis cutis luposa gigantea with Mycobacterium bovis detection].

    Science.gov (United States)

    Bonnekoh, B; Schütt-Gerowitt, H; Thiele, B; Mahrle, G

    1990-10-01

    In an 80-year-old woman, retired farmworker, we observed lupus vulgaris extending over more than half of her leg. The extreme size of the affected area made us talk of a giant form in this case. Bacteriological investigation revealed Mycobacterium bovis. The minimal amount of tuberculin required to induce a positive intradermal reaction was 10 IU (GT Behring). Another case with similar dimensions (reported by Christiansen in 1967) had been caused by Mycobacterium avium and developed over a period of at least 5 years. The vast cutaneous affection of our patient, in contrast, had developed within only one year, starting from a brownish macula of the size of a palm on her upper leg. This macula - presumably the manifestation of quiescent lupus vulgaris - had not changed for more than 40 years. This late exacerbation of post-primary tuberculosis might have been favored by the patient's reduced immunologic resistance on account of her advanced age. In addition, local cofactors - namely ankylosis of her knee and contact eczematous dermatitis - have to be considered. In accordance with the resistogram, the disease responded to monotherapy with isoniazide. PMID:2291294

  18. Walking ability in patients with arthrogryposis multiplex congenita

    Directory of Open Access Journals (Sweden)

    Perajit Eamsobhana

    2014-01-01

    Conclusion: AMC is a rare disease that causes disability, requiring multiple surgeries to correct deformities. Our study showed that residual knee flexion contracture was associated with nonambulatory status of patients with AMC.

  19. Aerosol deposition of (Cu,Ti) substituted bismuth vanadate films

    Energy Technology Data Exchange (ETDEWEB)

    Exner, Jörg, E-mail: Functional.Materials@Uni-Bayreuth.de [University of Bayreuth, Department of Functional Materials, Universitätsstraße 30, 95440 Bayreuth (Germany); Fuierer, Paul [Materials and Metallurgical Engineering Department, New Mexico Institute of Mining and Technology, Socorro, NM 87801 (United States); Moos, Ralf [University of Bayreuth, Department of Functional Materials, Universitätsstraße 30, 95440 Bayreuth (Germany)

    2014-12-31

    Bismuth vanadate, Bi{sub 4}V{sub 2}O{sub 11}, and related compounds with various metal (Me) substitutions, Bi{sub 4}(Me{sub x}V{sub 1−x}){sub 2}O{sub 11−δ}, show some of the highest ionic conductivities among the known solid oxide electrolytes. Films of Cu and Ti substituted bismuth vanadate were prepared by an aerosol deposition method, a spray coating process also described as room temperature impact consolidation. Resultant films, several microns in thickness, were dense with good adhesion to the substrate. Scanning electron microscopy and high temperature X-ray diffraction were used to monitor the effects of temperature on the structure and microstructure of the film. The particle size remained nano-scale while microstrain decreased rapidly up to 500 °C, above which coarsening and texturing increased rapidly. Impedance measurements of films deposited on inter-digital electrodes revealed an annealing effect on the ionic conductivity, with the conductivity exceeding that of a screen printed film, and approaching that of bulk ceramic. - Highlights: • Cu and Ti doped bismuth vanadate films were prepared by aerosol deposition (AD). • Dense 3–5 μm thick films were deposited on alumina, silicon and gold electrodes. • Annealing of the AD-layer increases the conductivity by 1.5 orders of magnitude. • Effect of temperature on structure and microstructure was investigated.

  20. Enfermedad de Chagas-Mazza congenita en Salta

    OpenAIRE

    Contreras Silvia; Fernandez María Rosa; Agüero Fernando; Desse Desse Javier; Orduna Tomás; Martino Olindo

    1999-01-01

    Se estudió la infección por T. cruzi en mujeres embarazadas en la localidad de General Güemes, provincia de Salta. La misma fue del 12,3 %. El 8,8% de los recién nacidos estudiados tuvieron diagnóstico de Enfermedad de Chagas utilizando la técnica directa (microhematocrito). Todos fueron tratados con benznidazol a razón de 5mg/kg/día durante 30 dias. Todos presentaron anemia, que fue interpretada como reacción adversa medicamentosa. Se estima que la técnica directa representa la mejor opción ...

  1. Marrow aplasia following colchicine treatment for gouty arthritis.

    Science.gov (United States)

    Ferrannini, E; Pentimone, F

    1984-01-01

    A 69-year-old man was given 8 mg of colchicine intravenously to treat an acute attack of gout. A maintenance dose of 2 mg/day of oral colchicine was then used to prevent recurrence. Three months later, the patient developed thrombocytopenia, followed by leukopenia and then by anemia at three and four months distance, respectively. The patient had shown no signs of acute toxicity with intravenous colchicine, but liver enzymes were raised after two months of oral treatment. The sequential involvement of the three blood precursor lines, in the order to their physiological half-lives, suggests direct toxicity, rather than idiosyncrasy, due to slow accumulation of the drug within target cells. The prophylactic use of colchicine, especially in the elderly, is questioned. PMID:6532622

  2. Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency.

    Science.gov (United States)

    Gerard-Blanluet, Marion; Port-Lis, Marylin; Baumann, Clarisse; Perrin-Sabourin, Laurence; Ebrad, Patrick; Audry, Georges; Delezoide, Anne-Lise; Verloes, Alain

    2010-11-01

    Prune-belly sequence (PBS) usually results from early urethral obstruction. In rare cases, PBS seems to be due to a faulty primary development of the parietal mesenchyme leading to underdevelopment of the abdominal wall musculature, and disorganization of the smooth muscles in the urinary tract. We report on two patients with segmental, unilateral wall musculature deficiency associated with homolateral agenesis of ribs. One patient also had hemivertebrae and the other one ipsilateral diaphragmatic eventration and aplasia cutis. This combination of anomalies may represent a localized deficiency in the development of somitic mesoderm mesenchyme during early embryogenesis. PMID:20949627

  3. Homocystinuria due to cystathionine beta synthase deficiency

    Directory of Open Access Journals (Sweden)

    Rao T

    2008-01-01

    Full Text Available A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 µmol/L (normal levels: 5.90-16µmol/L. Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the muscle spasms as well as skin manifestations such as cutis marmorata subsided. The treatment is being continued; the case is reported here because of its rarity. Homocysteinuria arising due to cystathionine beta-synthase (CBS deficiency is an autosomal recessive disorder of methionine metabolism that produces increased levels of urinary homocysteine and methionine It manifests itself in vascular, central nervous system, cutaneous, and connective tissue disturbances and phenotypically resembles Marfan′s syndrome. Skin manifestations include malar flush, thin hair, and cutis reticulata / marmorata.

  4. Capillary malformations: a classification using specific names for specific skin disorders.

    Science.gov (United States)

    Happle, R

    2015-12-01

    The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of

  5. Johanson-Blizzard syndrome.

    Science.gov (United States)

    Almashraki, Nabeel; Abdulnabee, Mukarram Zainuddin; Sukalo, Maja; Alrajoudi, Abdullah; Sharafadeen, Iman; Zenker, Martin

    2011-10-01

    Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical symptoms of JBS. In addition, a new clinical feature which has not previously been documented, that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed. A molecular study was performed which revealed a novel homozygous UBR1 mutation. Possible explanations for this new association are discussed. PMID:22072859

  6. Post-injection embolia cutis medicamentosa – Nicolau Syndrome: case report and literature review

    OpenAIRE

    Carlos Alberto Araujo Chagas; Tulio Fabiano de Oliveira Leite; Lucas Alves Sarmento Pires

    2016-01-01

    Abstract We report on the case of a 40-year-old male who was admitted to the clinic with a large ulcer on his left buttock, 3 days after an intramuscular benzathine penicillin injection. The patient was diagnosed with Nicolau syndrome, a rare vascular complication in which a lesion develops after intramuscular injection. Symptoms are intense pain at the injection site, erythema, and livedoid dermatitis, which leads to necrosis of skin, subcutaneous tissue and muscle tissue. It was described b...

  7. Sweet′s Syndrome Leading To Acquired Cutis Laxa (Marshall′s Syndrome) In A Child

    OpenAIRE

    Narayanan Meenakshi; Phiske Meghana; Jerajani H R; Dhurat Rachita

    2004-01-01

    Acute febrile neutrophilic dermatosis (AFND), commonly known as Sweetâ€s syndrome, is a disorder seen in adult females, being extremely rare in children. Typical features include spiky fever, sudden eruption of raised painful erythematous to plum-colored nodules and plaques, neutrophilic leucocytosis, a dermal neutrophili infiltrate an a rapid response to systemic steroid. The eruption is believed to represent a hypersensitivity reaction to an antecedent infection or malignancy....

  8. EFEITO AGUDO DA REEDUCAÇÃO POSTURAL GLOBAL SOBRE A ESCOLIOS CONGENITA

    Directory of Open Access Journals (Sweden)

    BARACAT, P. J. F.

    2015-09-01

    Full Text Available A escoliose é uma deformidade tridimensional da coluna vertebral1 que pode ocorrer em qualquer fase da vida, por diferentes razões, porém, quando iniciada de forma prematura, na infância ou durante o período gestacional, maior o risco de se tornar grave3 e necessitar de tratamento cirúrgico. A Reeducação Postural Global (RPG tem sido bastante utilizada no tratamento conservador das escolioses2 , de forma isolada ou aliada ao uso de colete de Milwaukee quando ainda existe crescimento ósseo e a angulação é maior que 30 o Cobb1 . As consultas com periodicidade semanal constam de posturas de alongamento progressivo das cadeias musculares de coordenação motora visando diminuir a retração assimétrica dos músculos paravertebrais responsáveis pela manutenção e agravamento das curvaturas escolióticas1,4. O objetivo do estudo foi avaliar o efeito imediato de um atendimento de reeducação postural global sobre a angulação da escoliose congênita cérvico torácica. Paciente masculino, 8 anos, portador de escoliose cervical esquerda e torácica a direita submetido a consulta de Reeducação Postural Global. Foram realizadas posturas para retração das grandes cadeias musculares anterior e posterior e posturas sentado e em pé no centro. Foram capturadas imagens no pré e pós imediato ao atendimento e utilizado o aplicativo Linea Measure Tools para ipad para obter as medidas de angulação da curvatura cervico torácica e de elevação do ângulo inferior da escápula. Os resultados das imagens no plano frontal, vista posterior evidenciaram melhor alinhamento do eixo vertebral; menor inclinação da cabeça e consequentemente da escoliose cervical; retorno da escápula direita e melhor alinhamento da cintura escapular. Conclui-se que a Reeducação Postural Global é um método eficaz para o tratamento da escoliose estrutural congênita porém estudos mais amplos e corte longitudinal são necessários para que sejam alcançadas conclusões mais sólidas.

  9. A Case of Dyskeratosis Congenita%先天性角化不良1例

    Institute of Scientific and Technical Information of China (English)

    贝宏; 刘超; 刘品梅; 陈诗平

    2013-01-01

    患者男,19岁.全身皮肤色素沉着9年,甲萎缩6年,溢泪4年.有典型的临床表现,即皮肤网状色素沉着、指趾甲萎缩、口腔黏膜白斑,伴鼻泪管堵塞、多泪、慢性口腔炎和慢性腹泻.皮损组织病理示:腋下皮损轻度角化过度,表皮萎缩,基底细胞液化变性,真皮浅层较多噬黑素细胞.舌部白斑示黏膜鳞状上皮增生,颗粒层增厚,角化过度,固有层慢性炎症.确诊先天性角化不良.%A 19-year-old male presented with whole body skin pigmentation nine years,onychatrophy 6 years,tear overflowing 4 years.The patients presented with typical clinical manifestation such as widespread reticulated and hyperpigmented patches with poikilodermatous appearances,nail atrophy,leukoplakia and blockage of nasolacrimal canal,hyperdacryosis,chronic stomatitis and chronic diarrhea.Histopathologic examination revealed that there were mild hyperkeratosis,atrophy of epidermis,liquifaction degeneration of basal cells,lots of phago pigment cells in superficial dermis from lesion of the armpit and there were proliferation of mucosa squamous epithelium,thickening and hyperkeratosis of stratum granulosum,chronic inflammation of lamina propria from lesion of tongue leukoplakia.

  10. Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.

    Science.gov (United States)

    Coelho, Joana Dias; Lestre, Sara; Kay, Teresa; Lopes, Maria João Paiva; Fiadeiro, Teresa; Apetato, Margarida

    2011-01-01

    Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects. PMID:21736606

  11. Oral manifestations in Urbach--Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae).

    Science.gov (United States)

    Hofer, P A; Bergenholtz, A

    1975-01-01

    The oral manifestations in 27 patients with Urbach--Wiethe disease (UWD) discovered in Northern Sweden are described. The oral regions most frequently affected are the lips, the back of the tongue, the frenulum of the tongue, the palate and the back wall of the pharynx. The general impression is that older patients usually have more marked manifestations than younger, indicating that the oral lesions may become more severe with increasing age. Histopathologically, the disorder is essentially a microangiopathy in which the walls of small blood vessels are thick and PAS-positive, indicating the presence of glycoproteins. In clinically affected regions there are usually PAS-positive extravascular deposits. In material used of lipid histochemical studies, sudanophil droplets were found in the vessel walls. By staining with osmium tetroxide the osmium is--contrary to previous assumptions--in some way bound to the droplets, but for unknown reasons is not reduced to a coloured product. The binding of osmium was demonstrated by the OTAN (osmium textroxide alpha-naphthylamine) method. The exact significance of this finding awaits further studies. The implications of dental anomalies occurring in UWD are discussed. PMID:1054442

  12. Pengaruh Pembebasan Bersyarat Dan Cuti Mengunjungi Keluarga Terhadap Perilaku Narapidana Di Lembaga Pemasyarakatan Klas I Medan

    OpenAIRE

    Dat, Menda

    2010-01-01

    Philosophically, instutionalization is a rehabilitation system that has far leaved the retrebutive philosophy ( revenge), deterence and resociallization. In the article 2 of the Laws no.12 of 1995 regarding rehabilitation, it is confirmed that the objective of the rehabilitation system is implemented for building a rehabilitated community to b actual comonity, bewaring their mistake, correcting themselves and even can actively participate in development and can make their life properly as a g...

  13. Enfermedad de Chagas congenita en la Ciudad de Salta, Argentina Congenital Chagas' disease in Salta, Argentina

    Directory of Open Access Journals (Sweden)

    Mario Zaidenberg

    1993-02-01

    Full Text Available Se estudió la respuesta clínica y serológica a la infección chagásica de 937 embarazadas y sus 929 recién nacidos (RN vivos, grupo I; 4 RN de origen diverso, grupo II y 35 RN derivados de otros centros, grupo III. Las embarazadas se estudiaron con 3 reacciones serológicas; se definió infección cuando 2 o más reacciones eran positivas. En los RN el diagnóstico se confirmó por observación directa del T. cruzi en una muestra de sangre. Los RN con Chagas congénita (RN-ChC fueron tratados y seguidos con estudios clínicos y de laboratorio. Se detectaron 149 embarazadas chagásicas (15.9%, de las cuales se diagnosticaron 6 RN-ChC (4%. En el total de 968 RN estudiados se detectaron 12 RN infectados. El micro-hematócrito fue el método parasitológico de lectura rápida más efectivo para el diagnóstico de infección en nuestra serie. El par de reacciones serológicas específicas constituyó un criterio de mayor seguridad para el control y seguimiento de la infección congénita. Las expresiones clínicas más comunes de infección fueron hepatomegalia, esplenomegalia, ictericia, anemia y prematurez, con distintos grados de asociación. Se concluye que dadas las características clínicas de la enfermedad de Chagas congénita en nuestro medio, se impone como estrategia el diagnóstico serológico para la enfermedad de Chagas en todas las embarazadas y el control y seguimiento de sus RN hasta descartar o confirmar infección congénita.The immune response to Trypanosoma cruzi was studied in our hospital in 937 pregnant women (PW and their 929 newborns (NB, group I; 4 NB from this center not included in the first group, group II and 35 NB derived from other centers, group III. Two positive results among indirect hemagglutination (IHA, complement fixation (CF and indirect hemagglutination (IHA, complement fixation (CF and indirect immunofluorescence (IIF tests were considered as the criterion of previous infection with T. cruzi in PW. The presence of T. cruzi in blood, explored in fresh smears by serial micro-hematocrite and/or by xenodiagnosis, was the only criterion to define infection in NB. All NB were followed up by direct agglutination (DA with or without 2 mercaptoethanol (DA-w2ME, DA-wo2ME and IIF in order to establish the specific antibody kinetics. Clinical studies on NB with T. cruzi infection include routine laboratory tests. Benznidazole (3 to 7 mg/kg/day and, in 1 case, nifurtimox (15 mg/kg/day were employed as therapeutic agents. T. cruzi infection was confirmed in 149 PW (15.9%, table I. These chagasic mothers delivered 6 chagasic NB (CCHD-NB, (4%. Diagnosis of congenital Chagas' disease accounted for a total of 12 NB out of the 968 studied. 4 out of them were positive by both micro-hematocrite and blood smears and 7 by micro-hematocrite alone. Xenodiagnosis was performed in 2 NB resulting positive in both cases, table II. The most usual clinical findings included hepatomegaly (present in all cases, splenomegaly 8/12, jaundice 10/12 and prematurity 5/12, table 3. Laboratory findings showed anemia to be of hypochromic microcytic type in all cases. Other laboratory findings included lymphocytosis, normal erythrosedimentation, slight to moderate increase of transaminases in all cases, and elevated indirect bilirrubin in cases with jaundice, table 4. Analysis of cerebro spinal fluid in 6 CCh-NB revealed the presence of T. cruzi in 2 cases, plus abnormal cytochemical content in one of them, table 4. The serological reactions of infected and treated NB became negative between 4th and 8th month in all but 1 case that remained positive until 14th, fig. 1. A close correlation was found between DA and IIF. DA-w2ME liter showed a significant drop during the initial phase of the controls. Benznidazole was successful in 11 out of the 12 CCh-NB. The remaining NB was effectively treated with nifurtimox. Therapeutic tolerance was satisfactory for both agents. These observations showed that congenital Chagas' disease in patients attending the hospital de Maternidad e Infancia from Salta appeared mostly oligosymptomatic. In agreeement with previous reports, micro-hematocrites appeared to be the method of choice for the rapid detection of T. cruzi infection in NB. Two concordant serologic reactions showed to be a satisfactory criterion for the follow up of infected NB. Due to scarce clinical manifestations of congenital Chagas' disease in NB, our results strongly suggest the surveillance of all offsprings to either confirm or discard the presence of infection.

  14. Low Temperature Anomalies in the Plasticity of Cu-Ti Alloys

    Science.gov (United States)

    Moriya, Takeshi; Murata, Yasuo; Murase, Shinichi; Yoshimura, Osamu

    1991-12-01

    Low temperature anomalies in the flow stress were found for the super saturated alloys of Cu-5 at.%Ti below about 40 K. Similar anomalies were also found for the specimens decomposed spinodally. These are consistent with our previous model. The shoulders at higher temperatures on the stress-temperature curves were interpreted as corresponding to the onset of short ranged unzippings generally accompanied by the transition from over to under damping mode of dislocation oscillations.

  15. Telomere dynamics in dyskeratosis congenita: the long and the short of iPS

    Institute of Scientific and Technical Information of China (English)

    Suneet Agarwal; George Q Daley

    2011-01-01

    Seminal experiments by Hayflick in the 1960s demonstrated that normal human diploid cells have a finite replicative life span in culture [1].The Hayflick "limit" is explained at least in part by the decay in telomeres, repeat sequences that cap the ends of chromosomes [2].

  16. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ) or thinning of the bones ( osteoporosis ). Adrenal hypoplasia ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  17. When does action comprehension need motor involvement? Evidence from upper limb aplasia.

    Science.gov (United States)

    Vannuscorps, Gilles; Andres, Michael; Pillon, Agnesa

    2013-01-01

    Motor theories of action comprehension claim that comprehending the meaning of an action performed by a conspecific relies on the perceiver's own motor representation of the same action. According to this view, whether an action belongs to the motor repertoire of the perceiver should impact the ease by which this action is comprehended. We tested this prediction by assessing the ability of an individual (D.C.) born without upper limbs to comprehend actions involving hands (e.g., throwing) or other body parts (e.g., jumping). The tests used a range of different visual stimuli differing in the kind of information provided. The results showed that D.C. was as accurate and fast as control participants in comprehending natural video and photographic presentations of both manual and nonmanual actions, as well as pantomimes. However, he was selectively impaired at identifying point-light animations of manual actions. This impairment was not due to a difficulty in processing kinematic information per se. D.C. was indeed as accurate as control participants in two additional tests requiring a fine-grained analysis of an actor's arm or whole-body movements. These results challenge motor theories of action comprehension by showing that the visual analysis of body shape and motion provides sufficient input for comprehending observed actions. However, when body shape information is sparsely available, motor involvement becomes critical to interpret observed actions. We suggest that, with natural human movement stimuli, motor representations contribute to action comprehension each time visual information is incomplete or ambiguous. PMID:24215324

  18. Telomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice with aplastic anemia.

    Science.gov (United States)

    Bär, Christian; Povedano, Juan Manuel; Serrano, Rosa; Benitez-Buelga, Carlos; Popkes, Miriam; Formentini, Ivan; Bobadilla, Maria; Bosch, Fatima; Blasco, Maria A

    2016-04-01

    Aplastic anemia is a fatal bone marrow disorder characterized by peripheral pancytopenia and marrow hypoplasia. The disease can be hereditary or acquired and develops at any stage of life. A subgroup of the inherited form is caused by replicative impairment of hematopoietic stem and progenitor cells due to very short telomeres as a result of mutations in telomerase and other telomere components. Abnormal telomere shortening is also described in cases of acquired aplastic anemia, most likely secondary to increased turnover of bone marrow stem and progenitor cells. Here, we test the therapeutic efficacy of telomerase activation by using adeno-associated virus (AAV)9 gene therapy vectors carrying the telomeraseTertgene in 2 independent mouse models of aplastic anemia due to short telomeres (Trf1- andTert-deficient mice). We find that a high dose of AAV9-Terttargets the bone marrow compartment, including hematopoietic stem cells. AAV9-Terttreatment after telomere attrition in bone marrow cells rescues aplastic anemia and mouse survival compared with mice treated with the empty vector. Improved survival is associated with a significant increase in telomere length in peripheral blood and bone marrow cells, as well as improved blood counts. These findings indicate that telomerase gene therapy represents a novel therapeutic strategy to treat aplastic anemia provoked or associated with short telomeres. PMID:26903545

  19. Failure of Femoral Access to Electrophysiological Evaluation Due to Aplasia of the Inferior Vena Cava

    Science.gov (United States)

    Parahuleva, Mariana S.; Burgazli, Mehmet; Soydan, Nedim; Franzen, Wolfgang; Güttler, Norbert; Erdogan, Ali

    2016-01-01

    We report an interesting case of a man with a persistent left superior vena cava (PLSVC) with left azygos vein who underwent electrophysiological evaluation. Further evaluation revealed congenital dilated azygos vein, while a segment connecting the inferior vena cava (IVC) to the hepatic vein and right atrium was missing. The azygos vein drained into the superior vena cava, and the hepatic veins drained directly into the right atrium. The patient did not have congenital anomalies of the remaining thoracoabdominal vasculature. PMID:27257399

  20. Pathology of renal dysplasia and bladder aplasia-hypoplasia in a flock of sheep.

    Science.gov (United States)

    O'Toole, D; Jeffrey, M; Jones, T; Morgan, G; Green, R

    1993-10-01

    Congenital renal disease was detected in a flock of sheep in the English Midlands over 2 successive years (1982 and 1983). A Suffolk ram was removed from the flock and test mated to unrelated Suffolk ewes in another flock; 14 of the resulting 43 lambs born in 1984 had an identical congenital renal disease. Kidneys were examined microscopically from 60 clinically affected neonatal lambs. Kidneys from 7 of the 60 clinically affected neonatal lambs (1, 1983; 6, 1984) were examined ultrastructurally and compared with kidneys from 3 healthy unrelated neonatal lambs. Most affected lambs examined (52/60) had bilaterally small kidneys (multicystic and of normal size to markedly enlarged (5/60 lambs). The bladder was absent or vestigial in most lambs. Microscopically, poorly differentiated ("primitive") tubules were present in renal cortex and medulla. Proximal convoluted tubules, where present, were formed by epithelial cells with distinctive round weakly autofluorescent intracytoplasmic inclusions with the ultrastructural appearance of atypical lysosomes. Loops of Henle, distal convoluted tubules, and juxtaglomerular-peripolar cell complexes were largely absent. Glomerular changes were minimal. Cystic dilatation of nephrons was restricted to proximal convoluted tubules lined by vacuolated epithelium. This distinctive congenital renal dysplasia of sheep was most likely inherited as a dominant trait with complete penetrance. PMID:8286460

  1. Small ureterocele-like Gartner's duct cyst associated with ipsilateral renal aplasia: a case report

    International Nuclear Information System (INIS)

    A four-year-old girl presented with abdominal pain. There was no history of fever, recurrent attacks of urinary infections or other systemic symptoms. Clinical examination was within normal limits. An ultrasonogram of the abdomen revealed a well-defined sonolucent lesion in the posterolateral wall of the urinary bladder protruding into the lumen of the bladder. The left kidney was absent. An ureterocele was suspected. Excretory urography confirmed an absent left kidney with typical ureterocele-like impression in the bladder base. Renography with Tc99m dimercaptosuccinic acid showed normal function in the right kidney. Contrast-enhanced CT demonstrated a tubulocystic lesion in the bladder base protruding into the bladder. Cystoscopy showed an extrinsic impression with no internal opening. As the patient was asymptomatic, the lesion was followed for 4 years and there was no progression of the lesion. Copyright (2001) Blackwell Science Pty Ltd

  2. Medullary aplasia secondary to an irradiation accident: Treatment options and evolution of the concepts

    International Nuclear Information System (INIS)

    Bone marrow grafting following accidental irradiation exposure should be viewed in the perspective of a severe myeloablative syndrome linked to high medullary damage for a dose range higher than 6-8 Gy, resulting in very late or no recovery. Prognosis will depend on the presence or absence of radio-combined injuries, the toxicity of the transplant procedure, and the risk of rejection induced by insufficient percritical immunosuppression. It is in this context that new cell therapy modalities, which combine enhanced peripheral hematopoietic cell engraftment and high immunosuppressive conditioning regimen with low extrahematological toxicity, inducing early and stable mixed lymphomyeloid chimerism with minimal morbidity, can be considered. Such an approach is being evaluated in the treatment of patients with hematological malignancies at high risk of transplant-related mortality using conventional bone marrow methods. (author)

  3. Disease: H00507 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00507 Dyskeratosis congenita (DC), including: X-linked dyskeratosis congenita (DKCX); Autosomal ... tified to date share a link to telomere/telomerase biology . Moreover, dyskeratosis congenita is linked to def ...

  4. CALCINOSIS CUTIS METASTÁSICA: CALCIFILAXIS (ARTERIOLOPATÍA URÉMICA CALCIFICADA. A PROPÓSITO DE UN CASO. [METASTATIC CALCINOSIS CUTIS: CALCIPHYLAXIS (CALCIFIED UREMIC ARTERIOLOPATHY. A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Lourdes Bolla de Lezcano

    2013-07-01

    Full Text Available Resumen La calcifilaxis es un síndrome clínico caracterizado por una calcificación vascular progresiva que ocasiona la aparición de lesiones violáceas, frecuentemente dolorosas, en la piel de pacientes con insuficiencia renal crónica, diálisis o trasplante renal, asociado usualmente a niveles elevados de hormona paratiroidea. Se presenta el caso clínico de una mujer de 44 años, diabética con insuficiencia renal crónica, en hemodiálisis desde hace 2 años, que fue diagnosticada de calcifilaxis tras sospecha clínica y biopsia de lesiones cutáneas. Abstract Calciphylaxis is a clinical syndrome characterized by progressive vascular calcification that causes the appearance of purplish lesions, often painful, in the skin of patients with chronic renal failure, dialysis or kidney transplantation, usually associated with elevated levels of parathyroid hormone. We report a case of a 44-year-old diabetic woman with chronic renal failure on hemodialysis for 2 years. She was diagnosed with calciphylaxis after clinical suspicion and biopsy of skin lesions.

  5. De eerste pasgeborene met congenitaal rubellasyndroom tijdens de rubella-epidemie in Nederland in 2004-'05

    NARCIS (Netherlands)

    Mol, A.C. de; Vrancken, S.L.A.G.; Eggink, A.J.; Verduyn Lunel, F.M.; Warris, A.

    2006-01-01

    A newborn male was diagnosed with congenital rubella syndrome. His 31-year-old mother had had erythematous exanthema during a period of amenorrhea lasting 7 weeks; she was not vaccinated and had never had a rubella infection. The infection was confirmed serologically. The mother gave birth to an ict

  6. "Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

    OpenAIRE

    Happle, R; Barbi, G; Eckert, D.; Kennerknecht, I.

    1997-01-01

    An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 years old patient with various other cogenital defects, such as dysmorphic facial appearance, severe kyphoscoliosis, delayed motor development, epileptic seizures, and mental retardation. We suggest the combination of hyper- and hypopigmented cutaneous lesions is an example of allelic twin spotting. Because the skin of this patient showed three different degr...

  7. PRENATAL ULTRASOUND SCREENING TO DIAGNOSE CONGENITA L ANOMALIES AMONG ONE THOUSAND UNSELECTED WOMEN AND THEIR PREGNANCY OUTCOME

    Directory of Open Access Journals (Sweden)

    Jhuma

    2013-03-01

    Full Text Available ABSTRACT: OBJECTIVES: Purpose of our study was to determine the detection rate of congenital anomalies in second trimester by single prenatal ultrasound screening in an unselected population and to evaluate the subsequent pregnancy outcome and to compare the results with published series using standardized cri teria. SUBJECTS AND METHODS - One thousand pregnant women at 18-22 weeks’ gestation we re screened by prenatal ultrasound examination. We compared these sonographic reports wit h pregnancy outcomes established by postnatal echocardiography and ultrasound examinatio ns of neonates and autopsy for dead fetuses. Statistical analysis was performed on two u nits; malformed fetus and malformation itself. RESULTS - A total of 27 fetuses with 30 anomalies were iden tified by prenatal ultrasound. Prospectively 2 babies with 2 anomalies were found t o be normal. On postnatal examination 13 babies were found to have 14 anomalies which could not be detected by ultrasound. Thus the sensitivity of ultrasound in detecting congenital a nomalies and anomalous fetuses was 66.6% and 67.5% respectively. Highest detection rate was o bserved for CNS anomalies (88.8% but that of craniofacial and musculoskeletal anomalies was not very satisfactory (33% in each system. CONCLUSION -This study shows rate of detection of fetal anomal ies is satisfactory for most organ systems except cardiac, musculoskeletal a nd craniofacial malformations

  8. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

    DEFF Research Database (Denmark)

    Holman, Sk; Morgan, T; Baujat, G; Cormier-Daire, V; Cho, T-J; Lees, M; Samanich, J; Tapon, D; Hove, Hanne Buciek; Hing, A; Hennekam, R; Robertson, Sp

    2013-01-01

    sclerosis, with a high prevalence of cleft palate and hearing loss. Intellectual disability or neurodevelopmental delay is not observed in females with point mutations in WTX leading to OSCS. One female has been described with a deletion spanning multiple neighbouring genes suggesting that deletion of some...

  9. Tratamiento de la sifilis gestacional y prevencion de la sifilis congenita en un hospital de iii nivel. bogota, colombia.

    OpenAIRE

    Rubio Romero, Jorge Andrés

    2013-01-01

    RESUMENObjetivo: evaluar el cumplimiento de las recomendaciones del Centro de Control de Enfermedades (CDC) para el tratamiento en casos intrahospitalarios de sífilis gestacional y congénita. Metodología: estudio retrospectivo basado en registros de notificación e historias clínicas de gestantes y neonatos de un hospital terciario público de Bogotá entre  enero 1 y Octubre 31 de 2010. Se describen las variables demográficas de las mujeres con diagnóstico de sífilis gestacional y sus hijos, el...

  10. FEATURES OF THE X-RAY ANATOMICAL CONDITIONS OF THE FOOT AND ANKLE IN CHILDREN WITH FIBULAR APLASIA

    Directory of Open Access Journals (Sweden)

    Dmitry Stepanovich Buklaev

    2013-03-01

    Full Text Available The article contains the results of the analysis of radiographs of the foot and ankle in 84 children with malformations of the fibula. We found that infants’ relation to the ankle joint is often normal, as in the sagittal and frontal planes. With increasing age the number of posterior subluxation increases as well as anteriorly, laterally. Also dislocations of the foot were presented. The most significant relationships were violations of the subtalar joint. There were pronation, supinatsion, positions of calcaneus bone and its lateroposition, which was the most frequent cause of valgus deformity. Also we found a violation of the form of the talus such as a flattening of the block, smoothing of the neck. In rare cases of the varus deformity of the foot abnormalities of the tarsal bones were observed.

  11. Allogeneic Th1 Cells Home to Host Bone Marrow and Spleen and Mediate IFNγ-Dependent Aplasia

    OpenAIRE

    Chewning, Joseph H.; Zhang, Weiwei; Randolph, David A.; Swindle, C. Scott; Schoeb, Trenton R.; Weaver, Casey T.

    2013-01-01

    Bone marrow graft failure and poor graft function are frequent complications following hematopoietic stem cell transplantation and result in significant morbidity and mortality. Both conditions are associated with graft versus host disease (GVHD), although the mechanism remains undefined. Here we show in two distinct murine models of GVHD (complete MHC- and class II-disparate) that mimic human peripheral blood stem cell transplantation that Th1 CD4+ cells induce bone marrow failure in allogen...

  12. Gene therapy strategy to reduced bone marrow aplasia: evaluation in cynomolgus macaque exposed to a gamma total body irradiation

    International Nuclear Information System (INIS)

    The aim of this work was to assess whether direct intra-marrow injection of an adeno-viral vector expressing human IL-1α gene stimulates hematopoiesis in healthy non-irradiated and gamma irradiated cynomolgus macaques. In the first hand, we have evaluated the feasibility of this gene therapy strategy in two healthy non-irradiated macaques. In this work, we have observed an increase of neutrophil, monocyte and platelets in the two animals treated with the therapeutic construct. This effect was associated with no abnormal clinical side effect. On the other hand, we have evaluated this strategy in non-human primate exposed to a sublethal gamma irradiation. Two of three animals treated by the therapeutic construct reduced significantly the neutropenia, thrombocytopenia and anemia radio-induced. In conclusion, this gene therapy strategy gave a similar clinical benefit comparatively to systemic administration of huIL-1α but without severe side effect. (author)

  13. Reduced BMP Signaling Results in Hindlimb Fusion with Lethal Pelvic/Urogenital Organ Aplasia: A New Mouse Model of Sirenomelia

    OpenAIRE

    Suzuki, Kentaro; Adachi, Yasuha; Numata, Tomokazu; Nakada, Shoko; Yanagita, Motoko; Nakagata, Naomi; Evans, Sylvia M.; Graf, Daniel; Economides, Aris; Haraguchi, Ryuma; Moon, Anne M.; Yamada, Gen

    2012-01-01

    Sirenomelia, also known as mermaid syndrome, is a developmental malformation of the caudal body characterized by leg fusion and associated anomalies of pelvic/urogenital organs including bladder, kidney, rectum and external genitalia. Most affected infants are stillborn, and the few born alive rarely survive beyond the neonatal period. Despite the many clinical studies of sirenomelia in humans, little is known about the pathogenic developmental mechanisms that cause the complex array of pheno...

  14. Reduced BMP signaling results in hindlimb fusion with lethal pelvic/urogenital organ aplasia: a new mouse model of sirenomelia.

    Directory of Open Access Journals (Sweden)

    Kentaro Suzuki

    Full Text Available Sirenomelia, also known as mermaid syndrome, is a developmental malformation of the caudal body characterized by leg fusion and associated anomalies of pelvic/urogenital organs including bladder, kidney, rectum and external genitalia. Most affected infants are stillborn, and the few born alive rarely survive beyond the neonatal period. Despite the many clinical studies of sirenomelia in humans, little is known about the pathogenic developmental mechanisms that cause the complex array of phenotypes observed. Here, we provide new evidences that reduced BMP (Bone Morphogenetic Protein signaling disrupts caudal body formation in mice and phenocopies sirenomelia. Bmp4 is strongly expressed in the developing caudal body structures including the peri-cloacal region and hindlimb field. In order to address the function of Bmp4 in caudal body formation, we utilized a conditional Bmp4 mouse allele (Bmp4(flox/flox and the Isl1 (Islet1-Cre mouse line. Isl1-Cre is expressed in the peri-cloacal region and the developing hindimb field. Isl1Cre;Bmp4(flox/flox conditional mutant mice displayed sirenomelia phenotypes including hindlimb fusion and pelvic/urogenital organ dysgenesis. Genetic lineage analyses indicate that Isl1-expressing cells contribute to both the aPCM (anterior Peri-Cloacal Mesenchyme and the hindlimb bud. We show Bmp4 is essential for the aPCM formation independently with Shh signaling. Furthermore, we show Bmp4 is a major BMP ligand for caudal body formation as shown by compound genetic analyses of Bmp4 and Bmp7. Taken together, this study reveals coordinated development of caudal body structures including pelvic/urogenital organs and hindlimb orchestrated by BMP signaling in Isl1-expressing cells. Our study offers new insights into the pathogenesis of sirenomelia.

  15. 纤毛虫与养殖刺参的"腐皮综合症"%Ciliates and “cankered cutis disease” of Apostichopus japonicus

    Institute of Scientific and Technical Information of China (English)

    刘晓云; 范瑞青; 谭金山; 高澜

    2005-01-01

    @@ 近年伴随刺参(Apostichopus japonicus)养殖业的快速发展,病害问题日趋突出.2004年山东沿海多处养殖海参发病,有些地方海参的死亡率高达50%以上.许多专家对刺参的病因和病原进行了研究,将发生于2004年春季的养殖刺参爆发性疾病称之为"腐皮综合症"或"化皮病",并定性其为细菌性疾病.

  16. [Congenital toxoplasmosis: clinical manifestation, treatment and follow-up] [Article in Italian] • Il neonato con toxoplasmosi congenita: clinica, terapia e follow-up

    Directory of Open Access Journals (Sweden)

    Lina Bollani

    2014-01-01

    Full Text Available Toxoplamosis is a parasitic zoonosis which occurs worldwide, but is prevalent in Europe, South America and Africa. When infection occurs for the first time during pregnancy, mother to child transmission of the parasite can cause congenital toxoplasmosis. Rate of congenital infection ranges from less than 0.1 to approximately 1 per 1,000 live births. The risk of transmission depends on the gestational age at the time of maternal infection. A diagnosis of congenital toxoplasmosis is usually considered in infants who present: hydrocephalus, chorioretinitis, and intracranial calcifications, but this triade is very rare. Approximately 85% of the infants with congenital toxoplasmosis are clinically normal at birth; however, sequelae of infection may become apparent only months or even years later. Chorioretinitis is the main complication of congenital toxoplasmosis, late onset retinal lesions and relapse can appear many years after birth, but the overall ocular prognosis is satisfactory when infection is identified and treated accordingly. Fortunately, serious neonatal forms and severe neurological impairment have become rare, but prompt treatment of children with convulsions, abnormal muscle tone, hydrocephalus, may improve the prognosis and result in almost normal outcome. For infants who have congenital toxoplasmosis, treatment soon after birth for 1 year with pyrimetamine, sulfadiazine and leukoverin led to remarkable resolution of serious, active disease. A long follow-up is necessary to assess the long-term outcome of children and young adults with congenital toxoplasmosis, that is favourable for the majority of cases. Epidemiological surveillance needs to be improved in order to determine the effectiveness of prevention programs.Articoli Selezionati del “3° Convegno Pediatrico del Medio Campidano” · Guspini · 25 Maggio 2013Guest Editor: Roberto Antonucci

  17. 溃疡性皮肤结核误诊为Bowen病1例%A Case of Tuberculosis Cutis Ulcerosa Misdiagnosed Bowen's Disease

    Institute of Scientific and Technical Information of China (English)

    余念文; 胡友红; 袁丽容

    2007-01-01

    患者男,53岁.肛周起丘疹、溃疡伴疼痛4年余.在外院诊断为"鲍温病",经放射治疗未愈.检查肛周见一10.5 cm×7.0 cm的溃疡面,表面高低不平,有暗红色、鲜红色、苍白色肉芽组织,边缘潜行.胸部X线示双上肺结核.结核菌素试验阳性.病理检查诊断为溃疡性皮肤结核.

  18. Diagnóstico pré-natal da artrogripose múltipla congênita: relato de caso Prenatal diagnosis of arthrogryposis multiplex congenita: a case report

    OpenAIRE

    Carlos Augusto Alencar Júnior; Francisco Edson de Lucena Feitosa; Mac Gontei; Sammya Bezerra Maia; Dalgimar Beserra de Meneses

    1998-01-01

    A artrogripose múltipla congênita é caracterizada pela presença, ao nascimento, de múltiplas contraturas articulares. O diagnóstico pré-natal é difícil, existindo poucos relatos na literatura. Baseia-se, especialmente, na combinação de acinesia fetal, posição anormal dos membros, retardo de crescimento intra-uterino e polidrâmnio. Descrevemos um caso de artrogripose múltipla congênita diagnosticado pela ultra-sonografia no terceiro trimestre gestacional. Os principais achados foram a ausência...

  19. Tesis de la facultad de medicina: la cuti-reaccion de von pirquet y los alumnos de las escuelas publicas de bogotá

    OpenAIRE

    Sáenz Caycedo, Vicente

    2011-01-01

    En su trabajo comienza llamando la atención sobre la importancia diagnóstica de la reacción de Von Pirquet en la Tuberculosis. Explica luégo el proceso de la infección tuberculosa, habla de las toxinas del B. de Koch y de sus propiedades, especialmente de la Tuberculina, su acción y su acción fisiológica. Pasa luégo a hablar de la reacción de Von Pirquet, describe su historia y su técnica, consistente en practicar una pequeña escarificación en la piel previamentelimpiada con alcohol o éter y ...

  20. Treatment of patients with a congenital transversal vaginal septum or a partial aplasia of the vagina. The vaginal pull-through versus the push-through technique.

    NARCIS (Netherlands)

    Bijsterveldt, C.D. van; Willemsen, W.N.P.

    2009-01-01

    STUDY OBJECTIVE: The aim of this study is to describe the different modalities of congenital obstructing vaginal malformations and the evaluation of techniques to solve the problem. DESIGN: A retrospective study. SETTING: The University Hospital Nijmegen, the Netherlands. PARTICIPANTS: The medical r

  1. The study on the preparation of rhIL-6 and its effects on recovery of mice from radiation-induced hematopoietic aplasia

    International Nuclear Information System (INIS)

    The E coil highly expressing rhIL-6 constructed by our department was fermented and rhIL-6 products were extracted and purified. The specific activity of the purified rhIL-6 products reached 4.83 x 108 IU/mg. The rhIL-6 products were used to treat BALB/c mice injured by 60Co irradiation for six days (2 μg/big/each). The results showed that the bleeding time, coagulation time and prothrombin time of the rhIL-6 treatment group were significantly shorter than those of the control group (P<0.01), the platelet count and WBC increased by 130% and 165% in the treatment group as compared with the control, the numbers of CFU-Mix cultured in vitro and CFU-s in spleen were significantly higher than those in the control group (P<0.01). These results suggest that rhIL-6 exerts beneficial effects on the recovery of mice from radiation-induced injuries of hematopoietic stem/progenitor cells, and thus helps recovery from radiation injury of bone marrow and hematopoietic function. (17 refs., 4 figs., 5 tabs.)

  2. Autologous cell therapy as a new approach to treatment of radiation-induced bone marrow aplasia: preliminary study in a baboon model

    Energy Technology Data Exchange (ETDEWEB)

    Herodin, F.; Drouet, M. [Radiohematology Unit, Centre de Recherches du Service de Sante des Armees, La Tronche CEDEX (France)

    2002-07-01

    The sparing of viable hematopoietic stem and progenitor cells located in underexposed bone marrow territories associated with the relative radioresistance of certain stem cell populations is the rationale for autologous cell therapy consisting of ex vivo expansion of residual cells after collection postirradiation. The feasibility of this treatment mainly depends on time constraints and hematopoietic cell threshold. We showed in this study that in the absence of early-acting mobilizing agent administration, subliminar amounts of CD34{sup +} cells can be collected (1 x 10{sup 6} CD34{sup +} cells/100 mL bone marrow or for 1 L apheresis) from 6-Gy {gamma} globally irradiated baboons. Residual CD34{sup +} cells were successfully expanded in serum-free medium in the presence of antiapoptotic cytokine combination (stem cell factor + FLT-3 ligand + thrombopoietin + interleukin 3, 50 ng/mL each, i.e., 4F): K{sub CD34{sup +}} = x2.8 and x13.7 (n=2). Moreover, we demonstrated the short-term neutrophil engraftment potential of a low-size mixed expanded graft (1.5 x 10{sup 6} final CD34{sup +}cells/kg) issued from the coculture of unirradiated (20%) and 2.5-Gy in vitro irradiated (80%) CD34{sup +} cells on an allogeneic stromal cell layer in the presence of 4F. Further preclinical research needs to be performed to clearly establish this therapeutic approach that could be optimized by the early administration of antiapoptotic cytokines. (author)

  3. Persistent γδ T large granular lymphocytosis in a patient with refractory pure red cell aplasia, celiac disease, and chronic hepatitis B infection

    Science.gov (United States)

    Sreedharanunni, S; Sachdeva, MUS; Prakash, G; Das, R

    2016-01-01

    The disorders of large granular lymphocytes include reactive proliferation as well as indolent or aggressive neoplasms of cytotoxic T cells, γδ T cells, and natural killer (NK) cells. They are associated with autoimmune and infectious disorders and have varied immunophenotypic features. We report a case, which highlights this complex association of autoimmune and infectious diseases with large granular lymphocytosis, the overlapping spectrum of large granular lymphocyte leukemias, and γδ T cell lymphomas as well as the difficulties in the diagnosis and management of these indolent T cell lymphomas in the usual clinical settings. PMID:26515990

  4. Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep

    Science.gov (United States)

    Suárez-Vega, Aroa; Gutiérrez-Gil, Beatriz; Benavides, Julio; Perez, Valentín; Tosser-Klopp, Gwenola; Klopp, Christophe; Keennel, Stephen J.; Arranz, Juan José

    2015-01-01

    In this study, we demonstrate the use of a genome-wide association mapping together with RNA-seq in a reduced number of samples, as an efficient approach to detect the causal mutation for a Mendelian disease. Junctional epidermolysis bullosa is a recessive genodermatosis that manifests with neonatal mechanical fragility of the skin, blistering confined to the lamina lucida of the basement membrane and severe alteration of the hemidesmosomal junctions. In Spanish Churra sheep, junctional epidermolysis bullosa (JEB) has been detected in two commercial flocks. The JEB locus was mapped to Ovis aries chromosome 11 by GWAS and subsequently fine-mapped to an 868-kb homozygous segment using the identical-by-descent method. The ITGB4, which is located within this region, was identified as the best positional and functional candidate gene. The RNA-seq variant analysis enabled us to discover a 4-bp deletion within exon 33 of the ITGB4 gene (c.4412_4415del). The c.4412_4415del mutation causes a frameshift resulting in a premature stop codon at position 1472 of the integrin β4 protein. A functional analysis of this deletion revealed decreased levels of mRNA in JEB skin samples and the absence of integrin β4 labeling in immunohistochemical assays. Genotyping of c.4412_4415del showed perfect concordance with the recessive mode of the disease phenotype. Selection against this causal mutation will now be used to solve the problem of JEB in flocks of Churra sheep. Furthermore, the identification of the ITGB4 mutation means that affected sheep can be used as a large mammal animal model for the human form of epidermolysis bullosa with aplasia cutis. Our approach evidences that RNA-seq offers cost-effective alternative to identify variants in the species in which high resolution exome-sequencing is not straightforward. PMID:25955497

  5. Investigation of the Genetics of Hematologic Diseases

    Science.gov (United States)

    2016-03-25

    Bone Marrow Failure Syndromes; Erythrocyte Disorder; Leukocyte Disorder; Hemostasis; Blood Coagulation Disorder; Sickle Cell Disease; Dyskeratosis Congenita; Diamond-Blackfan Anemia; Congenital Thrombocytopenia; Severe Congenital Neutropenia; Fanconi Anemia

  6. Disease: H00904 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00904 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Urban...-Rifkin-Davis syndrome Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban...SH: C567716 OMIM: 613177 PMID:19836010 (description, gene) Urban Z, Hucthagowder V, Schurmann N, Todorovic V...colorectal cancer. Genes Dev 16:2264-73 (2002) PMID:21563328 (description, gene) Loeys B, De Paepe A, Urban Z EFEMP2-Related Cutis Laxa (1993) ...

  7. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    DEFF Research Database (Denmark)

    Terhal, Paulien A; Nievelstein, Rutger Jan A J; Verver, Eva J J;

    2015-01-01

    -like dysplasia (n = 2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38......Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and...... genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance...

  8. Medullary aplasia secondary to an irradiation accident: Treatment options and evolution of the concepts; L'aplasie medullaire secondaire a un accident d'irradiation : options therapeutiques et evolution des concepts

    Energy Technology Data Exchange (ETDEWEB)

    De Revel, T. [Service d' Hematologie, HIA Percy, et Service de Neurovirologie, Commissariat a l' Energie Atomique, Fontenay-aux-Roses (France); Fagot, T.; Souleau, B. [Service d' Hematologie, HIA Percy, Clamart (France); Dormont, D. [Service de Neurovirologie, Commissariat a l' Energie Atomique, Fontenay-aux-Roses (France); Nedellec, G. [Service d' Hematologie, HIA Percy, Clamart (France)

    2002-07-01

    Bone marrow grafting following accidental irradiation exposure should be viewed in the perspective of a severe myeloablative syndrome linked to high medullary damage for a dose range higher than 6-8 Gy, resulting in very late or no recovery. Prognosis will depend on the presence or absence of radio-combined injuries, the toxicity of the transplant procedure, and the risk of rejection induced by insufficient percritical immunosuppression. It is in this context that new cell therapy modalities, which combine enhanced peripheral hematopoietic cell engraftment and high immunosuppressive conditioning regimen with low extrahematological toxicity, inducing early and stable mixed lymphomyeloid chimerism with minimal morbidity, can be considered. Such an approach is being evaluated in the treatment of patients with hematological malignancies at high risk of transplant-related mortality using conventional bone marrow methods. (author)

  9. Surface alloying of Cu with Ti by double glow discharge process

    Institute of Scientific and Technical Information of China (English)

    袁庆龙; 池成忠; 苏永安; 徐重; 唐宾

    2004-01-01

    The surface of pure copper alloyed with Ti using double glow discharge process was investigated. The morphology, structure and forming mechanism of the Cu-Ti alloying layer were analyzed. The microhardness and wear resistance of the Cu-Ti alloying layer were measured, and compared with those of pure copper. The results indicate that the surface of copper activated by Ar and Ti ions bombardment is favorable to absorption and diffusion of Ti element. In current experimental temperature, as the Ti content increases, the liquid phase occurs between the deposited layer and diffused layer, which makes the Ti ions and atoms easy to dissolve and the thickness of Cu-Ti alloying layer increase rapidly. After cooling, the structure of the alloying layer is composed of CuTi, Cu4 Ti and Cu(Ti) solid solution. The solid solution strengthening and precipitation strengthening effects of Ti result in high surface hardness and wear resistance.

  10. Disease: H00677 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00677 Aplasia of lacrimal and salivary glands Aplasia of lacrimal and salivary glands (ALSG) is ... 20 PMID:17213838 (description, gene) Entesarian M, Dahl qvist J, Shashi V, Stanley CS, Falahat B, Reardon W ... , Dahl ... N FGF10 missense mutations in aplasia of lacrimal ... ahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl ... N Mutations in the gene encoding fibroblast growth ...

  11. Disease: H00705 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in child...hood. Two additional forms of myotonia congenita have been described: myotonia levi

  12. Disease: H00683 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available 51 (description) Al Hawsawi K, Al Aboud K, Alfadley A, Al Aboud D Anonychia congenita totalis: a case report and review of the litera...ture. Int J Dermatol 41:397-9 (2002) PMID:17186469 (gene

  13. Artrogripozis multipleks konjenitalı bir hastada skolyoz cerrahisi için anestezi

    Directory of Open Access Journals (Sweden)

    Ahmet Yılmaz

    2013-03-01

    Full Text Available Arthrogryposis multiplex congenita is a disease which ischaracterized by congenital multiple joint contractures.This disease with its risks of difficult airway, difficult intravenousaccess and malign hypethermia attack is a challengingcondition for anesthesiologists. In this paper, wereport our anesthetic management experience for scoliosissurgery in a case with arthrogryposis multiplex congenita.J Clin Exp Invest 2013; 4 (1: 113-115Key words: Anesthesia, general; Arthrogryposis; Scoliosis

  14. CONGENITAL ABSENCE OF THE VAGINA - RESULTS OF CONSERVATIVE TREATMENT

    NARCIS (Netherlands)

    LAPPOHN, RE

    1995-01-01

    Objective: To assess the efficacy of a combination of Frank's mold therapy with intercourse as a treatment for congenital vaginal aplasia. Study design: From 1973-1993, thirty-three patients with congenital aplasia of vagina and uterus were seen by one gynecologist. Patients with a partner were inst

  15. Nicolau Syndrome After Diclofenac-Thiocolchicoside Intramuscular Injection

    OpenAIRE

    Kurtipek, Gülcan Saylam; Akyürek, Fatma Tunçez; Ataseven, Arzu

    2014-01-01

    Nicolau syndrome (NS), also known as embolia cutis medicomentosa and livedo-like dermatitis, is a rare complication of an intramuscular injection characterized by severe pain, skin discoloration, and varying levels of tissue necrosis at the site of the injection.

  16. Hernier som medicinsk sygdom

    DEFF Research Database (Denmark)

    Burcharth, J.; Rosenberg, J.

    2008-01-01

    include patients with Ehlers-Danlos, Marfans syndrome, osteogenesis imperfecta, cutis laxa, and patients with abdominal aortic aneurysms, colonic diverticula or stress urinary incontinence. Looking ahead, the perspective may be individualization of the operative technique for patients with a hernia...

  17. Genetics Home Reference: Menkes syndrome

    Science.gov (United States)

    ... In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa ) ... bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. ...

  18. Disease: H00906 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome Macrocephaly, alopecia, ... ival hypertrophy, retrognathia with abnormal skull morphology , and severe scoliosis. Homozygous mutations in RIN ...

  19. Disease: H00557 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat 32:445-55 (2011) ...

  20. A Study of Plazomicin Compared With Colistin in Patients With Infection Due to Carbapenem-Resistant Enterobacteriaceae (CRE)

    Science.gov (United States)

    2016-04-13

    Bloodstream Infections (BSI) Due to CRE; Hospital-Acquired Bacterial Pneumonia (HABP) Due to CRE; Ventilator-Associated Bacterial Pneumonia (VABP) Due to CRE; Complicated Urinary Tract Infection (cUTI) Due to CRE; Acute Pyelonephritis (AP) Due to CRE

  1. Congenital nasal pyriform aperture stenosis as a cause of respiratory distress in newborns: presentation diagnosed by menas of CT; Estenosis congenita de la abertura piriforme nasal como causa de distress respiratorio en el recien nacido: aportacion de cuatro casos diagnosticados mediante TC

    Energy Technology Data Exchange (ETDEWEB)

    Wichoff, A.; Perez-Candela, V.; Romera, C.; Lopez-Morales, L. [Hospital Universitario Materno-Infantil de Canarias. Las Palmas de Gran Canarias. (Spain)

    2002-07-01

    Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of newborn airway obstruction. It can be clinically indistinguishable from choanal atresia, which is much more frequent. CT confirms the diagnosis by revealing in detail the anatomical alterations underlying this anomaly. These might or might not occur in association with other alterations. We present 4 cases of CNPAS, all of which presented respiratory distress and clinical symptoms similar to those of choanal atresia in newborn children. The premature diagnosis and a conventional treatment of tube placement in order to keep the airway open, until the pyriform aperture grows large enough to permit normal breathing, resulted in recovery of the patients. (Author) 12 refs.

  2. Therapeutic approaches of hematopoietic syndrome after serious accidental global irradiation. Ex vivo expansion interest of hematopoietic cells; Approches therapeutiques du syndrome hematopoietique apres irradiation globale accidentelle grave. Interet de l`expansion ex vivo des cellules hematopoietiques

    Energy Technology Data Exchange (ETDEWEB)

    Thierry, D.

    1994-12-31

    Aplasia is one of the main syndrome, appearing after one global accidental irradiation by one ionizing radiation source. The hematopoietic syndrome is characterized by a peripheric blood cell number fall; the cell marrow is reduced too.

  3. Therapeutic approaches of hematopoietic syndrome after serious accidental global irradiation. Ex vivo expansion interest of hematopoietic cells

    International Nuclear Information System (INIS)

    Aplasia is one of the main syndrome, appearing after one global accidental irradiation by one ionizing radiation source. The hematopoietic syndrome is characterized by a peripheric blood cell number fall; the cell marrow is reduced too

  4. Disease: H00635 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00635 Aniridia Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia ... Genet 33:44-8 (2012) PMID:21850189 (gene) Zhang X, Wang ... P, Li S, Xiao X, Guo X, Zhang Q Mutation spectrum ...

  5. NEOPLASMS

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    920632 Phenotypic analysis of T lympho-cytes from the patient with thymoma com-plicated with pure red cell aplasia. LIUBai(刘白), et al. Beijing Med Univ. Chin J Hema-tol 1992; 13(5): 244-246. The thymocytes in thymoma tissue and mono-nuclear cells in peripheral blood and bone marrowwere obtained from a patient with thymomacomplicated with pure red cell aplasia. The

  6. Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2008-01-01

    Full Text Available The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the Baller-Gerold syndrome. Genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases.

  7. Disease: H00788 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available he congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr 162:863...ourenco CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET Genomic instability in Hoyeraal-Hreidarsson syndrome. Pediatr Blood Cancer 54:779-80 (2010) ...

  8. Gender differences in adult congenital heart disease

    NARCIS (Netherlands)

    P. Engelfriet; B.J.M. Mulder

    2009-01-01

    Objective. To assess gender differences in morbidity, mortality and patient management among adults born with a heart defect. Methods and results. The database of the European Heart Survey on adult congenital heart disease was explored. This contains data on 4110 patients with one of eight congenita

  9. Disease: H00784 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available scription, gene) Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad...asit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W Congenita

  10. Total hip arthroplasty in a patient with arthrogryphosis and an ipsilateral above knee amputation.

    LENUS (Irish Health Repository)

    Leonard, Michael

    2010-10-01

    The authors present the case of a young man with arthrogryphosis multiplex congenita and an above knee amputation who underwent an ipsilateral total hip replacement. The unique aspects of the case and technical difficulties are highlighted. Follow-up at five years revealed an excellent clinical and radiological outcome.

  11. Disease: H00790 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00790 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK syndrome K ... 86:605-7 (2011) PMID:20226437 (description, gene) Dahl qvist J, Klar J, Tiwari N, Schuster J, Torma H, Bad ... zen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl ... N A single-nucleotide deletion in the POMP 5' UTR ...

  12. On the thermal stability of the copper-titanium-zirconium phosphate solid solution series: CuTi2-xZrx(PO4)3 (0 < x < 2) under air

    DEFF Research Database (Denmark)

    Warner, Terence Edwin; Skou, Eivind Morten

    2011-01-01

    conditions varies progressively and enormously across this series, with the passivity dependent upon the Ti/Zr ratio; CuTi2(PO4)3 being the least reactive under these conditions. The results of the thermogravimetric analyses in artificial air (PO2 = 0.2 bar) corroborate with the above, and reveal in all...

  13. Ceramic and metal-ceramic nanostructures obtained by reactive ball milling

    OpenAIRE

    Secondi, J; R. Yavari

    1993-01-01

    We review ceramic and metal-ceramic nanostructures obtained by ball milling. We then report on the formation of titanium nitride by ball milling elemental titanium powder under nitrogen gas and on TiN-copper nanocomposites produced by ball milling a CuTi alloy under N2 gas.

  14. Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature

    OpenAIRE

    Dueñas-Arias Jesus E; Arámbula-Meraz Eliakym; Frías-Castro Luis O; Ramos-Payán Rosalio; Quibrera-Matienzo Jose A; Luque-Ortega Fred; Aguilar-Medina E Maribel

    2009-01-01

    Abstract Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously ...

  15. Evolution process of the synthesis of TiC in the Cu-Ti-C system

    International Nuclear Information System (INIS)

    The evolution process of TiC formation in the 20 wt.% Cu-Ti-C powder mixtures was studied by using differential thermal analysis (DTA), X-ray diffraction (XRD) and scanning electron microscopy (SEM). The TixCuy compounds (Ti2Cu, TiCu, Ti3Cu4 and TiCu4) formed initially via solid-state diffusion reactions between Cu and Ti particles; and then Ti2Cu and TiCu can form a Cu-Ti eutectic liquids at about 1233 K. The unreacted Ti and C particles dissolved into the Cu-Ti liquids and led to the formation of Cu-Ti-C ternary liquids; subsequently, TiC particulates precipitated out of the saturated liquids. At the same time, also the formation of Ti2Cu occurred at the interface between the Cu-Ti liquids and the unreacted Ti particles. As the temperature increased further, the Ti2Cu melted and more Cu-Ti liquids formed; and then C particles continuously dissolved into the Cu-Ti-C liquids and TiC particulates gradually precipitated out of the saturated liquids

  16. Recommendations for the empirical treatment of complicated urinary tract infections using surveillance data on antimicrobial resistance in the Netherlands.

    Directory of Open Access Journals (Sweden)

    Maike Koningstein

    Full Text Available Complicated urinary tract infections (c-UTIs are among the most common nosocomial infections and a substantial part of the antimicrobial agents used in hospitals is for the treatment of c-UTIs. Data from surveillance can be used to guide the empirical treatment choices of clinicians when treating c-UTIs. We therefore used nation-wide surveillance data to evaluate antimicrobial coverage of agents for the treatment of c-UTI in the Netherlands.We included the first isolate per patient of urine samples of hospitalised patients collected by the Infectious Disease Surveillance Information System for Antibiotic Resistance (ISIS-AR in 2012, and determined the probability of inadequate coverage for antimicrobial agents based on species distribution and susceptibility. Analyses were repeated for various patient groups and hospital settings.The most prevalent bacteria in 27,922 isolates of 23,357 patients were Escherichia coli (47%, Enterococcus spp. (14%, Proteus mirabilis (8%, and Klebsiella pneumoniae (7%. For all species combined, the probability of inadequate coverage was <5% for amoxicillin or amoxicillin-clavulanic acid combined with gentamicin and the carbapenems. When including gram-negative bacteria only, the probability of inadequate coverage was 4.0%, 2.7%, 2.3% and 1.7%, respectively, for amoxicillin, amoxicillin-clavulanic acid, a second or a third generation cephalosporin in combination with gentamicin, and the carbapenems (0.4%. There were only small variations in results among different patient groups and hospital settings.When excluding Enterococcus spp., considered as less virulent, and the carbapenems, considered as last-resort drugs, empirical treatment for c-UTI with the best chance of adequate coverage are one of the studied beta-lactam-gentamicin combinations. This study demonstrates the applicability of routine surveillance data for up-to-date clinical practice guidelines on empirical antimicrobial therapy, essential in patient

  17. Study of irradiation-induced amorphization in intermetallic compounds

    International Nuclear Information System (INIS)

    Irradiation-induced amorphization was studied in situ in the high voltage electron microscope interfaced to a tandem accelerator. Variation of elastic properties during irradiation was studied with Brillouin scattering spectroscopy, and its relation to amorphization were explored. Four important topics were investigated. (1) The temperature dependence of the critical dose for amorphization and its correlation with chemical disordering were studied in CuTi and Zr3Al with 1-MeV electron irradiation from 10 to 295 K. Similar temperature dependence was observed in CuTi between the critical dose for amorphization and the chemical disordering rate. Chemical disordering is a major driving force for amorphization. The critical dose for amorphization of Zr3Al was twenty times larger than that of CuTi and attributed to the differences in point defect mobility and ordering energy. (2) Projectile mass dependence of amorphization behavior was studied in CuTi irradiated with Ne+,Kr+,Xe+ions. The dose dependence of the amorphous volume fraction indicated that with increasing mass from Ne+ to Kr+ amorphization kinetics changes from the cascade overlap to the direct-impact amorphization. In relation to the kinetics variation, the critical temperature increased with increasing projectile mass and explained in terms of the thermal stability of the primary damage. (3) Effects of simultaneous and sequential irradiation with Kr+ and electrons were studied in CuTi and Zr3Al. Both additive and retardation effects were observed depending on temperature and the electron-to-Kri dose rate ratio and explained as the interaction between point defects and cascade damages. (4) Study of elastic properties during Kr+ irradiation revealed that in FeTi, a large dilation and shear modulus softening accompanied with chemical disordering preceded amorphization, but not observed in NiAl

  18. MR tomography of bone marrow changes after high-dose chemotherapy and autologous peripheral stem cell transplantation

    International Nuclear Information System (INIS)

    Purpose: Evaluation of MR standard imaging and short time inversion recovery (STIR) imaging to assess changes in red bone marrow cellularity after high-dose chemotherapy (HDC) and peripheral blood stem cells transplantation (PBSCT). Results: STIR sequences demonstrated marked changes in signal intensity not only until the aplasia occurred but also during bone marrow repopulation. An increased signal intensity was observed after HDC in 13/15 patients (87%), followed by a decrease in signal intensity immediately after aplasia in 14/15 patients (93%). Signal intensity further changed parallel to marrow engraftment in 11/15 patients (73%). T2-TSE only showed clear changes during repopulation in 8/15 patients (53%). The individual course of the signal in T1-TSE was markedly inhomogeneous. Conclusions: STIR sequences show bone marrow edema during aplasia and marrow cellularity during reconstitution and are suitable for characterisation of red bone marrow after HDC and autologous PBSCT. (orig.)

  19. Narrow, duplicated internal auditory canal

    Energy Technology Data Exchange (ETDEWEB)

    Ferreira, T. [Servico de Neurorradiologia, Hospital Garcia de Orta, Avenida Torrado da Silva, 2801-951, Almada (Portugal); Shayestehfar, B. [Department of Radiology, UCLA Oliveview School of Medicine, Los Angeles, California (United States); Lufkin, R. [Department of Radiology, UCLA School of Medicine, Los Angeles, California (United States)

    2003-05-01

    A narrow internal auditory canal (IAC) constitutes a relative contraindication to cochlear implantation because it is associated with aplasia or hypoplasia of the vestibulocochlear nerve or its cochlear branch. We report an unusual case of a narrow, duplicated IAC, divided by a bony septum into a superior relatively large portion and an inferior stenotic portion, in which we could identify only the facial nerve. This case adds support to the association between a narrow IAC and aplasia or hypoplasia of the vestibulocochlear nerve. The normal facial nerve argues against the hypothesis that the narrow IAC is the result of a primary bony defect which inhibits the growth of the vestibulocochlear nerve. (orig.)

  20. Radiographically visualized skeletal changes associated with mucopolysaccharidosis VI in cats

    International Nuclear Information System (INIS)

    The radiographic skeletal form and structure of all cats with mucopolysaccharidosis VI is described. Common manifestations included epiphyseal dysplasia, generalized osteoporosis, abnormal nasal turbinate development, his subluxation, impaired development of skeletal growth, pectus excavatum, hyoid hypoplasia, aplasia, hypoplasia and fragmentation or abnormal ossification of the dens, and aplasia or hypoplasia of frontal and sphenoid sinuses. The skeletal measurements of two affected cats were compared with those of normal, sex-matched littermates, and the measurements of two affected female cats were compared with those of a normal male littermate

  1. Retrospective observational study to assess the clinical management and outcomes of hospitalised patients with complicated urinary tract infection in countries with high prevalence of multidrug resistant Gram-negative bacteria (RESCUING)

    Science.gov (United States)

    Shaw, Evelyn; Addy, Ibironke; Stoddart, Margaret; Vank, Christiane; Grier, Sally; Wiegand, Irith; Leibovici, Leonard; Eliakim-Raz, Noa; Vallejo-Torres, Laura; Morris, Stephen; MacGowan, Alasdair; Carratalà, Jordi; Pujol, Miquel

    2016-01-01

    Introduction The emergence of multidrug resistant (MDR) Gram-negative bacteria (GNB), including carbapenemase-producing strains, has become a major therapeutic challenge. These MDR isolates are often involved in complicated urinary tract infection (cUTI), and are associated with poor clinical outcomes. The study has been designed to gain insight into the epidemiology, clinical management, outcome and healthcare cost of patients with cUTI, especially in countries with high prevalence of MDR GNB. Methods and analysis This multinational and multicentre observational, retrospective study will identify cases from 1 January 2013 to 31 December 2014 in order to collect data on patients with cUTI as a cause of hospital admission, and patients who develop cUTI during their hospital stay. The primary end point will be treatment failure defined as the presence of any of the following criteria: (1) signs or symptoms of cUTI present at diagnosis that have not improved by days 5–7 with appropriate antibiotic therapy, (2) new cUTI-related symptoms that have developed within 30 days of diagnosis, (3) urine culture taken within 30 days of diagnosis, either during or after completion of therapy, that grows ≥104 colony-forming unit/mL of the original pathogen and (4) death irrespective of cause within 30 days of the cUTI diagnosis. Sample size 1000 patients afford a power of 0.83 (α=0.05) to detect an absolute difference of 10% in the treatment failure rate between MDR bacteria and other pathogens. This should allow for the introduction of about 20 independent risk factors (or their interaction) in a logistic regression model looking at risk factors for failure. Ethics and dissemination Approval will be sought from all relevant Research Ethics Committees. Publication of this study will be considered as a joint publication by the participating investigator leads, and will follow the recommendations of the International Committee of Medical Journal Editors (ICMJE). Trial

  2. Disease: H01286 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01286 Microtia hearing impairment and cleft palate (MHICP) Microtia is a congenita...OXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate. Developmental disor...ng loss. Syndromic form of microtia occur in conjunction with other abnormalities. The most common associated malformation is the cle...ft palate. It has been reported that a mutation in the H

  3. Caratterizzazione microbiologica ed epidemiologica del microbiota del cavo orale mediante metodiche colturali e molecolari

    OpenAIRE

    Paolucci, Michela

    2014-01-01

    La ricerca si è focalizzata su due degli aspetti di interesse odontoiatrico più diffusi: la carie dentaria e la parodontite cronica. Il problema della carie dentaria è stato studiato in una popolazione di 39 soggetti affetti da cardiopatia congenita in cui la scarsa igiene orale è fattore di rischio per problematiche di salute generale e soprattutto per lo sviluppo di endocardite infettiva. I dati osservati e confrontati con quelli di un omogeneo gruppo di controllo dimostrano che nella denta...

  4. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

    OpenAIRE

    Mortier, Geert; Weis, Mary Ann; Nuytinck, Lieve; King, Lily M; Wilkin, Douglas J.; De Paepe, Anne; Lachman, Ralph S.; Rimoin, David L; Eyre, David R.; Cohn, Daniel H.

    2000-01-01

    Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). To identify the underlying defect in seven cases with this group of conditions, we used the combined strategy of cartilage protein analysis and COL2A1 mutation analysis. Overmodified type II collagen and the presence of type I collagen was found in the cartilage matrix of all seven cases. Five patients w...

  5. La diagnostica ecografica nello studio della displasia dell'anca del cane

    OpenAIRE

    Manfredi, Sabrina

    2012-01-01

    L’ultrasonografia è una metodica di diagnostica per immagini routinariamente utilizzata sia in medicina umana che in medicina veterinaria. Da numerosi anni le applicazioni sono innumerevoli sia in campo umano che veterinario e, in particolare nell’imaging muscolo-scheletrico, rappresenta la tecnica che si sta sviluppando più rapidamente. In medicina umana, la displasia congenita dell’anca compare in un modesto ma significativo numero di bambini, e l’intervallo di tempo per trattare la pato...

  6. 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.

  7. Confirmed case of Zika virus congenital infection, Spain, March 2016.

    Science.gov (United States)

    Perez, Sonia; Tato, Ruben; Cabrera, Jorge Julio; Lopez, Alberto; Robles, Olga; Paz, Eugenio; Coira, Amparo; Sanchez-Seco, Maria Paz; Vazquez, Ana; Carballo, Raquel; Quintas, Carlos; Pousa, Anxela

    2016-06-16

    We describe Zika virus (ZIKV) vertical transmission in an imported case in Spain, in a 17-week pregnant woman. ZIKV IgG, IgM and RNA were detected in serum in week 17. At 19 weeks, ultrasound scan revealed fetal malformations and ZIKV was detected in the amniotic fluid. Pregnancy was terminated at week 21; autopsy of the fetus revealed bilateral hydrocephalus, brain microcalcifications and arthrogryposis multiplex congenita. ZIKV was detected in the umbilical cord and brain tissue. PMID:27336620

  8. グリセロールキナーゼ欠損症を伴った先天性副腎低形成の1症例

    OpenAIRE

    村上, 智彦; 上辻, 秀和; 中野, 智巳; 金, 一; 西久保, 敏也; 木里, 頼子; 石川, 直子; 桑原, 勲; 坂上, 哲也; 湧井, 敬子; 福嶋, 義光

    2003-01-01

    X-linked adrenal hypoplasia congenita (AHC) is characterized by primaryadrenal insufficiency caused by deletion or mutation of the DAX-1 gene and frequentassociation with hypogonadotropic hypogonadism (HHG).Furthermore, this form can occur as a part of Xp21 contiguous gene syndome togetherwith glycerol kinase deficiency (GKD) and Duchenne muscular dystrophy.We report a 4-year-old boy with X-linked AHC with GKD. He presented a generalizedhyperpigmentation at birth and was admitted to our hospi...

  9. Mutations in NYX of individuals with high myopia, but without night blindness

    OpenAIRE

    Zhang, Qingjiong; Xiao, Xueshan; Li, Shiqiang; Jia, Xiaoyun; Yang, Zhikuan; Huang, Shizhou; Caruso, Rafael C.; Guan, Tianqin; Sergeev, Yuri; Guo, Xiangming; Hejtmancik, J. Fielding

    2007-01-01

    Purpose High myopia is a common genetic variant that severely affects vision. Genes responsible for myopia without linked additional functional defects have not been identified. Mutations in the nyctalopin gene (NYX) located at Xp11.4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1. This study was designed to test the possibility that mutations in the NYX gene might cause high myopia without congenita...

  10. Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

    Directory of Open Access Journals (Sweden)

    Sylvio Saraiva

    1960-09-01

    Full Text Available The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita, congenital acute anterior poliomyelitis, anthro-griposis multiplex, von Gierke's disease, central core disease, chronical polymyositis and dermatomyositis, thyrotoxic myopathy and menopausal dys- trophy. The importance of muscle biopsy in the differential diagnosis is emphasized.

  11. Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs

    OpenAIRE

    Desaphy, Jean-François; Carbonara, Roberta; Costanza, Teresa; Conte Camerino, Diana

    2014-01-01

    Although the sodium channel blocker mexiletine is considered the first-line drug in myotonia, some patients experiment adverse effects, while others do not gain any benefit. Other antimyotonic drugs are thus needed to offer mexiletine alternatives. In the present study, we used a previously-validated rat model of myotonia congenita to compare six marketed sodium channel blockers to mexiletine. Myotonia was induced in the rat by injection of anthracen-9-carboxylic acid, a muscle chloride chann...

  12. INFEZIONI VIRALI CONGENITE, PERINATALI E NEONATALI VIRAL INFECTIONS OF THE FETUS AND NEWBORN INFANT

    OpenAIRE

    Tremolada, Sara; Delbue, Serena; Ferrante, Pasquale

    2008-01-01

    Alcuni virus possono essere trasmessi verticalmente da madre a figlio in seguito allo sviluppo, da parte della madre, di un’infezione primaria, ricorrente o cronica. La trasmissione materno-fetale dei virus, che può avvenire in utero (infezione congenita), durante il travaglio del parto (infezione perinatale), oppure attraverso l’allattamento (infezione postnatale), può causare aborto spontaneo, morte fetale, ritardo di crescita intrauterino, anomalie congenite e patologie neonatali o postnat...

  13. Spontaneous Perforation of Pyometra

    OpenAIRE

    Begüm Yildizhan; Esra Uyar; Alper Şişmanoğlu; Gülfem Güllüoğlu; Kavak, Zehra N.

    2006-01-01

    Pyometra is the accumulation of purulent material in the uterine cavity. Its reported incidence is 0.01–0.5% in gynecologic patients; however, as far as elderly patients are concerned, its incidence is 13.6% [3]. The most common cause of pyometra is malignant diseases of genital tract and the consequences of their treatment (radiotherapy). Other causes are benign tumors like leiomyoma, endometrial polyps, senile cervicitis, cervical occlusion after surgery, puerperal infections, and congenita...

  14. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

    OpenAIRE

    Meyer-Kleine, C; Steinmeyer, K; Ricker, K; Jentsch, T J; Koch, M C

    1995-01-01

    Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane. Recently, these two phenotypes have been associated with mutations in the major muscle chloride channel gene CLCN1 on human chromosome 7q35. We have systematically screened the open reading frame of the CLCN1 gene for mutations by SSC analysis (SSCA) in a panel of 24 fam...

  15. DKC1 overexpression associated with prostate cancer progression

    OpenAIRE

    Sieron, P; Hader, C; Hatina, J; Engers, R; Wlazlinski, A; Müller, M.; Schulz, W A

    2009-01-01

    Background: Dyskerin encoded by the DKC1 gene is a predominantly nucleolar protein essential for the formation of pseudouridine in RNA and the telomerase RNA subunit hTR. Inherited mutations inactivating dyskerin cause dyskeratosis congenita, a syndrome with progeroid features characterised by skin defects and haematopoiesis failure, as well as cancer susceptibility. In this study, we report DKC1 overexpression in prostate cancers. Methods: Expression of DKC1 was measured by quantitative RT–P...

  16. Cleidocranial dysostosis: a report on two familial cases

    Directory of Open Access Journals (Sweden)

    Carlos Guilherme Gaelzer Porciuncula

    2013-12-01

    Full Text Available Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

  17. Bilateral ectrodactyly and spinal deformation in a mixed-breed dog

    OpenAIRE

    Carvallo, Francisco R.; Domínguez, Antonio S.; Morales, Pamela C.

    2011-01-01

    A 3-year-old, female mixed-breed dog had malformations of both thoracic limbs and the vertebral column. Radiographs of the forelimbs showed bilateral development of 2 digits and aplasia of 3 carpal bones. Kyphosis, scoliosis, and deformed vertebrae were present in the thoracolumbar vertebral column.

  18. Ectrodactyly/split hand feet malformation

    OpenAIRE

    Jindal Geetanjali; Parmar Veena; Gupta Vipul

    2009-01-01

    Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

  19. Genitourinary dysplasia in a cat

    International Nuclear Information System (INIS)

    A six-month-old kitten had congenital urethral sphincter mechanism incompetence due to urethral hypoplasia and associated uterine hypoplasia and vaginal aplasia. Diagnosis was based on radiographic examination, surgical exploration and histological examination of the lower urinary tract. Surgical correction resulted in a marked clinical improvement. The cat became fully continent following treatment with phenylpropanolamine

  20. The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field

    DEFF Research Database (Denmark)

    Mølsted, Kirsten; Boers, Maria; Kjaer, Inger

    2010-01-01

    measure the cranial base angles in individuals with VCFS and, if possible, to discover the developmental field that may be involved in the condition. The study included 33 patients with VCFS from the Copenhagen Cleft Palate Center, Denmark. The genotype was confirmed by fluorescence in situ hybridization...... aplasia, hypothyroidism, and posterior brain abnormality), suggest involvement of a specific developmental field....

  1. How bio-questionable are the different recombinant human erythropoietin copy products in Thailand?

    NARCIS (Netherlands)

    Halim, Liem Andhyk; Brinks, Vera; Jiskoot, Wim; Romeijn, Stefan; Praditpornsilpa, Kearkiat; Assawamakin, Anunchai; Schellekens, Huub

    2014-01-01

    PURPOSE: The high prevalence of pure red cell aplasia in Thailand has been associated with the sharp increase in number of recombinant human erythropoietin (rhEPO) copy products, based on a classical generic regulatory pathway, which have entered the market. This study aims to assess the quality of

  2. Bacterial flora of the sigmoid neovagina

    OpenAIRE

    Toolenaar, T.A.; Freundt, Ingrid; Wagenvoort, J H; Huikeshoven, Frans; Vogel, M.; Jeekel, Hans; Drogendijk, A c

    1993-01-01

    textabstractThe bacterial microbiota of 15 sigmoid neovaginas, created in patients with congenital vaginal aplasia or male transsexualism, was studied. No specimen was sterile, and only normal inhabitants of the colon were cultured. The total counts of bacteria were lower than those reported for healthy sigmoid colons.

  3. Disease: H00600 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00600 46,XX disorders of sex development (Other), including: Mullerian aplasia and...k-Kaufman) MKKS [HSA:8195] [KO:K09492] MeSH: D058489 OMIM: 158330 236700 PMID:18279784 (description, gene) Hughes IA Disorders..., Skordis N Sex determination and disorders of sex development according to the revised nomenclature and cla

  4. Poland's syndrome (A case report)

    OpenAIRE

    Calpur, Osman U.; Aktas, Seref

    2004-01-01

    Poland s syndrome is a rare disease characterized by congenital aplasia of the pectoralis major muscle associated with ipsilateral hand deformities (mosr often synbrachydactylia). In this paper we presented a case of Poland s syndrome with a short review of contemporary literature.

  5. High dose ionizing irradiation induces an early and transient increase in peripheral blood hematopoietic progenitor cells; L`exposition aigue aux radiations ionisantes induit un recrutement transitoire des progeniteurs hematopoietiques au niveau du sang peripherique: implications therapeutiques potentielles

    Energy Technology Data Exchange (ETDEWEB)

    Drouet, M.; Mathieu, J.; Grenier, N.; Vetillard, J.; Chauvelot, F.; Thierry, D.; Mestries, J.C.; Herodin, F. [Centre de Recherches du Service de Sante des Armees, La Tronche, 38 - Grenoble (France)]|[Centre de Recherches du Service de Sante des Armees - Centre d`Etudes Nucleaires de Fontenay-aux-Roses, 92 (France)

    1997-12-31

    Nonhuman primates exposed to ionizing radiation exhibit an early and transient increase in peripheral blood committed hematopoietic progenitor cells. The management of bone marrow aplasia secondary to accidental irradiation could be based in part on the re-infusion of those circulating autologous progenitors following a period of ex vivo expansion with cytokines. (authors)

  6. Tracheobronchial Branching Anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick [Soonchunhyang University, Cheonan Hospital, Cheonan (Korea, Republic of); Park, A Young [Soonchunhyang University College of Medicine, Asan (Korea, Republic of)

    2010-04-15

    There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

  7. Disease: H00637 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00637 Ulnar -mammary syndrome; Schinzel syndrome Ulnar -mammary syndrome (UMS) is an autosomal do ... ateral hypoplasia or aplasia of upper limbs on the ulnar ... side, mammary and apocrine gland hypoplasia, and g ... ene) Linden H, Williams R, King J, Blair E, Kini U Ulnar ... Mammary syndrome and TBX3: expanding the phenotype ...

  8. THE EFFECT OF CYCLOSPORINE ON HEMATOLOGICAL PARAMETERS IN PATIENTS WITH PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA

    NARCIS (Netherlands)

    VANKAMP, H; VANIMHOFF, GW; DEWOLF, JTM; SMIT, JW; HALIE, MR; VELLENGA, E

    1995-01-01

    Four patients with paroxysmal nocturnal haemoglobinuria (PNH) were treated with cyclosporine. The treatment with cyclosporine was based on the hypothesis that immune-mediated bone-marrow damage is the common pathogenetic mechanism of aplasia and PNH, with lack of GPI-linked ligands for an immune att

  9. Cerebellar dermoid tumor and occipital meningocele in a monozygotic twin : clues to the embryogenesis of craniospinal dysraphism

    NARCIS (Netherlands)

    Groen, R J; van Ouwerkerk, W J

    1995-01-01

    A case of monochorionic/monoamnionic twin with discordant occipital developmental malformations is presented. One female twin appeared to have an occipital meningocele with cerebellar aplasia and died immediately after birth. The other twin presented with signs and symptoms of raised intracranial pr

  10. Pathmorphological investigation of pulmonary infections complications in persons dying from acute radiation sickness after Chernobyl accident

    International Nuclear Information System (INIS)

    Lungs of 27 persons who participated in liquidation of Chernobyl accident and died from acute radiation sickness were studied histologically. Pulmonary infections were found, including invasion of viral, bacterial and fungal agents. Being depended on hematopoietic function the inflammatory reactions were areactive during postirradiation aplasia and became typical within the recovery beginning

  11. Mutations in different components of FGF signaling in LADD syndrome.

    NARCIS (Netherlands)

    Rohmann, E.; Brunner, H.G.; Kayserili, H.; Uyguner, O.; Nurnberg, G.; Lew, E.D.; Dobbie, A.; Eswarakumar, V.P.; Uzumcu, A.; Ulubil-Emeroglu, M.; Leroy, J.G.; Li, Y.; Becker, C.; Lehnerdt, K.; Cremers, C.W.R.J.; Yuksel-Apak, M.; Nurnberg, P.; Kubisch, C.; Schlessinger, J.; Bokhoven, J.H.L.M. van; Wollnik, B.

    2006-01-01

    Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3

  12. Cleidocranial dysostosis: a report on two familial cases

    OpenAIRE

    Carlos Guilherme Gaelzer Porciuncula; Ricardo Ferreira de Lira; Maria Lucia Lima Soares; Diego Lisboa Araujo; Lucas Rocha Mota; Larine Ferreira Lira

    2013-01-01

    Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

  13. Exencephaly in araucana chickens and silkie bantams.

    Science.gov (United States)

    Griffiths, G L; Softly, A

    1985-01-01

    Exencephaly and hydranencephaly were diagnosed in two 6-week-old araucana chickens (Gallus domesticus) and one adult silkie bantam (Gallus domesticus). The chickens were presented with large, subcutaneous, cranial soft-tissue masses and exhibited neurological signs. There was partial aplasia of the frontal bones, resulting in herniation of the cerebral hemispheres. PMID:4026741

  14. In utero phthalate effects in the female rat: a model for MRKH syndrome##

    Science.gov (United States)

    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by uterine and vaginal canal aplasia in normal karyotype human females and is a syndrome with poorly defined etiology. Reproductive toxicity of phthalate esters (PEs) occurs in rat offspring exposed in utero, a phen...

  15. In Utero Phthalate Effects in the Female Rat: A Model for MRKH Syndrome

    Science.gov (United States)

    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by uterine and vaginal canal aplasia in normal karyotype human females and is a syndrome with poorly define etiology. Reproductive toxicity of phthlate esters (PEs) occurs in rat offspring exposed in utero. a phenome...

  16. Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases

    Science.gov (United States)

    2005-06-23

    Purpura, Schoenlein-Henoch; Graft Versus Host Disease; Anemia, Hemolytic, Autoimmune; Rheumatoid Arthritis; Churg-Strauss Syndrome; Hypersensitivity Vasculitis; Wegener's Granulomatosis; Systemic Lupus Erythematosus; Giant Cell Arteritis; Pure Red Cell Aplasia; Juvenile Rheumatoid Arthritis; Polyarteritis Nodosa; Autoimmune Thrombocytopenic Purpura; Takayasu Arteritis

  17. Linking Drugs to Obscure Illnesses

    DEFF Research Database (Denmark)

    Bennett, Charles L; Starko, Karen M; Thomsen, Henrik S;

    2012-01-01

    Identification of serious adverse drug reactions (sADRS) associated with commonly used drugs can elude detection for years. Reye's syndrome (RS), nephrogenic systemic fibrosis (NSF), and pure red cell aplasia (PRCA) among chronic kidney disease (CKD) patients were recognized in 1951, 2000, and 19...

  18. mRNA translation regulation in Diamond Blackfan Anaemia

    NARCIS (Netherlands)

    R. Horos (Rastislav)

    2013-01-01

    textabstractDiamond Blackfan Anemia is a bone marrow failure syndrome in which patients lack erythroid precursor cells in the bone marrow. Therefore, it is also designated as pure red cell aplasia, as other hematological indices are at normal levels. Around half of DBA patients bear an autosomal dom

  19. Paternal uniparental disomy 14: introducing the 'coat-hanger' sign

    International Nuclear Information System (INIS)

    Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias. Skin biopsy confirmed the clinical diagnosis of congenital cutis laxa, but this did not explain the limb abnormalities. Radiographic findings (particularly the 'coat-hanger' configuration of the ribs on the chest radiograph), suggested a diagnosis of patUPD14, which was confirmed following DNA analysis. The patient died after prolonged respiratory failure. This combination of patUPD14 and congenital cutis laxa has not previously been described. Radiology can play a pivotal role in guiding the geneticist's choice of investigation. (orig.)

  20. Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Dueñas-Arias Jesus E

    2009-09-01

    Full Text Available Abstract Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously been reported in association with this syndrome. Case presentation We present a case of a Mexican newborn girl with tetralogy of Fallot associated with macrocephaly-capillary malformation. We discuss the clinical treatment of the patient and its consequences. Conclusion Since physiologic cutis marmorata is a common condition in newborns, the information provided in this report could be helpful in future cases in preventing severe clinical consequences or sudden death in patients with similar symptoms.

  1. Bioactive Compounds from Plants Used in Peruvian Traditional Medicine.

    Science.gov (United States)

    Lock, Olga; Perez, Eleucy; Villar, Martha; Flores, Diana; Rojas, Rosario

    2016-03-01

    It is estimated that there are as many as 1400 plant species currently used in traditional Peruvian medicine; however, only a few have undergone scientific investigation. In this paper, we make a review of the botanical, chemical, pharmacological and clinical propierties of the most investigated Peruvian medicinal plants. The plant species selected for this review are: Smallanthus sonchifolius (yacon), Croton lechleri (sangre de grado), Uncaria tomentosa/U. guianensis (uña de gato), Lepidium meyenii (maca), Physalis peruviana (aguaymanto), Minthostachys mollis (muña), Notholaena nivea (cuti-cuti), Maytenus macrocarpa (chuchuhuasi), Dracontium loretense (jergon sacha), Gentianella nitida (hercampuri), Plukenetia volubilis (sacha inchi) and Zea mays (maiz morado). For each of these plants, information about their traditional uses and current commercialization is also included. PMID:27169179

  2. Tissue distribution of 14C-astaxanthin in the Atlantic salmon (Salmo salar)

    International Nuclear Information System (INIS)

    Atlantic salmon (Salmo salar) were fed a diet containing 14C-labelled astaxanthin for five subsequent days. Ten days after the last feeding, two fish were sampled and submitted to whole-body autoradiography. A high degree of radioactivity was present in the dorsal cutis, the bile, the intestinal mucosa, the caudal kidney and the developing eggs. An intermediate degree of radiolabelling was found in the muscle and the cranial kidney, while only traces of radioactivity were recorded in the blood, the spleen and the gills. Contrary to the prevailing concensus, the level of astaxanthin and/or metabolites was higher in the myocommata than in the myotome. Furthermore, the substantial radiolabelling in the dorsal cutis strongly suggests that astaxanthin and/or its metabolites show affinity for melanin. Finally, the results give evidence for urinary and biliary excretion of astaxanthin-derived metabolites and for the likelihood of enterohepatic circulation

  3. The isothermal section at 923 K of the Co-Cu-Ti ternary system measured by using diffusion triple

    International Nuclear Information System (INIS)

    The isothermal section at 923 K in the Co-Cu-Ti system was experimentally studied by using the diffusion triple technique together with scanning electron microscopy (SEM) and electron probe microanalysis (EPMA). High solubility of Cu, up to 22.5 at.% (substituting Co) in CoTi was observed at this temperature; and the solubility of Co (substituting Cu) in CuTi is also large which is up to 14.0 at.%. For other binary compounds CoTi2, CuTi2, Cu4Ti3 and Cu3Ti2, the ternary solubilities are remarkable too. No ternary compound has been detected. Nine three-phase equilibria were determined and three others in the Ti-enriched corner were estimated. Further investigations are essential to confirm the possible ternary phase reported and to determine the invariant reactions in the ternary system

  4. Development of sputter coatings for the gravity probe B gyroscope housings

    Science.gov (United States)

    Zhou, P.; Cheung, S.; Lydic, T.; Turneaure, J. P.

    1988-01-01

    Cu/Ti coatings have been applied by sputter deposition to fused quartz housings to serve as the electrodes and lands of electrostatically supported gyroscopes. Niobium-coated fused quartz gyro rotors have been successfully suspended and spun up in those housings. The Cu/Ti bilayer coating and alternative multilayer coatings (Cu/Mo, Mo/Cu/Ti and Mo/Cu/Mo) with 2-micron thickness produced by sputter deposition on flat, fused quartz substrates have been examined with scanning electron microscopy, X-ray diffraction, X-ray photoelectron spectroscopy, and four-point resistivity measurement techniques. The multilayer coatings with a molybdenum bonding layer appear to produce smoother surfaces than those with a titanium bonding layer. All multilayer coatings survived thermal cycling to 77 K without adhesion failure.

  5. Nicolau syndrome following intramuscular injection of oxytocin in pregnant women: report of two cases

    OpenAIRE

    Seremet, Sila; Turan, Enver; Erdemir, Asli Turgut

    2015-01-01

    Nicolau syndrome, also known as embolia cutis medicamentosa, is a well known but very rare complication occuring after intramuscular drug injections and presenting with local intense pain. Immediately after injection the skin blanches and within minutes to hours an erythematous macule develops, which evolves into a livedoid violaceous patch with dendrites. This condition is initially hemorrhagic, then it ulcerates, and eventually heals with an atrophic scar. Many different drugs have been rep...

  6. HISTOANATOMICAL AND ECOPHYSIOLOGICAL STUDIES ON SOME HALOPHYTES FROM ROMANIA - PLANTAGO MARITIMA

    OpenAIRE

    Nicoleta IANOVICI

    2011-01-01

    This paper presents an histoanatomical and ecophysiological study of Plantago maritima. Studies were conducted to assess the diversity of anatomical adaptations of vegetative organs (roots, aerial stems, rhizomes and leaves) in this taxa. Results are presented with original photographs. The analysis of leaf anatomy in P. maritima showed that the leaves contained xeromorphic traits (high development of palisade and water storage parenchyma). Stomatal density is high for both epidermis and cuti...

  7. Nicolau syndrome due to diclofenac sodium (Voltaren®) injection: a case report

    OpenAIRE

    Kılıç, İnci; Kaya, Füruzan; Özdemir, Ayşe T; Demirel, Tuğba; Çelik, İlhami

    2014-01-01

    Introduction Nicolau syndrome, also known as livedo-like dermatitis or embolia cutis medicamentosa, is a rare complication following the intramuscular or intra-articular injection of various drugs. Case presentation In our case report we report the case of a 45-year-old Turkish woman who developed Nicolau syndrome after an intramuscular injection in her right gluteal region of single-dose diclofenac sodium to treat a headache. A culture taken from the ulcer showed growth of methicillin-sensit...

  8. Tissue necrosis following intramuscular diclofenac injection

    OpenAIRE

    Baykan, Halit; Kuvat, Samet Vasfi; Bozkurt, Mehmet; Kapı, Emin; Çelik, Feyzi

    2010-01-01

    Following intramuscular drug injections, livedoid dermatitis (also known as embolia cutis medicamentosa or Nicolau Syndrome), characterized by pain, skin discoloration, and cutaneous necrosis, may rarely be observed. In the present study, we present a 32-year-old male patient who developed Nicolau Syndrome after intramuscular injection of single-dose diclofenac sodium 75 mg due to renal colic pain. The physical examination revealed skin discoloration in his left gluteal region, and a skin nec...

  9. Tissue necrosis following intramuscular diclofenac injection

    OpenAIRE

    Feyzi Çelik; Emin Kapı; Mehmet Bozkurt; Samet Vasfi Kuvat; Halit Baykan

    2010-01-01

    Following intramuscular drug injections, livedoid dermati-tis (also known as embolia cutis medicamentosa or NicolauSyndrome), characterized by pain, skin discoloration,and cutaneous necrosis, may rarely be observed. In thepresent study, we present a 32-year-old male patient whodeveloped Nicolau Syndrome after intramuscular injec-tion of single-dose diclofenac sodium 75 mg due to renalcolic pain. The physical examination revealed skin discol-oration in his left gluteal region, and a skin necro...

  10. Nodular regenerative hyperplasia of the liver, CREST syndrome and primary biliary cirrhosis: an overlap syndrome?

    OpenAIRE

    McMahon, R F; Babbs, C.; Warnes, T W

    1989-01-01

    Nodular regenerative hyperplasia of the liver (NRHL) has been found in association with collagen vascular diseases, after drug therapy, with autoimmune disease, and with a variety of haematological disorders. The association of NRHL with the syndrome of Calcinosis cutis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangiectasia (CREST syndrome) has only been reported on two previous occasions. The liver disease usually associated with CREST syndrome is primary biliary ci...

  11. Lyme Disease—Current State of Knowledge

    OpenAIRE

    Nau, Roland; Christen, Hans-Jürgen; Eiffert, Helmut

    2009-01-01

    The spirochete Borrelia burgdorferi sensu lato is present in approximately 5% to 35% of sheep ticks (Ixodes ricinus) in Germany, depending on the region. In contrast to North America, different genospecies are found in Europe. The most frequent clinical manifestation of Borrelia infection is erythema migrans, followed by neuroborreliosis, arthritis, acrodermatitis chronica atrophicans, and lymphocytosis benigna cutis. Diagnosis is made on the basis of the clinical symptoms, and in stages II a...

  12. Unusual presentation of cutaneous leiomyoma

    Directory of Open Access Journals (Sweden)

    Sapnashree Bhaskar

    2014-01-01

    Full Text Available Herein, we report a case of leiomyoma cutis because of its rarity and unusual presentation. The case presented with a solitary leiomyoma lesion which was painless. However, the adjacent normal appearing area was tender. A biopsy of the lesion as well as of a portion of the adjacent normal appearing area was taken, which confirmed the diagnosis of cutaneous leiomyoma. This may suggest the dormant nature of the disease which has not yet become apparent.

  13. Еротизм у живописі польської сецесії

    OpenAIRE

    Олександр Станичнов

    2016-01-01

    The article explores the erotic themes and motives in art nouveau period. We consider the use of symbols, art means, features of compositional methods in the transfer of eroticism. We analyze the identity of manifestation of new composite schemes, harmonization of relations of form, colour, texture and lighting in the direction of erotic elements of Polish artists. We can see the image of models in seductive poses of the fatal cuties. We can track the modeling of shapes with light and shadow,...

  14. A technique for pediatric total skin electron irradiation

    OpenAIRE

    Bao Qinan; Hrycushko Brian A; Dugas Joseph P; Hager Frederick H; Solberg Timothy D

    2012-01-01

    Abstract Background Total skin electron irradiation (TSEI) is a special radiotherapy technique which has generally been used for treating adult patients with mycosis fungoides. Recently, two infants presented with leukemia cutis isolated to the skin requiring TSEI. This work discusses the commissioning and quality assurance (QA) methods for implementing a modified Stanford technique using a rotating harness system to position sedated pediatric patients treated with electrons to the total skin...

  15. Mechanistic origins of bombardier beetle (Brachinini) explosion-induced defensive spray pulsation

    OpenAIRE

    Arndt, Eric Michael; Moore, Wendy; Lee, Wah-Keat; Ortiz, Christine

    2014-01-01

    Bombardier beetles (Brachinini) use a rapid series of discrete explosions inside their pygidial gland reaction chambers to produce a hot, pulsed, quinone-based defensive spray. The mechanism of brachinines’ spray pulsation was explored using anatomical studies and direct observation of explosions inside living beetles using synchrotron x-ray imaging. Quantification of the dynamics of vapor inside the reaction chamber indicates that spray pulsation is controlled by specialized, contiguous cuti...

  16. Complex spinel titanate as an advanced anode material for rechargeable lithium-ion batteries

    International Nuclear Information System (INIS)

    Highlights: • Li2Zn0.5Cu0.5Ti3O8 was prepared by a simple solid state reaction. • Li2Zn0.5Cu0.5Ti3O8 shows better electrochemical property than Li2CuTi3O8 and Li2ZnTi3O8. • Li2Zn0.5Cu0.5Ti3O8 can deliver a reversible capacity of 162 mA h g−1 after 50 cycles. - Abstract: In this work, complex spinel titanates Li2MTi3O8 (M = Zn, Cu, Zn0.5Cu0.5) have been synthesized by a simple solid state reaction route. Their crystal structures are described and verified by Rietveld refinement. Electrochemical results exhibit that Li2CuTi3O8 has a highest lithium storage capacity of 242 mA h g−1 and Li2ZnTi3O8 displays the lowest initial charge capacity of 190 mA h g−1 among all the three samples. However, both Li2CuTi3O8 and Li2ZnTi3O8 show poor capacity retention and low reversible capacity after 50 cycles. Li2Zn0.5Cu0.5Ti3O8 shows higher structural and cycling stability than that of Li2ZnTi3O8 and Li2CuTi3O8. As a result, Li2Zn0.5Cu0.5Ti3O8 can deliver a reversible capacity of 162 mA h g−1 after 50 cycles with capacity retention of 74%

  17. Late onset isotretinoin resistant acne conglobata in a patient with acromegaly

    OpenAIRE

    Jain Kapil; Jain V; Aggarwal Kamal; Bansal Anu

    2008-01-01

    A 55 year-old male presented with multiple pus-discharging abscesses and sinuses and mutilating scarring on the gluteal region and back prevalent for the last ten years with exacerbations and remissions. Physical examination revealed acromegaly with frontal bossing, prognathism, a barrel chest and acral hypertrophy. Dermatological examination revealed cutis verticis gyrata, thick eyelids, a large triangular nose, a thickened lower lip, macroglossia, widely spaced teeth and widened skin pores ...

  18. Synthesis of TiCuAg thick film inks for glass frit free metallization of aluminium nitride

    International Nuclear Information System (INIS)

    A glas frit free screen printing ink for metallization of AIN was developed. Bonding to the substrate is achieved by active metal additives. The metallic component consists of Cu and Ag powder synthesized from inorganic salts by the polyol process, and Cu-Ti powder synthesized by arc melting, milling and ultracentrifugation. This ternary powder mixture was introduced to a specifically developed organic vehicle and screen printed onto AIN. The detailed development process and the results will be presented. (author)

  19. Pharmacotherapy of Complicated Urinary Tract and Intra-abdominal Infections with Doripenem

    Directory of Open Access Journals (Sweden)

    Anthony M. Nicasio

    2009-01-01

    Full Text Available Due to the growing rate of multi-drug resistant bacteria in complicated infections, the need for new broad-spectrum antimicrobials is paramount. Doripenem, a new addition to the intravenous carbapenem class, has recently been approved for the treatment of complicated lower urinary tract infections and/or pyelonephritis (cUTI and complicated intra-abdominal infections (cIAI in adult patients. Doripenem exhibits potent in vitro and in vivo bactericidal activity against an assortment of Gram-positive and Gram-negative aerobic and anaerobic organisms, including Pseudomonas aeruginosa, Acinetobacter baumannii, and Enterobacteriaceae that produce extended spectrum beta-lactamases (ESBL. Relative to other available carbapenems, doripenem typically displays MICs that are 1–2 dilutions lower than meropenem and 2–4 dilutions lower than imipenem against P. aeruginosa. Since the kidneys primarily excrete doripenem as whole drug, dose adjustments are needed in patients with renal impairment. Doripenem 500 mg q8 h demonstrated non-inferiority to levofloxacin 250 mg q24 h in clinical trials of patients with cUTI; it was non-inferior to meropenem 1000 mg q8 h in patients with cIAI. Doripenem’s broad spectrum of activity, in vitro potency against particularly difficult to treat organisms, and desirable safety profile make it an attractive option in the treatment of cUTI and cIAI.

  20. Cochlear implant: what the radiologist should know; Implante coclear: o que o radiologista precisa saber

    Energy Technology Data Exchange (ETDEWEB)

    Gomes, Natalia Delage; Couto, Caroline Laurita Batista; Gaiotti, Juliana Oggioni; Costa, Ana Maria Doffemond; Ribeiro, Marcelo Almeida; Diniz, Renata Lopes Furletti Caldeira, E-mail: nataliadelagegomes@gmail.com [Hospital Mater Dei, Belo Horizonte, MG (Brazil). Unidade de Radiologia e Diagnostico por Imagem

    2013-05-15

    Cochlear implant is the method of choice in the treatment of deep sensorineural hypoacusis, particularly in patients where conventional amplification devices do not imply noticeable clinical improvement. Imaging findings are crucial in the indication or contraindication for such surgical procedure. In the assessment of the temporal bone, radiologists should be familiar with relative or absolute contraindication factors, as well as with factors that might significantly complicate the implantation. Some criteria such as cochlear nerve aplasia, labyrinthine and/or cochlear aplasia are still considered as absolute contraindications, in spite of studies bringing such criteria into question. Cochlear dysplasias constitute relative contraindications, among them labyrinthitis ossificans is highlighted. Other alterations may be mentioned as complicating agents in the temporal bone assessment, namely, hypoplasia of the mastoid process, aberrant facial nerve, otomastoiditis, otosclerosis, dehiscent jugular bulb, enlarged endolymphatic duct and sac. The experienced radiologist assumes an important role in the evaluation of this condition. (author)

  1. Cochlear implant: what the radiologist should know

    Directory of Open Access Journals (Sweden)

    Natalia Delage Gomes

    2013-06-01

    Full Text Available Cochlear implant is the method of choice in the treatment of deep sensorineural hypoacusis, particularly in patients where conventional amplification devices do not imply noticeable clinical improvement. Imaging findings are crucial in the indication or contraindication for such surgical procedure. In the assessment of the temporal bone, radiologists should be familiar with relative or absolute contraindication factors, as well as with factors that might significantly complicate the implantation. Some criteria such as cochlear nerve aplasia, labyrinthine and/or cochlear aplasia are still considered as absolute contraindications, in spite of studies bringing such criteria into question. Cochlear dysplasias constitute relative contraindications, among them labyrinthitis ossificans is highlighted. Other alterations may be mentioned as complicating agents in the temporal bone assessment, namely, hypoplasia of the mastoid process, aberrant facial nerve, otomastoiditis, otosclerosis, dehiscent jugular bulb, enlarged endolymphatic duct and sac. The experienced radiologist assumes an important role in the evaluation of this condition.

  2. Cleidocranial dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun [Chosun University College of Medicine, Gwangju (Korea, Republic of)

    2004-03-15

    Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

  3. Chronic meningitis and central nervous system vasculopathy related to Epstein Barr virus

    Directory of Open Access Journals (Sweden)

    Anil Kumar B Patil

    2012-01-01

    Full Text Available Chronic active Epstein Barr virus (EBV infection causes a wide spectrum of manifestation, due to meningeal, parenchymal and vascular involvement. An 11-year-old boy presented with chronic headache, fever and seizures of 18 months duration. His magnetic resonance imaging Brain showed fusiform aneurysmal dilatations of arteries of both the anterior and posterior cerebral circulation. Cerebrospinal fluid (CSF showed persistent lymphocytic pleocytosis, raised proteins and low sugar with positive polymerase chain reaction for EBV. He later developed pancytopenia due to bone marrow aplasia, with secondary infection and expired. From clinical, imaging and CSF findings, he had chronic lymphocytic meningitis with vasculopathy, which was isolated to the central nervous system. He later had marrow aplasia probably due to X-linked lymphoproliferative disorder related to EBV infection. Vasculopathy, especially diffuse fusiform aneurysmal dilatation associated with chronic EBV infection, is rare, but has been described, similar to our case report.

  4. Autologous reconstruction of a complex form of Poland syndrome using 2 abdominal perforator free flaps.

    Science.gov (United States)

    Masia, Jaume; Pons, Gemma; Loschi, Pietro; Sanchez Porro-Gil, Lidia; Nardulli, Maria Luisa; Olivares, Leyre

    2015-05-01

    Poland syndrome is the most frequent cause of congenital breast aplasia and hypoplasia. Breast and possible chest wall deformities can be treated with several surgical techniques, including implants, and pedicled or free flaps.We describe the case of a young patient with severe Poland syndrome with amastia, athelia, and deformity of the chest wall, and aplasia of 2 ribs. Marked hypoplasia of the ipsilateral latissimus dorsi muscle ruled out a reliable reconstructive option.Two perforator flaps were performed in a single-stage operation. A hemi-deep inferior epigastric perforator flap was harvested to correct the chest deformity, whereas the contralateral superficial inferior epigastric artery flap allowed breast reconstruction.No complications occurred and a subjectively and objectively pleasing cosmetic result was maintained at 3-year follow-up. PMID:24322640

  5. Cretinism revisited

    Directory of Open Access Journals (Sweden)

    Ankit Srivastav

    2012-01-01

    Full Text Available Objective: Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital hypothyroidism. It has been largely eliminated in the developed world, though we still continue to see cases in India. Case Report: A 22-year-old male was brought to our Endocrine clinic by his brother due to his "not growing up." The patient was 83 cm in height (SDS - 16.98 and weighed 13.9 kg (150 IU/ml, free T4 and T3 below the assay range. Ultrasound of neck showed absent thyroid tissue in neck. Iodine-131 uptake scan was consistent with thyroid aplasia. Diagnosis was myxematous cretinism due to thyroid aplasia was made, and patient was started on thyroxine supplementation. Conclusion: This case represents the most severe form of untreated congenital hypothyroidism presenting as severely stunted physical and mental growth with delayed bone and sexual maturation.

  6. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    OpenAIRE

    Jonathan Lévy; Jean-Marie Jouannic; Julien Saada; Ferdinand Dhombres; Jean-Pierre Siffroi; Marie-France Portnoï

    2013-01-01

    Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects compris...

  7. Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly–Split Hand and Foot Malformation

    OpenAIRE

    DEMİRHAN, Osman

    2007-01-01

    Aim: Split hand-split foot malformation (SHFM) results from central ray reduction and presents as median clefts of the hands and feet, syndactyly, aplasia or hypoplasia of the phalanges, metacarpals and metatarsals, which are frequently associated with other phenotypic abnormalities. We aimed to investigate the genetic pathway of SHFM in a child. Materials and methods: Cytogenetic and molecular genetic analysis was performed in a 10-day-old boy with split-syndactyly hand and flat-syndactyly...

  8. Three new patients with FATCO: fibular agenesis with ectrodactyly.

    Science.gov (United States)

    Bieganski, Tadeusz; Jamsheer, Aleksander; Sowinska, Anna; Baranska, Dobromila; Niedzielski, Kryspin; Kozlowski, Kazimierz; Czarny-Ratajczak, Malwina

    2012-07-01

    We document three new patients with fibular agenesis, tibial campomelia, and oligosyndactyly (FATCO). Two of these individuals had tetramelic manifestations while the third had bilateral abnormalities of the lower limbs. These patients and others reported as FATCO seem to belong to the phenotype "fibular aplasia with ectrodactyly." Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities. © PMID:22628253

  9. MEDICAL MYSTERY: ECTRODACTYLY A CASE REPORT

    OpenAIRE

    Subhra Mandal; Prabir Mandal; Panchanan Kundu

    2015-01-01

    Congenital absence of all or part of one or more fingers or toes is defined as Ectrodactyly. It is the word derived from Greek ektroma meaning “abortion” and dactyly meaning digits. Also called split hand or foot malformation (SHFM), Ectrodactyly is a rare limb malformation with median cleft of hand and foot and aplasia or hypoplasia of the phalanges, metacarpals and metatarsals. Irregular pattern of inheritance exists for ectrodactyly; may be autosomal dominant, autosomal recessive or X link...

  10. Ectrodactyly/split hand feet malformation

    Directory of Open Access Journals (Sweden)

    Jindal Geetanjali

    2009-01-01

    Full Text Available Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

  11. Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association.

    Science.gov (United States)

    Kislal, Fatih Mehmet; Altuntas, Nilgun; Ozdemir, Osman; Ceylaner, Serdar; Kislal, Mustafa Hayri; Andiran, Nesibe

    2015-08-01

    The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented. There are only 5 cases of trisomy 18 syndrome associated with ectrodactyly in the literature. We present a case of trisomy 18 syndrome with unilateral ectrodactyly of the left foot, which is an infrequent association. PMID:26305313

  12. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

    OpenAIRE

    Van Bokhoven, H.; Jung, M; Smits, A P; van Beersum, S.; Rüschendorf, F; Van Steensel, M; Veenstra, M; Tuerlings, J.H.; Mariman, E.C.; Brunner, H.G.; Wienker, T. F.; Reis, A.; Ropers, H H; Hamel, B C

    1999-01-01

    We report on a large Dutch family with a syndrome characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia, and cleft palate with or without bifid uvula. This combination of symptoms has not been reported previously, although there is overlap with the ulnar mammary syndrome (UMS) and with ectrodactyly, ectodermal dysplasia, and clefting syndrome. Al...

  13. Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report

    OpenAIRE

    Abdulrasheed Adegboye; Olugbenga Ayodeji Mokuolu; Samuel Kolade Ernest; Omotayo Adesiyun; Adeline Adaje; Sefiyah Yahaya-Kongoila; Muhammed Adeboye; Mathew Durowaye

    2011-01-01

     Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, and genitourinary abnormalities. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) ...

  14. Thymoma followed by aplastic anemia: two different responses to immunosuppressive therapy

    OpenAIRE

    Murilo Antunes de Castro; Mariana Antunes de Castro; Adriano de Moraes Arantes; Maria do Rosário Ferraz Roberti

    2011-01-01

    Aplastic anemia is an uncommon complication of thymoma and is extremely infrequent after the surgical removal of a thymic tumor. Aplastic anemia is a result of marrow failure and is characterized by peripheral pancytopenia and severely depressed marrow cellularity; it may be an autoimmune manifestation of thymoma. As thymoma-associated hematological dyscrasias, which include pure red cell aplasia, aplastic anemia and myasthenia gravis, are supposed to be of immunologic origin, two cases of ve...

  15. Multifocal Aeromonas Osteomyelitis in a Child with Leukemia

    OpenAIRE

    Doganis, Dimitrios; Baka, Margarita; Tsolia, Maria; Pourtsidis, Apostolos; Lebessi, Evangelia; Varvoutsi, Maria; Bouhoutsou, Despina; Kosmidis, Helen

    2016-01-01

    Aeromonas hydrophila is a Gram negative organism causing both intestinal and extraintestinal disease. The case of a 14-year-old girl with underlying immunodeficiency and leukemia who developed systemic A. hydrophila infection is described in this report. While in deep bone marrow aplasia she developed fever, severe pain in the lower extremities, and swelling of the left femur. Blood culture showed Escherichia coli and A. hydrophila whereas pus culture from the soft tissue swelling showed the ...

  16. Intestinal acute graft versus host disease

    OpenAIRE

    Rovani, C; Danse, E; Dragean, C

    2010-01-01

    Background: We present a case of a 23-year-old man having drug addiction. He is managed by the department of hematology for an idiopathic medullar aplasia. Two months before his admission, he was treated with bone marrow transplantation. During follow-up, we noted a nonspecific recent cutaneous lesion. He was admitted for acute digestive symptoms including anorexia, nausea, vomiting and abdominal pain.

  17. BIZARRE CASE OF POLYDACTYLY WITH RIGHT MIRROR FOOT

    Directory of Open Access Journals (Sweden)

    Saif Omar

    2014-06-01

    Full Text Available Mirror foot, a form of polydactyly, is a rare congenital anomaly. In this form of congenital anomaly, there are several additional digits with accessory tarsal bones. It may be associated with fibular dimelia, tibial aplasia and tibial dysplasia. Cause of such anomaly is not known. On experimental basis it appears to involve ectopic SHH (Sonic hedgehog signaling in the limb bud mesenchyme

  18. Anomalies and developmental defects

    International Nuclear Information System (INIS)

    Amonalies and developmental defects in trachea and bronchi (tracheal bronch us, diverticulum of trachea or bronchus, defects due to atresia of bronchial tre e, tracheobronchomegaly), lung vessels (aneurisms of pulmonary artery, agenesia, aplasia and hypoplasia of pulmonary artery,anomalies of pulmonary veins, varico sis of pulmonary veins), pulmonary tissue (lung sequestration, congenital lobar pulmonary emphysema, essential hemosiderosis), have beendescribed. The problems of the diagnosis of the above-mentioned diseases using roentgenograms are consid ered

  19. Radiographic findings in the nail-patella syndrome

    OpenAIRE

    West, James A.; Louis, Thomas H.

    2015-01-01

    Nail-patella syndrome is a rare disorder characterized classically by the tetrad of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns. Iliac horns are considered pathognomonic, and the presence of hypoplastic or aplastic patellae in conjunction with nail abnormalities is a cardinal feature of diagnosis. Elbow dysplasia is present in most cases and can exhibit features typical of the syndrome. Herein we present the radiographic findi...

  20. Johanson-Blizzard syndrome with Diamond-Blackfan anemia.

    Science.gov (United States)

    Saeed, Muhammad; Rana, Muhammad Nasir; Ahmad, Tahir Masood

    2010-09-01

    Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Johanson Blizzard syndrome with classical clinical features, pancreatic insufficiency and Diamond-Blackfan anemia. PMID:20810061

  1. A pedigree study of perinatally lethal renal disease.

    OpenAIRE

    Bankier, A; de Campo, M; Newell, R.; Rogers, J. G.; Danks, D M

    1985-01-01

    A family study of perinatally lethal renal disease (PLRD) was undertaken in the State of Victoria, Australia, for the years 1961 to 1980. A total of 221 cases was ascertained through hospital and necropsy records and confirmed by necropsy findings. There were 134 cases of bilateral renal agenesis (BRA), 34 cases of unilateral agenesis with dysplasia of the other kidney (URA/RD), 42 cases of bilateral renal dysplasia (BRD), and 11 cases of renal aplasia. Parents of 131 babies were interviewed ...

  2. Bilateral Carotid and Vertebral Rete Mirabile Presenting with a Prominent Anterior Spinal Artery Mimicking a Spinal Dural AV Fistula at MRI

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Young; Cha, Sang Hoon [Chungbuk National University College of Medicine, Iksan (Korea, Republic of)

    2011-11-15

    Bilateral carotid and vertebral rete mirabile (CVRM) is a very rare condition. We report a new case of CVRM initially detected by magnetic resonance imaging (MRI) of the cervical spine. MRI demonstrated tortuous vascular signal voids limited to the anterior cerebrospinal fluid space mimicking spinal dural arteriovenous fistula. A diagnosis of CVRM was confirmed on the basis of angiographic findings of rete formation associated with bilateral aplasia of the cavernous internal carotid and vertebral arteries without abnormal arteriovenous connection.

  3. Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

    OpenAIRE

    Van Maldergem, L; Siitonen, H. A; Jalkh, N.; Chouery, E; Roy, M.; Delague, V; Muenke, M; Jabs, E W; J. Cai; Wang, L. L.; Plon, S E; Fourneau, C.; Kestilä, M.; Gillerot, Y; Mégarbané, A

    2005-01-01

    Baller‐Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between BGS, Rothmund‐Thomson syndrome (RTS), and RAPADILINO syndrome is noticeable. Bec...

  4. A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

    OpenAIRE

    Feldman, G.J.; Robin, N.H.; Brueton, L.A.; Robertson, E.; Thompson, E. M.; Siegel-Bartelt, J; Gasser, D L; Bailey, L C; Zackai, E. H.; Muenke, M

    1995-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chrom...

  5. Quantitative analytical technique applied to histopathology of birds infected experimentally by the virus of chicken anemia virus

    OpenAIRE

    García, Luz; Bermudez, Victor; Brett, Mariela; Peroza, Luzmila; Landa, Juan de; Borregales, Franklin

    2008-01-01

    This research was conducted on ten glass slides selected from the histopathology evaluation chickens. Five slides of control's chickens healthy and five slides of chickens infected experimentally with chicken anemia virus (CAV slide) between one and twenty-one days post infection (PI), they were analyzed in magnifications of 200× and 400×. Histopathology showed severe bone marrow hypoplasia to complete aplasia, fully depletion of the erythrocytic and granulocytic series, both accompanied by s...

  6. Quantitative analytical technique applied to histopathology of birds infected experimentally by the virus of chicken anemia virus

    OpenAIRE

    Landa Juan; Peroza Luzmila; Brett Mariela; Bermudez Victor; García Luz; Borregales Franklin

    2008-01-01

    Abstract This research was conducted on ten glass slides selected from the histopathology evaluation chickens. Five slides of control's chickens healthy and five slides of chickens infected experimentally with chicken anemia virus (CAV slide) between one and twenty-one days post infection (PI), they were analyzed in magnifications of 200× and 400×. Histopathology showed severe bone marrow hypoplasia to complete aplasia, fully depletion of the erythrocytic and granulocytic series, both accompa...

  7. Hematopoietic Stem Cell Transplantation—50 Years of Evolution and Future Perspectives

    OpenAIRE

    Israel Henig; Tsila Zuckerman

    2014-01-01

    Hematopoietic stem cell transplantation is a highly specialized and unique medical procedure. Autologous transplantation allows the administration of high-dose chemotherapy without prolonged bone marrow aplasia. In allogeneic transplantation, donor-derived stem cells provide alloimmunity that enables a graft-versus-tumor effect to eradicate residual disease and prevent relapse. The first allogeneic transplantation was performed by E. Donnall Thomas in 1957. Since then the field has evolved an...

  8. Bilateral Carotid and Vertebral Rete Mirabile Presenting with a Prominent Anterior Spinal Artery Mimicking a Spinal Dural AV Fistula at MRI

    International Nuclear Information System (INIS)

    Bilateral carotid and vertebral rete mirabile (CVRM) is a very rare condition. We report a new case of CVRM initially detected by magnetic resonance imaging (MRI) of the cervical spine. MRI demonstrated tortuous vascular signal voids limited to the anterior cerebrospinal fluid space mimicking spinal dural arteriovenous fistula. A diagnosis of CVRM was confirmed on the basis of angiographic findings of rete formation associated with bilateral aplasia of the cavernous internal carotid and vertebral arteries without abnormal arteriovenous connection.

  9. Scientific works of research workers of the army health service

    International Nuclear Information System (INIS)

    Ten articles about the effects of gamma radiation on human or animal cells are studied here. Regulation of cytokines, effect of interleukin 6, expression of the C-fos protein, interest of the study of a biological check up after an accidental irradiation, interaction and transport of cysteamine( radioprotector), approach of a treatment of radioinduced medullary aplasia, expression of TNF alpha and gelatinase B, are the subjects related here. (N.C.)

  10. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

    Directory of Open Access Journals (Sweden)

    Hinkes Bernward

    2012-05-01

    Full Text Available Abstract Background Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH, which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from kidney transplant failure caused by consuming membranous nephropathy. Case presentation A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the COL3A1 gene was underlying. Instead, array-based comparative genomic hybridisation (CGH detected a heterozygous 1.43 Mb deletion on chromosome 17q12 encompassing the two renal developmental genes HNF1β and LHX1. Conclusions Deletions of HNF1β have recently drawn significant attention in pediatric nephrology as an important cause of prenatally hyperechogenic kidneys, renal aplasia and renal hypodysplasia. In contrast, membranous nephropathy represents an often-unaccounted cause of nephrotic syndrome in the adult population. A causative connection between theses two conditions has never been postulated, but

  11. The Baller-Gerold syndrome.

    OpenAIRE

    Maldergem, L. van; Verloes, A.; Lejeune, L.; Gillerot, Y.

    1992-01-01

    A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands...

  12. Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18

    OpenAIRE

    Zhang Yanliang; Dai Yong; Ren Jinghui; Wang Linqian

    2010-01-01

    Isodicentric chromosome 18 [idic(18)] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. The parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array compa...

  13. Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18

    OpenAIRE

    Zhang, Yanliang; Dai, Yong; Ren, Jinghui; Wang, Linqian

    2010-01-01

    Isodicentric chromosome 18 [idic(18)] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. The parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array compa...

  14. Proboscis Lateralis of Nose—A Case Report

    OpenAIRE

    Magadum, Sunil Bajarang; Khairnar, Prashant; Hirugade, Shivprasad; Kassa, Vijay

    2011-01-01

    Lateral proboscis is a rare craniofacial malformation characterized by a rudimentary tubular, nose-like structure located off-center from the vertical midline of the face, and occur in association with a wide spectrum of other anomalies, including heminasal aplasia spectrum,mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting syndrome. Evaluation of a patient should include CT scan examination to look for growth of facial and skull bones. Reconstr...

  15. In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature

    OpenAIRE

    Esther N Pesciotta; Ho-Sun Lam; Andrew Kossenkov; Jingping Ge; Showe, Louise C.; Mason, Philip J.; Monica Bessler; Speicher, David W.

    2015-01-01

    Diamond Blackfan Anemia (DBA) is a rare, congenital erythrocyte aplasia that is usually caused by haploinsufficiency of ribosomal proteins due to diverse mutations in one of several ribosomal genes. A striking feature of this disease is that a range of different mutations in ribosomal proteins results in similar disease phenotypes primarily characterized by erythrocyte abnormalities and macrocytic anemia, while most other cell types in the body are minimally affected. Previously, we analyzed ...

  16. Scientific works of research workers of the army health service; Travaux scientifiques des chercheurs du service de sante des armees

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1995-12-31

    Ten articles about the effects of gamma radiation on human or animal cells are studied here. Regulation of cytokines, effect of interleukin 6, expression of the C-fos protein, interest of the study of a biological check up after an accidental irradiation, interaction and transport of cysteamine( radioprotector), approach of a treatment of radioinduced medullary aplasia, expression of TNF alpha and gelatinase B, are the subjects related here. (N.C.).

  17. Hematopoietic Defects in rps29 Mutant Zebrafish Depend Upon p53 Activation

    OpenAIRE

    Taylor, Alison Marie; Humphries, Jessica M.; White, Richard; Murphey, Ryan D.; Burns, Caroline Erter; Zon, Leonard Ira

    2012-01-01

    Disruption of ribosomal proteins is associated with hematopoietic phenotypes in cell culture and animal models. Mutations in ribosomal proteins are seen in patients with Diamond Black- fan anemia, a rare congenital disease characterized by red cell aplasia and distinctive cranio- facial anomalies. A zebrafish screen uncovered decreased hematopoietic stem cells in embryos with mutations in ribosomal protein rps29. Here, we determined that rps29L/L embryos also have red blood cell defects and i...

  18. PCI-32765, the First BTK (Bruton’s Tyrosine Kinase) Inhibitor in Clinical Trials

    OpenAIRE

    Brown, Jennifer R

    2013-01-01

    Ibrutinib is a potent covalent kinase inhibitor that targets BTK. BTK, or Bruton’s tyrosine kinase, is an obvious target for therapy of B cell diseases because inactivating mutations lead to B cell aplasia in humans and the disease X-linked agammaglobulinemia. Ibrutinib has modest cytotoxicity against CLL cells in vitro but also blocks trophic stimuli from the microenvironment. As with other inhibitors of the BCR pathway, ibrutinib causes rapid nodal reduction and response associated with rap...

  19. Parvovirus-induced dyserythropoeisis in a child

    Directory of Open Access Journals (Sweden)

    Jain Deepali

    2008-07-01

    Full Text Available Most persons with parvovirus B19 infection are asymptomatic or exhibit mild, nonspecific, cold-like symptoms. However, hematologic problems associated with the infection include transient aplastic crisis, chronic red cell aplasia, mild neutropenia and thrombocytopenia. A rare hematologic manifestation is in the form of dyserythropoeisis. Herein, we present the case of a 9-year-old female with severe dyserythropoeisis associated with parvovirus infection.

  20. Quantitative analysis of human herpesvirus-6 genome in blood and bone marrow samples from Tunisian patients with acute leukemia: a follow-up study

    OpenAIRE

    Faten, Nefzi; Agnès, Gautheret-Dejean; Nadia, Ben Fredj; Nabil, Abid Ben Salem; Monia, Zaier; Abderrahim, Khelif; Henri, Agut; Salma, Feki; Mahjoub, Aouni

    2012-01-01

    Background Infectious etiology in lymphoproliferative diseases has always been suspected. The pathogenic roles of human herpesvirus-6 (HHV-6) in acute leukemia have been of great interest. Discordant results to establish a link between HHV-6 activation and the genesis of acute leukemia have been observed. The objective of this study was to evaluate a possible association between HHV-6 infection and acute leukemia in children and adults, with a longitudinal follow-up at diagnosis, aplasia, rem...

  1. Congenital deformities and developmental abnormalities of the mandibular condyle in the temporomandibular joint.

    Science.gov (United States)

    Kaneyama, Keiseki; Segami, Natsuki; Hatta, Toshihisa

    2008-09-01

    The temporomandibular joint (TMJ) consists of the mandibular condyle and the articular eminence of the temporal bone. The morphological development of the TMJ during prenatal life lags behind other joints in terms of both the timing of its appearance and its progress. At birth, the joint is still largely underdeveloped. There are many causes of the various growth disturbances and abnormalities of the mandibular condyle and related structures. Growth disturbances in the development of the mandibular condyle may occur in utero late in the first trimester and may result in disorders such as aplasia or hypoplasia of the mandibular condyle. Meanwhile, hyperplasia of the mandibular condyle is not visible at birth and seems to be gradually acquired during growth. In the present review article, the congenital abnormalities of the mandibular condyle are classified morphologically into three major groups and two subgroups from a clinical standpoint: (1) hypoplasia or aplasia of the mandibular condyle, including (i) primary condylar aplasia and hypoplasia, (ii) secondary condylar hypoplasia; (2) hyperplasia; and (3) bifidity. In addition, the molecular-based etiology of anomalies of the mandibular condyle is also discussed. PMID:18778456

  2. Aplastic crisis due to human parvovirus B19 infection in hereditary hemolytic anaemia Crise aplástica devido à infecção por parvovirus humano B19 em anemia hemolítica hereditária

    Directory of Open Access Journals (Sweden)

    R. C. N. Cubel

    1992-10-01

    Full Text Available Specific anti-B19 IgM was demonstrated in sera from three children showing transient aplastic crisis. A two years-old boy living in Rio de Janeiro suffering from sickle-cell anaemia showed the crisis during August, 1990. Two siblings living in Santa Maria, RS, developed aplastic crisis during May, 1991, when they were also diagnosed for hereditary spherocytosis. For a third child from this same family, who first developed aplastic crisis no IgM anti-B19 was detected in her sera.IgM específica anti-B19 foi demonstrada nos soros de três crianças apresentando aplasia transitória de medula. Um menino de dois anos de idade vivendo no Rio de Janeiro e sendo portador de anemia falciforme, apresentou a crise durante Agosto de 1990. Dois irmãos vivendo em Santa Maria - RS, desenvolveram crise de aplasia em Maio de 1991, quando foram também diagnosticados como portadores de microesferocitose. IgM anti-B19 não foi detectada no soro de uma terceira criança, desta mesma família, a qual primeiramente apresentou crise de aplasia.

  3. Medical management of accidentally exposed individuals

    International Nuclear Information System (INIS)

    Bone marrow aplasia is one of the main syndromes following a high dose accidental radiation exposure. Whilst transfusion and bone marrow transplantation have been used with some success starting with the first treatments of accident victims, other therapeutic strategies are needed. With the development of experimental and clinical haematology, promising new approaches to the treatment of aplasia have appeared. New trends for the treatment of haemopoietic injury based on bone marrow transplantation rely on new sources of compatible donor cells, such as cord blood, on the selection of immature haemopoietic cells and on new transplant regimens. Haemopoietic growth factors stimulate the proliferation and/or differentiation of haemopoietic progenitors and, possibly, stem cells. Furthermore, they act on the functions of mature cells. Currently, they have specific uses in haematology related to their role in the regulation of growth and in the differentiation of haemopoietic progenitor cells. Growth factors have already been used for the treatment of accidental radiation induced aplasia and lessons have been learned from their medical management and followup. (author)

  4. Unilateral dysgenesis of the internal carotid artery: spectrum of imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    De Mendonca, J.L.F.; Viana, S.L.; Freitas, F.M.O.; Matos, V.L. [Magnetic Resonance Dept., Clinica Radiologica Vila Rica, Brasilia (Brazil)], E-mail: radiolog@uol.com.br; Viana, M.A.C.B. [Hospital de Base do Distrito Federal, Brasilia (Brazil); Silva, R.F. [Diagnostik, Hospital das Clinicas de Brasilia, Brasilia (Brazil); Quaglia, L.A.N. [Hospital Santa Lucia, Brasilia (Brazil); Guerra, J.G. [Hospital Regional de Taguatinga, Brasilia (Brazil)

    2008-04-15

    Dysgenesis of the internal carotid artery (ICA) is a broad term comprising hypoplasia, aplasia and agenesis of the vessel. It is a rare anomaly, often clinically silent, that can be confidently diagnosed by means of noninvasive imaging methods. After a review of teaching files, 7 patients with unilateral carotid dysgenesis were found, 2 with agenesis of the ICA, 3 with carotid aplasia, and 2 with hypoplasia of the vessel. Computed tomography (CT) and magnetic resonance angiography (MRA) of the brain were performed in all patients, with a complete magnetic resonance of the brain in 3 of them, a CT angiography of the brain in one, and MRA of the cervical arteries in 3. The fetal pattern of arterial circulation was found in 3 patients with agenesis/aplasia of the ICA and the adult pattern was found in 2 patients, being the brain circulation of normal pattern in the patients with hypoplasia of the ICA. Two patients presented signs of reduced flow to the brain hemisphere ipsilateral to the carotid dysgenesis; one of them with an old homolateral brain infarction. Far from being just an anatomic curiosity, the dysgenesis of the ICA may have serious consequences if not recognized prior to endarterectomies, carotid ligation or transsphenoidal surgery. As much as one-third of these patients will have intracranial aneurysms as well. The imaging methods, instead being mutually exclusive, are complementary in the evaluation of carotid dysgenesis. (author)

  5. Unilateral dysgenesis of the internal carotid artery: spectrum of imaging findings

    International Nuclear Information System (INIS)

    Dysgenesis of the internal carotid artery (ICA) is a broad term comprising hypoplasia, aplasia and agenesis of the vessel. It is a rare anomaly, often clinically silent, that can be confidently diagnosed by means of noninvasive imaging methods. After a review of teaching files, 7 patients with unilateral carotid dysgenesis were found, 2 with agenesis of the ICA, 3 with carotid aplasia, and 2 with hypoplasia of the vessel. Computed tomography (CT) and magnetic resonance angiography (MRA) of the brain were performed in all patients, with a complete magnetic resonance of the brain in 3 of them, a CT angiography of the brain in one, and MRA of the cervical arteries in 3. The fetal pattern of arterial circulation was found in 3 patients with agenesis/aplasia of the ICA and the adult pattern was found in 2 patients, being the brain circulation of normal pattern in the patients with hypoplasia of the ICA. Two patients presented signs of reduced flow to the brain hemisphere ipsilateral to the carotid dysgenesis; one of them with an old homolateral brain infarction. Far from being just an anatomic curiosity, the dysgenesis of the ICA may have serious consequences if not recognized prior to endarterectomies, carotid ligation or transsphenoidal surgery. As much as one-third of these patients will have intracranial aneurysms as well. The imaging methods, instead being mutually exclusive, are complementary in the evaluation of carotid dysgenesis. (author)

  6. Medical management of accidentally exposed individuals

    International Nuclear Information System (INIS)

    Bone marrow aplasia is one of the main syndromes following a high dose accidental radiation exposure. Although both transfusion and bone marrow transplantation have been used with some success since the first treatments of patients, other therapeutic strategies are needed. New promising approaches of the treatment of aplasia have appeared with the development of experimental and clinical hematology. Some new trends for the treatment of the hematopoietic injury based on bone marrow transplantation rely on new sources of compatible donor cells, such as cord blood, on the selection of immature haemopoietic cells and on new transplant regimens. The hematopoietic growth factors stimulate proliferation and/or differentiation of hematopoietic progenitors and possibly stem cells. Furthermore, they act on the functions of mature cells. They have now specific uses in hematology, related to their role in the regulation of growth and differentiation of hematopoietic progenitor cells. Some growth factors have already been used for the treatment of accidental radiation-induced aplasia and lessons have been learned from their medical management and follow-up. (author)

  7. The neuroradiological findings in a case of Revesz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scheinfeld, Meir H. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Montefiore Medical Center, Department of Radiology, Bronx, NY (United States); Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Kolb, Edward A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pediatrics, The Children' s Hospital at Montefiore, Bronx, NY (United States); Engel, Harry M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Ophthalmology, Bronx, NY (United States); Weidenheim, Karen M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pathology, Bronx, NY (United States)

    2007-11-15

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  8. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

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

  9. The spectrum of myopathies in the city of São Paulo

    Directory of Open Access Journals (Sweden)

    José A. Levy

    1976-12-01

    Full Text Available A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported. A total of 466 cases were examined and distributed as follows: 56% of progressive muscular dystrophy; 31% of myasthenia gravis; 6% of polymyositis; 4% of myotonic dystrophy; and the remainder of several different diseases (central core disease, Kearns-syndrome, myotonia congenita, adynamia episodica hereditaria, diabetic myopathy and Eaton-Lambert syndrome. Enzymatic dosages, electromyography, muscle biopsy, electrocardiography and genetic counselling are also reported.

  10. Autoimmune myasthenia gravis.

    Science.gov (United States)

    Jayawant, Sandeep; Parr, Jeremy; Vincent, Angela

    2013-01-01

    Myasthenia gravis in children can be generalized or ocular, and associated with antibodies to acetylcholine receptors or muscle-specific kinase, but it can be negative for those antibodies (seronegative). It needs to be distinguished from congenital myasthenic syndromes and other neuromuscular diseases. In the perinatal period, transient neonatal myasthenia and arthrogryposis multiplex congenita, due to maternal antibodies, need to be considered. Juvenile myasthenia is similar in presentation and treatment to that in adults. Here we present guidelines for recognition, diagnosis, and treatment. PMID:23622368

  11. The neuroradiological findings in a case of Revesz syndrome

    International Nuclear Information System (INIS)

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  12. Metodología para el diseño de prótesis médicas, utilizando tecnologías asistidas por computadora

    OpenAIRE

    Adrián Romero, Ignacio

    2006-01-01

    Entre los problemas serios de salud que existen en la sociedad mexicana, se pueden mencionar los que estan asociados al sistema oseo humano, provocados por traumatismos o malformaciones congenitas. Se establece una metodología que permita la parametrización de los implantes médicos considerando la forma osea del paciente, la metodología incluye aspectos técnicos como ajustes exactos entre el implante y el hueso, manufacturabilidad, biomodelación en programas de diseño asistido por computadora...

  13. Wettability and reactivity of silicon carbide by copper and copper alloys (Zn, Si, Ti)

    International Nuclear Information System (INIS)

    The alloys used in this work were Cu-Ti, Cu-Zr, Cu-Sn, Cu-Sn-Zr, pure copper and a mixture Cu-Cu2 O. DTA-TG measurements applied to pressed Si C-alloy mixtures showed reactivity in all mixtures, particularly during the cooling tests of the specimens. the formation of Cu4 Si was identified and the highest reactivity was shown by the Cu-Ti alloy. The effect of the unreacted Si metal (on the wettability of the RB-Si C by the molten Cu-ALloy) is not well established yet. SEM observations and MPA studies of infiltrated RB Si C-Ceramic as ceramic foams, porous pre-sintered ceramics of Si C-Particle in the molten alloys showed close interface contacts, good flow and a filling level. Cu-Sn alloy was the only case without secondary phase formation at the interface. The Cu-Ti, Cu-Zr.Sn and Cu-Zr alloys showed an enrichment of the reactive metal at the interface when the Cu contents were lowered. The reactive metal determined the Si contents at the interface, and no evidence of Si at the Si C metal interface was found for the Cu-Sn-Zr alloy. In the metallic zone, the MPA analysis showed the segregation of a secondary phase containing Si, Cu and Zr. XRD analysis provided the mineralogical composition of the phases. All these experimental results support positively the potential production of copper-matrix based Si C-composite materials. (author). 10 refs., 4 figs., 1 tab

  14. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

    Science.gov (United States)

    Syx, Delfien; Malfait, Fransiska; Van Laer, Lut; Hellemans, Jan; Hermanns-Lê, Trinh; Willaert, Andy; Benmansour, Abdelmajid; De Paepe, Anne; Verloes, Alain

    2010-07-01

    Defects leading to impaired intracellular trafficking have recently been shown to play an important role in the pathogenesis of genodermatoses, such as the Ehlers-Danlos and the cutis laxa syndromes. A new genodermatosis, termed macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome has been described, resulting from a homozygous 1-bp deletion in RIN2. RIN2 encodes the Ras and Rab interactor 2, involved in the regulation of Rab5-mediated early endocytosis. We performed a clinical, ultrastructural and molecular study in a consanguineous Algerian family with three siblings affected by a distinctive autosomal recessive genodermatosis, reported in 2005 by Verloes et al. The most striking clinical features include progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair and skin and joint hyperlaxity. Ultrastructural studies of the skin revealed important abnormalities in the collagen fibril morphology, and fibroblasts exhibited a dilated endoplasmic reticulum and an abnormal Golgi apparatus with rarefied and dilated cisternae. Molecular analysis of RIN2 revealed a novel homozygous 2-bp deletion in all affected individuals. The c.1914_1915delGC mutation introduces a frameshift and creates a premature termination codon, leading to nonsense-mediated mRNA decay. These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders. The current family displays considerable phenotypic overlap with MACS syndrome. However, our family shows a dermatological and ultrastructural phenotype belonging to the Ehlers-Danlos rather than the cutis laxa spectrum. Therefore, the MACS acronym is not entirely appropriate for the current family. PMID:20424861

  15. Bond strength optimization of Ti/Cu/Ti clad composites produced by roll-bonding

    International Nuclear Information System (INIS)

    Highlights: • Ti/Cu/Ti clad composite was successfully fabricated by the roll-bonding technique. • The most effective bonding parameter was post-annealing temperature. • The mechanism of the Cu/Ti roll bonding could be clarified using the film theory. - Abstract: This research focuses on the bond strength of the Ti/Cu/Ti composites fabricated by roll-bonding. The peel tests were used to evaluate the bond strength of the clad composites. The Taguchi technique was used to find the optimum conditions to maximize the Cu/Ti bond strength. The optical microscopy, scanning electron microscopy, energy dispersive X-ray spectroscopy, as well as peel and microhardness tests were utilized to characterize the interfacial zones. A Taguchi L32 orthogonal array was selected to study the influence of the roll-bonding parameters, including the roller lubrication conditions, temper condition of Cu, rolling temperature, reduction in thickness, post-annealing time, and post-annealing temperature, and rolling speed on the bond strength. Based on the Taguchi statistical analysis, the rolling temperature, reduction in thickness, post-annealing temperature and rolling speed have significant effects on the bond strength. Among these, the post-annealing temperature is the most effective factor. It was shown that the selection of the highest “reduction in thickness”, the lowest “rolling speed”, and the intermediate values of “rolling temperature” and “post-annealing temperature” leads to the highest bond strength. It was also indicated that the mechanism of the Cu/Ti roll bonding could be explained using the film theory

  16. Microstructural characterization of copper based alloys produced by reactive milling; caracterizacion microestructural de aleaciones base cobre obtenidas mediante molienda reactiva

    Energy Technology Data Exchange (ETDEWEB)

    Palma, R.; Sepulveda, A.; Zuniga, A.; Donoso, E.; Dianez, M. J.; Criado, J. M.

    2010-07-01

    The micro and nano structure of Cu-Al, Cu-V and Cu-Ti alloys produced by reactive milling were analyzed using X-ray diffraction (XRD) and transmission electron microscopy (TEM). Samples with different milling times (t= 0, 10, 20 and 30 h) were considered. The grain size, dislocation density and residual micro strain were evaluated form the XRD data using the Williamson-Hall and Klug-Alexander methods. The evolution of texture as a function of milling time was also studied using XRD. It was found, using TEM, that the grain size and dispersoid size were nano metric in all three alloys considered. (Author) 12 refs.

  17. CREST Syndrome

    OpenAIRE

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

    2014-01-01

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

  18. Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association

    Directory of Open Access Journals (Sweden)

    Konakanchi Venkatachalam

    2016-01-01

    Full Text Available Elastosis perforans serpiginosa (EPS, characterized by transepidermal elimination of fragmented elastic fibers, clinically presents as hyperkeratotic papules. EPS is classified into three types: (1 Idiopathic; (2 reactive, with associated connective tissue diseases such as pseudoxanthoma elasticum (PXE, Ehlers–Danlos syndrome, cutis laxa, Marfan syndrome, osteogenesis imperfecta, Down's syndrome; (3 the one that is induced by D-penicillamine. A rare association of EPS with PXE, which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature. We report a case of PXE with associated lesions that were histopathologically compatible with EPS.

  19. Nephrogenic systemic fibrosis: late skin manifestations

    DEFF Research Database (Denmark)

    Bangsgaard, Nannie; Marckmann, Peter; Rossen, Kristian;

    2009-01-01

    confluent dermal plaques with thickening and hardening. In contrast, 3 patients presented with wrinkled, redundant skin as seen in cutis laxa. Patients with NSF had significantly poorer scores than control patients on the Daily Life Quality Index (mean [SD], 11. 4 [7.4] vs 1.5 [2. 3]; P < .001). CONCLUSIONS......BACKGROUND: Nephrogenic systemic fibrosis (NSF) is a serious disease that occurs in patients with severe renal disease and is believed to be caused by gadolinium-containing contrast agents. A detailed description of the late skin manifestations of NSF is important to help dermatologists and...

  20. Surface and transport properties of Cu-Sn-Ti liquid alloys

    Institute of Scientific and Technical Information of China (English)

    R. Novakovic; E. Ricci; S. Amore; T. Lanata

    2006-01-01

    The lack of experimental data and / or limited experimental information concerning both surface and transport properties of liquid alloys often require the prediction of these quantities. An attempt has been made to link the thermophysical properties of a ternary Cu-Sn-Ti system and its binary Cu-Sn, Cu-Ti and Sn-Ti subsystems with the bulk through the study of the concentration dependence of various thermodynamic, structural, surface and dynamic properties in the frame of the statistical mechanical theory in conjunction with the quasi-lattce theory (QLT). This formalism provides valuable qualitative insight into mixing processes that occur in molten alloys.

  1. Effect of Bonding Temperature on Phase Transformation of Diffusion-Bonded Joints of Duplex Stainless Steel and Ti-6Al-4V Using Nickel and Copper as Composite Intermediate Metals

    Science.gov (United States)

    Kundu, Sukumar; Thirunavukarasu, Gopinath; Chatterjee, Subrata; Mishra, Brajendra

    2015-12-01

    In the present study, the effect of bonding temperature on phase transformation of diffusion-bonded joints of duplex stainless steel (DSS) and Ti-6Al-4V (Ti64) using simultaneously both nickel (Ni) and copper (Cu) interlayers was investigated in the temperature range of 1148 K to 1223 K (875 °C to 950 °C) insteps of 25 K (25 °C) for 60 minutes under 4 MPa uniaxial pressure in vacuum. Interfaces were characterized by scanning electron microscopy and interdiffusion of the chemical species across the diffusion interfaces were witnessed by electron probe microanalysis. At 1148 K (875 °C), layer-wise Cu4Ti, Cu2Ti, Cu4Ti3, CuTi, and CuTi2 phases were observed at the Cu-Ti64 interface; however, DSS-Ni and Ni-Cu interfaces were free from any intermetallic. At 1173 K and 1198 K (900 °C and 925 °C), Cu interlayer could not restrict the diffusion of atoms from Ti64 to Ni, and vice versa; and Ni-Ti-based intermetallics were formed at the Ni-Cu interface and throughout the Cu zone as well; however, at 1223 K (950 °C), both Ni and Cu interlayers could not inhibit the diffusion of atoms from Ti64 to DSS, and vice versa. The maximum shear strength of ~377 MPa was obtained for the diffusion couple processed at 1148 K (875 °C) and strength of the bonded joints gradually decreased with the increasing bonding temperature due to the widening of brittle intermetallics at the diffusion zone. Fracture path indicated that failure took place through the Cu4Ti intermetallic at the Cu-Ti64 interface when bonding was processed at 1148 K (875 °C). When bonding was processed at 1173 K and 1198 K (900 °C and 925 °C), fracture took place through the Ni3Ti intermetallic at the Ni-(Ni + Cu + Ti64 diffusion reaction) interface; however, at 1223 K (950 °C), fracture morphology indicated the brittle nature and the fracture took place apparently through the σ phase at the DSS-(DSS + Ni + Cu + Ti64 diffusion reaction) interface.

  2. Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.

    Science.gov (United States)

    Chu, Tsz Wai; MacNeil, Deanna Elise; Autexier, Chantal

    2016-04-15

    Normal human stem cells rely on low levels of active telomerase to sustain their high replicative requirements. Deficiency in telomere maintenance mechanisms leads to the development of premature aging diseases, such as dyskeratosis congenita and aplastic anemia. Mutations in the unique "insertion in fingers domain" (IFD) in the human telomerase reverse transcriptase catalytic subunit (hTERT) have previously been identified and shown to be associated with dyskeratosis congenita and aplastic anemia. However, little is known about the molecular mechanisms impacted by these IFD mutations. We performed comparative functional analyses of disease-associated IFD variants at the molecular and cellular levels. We report that hTERT-P721R- and hTERT-R811C-expressing cells exhibited growth defects likely due to impaired TPP1-mediated recruitment of these variant enzymes to telomeres. We showed that activity and processivity of hTERT-T726M failed to be stimulated by TPP1-POT1 overexpression and that dGTP usage by this variant was less efficient compared with the wild-type enzyme. hTERT-P785L-expressing cells did not show growth defects, and this variant likely confers cell survival through increased DNA synthesis and robust activity stimulation by TPP1-POT1. Altogether, our data suggest that multiple mechanisms contribute to cell growth defects conferred by the IFD variants. PMID:26887940

  3. Muscle channelopathies and electrophysiological approach

    Directory of Open Access Journals (Sweden)

    Cherian Ajith

    2008-01-01

    Full Text Available Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutation in genes coding for skeletal muscle voltage ionic channels. Familial periodic paralysis and nondystrophic myotonias are disorders of skeletal muscle excitability caused by mutations in genes coding for voltage-gated ion channels. These diseases are characterized by episodic failure of motor activity due to muscle weakness (paralysis or stiffness (myotonia. Clinical studies have identified two forms of periodic paralyses: hypokalemic periodic paralysis (hypoKPP and hyperkalemic periodic paralysis (hyperKPP, based on changes in serum potassium levels during the attacks, and three distinct forms of myotonias: paramyotonia congenita (PC, potassium-aggravated myotonia (PAM, and myotonia congenita (MC. PC and PAM have been linked to missense mutations in the SCN4A gene, which encodes α subunit of the voltage-gated sodium channel, whereas MC is caused by mutations in the chloride channel gene (CLCN1. Exercise is known to trigger, aggravate, or relieve symptoms. Therefore, exercise can be used as a functional test in electromyography to improve the diagnosis of these muscle disorders. Abnormal changes in the compound muscle action potential can be disclosed using different exercise tests. Five electromyographic (EMG patterns (I-V that may be used in clinical practice as guides for molecular diagnosis are discussed.

  4. Dermatomycosis: Conditions that contribute to the disease development

    Directory of Open Access Journals (Sweden)

    Stojanov Igor M.

    2011-01-01

    Full Text Available Skin lesions caused by dermatophytes are classified depending on the infected skin structure: surface layer of cutis, fur layer, clutches or nails. Surface mycoses are caused by dermatophytes: Epidermophyton, Microsporum and Trichophyton species (also important are Malassezia spp., Candida spp., and Trichosporon. Skin is the target tissue for fungal infections if the epithelial layer is damaged and immune system cannot cope with the infection, or if the conditions are favorable for dermatophytes, which spread in the cutis due to the enzyme activities. Dermatophytes can be found on skin surface if they contaminate or colonize epidermis or hair follicles. However, clinical symptoms of lesion on the skin are sometimes absent. According to the literature data 6-9% of skin lesions are caused by dermatophyte in human medicine. Similar situation is in veterinary medicine. Fungus that cause dermatomycosis are widespread in the nature and could be divided into: zoophilic, geophilic and anthrophilic. The goal of this paper is to present the latest knowledge in pathogenesis on dermatomycosis, predisposing factors important for the outcome of the disease, and immunological reaction of organism to the fungal infection. Our intention is to summarize the subject and present the facts related to specific problems in dermatomycosis.

  5. The Extended Likeability Framework: A Theoretical Framework for and a Practical Case of Designing Likeable Media Applications for Preschoolers

    Directory of Open Access Journals (Sweden)

    Vero vanden Abeele

    2008-01-01

    Full Text Available A theoretical framework and practical case for designing likeable interactive media applications for preschoolers in the home environment are introduced. First, we elaborate on the theoretical framework. We introduce the uses and gratifications paradigm (U&G. We argue that U&G is a good approach to researching likeability of media applications. Next, we complete the U&G framework with expectancy-value (EV theory. EV theory helps us move from theoretical insights to concrete design guidelines. Together, the U&G framework and the EV model form the foundation of our extended likeability framework for the design and evaluation of interactive media applications, for preschoolers in the home environment. Finally, we demonstrate a practical case of our extended likeability framework via the research project CuTI. The CuTI project aims at revealing those particular user gratifications and design attributes that are important to support playful behaviour and fun activities of preschoolers in the home environment.

  6. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

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

  7. A method for preparing composite diffusion coating alloy on ceramic surface

    Institute of Scientific and Technical Information of China (English)

    Zhang Hongxia; Wang Wenxian; Chen Shaoping; Wei Yinghui

    2008-01-01

    Metallization of the ceramic surfaces of Si3N4 and Al2O3 was carried out in a composite diffusion coating vacuum furnace using a Ti-Cu composite target. The experimental process and influencing factors were discussed. Optical microscope (OM), energy dispersive spectroscopy (EDS), scanning electron microscopy (SEM), X-ray diffusion (XRD) and sound emissive scratch test (SEST) were applied to evaluate the alloy layer formed on the ceramic surface. It was indicated that the diffusion coating alloy layer contained Cu, Ti, Fe, Al and Si etc. XRD result indicated that the diffusion coating alloy layer was composed of CuTi2, Cu, Si2Ti and CuTi, Al2TiO5, Ti3O5. It was found that the diffusion coating alloy layer got bonded with ceramic well, and no spallation occurred under the maximum load of 100N. Deposited Si3N4 ceramic was welded with Q235 and the joining quality was examined. Robust joint was formed between Si3N4 ceramic/Q235. This present method has advantages in high efficiency and low cost and provides a new approach for producing ceramic and metal bond.

  8. Laser-Arc Hybrid Welding of Dissimilar Titanium Alloy and Stainless Steel Using Copper Wire

    Science.gov (United States)

    Gao, Ming; Chen, Cong; Wang, Lei; Wang, Zemin; Zeng, Xiaoyan

    2015-05-01

    Laser-arc hybrid welding with Cu3Si filler wire was employed to join dissimilar Ti6Al4V titanium alloy and AISI316 stainless steel (316SS). The effects of welding parameters on bead shape, microstructure, mechanical properties, and fracture behavior were investigated in detail. The results show that cross-weld tensile strength of the joints is up to 212 MPa. In the joint, obvious nonuniformity of the microstructure is found in the fusion zone (FZ) and at the interfaces from the top to the bottom, which could be improved by increasing heat input. For the homogeneous joint, the FZ is characterized by Fe67- x Si x Ti33 dendrites spreading on α-Cu matrix, and the two interfaces of 316SS/FZ and FZ/Ti6Al4V are characterized by a bamboo-like 316SS layer and a CuTi2 layer, respectively. All the tensile samples fractured in the hardest CuTi2 layer at Ti6Al4V side of the joints. The fracture surface is characterized by river pattern revealing brittle cleavage fracture. The bead formation mechanisms were discussed according to the melt flow and the thermodynamic calculation.

  9. Local tumor hyperthermia in combination with radiation therapy. I. Malignant cutaneous lesions

    International Nuclear Information System (INIS)

    There is increasing evidence that the use of hyperthermia alone or in conjunction with other modalities may improve the therapeutic effectiveness of treatment of cancer. The present clinical studies were carried out to evaluate the response of normal and tumor tissues in patients with various cutaneous malignant lesions to repeated courses of hyperthermia alone or in conjunction with radiation therapy. Thirty-six patients with malignant cutaneous lesions (mycosis fungoides, Kaposi sarcoma, malignant melanoma, lymphoma cutis, and other metastatic skin lesions) have been studied. The heating methods used were: temperature regulated water bath immersion; and radiofrequency inductive heating. The normal tissue effects of the combined treatments of radiation and hyperthermia do not appear to be greater than those treated with radiation alone. The initial tumor regression rates were faster in patients treated with radiation plus hyperthermia than in radiation alone, particularly in patients with Kaposi sarcoma and lymphoma cutis. Among ten locally recurrent patients, seven showed significant prolonged benefits achieved by the combined treatments as compared with the radiation therapy alone. Fractionated hyperthermia alone caused significant tumor regression in four out of five patients. Possible mechanisms leading to the improved results from the combined treatments are discussed

  10. Study of diffusion bonding of Ti-6Al-4V and ZQSn10-10 with metal interlayer

    Institute of Scientific and Technical Information of China (English)

    Zhao Huanling; Zhao He; Feng Jicai; Song Minxia; Zhao Xihua

    2008-01-01

    The diffusion bonding was carried out to join Ti alloy (Ti-6Al-4V) and tin-bronze (ZQSn10-10) with Ni and Ni+Cu interlayer. The microstructures of the diffusion bonded joints were analyzed by scanning electron microscope (SEM), energy dispersive spectroscopy (EDS) and X-ray diffraction (XRD). The results show that when the interlayer is Ni or Ni+Cu transition metals both could effectively prevent the diffusion between Ti and Cu and avoid the formation of the Cu-Ti intermetallic compounds (Cu3Ti, CuTi etc.). But the Ni-Ti intermetallic compounds (NiTi, Ni3Ti) are formed on the Ti-6Al-4V/Ni interface. When the interlayer is Ni, the optimum bonding parameters are 830℃/10 MPa/30min. And when the interlayer is Ni+Cu, the optimum bonding parameters are 850℃/10MPa/20min. With the optimum bonding parameters, the tensile strength of the joints with Ni and Ni+Cu interlayer both are 155.8MPa, which is 65 percent of the strength of ZQSn10-10 base metal.

  11. Bilateral dyb venos trombose og vena cava-aplasi behandlet med lokal trombolyse

    DEFF Research Database (Denmark)

    Pelta, A.M.; Jorgensen, M.; Jensen, L.P.; Just, Sven Richardt Lundgren

    2008-01-01

    In this case report the treatment of a young man with bilateral iliaco-femoral DVT and vena cava aplasia is presented. The patient was treated with catheter-directed thrombolysis; the catheters were introduced in the thrombus of both legs via v. popliteae. The treatment led to almost complete thr...... thrombus resolution and no valvular incompetence at three months follow-up. In our opinion this treatment should be offered even in complex cases of acute proximal deep venous thrombosis Udgivelsesdato: 2008/5/19...

  12. Disease: H00847 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00847 Al-Awadi/Raas-Rothschild syndrome; Ulna and fibula, absence of, with sever l...imb deficiency Al-Awadi/Raas-Rothschild syndrome is a limb malformation disorder that has overlapping phenot...7A function in Al-Awadi/Raas-Rothschild syndrome whereas impairment is partial in...(description) Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild...range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia sy

  13. Study of erythropoiesis with 59Fe and erythrocyte survival with 51Cr in aplastic anemia

    International Nuclear Information System (INIS)

    A study of erythropoiesis with 59Fe and erythrocyte survival with 51Cr was carried out in 25 patients with aplastic anemia and in a control group of 23 healthy persons. Bone marrow aplasia was uniform in all patients but differences in erythropoiesis were established. According to the state of erythropoiesis, the patients were divided into two groups: 1) patients with severe damage of erythropoiesis and 2) patients with preserved erythropoiesis. Erythrocyte survival in both groups was shortened. The data obtained correlate with the anemic syndrome and help to explain its pathogenesis. It is suggested that the investigation of erythropoiesis with 59Fe and 51Cr is of prognostic value. (author)

  14. The role of human ribosomal proteins in the maturation of rRNA and ribosome production

    OpenAIRE

    Robledo, Sara; Rachel A Idol; Crimmins, Dan L.; Ladenson, Jack H.; Mason, Philip J.; Bessler, Monica

    2008-01-01

    Production of ribosomes is a fundamental process that occurs in all dividing cells. It is a complex process consisting of the coordinated synthesis and assembly of four ribosomal RNAs (rRNA) with about 80 ribosomal proteins (r-proteins) involving more than 150 nonribosomal proteins and other factors. Diamond Blackfan anemia (DBA) is an inherited red cell aplasia caused by mutations in one of several r-proteins. How defects in r-proteins, essential for proliferation in all cells, lead to a hum...

  15. Multifocal Aeromonas Osteomyelitis in a Child with Leukemia.

    Science.gov (United States)

    Doganis, Dimitrios; Baka, Margarita; Tsolia, Maria; Pourtsidis, Apostolos; Lebessi, Evangelia; Varvoutsi, Maria; Bouhoutsou, Despina; Kosmidis, Helen

    2016-01-01

    Aeromonas hydrophila is a Gram negative organism causing both intestinal and extraintestinal disease. The case of a 14-year-old girl with underlying immunodeficiency and leukemia who developed systemic A. hydrophila infection is described in this report. While in deep bone marrow aplasia she developed fever, severe pain in the lower extremities, and swelling of the left femur. Blood culture showed Escherichia coli and A. hydrophila whereas pus culture from the soft tissue swelling showed the presence of A. hydrophila. Imaging studies showed diffuse osteolytic lesions. Patient received 5 months of intravenous and oral antibiotics and she improved clinically whereas the radiology findings persisted. PMID:27200197

  16. Sarcoidosis presenting with severe hypocalcaemia.

    LENUS (Irish Health Repository)

    Saeed, A

    2012-01-31

    Disorders of calcium metabolism, especially hypercalcemia and hypercalceuria, are common in sarcoidosis. They are caused by extra renal unsuppressed production of 1,25 dihydroxy vitamin D at the level of the sarcoid granuloma. Hormonal changes during pregnancy have a physiological synergistic effect on this mechanism, which is primarily parathyroid hormone (PTH) dependant. However, the combination of primary hypoparathyroidism with hypocalcemia and sarcoidosis is rare. Di George syndrome, is a dysmorphic disorder characterised by aplasia\\/hypoplasia of thymus and parathyroid glands in addition to aortic arch anamolies and facial dysmorphia. After commencing appropriate treatment this lady made excellent recovary.

  17. Multifocal Aeromonas Osteomyelitis in a Child with Leukemia

    Directory of Open Access Journals (Sweden)

    Dimitrios Doganis

    2016-01-01

    Full Text Available Aeromonas hydrophila is a Gram negative organism causing both intestinal and extraintestinal disease. The case of a 14-year-old girl with underlying immunodeficiency and leukemia who developed systemic A. hydrophila infection is described in this report. While in deep bone marrow aplasia she developed fever, severe pain in the lower extremities, and swelling of the left femur. Blood culture showed Escherichia coli and A. hydrophila whereas pus culture from the soft tissue swelling showed the presence of A. hydrophila. Imaging studies showed diffuse osteolytic lesions. Patient received 5 months of intravenous and oral antibiotics and she improved clinically whereas the radiology findings persisted.

  18. Ultrasonography of various thyroid diseases in children and adolescents: A pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Hyun Sook; Lee, Eun Hye; Jeong, Sun Hye; Park, Ji Sang; Lee, Heon [Dept. of Radiology, Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon (Korea, Republic of)

    2015-04-15

    Thyroid imaging is indicated to evaluate congenital hypothyroidism during newborn screening or in cases of a palpable thyroid mass in children and adolescents. This pictorial essay reviews the ultrasonography (US) of thyroid diseases in children and adolescents, including normal thyroid gland development, imaging features of congenital thyroid disorders (dysgenesis, [aplasia, ectopy, hypoplasia], dyshormonogenesis, transient hypothyroidism, thyroglossal duct cyst), diffuse thyroid disease (Grave's disease, Hashimoto's thyroiditis, and suppurative thyroiditis), and thyroid nodules. The primary imaging modalities for evaluating thyroid diseases are US and radionuclide scintigraphy. Additionally, US can be used to guide aspiration of detected nodules.

  19. Hematopoietic Stem Cell Transplantation and History

    Directory of Open Access Journals (Sweden)

    Atila Tanyeli

    2014-02-01

    Full Text Available Attemps to employ marrow stem cell for therapeutic purpose began in 1940’s. Marrow transplantation might be of use not only in irradiation protection, but also with therapeutic aim to marrow aplasia, leukemia and other diseases. The use and defining tissue antigens in humans were crucial to the improving of transplantation. The administration of methotrexate for GVHD improved the long term survival. Conditioning regimens for myeloablation designed according to diseases. Cord blood and peripheral blood stem cells were used for transplantion after 1980’s. Cord blood and bone marrow stem cell banks established to find HLA matched donor.

  20. Complete recovery after the removal of an ectopic testicle in a case of primary reninism and retroperitoneal hemangioma

    Institute of Scientific and Technical Information of China (English)

    Bernhard Glodny; Alexandar Tzankov; Germar-Michael Pinggera; Johannes Petersen; Ralf Herwig

    2006-01-01

    A 32-year-old man recovered completely from hypokalemic hypertension that had been caused by primary reninism after the ablation of an ectopic left testis, epididymis and ductus deferens. For several years, severe hypertension has been resistant to treatment, even the concurrent administration of up to seven antihypertensive agents. In this case,cryptorchidism was associated with an indirect inguinal hernia and an open peritoneo-vaginal process on both sides,aplasia of the posterior wall of the inguinal canal on the right side, an umbilical hernia, and a retroperitoneal tendrillar hemangioma.

  1. Complete recovery after the removal of an ectopic testicle in a case of primary reninism and retroperitoneal hemangioma.

    Science.gov (United States)

    Glodny, Bernhard; Tzankov, Alexandar; Pinggera, Germar-Michael; Petersen, Johannes; Herwig, Ralf

    2006-03-01

    A 32-year-old man recovered completely from hypokalemic hypertension that had been caused by primary reninism after the ablation of an ectopic left testis, epididymis and ductus deferens. For several years, severe hypertension has been resistant to treatment, even the concurrent administration of up to seven antihypertensive agents. In this case, cryptorchidism was associated with an indirect inguinal hernia and an open peritoneo-vaginal process on both sides, aplasia of the posterior wall of the inguinal canal on the right side, an umbilical hernia, and a retroperitoneal tendrillar hemangioma. PMID:16491279

  2. Ultrasonography of various thyroid diseases in children and adolescents: A pictorial essay

    International Nuclear Information System (INIS)

    Thyroid imaging is indicated to evaluate congenital hypothyroidism during newborn screening or in cases of a palpable thyroid mass in children and adolescents. This pictorial essay reviews the ultrasonography (US) of thyroid diseases in children and adolescents, including normal thyroid gland development, imaging features of congenital thyroid disorders (dysgenesis, [aplasia, ectopy, hypoplasia], dyshormonogenesis, transient hypothyroidism, thyroglossal duct cyst), diffuse thyroid disease (Grave's disease, Hashimoto's thyroiditis, and suppurative thyroiditis), and thyroid nodules. The primary imaging modalities for evaluating thyroid diseases are US and radionuclide scintigraphy. Additionally, US can be used to guide aspiration of detected nodules.

  3. Aplastic anaemia preceding acute lymphoblastic leukaemia in an adult with isolated deletion of chromosome 9q.

    LENUS (Irish Health Repository)

    Kelly, Kevin

    2008-12-01

    Aplastic anaemia (AA) can precede acute lymphoblastic leukaemia (ALL) in 2% of children but this is rarely reported to occur in adults. A 21-year-old male presented with bone marrow failure and bone marrow biopsy showed a profoundly hypocellular marrow. He recovered spontaneously but represented 2 months later when he was diagnosed with pre-B acute lymphoblastic leukaemia. Chromosomal examination revealed 46,XY,del(9)(q13q34). To the best of our knowledge this is the first case to be reported of aplasia preceding ALL with 9q minus as the sole chromosomal abnormality.

  4. Terrorist threat, chemical, biological, radiological, nuclear medical approach

    International Nuclear Information System (INIS)

    The different aspects linked to the use of nuclear, radiological, biological and or chemical weapons are gathered in this work. They concern history, fundamental aspect, diagnosis, therapy and prevention. The part devoted to the nuclear aspect concern the accidents in relation with ionizing radiations, the radiation syndrome, the contribution and limits of dosimetry, the treatment of medullary aplasia, the evaluation and treatment of an internal contamination, new perspectives on the use of cytokine for the treatment of accidental irradiated persons, alternative to the blood transfusion. (N.C.)

  5. Derrame pleural en enfermedad de Milroy

    OpenAIRE

    Juan José Celis-Jiménez; María Daniela Barrios-Morales; Lorena Verónica Martínez-Zamora; Sara Inés Briceño Berbesí; José David Betancourt Salinas; Francisco R. Cammarata Scalisi

    2013-01-01

    La enfermedad de Milroy, también conocida como linfedema congénito primario, fue descrita inicialmente en 1892 por William Forsyth Milroy. Es una afección que se presenta generalmente en el nacimiento, o bien durante la infancia, de origen genético con patrón de herencia autosómico dominante, causada por un defecto en el receptor 3 del factor de crecimiento endotelial vascular VEGFR3, lo que conlleva a hipoplasia o aplasia de vasos linfáticos, mayormente de miembros inferiores hecho que se ma...

  6. Screening for neonatal hypothyroidism using filter paper spot TSH (RIA) in Beijing

    International Nuclear Information System (INIS)

    From May 1985 to December 1987, a survey of 15500 newborns for neonatal hypothyroidism using filter paper spot RIA for TSH and T4 was carried out in Beijing. Those infants with TSH values higher than 25 mU/L and/or T4 values lower than 3 μg/dl were recalled for further examination. The recall rate was 0.56%. Two infants were confirmed to have congenital hypothyroidism by serum TSH, T4(RIA) and thyroid scintigraphy wity 99mTc pertechnetate. One showed thyroid aplasia and the other ectopic thyroid. The incidence of hypothyroidism was 1:7750

  7. MURCS association--a review of 7 cases.

    Directory of Open Access Journals (Sweden)

    Mahajan P

    1992-07-01

    Full Text Available MURCS association (Mullerian hypoplasia/aplasia, renal agenesis and cervicothoracic somite dysplasia is emerging as the second most frequent cause of primary amenorrhoea after Turner syndrome. Seven cases have been described and analysed. All cases had absence of uterus and tubes 85% had cervical spine abnormalities such as vertebral fusion, hypoplasia of vertebrae or butterfly vertebrae and short stature and 28% had renal agenesis or ectopy. The latter finding is in contrast to the reports in world literature where the frequency of renal agenesis is higher. There was no familial incidence in these seven cases lending credence to the belief that the association is essentially sporadic.

  8. Disease: H00676 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available der; Eye disease FOXE3 [HSA:2301] [KO:K09398] ICD-10: Q12.3 MeSH: C537786 OMIM: 610256 PMID:19708017 (description) Iseri SU, Osborn...lgros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B Homozygous nonsense mutation in the FOXE3 gene as a c...H00676 Congenital primary aphakia Congenital primary aphakia (CPA) is a rare congenital eye disor...der characterized by the absence of lens. Formation of lens and lens-induced anterior structur...es does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caus

  9. Evaluation of cleft lip and palate by computed tomography with 2 mm thin slice scanning, 2

    International Nuclear Information System (INIS)

    Computed tomography was performed on 104 patients with cleft lip and palate by continuous 2 mm slice scanning. The type of hard palate was classified as normal, hypoplasia and aplasia, depending on its developmental degree. The shape of alveolus was also classified as circular, triangular and asymmetric forms for the evaluation of the maxillary development. The hard palate development correlated with the shape of the alveolus, the diameter of maxillary and mandibular bone, and frequency of sinusitis and otitis media. Evaluation of the hard palate by thin slice scanning is useful in presumption of future fecial development. (author)

  10. How many breaks do we need to CATCH on 22q11?

    Energy Technology Data Exchange (ETDEWEB)

    Dallapiccola, B.; Pizzuti, A.; Novelli, G. [Univ. of Rome, Rome (Italy)]|[Univ. of Milan (Italy)]|[CSS IRCCS Hospital, San Giovanni Rotondo (Italy)

    1996-07-01

    The major clinical manifestations of DiGeorge syndrome (DGS; MIM 188400), which reflect developmental abnormalities of the 3d and 4th pharyngeal pouch derivatives, include thymus- and parathyroid-gland aplasia or hypoplasia and conotruncal cardiac malformations. The additional dysmorphic facial features, such as hypertelorism, cleft lip and palate, bifid uvula, and small/low-set ears, which are also common, presumably reflect the same defect. The DGS phenotype has been associated with chromosome abnormalities and, sometimes, is the effect of teratogenic agents such as retinoic acid and alcohol. 53 refs., 1 fig.

  11. Evaluation of cleft lip and palate by computed tomography with 2 mm thin slice scanning, 2

    Energy Technology Data Exchange (ETDEWEB)

    Uchiyama, Mayuki; Tanaka, Hiroshi; Harada, Junta (Jikei Univ., Tokyo (Japan). School of Medicine)

    1992-06-01

    Computed tomography was performed on 104 patients with cleft lip and palate by continuous 2 mm slice scanning. The type of hard palate was classified as normal, hypoplasia and aplasia, depending on its developmental degree. The shape of alveolus was also classified as circular, triangular and asymmetric forms for the evaluation of the maxillary development. The hard palate development correlated with the shape of the alveolus, the diameter of maxillary and mandibular bone, and frequency of sinusitis and otitis media. Evaluation of the hard palate by thin slice scanning is useful in presumption of future fecial development. (author).

  12. Evaluation of cleft lip and palate by computed tomography with 2 mm thin slice scanning

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Hiroshi

    1988-07-01

    Computed tomography was carried out in 65 patients of cleft lip and palate with continuous 2 mm slice scanning. The cleft lip and palate was classified by shape of the hard palate as normal, hypoplasia, and aplasia, depending on its developmental degree. The shape of alveolus was also grouped as circular, triangular, and asymmetric forms for the evaluation of maxillar development. The hard palatal development well correlated with the shape of the alveolus. Frequency of sinusitis and mastoiditis increased with the severity of hard palatal malformation. Evaluation of the hard palate by thin slice scanning is usefull standpoint of presumption of future maxillary development.

  13. Evaluation of cleft lip and palate by computed tomography with 2 mm thin slice scanning

    International Nuclear Information System (INIS)

    Computed tomography was carried out in 65 patients of cleft lip and palate with continuous 2 mm slice scanning. The cleft lip and palate was classified by shape of the hard palate as normal, hypoplasia, and aplasia, depending on its developmental degree. The shape of alveolus was also grouped as circular, triangular, and asymmetric forms for the evaluation of maxillar development. The hard palatal development well correlated with the shape of the alveolus. Frequency of sinusitis and mastoiditis increased with the severity of hard palatal malformation. Evaluation of the hard palate by thin slice scanning is usefull standpoint of presumption of future maxillary development. (author)

  14. Você conhece esta síndrome? Do you know this syndrome?

    OpenAIRE

    Nadia Aparecida Pereira de Almeida; Flavia Serafini; Janaine Marchiori; Julie Gomes Del Moro

    2010-01-01

    A síndrome de Bart é caracterizada pela tríade de manifestações clínicas: epidermólise bolhosa, aplasia de cútis e anormalidades ungueais. Presume-se que a ausência congênita de pele segue as linhas de Blaschko. O tratamento visa a evitar infecções secundárias. O prognóstico é bom e depende da cicatrização das bolhas.Bart's syndrome is characterized by three clinical manifestations: epidermolysis bullosa, congenital absence of skin, and nail abnormalities. It is believed that congenital skin ...

  15. Mutations in different components of FGF signaling in LADD syndrome.

    Science.gov (United States)

    Rohmann, Edyta; Brunner, Han G; Kayserili, Hülya; Uyguner, Oya; Nürnberg, Gudrun; Lew, Erin D; Dobbie, Angus; Eswarakumar, Veraragavan P; Uzumcu, Abdullah; Ulubil-Emeroglu, Melike; Leroy, Jules G; Li, Yun; Becker, Christian; Lehnerdt, Kai; Cremers, Cor W R J; Yüksel-Apak, Memnune; Nürnberg, Peter; Kubisch, Christian; Kubisch, Chriütian; Schlessinger, Joseph; van Bokhoven, Hans; Wollnik, Bernd

    2006-04-01

    Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling. PMID:16501574

  16. The application of total or selective decontamination in dog bone marrow transplantation

    International Nuclear Information System (INIS)

    Total body irradiation (TBI) is used to prepare patients for the transfusion of allogeneic bone marrow (BM) cells. It includes a period of severe BM aplasia that lasts until donor BM cells have sufficiently regenerated. Conventionally treated, totally decontaminated and selectively decontaminated dogs were treated with 7.5 Gy TBI and 2 X 108 BM cells.kg-1 body weight plus additional donor lymph node cells from a DLA identical sibling. The aim of these studies was to solve the practical problems of total and selective decontamination in dogs and to determine the effects of these procedures on endogenous infections after TBI and the severity of GvHD. (Auth.)

  17. Experimental examinations of the late effect of ionizing radiation in fowl

    International Nuclear Information System (INIS)

    Late effects of X-irradiation on the reproductive system of chickens and on the leukosis rate were determined. No cases of leukosis were observed in White Rock and Leghorn chickens, which were irradiated with 500 R at the age of 1, 6 and 12 days. Aplasia of reproductive organs was recorded in 84% of the animals, whereas in 12% hypoplasia of oviduct and ovary took place. In Leghorn chickens which were irradiated with 400 R at the age of 1 and 6 days and parallely treated with methyl methanosulphonate, leukosis was established in 8% of all treated animals, i.e. in 22% of chickens that survived the acute toxic effect

  18. Infecção por Chryseobacterium indologenes: relato de um caso Chryseobacterium indologenes infection: a case report

    OpenAIRE

    Renata de Souza Ferreira; Fabiana Ferreira Barbosa Brandão; Suzana Margareth Lobo

    2010-01-01

    Relatamos um caso de infecção por Chryseobacterium indologenes, presente na cultura de aspirado traqueal em paciente sob ventilação mecânica invasiva, revisando os aspectos epidemiológicos, microbiológicos e o tratamento na unidade de terapia intensiva. Paciente do sexo masculino, 30 anos, internado com quadro de aplasia de medula idiopática e neutropenia febril foi transferido para a unidade de terapia intensiva com quadro de broncopneumonia e sepse grave de origem pulmonar. A maioria dos ca...

  19. Disostosis cleidocraneal: Revisión bibliográfica a propósito de un caso clínico.

    OpenAIRE

    Bernardita Toro; Antonieta Pérez; Claudia Fierro

    2012-01-01

    RESUMEN La Disostosis Cleidocraneal (CCD) es un raro trastorno congénito del esqueleto, asociado a hipoplasia o aplasia clavicular, retardo en el cierre de las fontanelas craneales, con tipo braquicéfalos, retraso de la exfoliación de la dentición temporal, erupción retardada de dientes permanentes, presencia de varios supernumerarios y alteraciones morfológicas del maxilar y mandíbula. El trastorno se hereda como una condición autosómica dominante y en el 40% de los casos de la CCD aparece ...

  20. Unilateral absence of cerebellar hemisphere: a case report

    International Nuclear Information System (INIS)

    We describe a 38-year-old woman with absence of right cerebellar hemisphere incidentally discovered by MR imaging. No cerebellar abnormality was detected on neurological examination. Tissue probably representing dysgenetic cerebellar tissue with no corticomedullary differentiation was present, connected to the right superior cerebellar peduncle. Ipsilateral enlargement of the pons and cerebral peduncle were additional findings. Although the terms ''aplasia'' or ''agenesis'' have been used to describe this entity, intrauterine destruction is the presumed pathogenetic mechanism in our case, and therefore these terms have been avoided. Asymmetry of pons and mesencephalon may be related to compensatory reorganisation or to the impairment of sequential development of nuclei and neural tracts. (orig.)

  1. Mayer-Rokitansky-Kuster-Hauser syndrome: a review

    Science.gov (United States)

    Londra, Laura; Chuong, Farah S; Kolp, Lisa

    2015-01-01

    The congenital aplasia or severe hypoplasia of mullerian structures is infrequent. However, the features of normal female endocrine function paired with the absence of a functional uterus and vagina makes it a fascinating entity. The diagnosis and work-up in these patients has become very efficient, thanks to the use of imaging, and there are multiple successful procedures for the creation of a neovagina. In recent years, infertility treatment options through in vitro fertilization have also become available as part of the long-term care of these patients. PMID:26586965

  2. Colovaginoplasty in a Case of Mayer-Rokitansky-Kuster-Hauser Syndrome

    Directory of Open Access Journals (Sweden)

    Muhammad Saleem

    2014-02-01

    Full Text Available Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS is characterized by various abnormalities of paramesonephric duct structures; vaginal aplasia being the commonest anomaly in the spectrum. We report a 17-year-old girl; a case of MRKHS with vaginal agenesis. The cervix was present but atretic; uterus, fallopian tubes and ovaries were normal. There were no associated renal or skeletal defects. Colovaginoplasty was done to bridge the gap between uterus and introitus. Postoperatively, small part of colovaginoplasty flap became necrotic posteriorly, which was ultimately managed by insetting of labial flap.

  3. A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus

    Science.gov (United States)

    Kulkarni, Maithili Mandar; Deshmukh, Sanjay D.; Hol, Kishor; Nene, Neha

    2015-01-01

    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to an early arrest in development of mullerian ducts. Women with this syndrome are characterized by the presence of 46 XX karyotype, normal female secondary sex characters, normal ovarian functions, and underdeveloped vagina. The presence of leiomyoma in MRKH syndrome is very rare, and only few cases have been reported in the literature. Here, we report a case of MRKH syndrome with multiple leiomyomas originating from the rudimentary horn of uterus in 25 years married, phenotypically female patient. PMID:26752861

  4. Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case

    Directory of Open Access Journals (Sweden)

    Anand Pai

    2013-01-01

    Full Text Available Mayer-Rokitansky-Kuster-Hauser (MRKH is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4 th week of fetal life to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies.

  5. El síndrome de Kallmann. Correlación fenotipo-genotípica.

    OpenAIRE

    García Piñero, Alfonso José

    2015-01-01

    El Síndrome de Kallmann (SK) es una enfermedad genética del desarrollo, que asocia un hipogonadismo hipogonadotrópico (HH) congénito con pérdida total (anosmia) o parcial (hiposmia) del olfato. La alteración olfativa es secundaria a la aplasia o hipoplasia de las estructuras olfatorias (bulbos, tractos y surcos cerebrales olfatorios). El HH se debe a la deficiencia en la hormona liberadora de gonadotropinas hipotalámica (GnRH) como resultado del fallo en la migración de las neuronas productor...

  6. [Non-steroidal antirheumatics: side-effects and interactions].

    Science.gov (United States)

    Felder, M

    1982-08-28

    Side effects of non-steroidal antirheumatic drugs (NSAD) may occur in any organ system, since the prostaglandins, the synthesis of which is inhibited by NSAD, play a role in numerous adverse cellular processes throughout the body. Besides these physiologic regulations there are adverse effects of NSAD, such as bone marrow aplasia, of unexplained etiology. The interactions of NSAD are of clinical relevance in drug types such as the salicylates, pyrazolons and fenamic acids (e.g. interactions with cumarin derivatives). The clinically relevant interactions of NSAD are discussed in detail. PMID:6982512

  7. A Narrow Internal Auditory Canal with Duplication in a Patient with Congenital Sensorineural Hearing Loss

    International Nuclear Information System (INIS)

    A narrow internal auditory canal (IAC) with duplication is a rare anomaly of the temporal bone. It is associated with congenital sensorineural hearing loss. Aplasia or hypoplasia of the vestibulocochlear nerve may cause the hearing loss. We present an unusual case of an isolated narrow IAC with duplication that was detected by a CT scan. In this case, the IAC was divided by a bony septum into an empty stenotic inferoposterior portion and a large anterosuperior portion containing the facial nerve that was clearly delineated on MRI

  8. Pigmentary disorders of the eyes and skin.

    Science.gov (United States)

    Que, Syril Keena T; Weston, Gillian; Suchecki, Jeanine; Ricketts, Janelle

    2015-01-01

    Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited. PMID:25704935

  9. Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle

    DEFF Research Database (Denmark)

    Pedersen, Thomas Holm; Riisager, Anders; de Paoli, Frank Vincenzo;

    2016-01-01

    permeability for Cl- ions. Thus, in resting human muscle, ClC-1 Cl- ion channels account for ∼80% of the membrane conductance, and because active Cl- transport is limited in muscle fibers, the equilibrium potential for Cl- lies close to the resting membrane potential. These conditions—high membrane conductance...... and passive distribution—enable ClC-1 to conduct membrane current that inhibits muscle excitability. This depressing effect of ClC-1 current on muscle excitability has mostly been associated with skeletal muscle hyperexcitability in myotonia congenita, which arises from loss-of-function mutations in...... the CLCN1 gene. However, given that ClC-1 must be drastically inhibited (∼80%) before myotonia develops, more recent studies have explored whether acute and more subtle ClC-1 regulation contributes to controlling the excitability of working muscle. Methods were developed to measure ClC-1 function with...

  10. A non-canonical function of telomerase RNA in the regulation of developmental myelopoiesis in zebrafish

    Science.gov (United States)

    Alcaraz-Pérez, Francisca; García-Castillo, Jesús; García-Moreno, Diana; López-Muñoz, Azucena; Anchelin, Monique; Angosto, Diego; Zon, Leonard I.; Mulero, Victoriano; Cayuela, María L.

    2014-02-01

    Dyskeratosis congenita (DC) is an inherited disorder with mutations affecting telomerase or telomeric proteins. DC patients usually die of bone marrow failure. Here we show that genetic depletion of the telomerase RNA component (TR) in the zebrafish results in impaired myelopoiesis, despite normal development of haematopoietic stem cells (HSCs). The neutropenia caused by TR depletion is independent of telomere length and telomerase activity. Genetic analysis shows that TR modulates the myeloid-erythroid fate decision by controlling the levels of the master myeloid and erythroid transcription factors spi1 and gata1, respectively. The alteration in spi1 and gata1 levels occurs through stimulation of gcsf and mcsf. Our model of TR deficiency in the zebrafish illuminates the non-canonical roles of TR, and could establish therapeutic targets for DC.

  11. Keratins and skin disease.

    Science.gov (United States)

    Knöbel, Maria; O'Toole, Edel A; Smith, Frances J D

    2015-06-01

    Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell-cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression. PMID:25620412

  12. Incidence of Congential Malformation of the Musculo-Skeletal System in New Delhi Borns in Jammu

    Directory of Open Access Journals (Sweden)

    Rajesh K.Gupta,Chande Rashmi Gupta,Deedar Singh

    2003-10-01

    Full Text Available Two thousand new live born babies were examined for various musculo-skeletal congenitalmalformations. The overall incidence of various musculo-skeletal congenitalmalformations was 13 per thousand live births. The per thousand incidence of talipes,neonatal hip dysplasia, polydactyly, spina bifida cystica, genu recurvatum, arthrogryposesmultiplex congenita and absence of fibula was 5.5, 2.5, 2.5, 2.0 1.0, 0.5, and 0.5respectively, Relationship of the incidence with environmental factors such as socioeconomicstatus, season at the time of birth, parental age, parity, presentation, maternalnutritional status and dietary habits, consanguinity, religion, urban-rural status and historyof use of drugs etc, during the pregnancy have been studied. Attempt has been made todelineate the various problems in the management of neonates born with thesemalformations.

  13. Early Osteoarthritis and Osteoporosis Due to Spondyloepiphysial Dysplasia: A Case Report - Case Report

    Directory of Open Access Journals (Sweden)

    Asylbek Kaparov

    2009-12-01

    Full Text Available Spondyloepiphysial dysplasia (SED is a rare diseases which causes delayed growth, short statue and involves the centre of the vertebral epiphysis. SED congenita and SED tarda are two different clinical forms of this disease. SED tarda with progressive arthropathy is another rare clinical appearance. SED is more frequently seen in male patients due to a genetic recessive transmission by chromosome X. The disease is characterized by a delay in the formation of epipysis, shortness of spine and extremities, kyphoscoliosis, coxa vara and platyspondily. In this case report we aimed to discuss an adolescent male SED tarda patient with early onset of osteoarthritis and osteoporosis, who was diagnosed as Scheuerman disease in the orthopedics clinic and treated with growth hormone for growth retardation in the pediatric endocrinology clinic. Important findings and labotatory investigation methods for diagnosis and treatment of this diasese will be outlined. (From the World of Osteoporosis 2009;15:79-82

  14. New described dermatological disorders.

    Science.gov (United States)

    Gönül, Müzeyyen; Cevirgen Cemil, Bengu; Keseroglu, Havva Ozge; Kaya Akis, Havva

    2014-01-01

    Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are "circumferential skin creases Kunze type" and "unusual type of pachyonychia congenita or a new syndrome"; autoinflammatory diseases include "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome," "pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome," and "pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH) syndrome"; tumors include "acquired reactive digital fibroma," "onychocytic matricoma and onychocytic carcinoma," "infundibulocystic nail bed squamous cell carcinoma," and "acral histiocytic nodules"; unclassified disorders include "saurian papulosis," "symmetrical acrokeratoderma," "confetti-like macular atrophy," and "skin spicules," "erythema papulosa semicircularis recidivans." PMID:25243162

  15. Hereditäre Ionenkanalerkrankungen des peripheren Nervensystems

    Directory of Open Access Journals (Sweden)

    Finsterer J

    2003-01-01

    Full Text Available Ionenkanalerkrankungen des peripheren Nervensystems (PNS werden durch Funktionsstörungen membrangebundener Glykoproteine, die als Ionenkanäle fungieren, hervorgerufen. Die betroffenen Ionenkanäle sind in der Muskelzellmembran (Natrium-, Kalium-, Chloridkanal, Dihydropyridinrezeptor [DHPR], in der Membran des endoplasmatischen Retikulums (Ryanodinrezeptor Typ 1 [RYR1], postsynaptisch (Acetylcholinrezeptor oder präsynaptisch (Kaliumkanäle lokalisiert. Mutationen in den entsprechenden Genen führen zu Krankheitsbildern wie Myotonia congenita (Chloridkanal, hyperkaliämisch-periodische Lähmung (HRKPP Typ 1, Paramyotonia congenita, kaliumaggravierte Myotonie, hypokaliämisch periodische Lähmung (HOKPP Typ 2 (Natriumkanal, HOKPP Typ 1, maligne Hyperthermie-Suszeptibilität (MHS Typ 5 (DHPR, MHS Typ 1, Central core disease (RYR1, Slow-channel-Syndrom (Acetylcholinrezeptor, HRKPP Typ 2, Andersen-Syndrom und hereditäre Neuromyotonie (Kaliumkanal. Abhängig vom Stadium und Verlauf finden sich bei diesen Krankheitsbildern normale klinisch-neurologische Befunde, periodische oder permanente Paresen, Myotonie, Myokymie, Muskelhypertrophie, abgeschwächte Muskeleigenreflexe, Tonussteigerung, Hypotonie, Kontrakturen, Entwicklungsstörungen der Muskulatur und nichtneurologische Manifestationen. Die Diagnose basiert auf dem klinischen Erscheinungsbild, der Serum-CK- und Kalium-Bestimmung, der nieder- und hochfrequenten repetitiven Stimulation, dem EMG, der Muskelbiopsie, dem Halothan/Koffein-Kontraktionstest und der molekulargenetischen Untersuchung. Die Therapie der Kanalerkrankungen des PNS umfaßt Physiotherapie, Kontrakturprophylaxe, konservativ-orthopädische Maßnahmen, Verabreichung von Kalium (HOKPP oder Glukose (HRKPP, Vermeidung von Kalium (HRKPP oder Glukose (HOKPP, Vermeidung von Triggern der malignen Hyperthermie und Verabreichung von Acetazolamid, Phenytoin, Carbamazepin, Mexiletin, Betamimetika oder Dichlorphenamid. Vermutlich sind mehr PNS

  16. Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

    Directory of Open Access Journals (Sweden)

    G Meola

    2009-06-01

    Full Text Available Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4 give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2+ channel give rise to hypokalemic periodic paralysis and malignant hyperthermia. Point mutations in the human skeletal chloride channel ClC-1 give rise to myotonia congenita. Point mutations in the inwardly rectifying K+ channel Kir2.1 give rise to a syndrome characterized by periodic paralysis, severe cardiac arrhythmias and skeletal alterations (Andersen’s syndrome. Involvement of the same ion channel can thus give rise to different phenotypes. In addition, the same mutation can lead to different phenotypes or similar phenotypes can be caused by different mutations on the same or on different channel subtypes. Bearing in mind, the complexity of this field, the growing number of potential channelopathies (such as the myotonic dystrophies, and the time and cost of the genetic procedures, before a biomolecular approach is addressed, it is mandatory to apply strict diagnostic protocols to screen the patients. In this study we propose a protocol to be applied in the diagnosis of the hereditary muscle channelopathies and we demonstrate that muscle biopsy studies and muscle cell cultures may significantly contribute towards the correct diagnosis of the channel involved. DNAbased diagnosis is now a reality for many of the channelopathies. This has obvious genetic counselling, prognostic and therapeutic implications.

  17. Ectrodactilia em cão (Canis domestica Ectrodactilia in dog (Canis domestica

    Directory of Open Access Journals (Sweden)

    Daniela Oliveira

    2002-12-01

    Full Text Available O presente trabalho relata o caso de uma cadela sem raça definida, adulta, com deformidade na região distal do membro torácico esquerdo, a qual consistia de duplicidade do osso acessório do carpo, aplasia do primeiro carpiano, ausência dos ligamentos interósseos entre o terceiro e o quarto dígitos, alterações ósseas no quarto dígito e presença de um dígito supranumerário incompleto adjacente ao quarto dígito. Após análise dos defeitos concluiu-se tratar de uma malformação congênita, hereditária em cães, denominada ectrodactilia, associada à existência de um dígito supranumerário.This paper describes a case of an adult mongrel bitch with a deformity in the distal area of the left forelimb, which was based on duplicity of the accessory carpal bone, aplasia of the first carpal bone, nonexistence of the interosseus ligament between digits 3 and 4, bony alterations in digit 4 and presence of an incomplete supernumerary digit adjacent to digit 4. After analysis of defects it was concluded to be a hereditary congenital malformation named ectrodactyly, associated to the existence of a supernumerary digit.

  18. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    Directory of Open Access Journals (Sweden)

    Jonathan Lévy

    2013-01-01

    Full Text Available Ectrodactyly or split hand and foot malformations (SHFMs are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

  19. Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism.

    Science.gov (United States)

    Lévy, Jonathan; Jouannic, Jean-Marie; Saada, Julien; Dhombres, Ferdinand; Siffroi, Jean-Pierre; Portnoï, Marie-France

    2013-01-01

    Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks' gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy. PMID:23401811

  20. SÍNDROME DE MAYER-ROKITANSKY-KÜSTER-HAUSER TIPO II: REPORTE DE UN CASO Y REVISIÓN DE OPCIONES TERAPÉUTICAS

    Directory of Open Access Journals (Sweden)

    Héctor Silva Cárcamo

    2016-07-01

    Full Text Available El Síndrome de Mayer-Rokitansky-Küster-Hauser, es una anomalía poco frecuente, causada por aplasia de conductos de Müller, se caracteriza por ausencia congénita de vagina, alteraciones uterinas (variedad tipo I, acompañada de alteraciones renales y/o esqueléticas (variedad tipo II, con fenotipo femenino y función ovárica normal. Su incidencia es 1 en 4000-5000 mujeres. Caso clínico: Segundo caso reportado en Honduras, paciente femenina, 17 años de edad, acude por presentar amenorrea primaria, dolor pélvico intenso, sin atenuantes coincidiendo una vez al mes. Al examen físico encontramos presentes características sexuales secundarias, genitales femeninos externos normales, ausencia total del conducto vaginal que imposibilita realizar tacto vaginal. Se realizan estudios de imagen como USG, pielograma intravenoso reportando: útero didelfo infantil y ectopia renal. La laparotomía exploratoria revela alteraciones renales y trompas rudimentarias. Discusión: El tratamiento indicado es la colpopoiesis o neovagina con diferentes métodos quirúrgicos o no quirúrgicos para el completo desarrollo sexual y psicológico de la paciente. Palabras Clave: Amenorrea, conductos de Müller, Aplasia

  1. [Significance of viruses in maternal-child morbidity].

    Science.gov (United States)

    Mena Castro, E

    1990-01-01

    In developing countries infectious diseases continue to be the primary cause of morbidity in children and they are also responsible for an increasing number of untimely deaths. Viral, bacterial, mycotic, and parasitic agents are responsible for various pathological conditions that are present in the most vulnerable groups of the population. Poverty, crowding, lack of access to potable water, low level of education, and inadequate disposition of excreta provide an ideal environment for infectious agents. During human history viruses have represented an important group of disease-producing agents, both in mothers and children. The teratogenic, immunogenic, and oncogenic capabilities of many viruses has been established, and every so often new activities and characteristics of these agents are identified in relation to epidemiology, physiology, and pathogenics. An interesting work concerning parvovirus B19 by Drs. Mateo and Polanco was published in the Archivos Dominicanos de Pediatria. This virus appears to be responsible for infectious erythema and particularly for the medullar aplasia crisis observed in many chronic hemolytic anemias. For the Dominican Republic this discovery is of interest because of the relatively high prevalence of falciform anemia; this disease most often occurs as hereditary anemia, and the medullar aplasia crisis is one of the forms of expression of this disease. PMID:12291425

  2. Pectus excavatum, pectus carinatum and other forms of thoracic deformities

    Directory of Open Access Journals (Sweden)

    Saxena Amulya

    2005-01-01

    Full Text Available This review article covers the spectrum of congenital thoracic wall deformities along with their historical background. Willital′s classification divides these deformities into 11 types - funnel chest (4 types, pigeon chest (4 types, and combination of funnel and pigeon chest, chest wall aplasia and cleft sternum. Records of patients at our center comprised 90% depression deformities, 6% protrusion deformities, 3% combined depression-protrusion deformities and 1% other forms. Mild forms of abnormalities warrant the wait- and-watch approach during the first 4-5 years. The deformities manifest primarily during the pubertal spurt often with rapid progression with subjective complaints like dyspnea, cardiac dysthesia, limited work performance and secondary changes. Operative correction in young adults is more favorable in mild cases. The Willital technique has been the standard technique for the correction of pectus excavatum, pectus carinatum and other combined forms of deformities at our center with excellent long term results. The Nuss procedure and the Pectus Less Invasive Extrapleural Repair (PLIER technique for pectus excavatum and pectus carinatum have also been described in this article. Surgical correction for Poland′s syndrome is reserved for patients with severe aplasia of the ribs with major depression deformity. Sternal defects including various types of ectopia cordis are discussed. Even after surgical correction, there is significant reduction in the total capacity and inspiratory vital capacity of the lungs, probably a result of the decreased compliance of the chest wall. However, the efficiency of breathing at maximal exercise improves significantly after operation.

  3. CT characterization of developmental variations of the paranasal sinuses in cystic fibrosis

    International Nuclear Information System (INIS)

    Purpose: To describe variations of paranasal sinus development in patients with cystic fibrosis (CF) and in non-CF patients examined for inflammatory sinonasal disease. We focused on anatomic variants that predispose to orbital and cerebral penetration during functional endoscopic sinus surgery (FESS), e.g. hypoplasia of the maxillary sinus and low ethmoid roof. Material and Methods: One hundred and sixteen CF patients (3-54 years, median 18) and 136 control patients (7-51 years, median 31) were examined with coronal CT of the paranasal sinuses. CF patients were grouped according to number of confirmed mutations: CF-2 (n=70), CF-1 (n=32), CF-0 (n=14). CT images were evaluated with respect to paranasal sinus development, pneumatization variants and bony variants. Results: Frontal sinus aplasia and maxillary, ethmoid, and sphenoid sinus hypoplasia were markedly more frequent in CF-2 than in control patients. No CF-2 patient had pneumatization variants such as Haller cells or concha bullosa. Low ethmoid roof was seen in 30% of CF-2 children, but in no control children. CF-1 and CF-0 groups had prevalences of aplasia and hypoplasia intermediate to that of CF-2 and control patients. Conclusion: Genetically verified CF patients had less developed sinuses, lacked pneumatization variants, and more often had anatomic variants that predispose to complications during FESS. Normally developed sinuses and pneumatization variants in some genetically unverified CF patients (CF-1, CF-0) suggest that these patients may be erroneously diagnosed

  4. Infecção por Chryseobacterium indologenes: relato de um caso Chryseobacterium indologenes infection: a case report

    Directory of Open Access Journals (Sweden)

    Renata de Souza Ferreira

    2010-03-01

    Full Text Available Relatamos um caso de infecção por Chryseobacterium indologenes, presente na cultura de aspirado traqueal em paciente sob ventilação mecânica invasiva, revisando os aspectos epidemiológicos, microbiológicos e o tratamento na unidade de terapia intensiva. Paciente do sexo masculino, 30 anos, internado com quadro de aplasia de medula idiopática e neutropenia febril foi transferido para a unidade de terapia intensiva com quadro de broncopneumonia e sepse grave de origem pulmonar. A maioria dos casos já relatados de pacientes com infecção por Chryseobacterium indologenes apresentavam patologias graves associadas e infecções polimicrobianas que podem dificultar a interpretação da efetividade da terapia antimicrobiana contra este agente.A case of Chryseobacterium indologenes infection is reported, identified in an invasive mechanic ventilation patient's tracheal aspiration material. Epidemiological, microbiological, and intensive care unit therapy aspects are discussed. The patient was a 30 years-old male, admitted with idiopathic medullary aplasia and febrile neutropenia, referred to the intensive care unit with severe bronchopneumonia and sepsis of pulmonary origin. Most of the previously reported Chryseobacterium indologenes infection cases were associated with severe diseases and polymicrobial infections which could make difficult interpreting antimicrobial therapy options against this agent.

  5. Combined use of frontal sinus and nasal septum patterns as an aid in forensics: A digital radiographic study

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    Pradhuman Verma

    2015-01-01

    Full Text Available Background: Skull radiographic examination is a potentially useful procedure for the personal identification in cases where fragments of skull persist with no likelihood of identification based on dental arch. Aims: The study was to determine the uniqueness and reliability of combined frontal sinus (FS and nasal septum (NS patterns as observed on posterioanterior (PA cephalograms for personal identification. Materials and Methods: The randomly selected 149 digital PA cephalograms taken on Kodak 8000C Digital Panoramic and Cephalometric system were evaluated for patterns of FS and NS. Also the distribution of lobulations, area, and ratio of height/width of FS was calculated. The data obtained was statistical analyzed using Pearson′s coefficient correlation. Results: FS symmetry was observed in 78.5% and asymmetry in 7.3% subjects. Bilateral aplasia was noticed in 5.3% and unilateral aplasia in 8.7% of subjects. The total lobulation of FS was noted more in males on both sides while center lobes were observed slightly more in females. The straight NS was maximally seen followed by reverse sigmoid. The mean ratio of width/height of FS was observed more in males and highly significant correlation was observed with both sexes. The mean area of FS was noted more in males. There was significant correlation found between patterns of NS and FS except in right dominated asymmetrical FS. Conclusion: The combined use of FS and NS patterns could be used as method for identification by exclusion in forensics.

  6. Thermal stability of nanocrystalline W-Ti diffusion barrier thin films

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Nanocrystalline W-Ti diffusion barrier thin films with different phase structures and Cu/barrier/Si multilayer structures were deposited on p-type Si(100) substrates by DC magnetron sputtering.These films were annealed at different temperatures for 1 h.The diffusion barrier properties and thermal stability were studied using four-probe tester(FPP),XRD,AFM,XPS,FESEM,and HRTEM.The experimental results showed that the films were stable up to 700℃.When the annealing temperature was increased,the Cu and Ti atoms began to react and CuTi3 was formed.In addition,the high resistance Cu3Si was formed due to inter-diffusion between the Si and Cu atoms which made the surface rougher and caused the sheet resistance to increase abruptly.At the same time,failure mechanism of the nanocrystalline W-Ti diffusion barrier thin films during annealing process was also discussed.

  7. The structural and magnetic properties of Fe{sub 2−x}NiGa{sub 1+x} Heusler alloys

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Y.J., E-mail: ghwu@aphy.iphy.ac.cn [School of Materials Science and Engineering, Hebei University of Technology, Tianjin 300401 (China); Xi, X.K. [Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190 (China); Meng, F.B. [School of Materials Science and Engineering, Hebei University of Technology, Tianjin 300401 (China); Wang, W.H.; Liu, E.K.; Chen, J.L.; Wu, G.H. [Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190 (China)

    2015-04-01

    The structural and magnetic properties of Fe{sub 2−x}NiGa{sub 1+x} (x=0~1) Heusler alloys have been investigated by experimental observation and calculation. In this system, a structural transition is found as a function of composition. A higher Ga content leads to an atomic-order transformation from Hg{sub 2}CuTi to B2. The magnetization decreases due to the dilution effect and the competition between the magnetic interactions and enhanced covalent bonding. The calculation of electronic structure indicates that adding Ga enhances the p–d orbital hybridization between the transition-metal and main-group-element atoms at nearest-neighbor distance. A magnetic and a structural phase diagram have been obtained in which the composition dependences of the lattice constant, the ordering temperature and the Curie temperature show cusps at a critical composition of x=0.32.

  8. The Use of Calcium Channel Blockers in Skin Diseases

    Directory of Open Access Journals (Sweden)

    Özge Uzun

    2013-05-01

    Full Text Available Calcium channel blockers are a group of drugs often used to treat cardiovascular diseases, such as hypertension, angina, peripheral vascular disorders and some arrhythmias. These drugs may suppress the growth and proliferation of vascular smooth muscle cells and fibroblasts, and inhibit the synthesis of extracellular-matrix proteins,such as collagen, fibronectin, proteoglycans. Some calcium channel blockers also have immunomodulatory or dysregulatory effects on lymphocytes and can suppress superoxide generation and phagocytic activity of neutrophils. Moreover, mast cell degranulation and platelet aggregation may also be impaired. On account of these properties, calcium channel blockers have also been used for the prevention and treatment of various dermatologic diseases. In this review, we evaluated the use of calcium channel blockers in various dermatologic diseases, such as Raynaud’s phenomenon, chilblains, chronic anal fissures, vulvodynia, keloids and burn scars, calcinosis cutis, and leiomyoma.

  9. Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Mentzel, H.-J. [Institute of Diagnostic and Interventional Radiology, University of Jena (Germany)]|[Institute of Diagnostic and Interventional Radiology, Bachstrasse 18, D-07 740 Jena (Germany); Seidel, J.; Vogt, L. [Department of Paediatrics, University of Jena, Friedrich-Schiller-Universitaet Jena, Jena/Thueringen (Germany); Vogt, S.; Kaiser, W.A. [Institute of Diagnostic and Interventional Radiology, University of Jena (Germany)

    1999-01-01

    We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysplasia which includes occipital horns, broad clavicles, deformed radii, ulnae and humeri, narrow rib cage, undercalcified long bones and coxa valga. Distinctive features common to all patients are unusual facial appearance, hypermobility of finger joints, limitation of extension of elbows, chronic diarrhoea and genitourinary abnormalities. In this case report we describe the difficulties encountered in the diagnostic management of patients with EDS-related vascular lesions. (orig.) With 5 figs., 2 tabs., 12 refs.

  10. Utility of polymerase chain reaction as a diagnostic tool in cutaneous tuberculosis

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    Padmavathy L

    2003-05-01

    Full Text Available Background: Differentiation of cutaneous tuberculosis from other infective granulomas of the skin is difficult due to paucity of the organisms in tissue biopsies. Polymerase chain reaction (PCR is a newer technique to identify the DNA of Mycobacterium tuberculosis in the tissues. Aim: We examined the utility of PCR as a tool for rapid diagnosis of cutaneous tuberculosis especially in cases negative by ZN staining and culture. Material and Methods: Twenty five random skin biopsies from patients with various types of cutaneous tuberculosis were subjected to PCR. Results: An overall positivity of 64% was observed, which is comparable to other series. Seventy five percent of lupus vulgaris cases, 62.2% of tuberculosis verrucosa cutis and 50% of scrofuloderma cases showed PCR positivity. Conclusion: Though useful, the cost and the technique involved limit the use of PCR in developing countries like ours.

  11. Prevalência de lesões cutâneas actínicas em pacientes com carcinoma basocelular do segmento cefálico: um estudo caso-controle Prevalence of actinic skin lesions in patients with basal cell carcinoma of the head: a case-control study

    Directory of Open Access Journals (Sweden)

    Valquíria Pessoa Chinem

    2012-04-01

    Full Text Available OBJETIVO: Avaliar a preval��ncia de lesões cutâneas actínicas em portadores de carcinoma basocelular do segmento cefálico. MÉTODOS: Foi conduzido estudo tipo caso-controle. Os casos, constituídos por pacientes com carcinoma basocelular sólido, primário, menor que dois centímetros, no segmento cefálico; e controles, por pacientes com outras dermatoses. Foram analisadas variáveis constitucionais, comportamentais e lesões actínicas. RESULTADOS: Avaliaram-se 120 casos e 360 controles. Mílio facial (OR = 2,3, leucodermia puntacta de membros superiores (OR = 2,9 e cutis romboidalis nuchae (OR = 1,8 associaram-se à neoplasia independentemente das demais variáveis, sugerindo um fenótipo de risco. Houve ainda associação com fenótipos claros, genética familiar e exposição solar cumulativa. Queimadura solar, tabagismo e alcoolismo não foram identificados como fatores de risco. O uso de fotoprotetores não evidenciou proteção; porém, o grupo controle era composto por pacientes dermatológicos, aos quais são indicados fotoprotetores regularmente. CONCLUSÃO: Lesões actínicas foram mais prevalentes em portadores de carcinoma basocelular sólido do segmento cefálico que em controles, especialmente mílio, cutis romboidalis nuchae e leucodermia puntacta, independentemente dos demais fatores de risco conhecidos.OBJECTIVE: To evaluate the prevalence of actinic skin lesions in patients with basal cell carcinoma of the head. METHODS: A case-control study was carried out. Cases were patients with primary, solid basal cell carcinoma of the head, less than two centimeters in diameter; and as controls, patients with other dermatoses. Constitutional and behavioral variables were analyzed, as well as actinic lesions. RESULTS: One hundred twenty cases and 360 controls were evaluated. Facial milia (OR = 2.3, leukoderma punctata of the upper limbs (OR = 2.9, and cutis rhomboidalis nuchae (OR = 1.8 were associated with neoplasms regardless

  12. Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae

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    Ilteris Oguz Topal

    2014-04-01

    Full Text Available Keratosis follicularis spinulosa decalvans (KFSD is a keratinization disorder characterized by diffuse follicular hyperkeratosis, progressive cicatricial alopecia, corneal dystrophy, and photophobia. Acne keloidalis nuchae (AKN is a syndrome of chronic folliculitis that manifests as follicular-based pustules and papules on the occipital region of the scalp, which may eventually lead to cicatricial alopecia. Various diseases such as cutis laksa, deafness, aminoaciduria, mental retardation, and atopy have been reported to be associated with KFSD, but AKN is a rare cutaneous manifestation. Herein, we report the case of a patient with KFSD associated with AKN. He was presented to our clinic with follicular-based pustules and papules that had been progressively advancing for five years that were now manifesting as cicatricial alopecia.

  13. Characterization of copper base alloys obtained by mechanical alloying

    International Nuclear Information System (INIS)

    The micro and nano structure of mechanical alloys of Cu-Al, Cu-V and Cu-Ti obtained by reactive milling, using an Attritor mill, was analyzed by differential scanning calorimetry (DSC), X-ray diffraction (XRD) and transmission electron microscope (TEM). In order to study the evolution of the alloys during the manufacturing process and during the period of service, the DSC and XRD were done before the mechanical milling, after 30 hours of milling and after hot extrusion of the alloyed powders. Using the Williamson-Hall and Klug-Alexander methods the size of the crystallites and the density of the dislocations in the prepared alloys were evaluated. In all the milled powder cases, the grain and crystallite size was found to be nanometric, the dispersoids were also nanometric and there was texture in the copper planes (220), in the cases of the milled Cu- Ti and Cu-V powders (au)

  14. Medical image of the week: CREST plus ILD

    Directory of Open Access Journals (Sweden)

    Oliva I

    2013-06-01

    Full Text Available A 60 year old female with a history of fibromyalgia presented with dyspnea and skin changes, predominantly on the hands. Physical exam and imaging showed classic findings of limited cutaneous systemic sclerosis (scleroderma CREST syndrome. Calcinosis cutis (Figure 1A, Raynaud’s (not shown but endorsed by the patient, Esophageal dysmotility (Figure 1B, dilated esophagus, Sclerodactyly (Figure 1C, and Teleganectasias (Figure 1D were all present. Ground glass opacities were seen predominantly in the bilateral lower lung zones, associated with increased reticular markings (Figure 2A, and traction bronchiectasis (Figure 2B. Pulmonary involvement is noted in the majority of scleroderma patients. Interstitial lung disease (ILD is common and often portends a poor prognosis.

  15. Bonding of Cf/SiC composite to Invar alloy using an active cement, Ag-Cu eutectic and Cu interlayer

    Science.gov (United States)

    Lei, Zhao; Xiaohong, Li; Jinbao, Hou; Qiang, Sun; Fuli, Zhang

    2012-10-01

    The interfacial microstructures and mechanical properties of the joints formed by active cement added brazing in vacuum of Cf/SiC composite to Invar alloy, using Ag-Cu eutectic alloy and pure copper foil as braze alloy and interlayer respectively, were investigated. CuTi, Cu4Ti3, Fe2Ti and the reaction layer of TiC and Si were the predominant components at the joint interface. The maximum shear strength of the joint was 77 MPa for brazing at 850 °C for 15 min. The results show that active cement added brazing in vacuum using Ag-Cu eutectic alloy and Cu interlayer can be used successfully for joining Cf/SiC composites to Invar alloy.

  16. [Botulinum toxin in disabling dermatological diseases].

    Science.gov (United States)

    Messikh, R; Atallah, L; Aubin, F; Humbert, P

    2009-05-01

    Botulinum toxin could represent nowadays a new treatment modality especially for cutaneous conditions in course of which conventional treatments remain unsuccessful. Besides palmar and plantar hyperhidrosis, botulinum toxin has demonstrated efficacy in different conditions associated with hyperhidrosis, such as dyshidrosis, multiple eccrine hidrocystomas, hidradenitis suppurativa, Frey syndrome, but also in different conditions worsened by hyperhidrosis such as Hailey-Hailey disease, Darier disease, inversed psoriasis, aquagenic palmoplantar keratoderma, pachyonychia congenital. Moreover, different cutaneous conditions associated with sensitive disorders and/or neurological involvements could benefit from botulinum toxin, for example anal fissures, leg ulcers, lichen simplex, notalgia paresthetica, vestibulitis. Endly, a case of cutis laxa was described where the patient was improved by cutaneous injections of botulinum toxin. PMID:19576479

  17. Estados Alterados. Matrimonio y vida maridable en Charcas temprano-colonial

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    Presta, Ana María

    2011-01-01

    Full Text Available The conquest of America was a male migratory enterprise. Despite of their condition of married men, Spaniards emigrated alone. Their wives lived under diffi cuties while waiting to join them and became elderly waiting while raising children without money to face life. Marriage rules imposed the vida maridable that limited in the letter the absence of husbands who often vanished looking for bettering off and comming back rich to the homeland. The mandatory convivencia offered wives the possibility to placing claims to get their husbands back home or to obtain their passage to the Indies. Behind the unlucky search of the husbands, the unconsumated marriages, and the unmeasurable distances, crimes like bigamy and adultery where hidden and commited, as explained along these pages.

  18. « Si l’on construisait à nouveau des barricades » : l’image de la Révolution française dans les écrits de Georg Heym

    OpenAIRE

    Godé, Maurice

    2014-01-01

    Il ressort des écrits de G. Heym inspirés par la Révolution française qu’il trouvait dans ce matériau brut des éléments lui permettant d’objectiver une donnée majeure de sa personnalité : l’oscillation entre une conception fataliste de l’existence et des accès d’exaltation aussi brefs qu’intenses. Si le fatalisme – renforcé notamment par la lecture de La Mort de Danton de Büchner – et les images macabres sont omniprésents dans une première phase (cf. les sonnets qui ont pour thème les exécuti...

  19. [Hereditary gelsolin amyloidosis--40 years of Meretoja disease].

    Science.gov (United States)

    Kiuru-Enari, Sari; Haltia, Matti

    2010-01-01

    Hereditary gelsolin amyloidosis is an autosomally dominantly inherited systemic disease, first described in 1969 by the Finnish ophthalmologist Jouko Meretoja. The estimated number of disease carriers in Finland is almost 1 000, and the disease has subsequently been found in many other countries as well. It's typical initial manifestation is lattice corneal dystrophy, detected at biomicroscopic examination of the eye by the age of 25 to 30 years, followed by slowly progressing cranial neuropathy with bilateral facial palsy, polyneuropathy and generalized cutis laxa. Meretoja's disease is caused by mutations of the gelsolin gene, leading to the production and aberrant processing of variant gelsolin and deposition of its fragments in various tissues in the form of amyloid fibrils. PMID:20597346

  20. Properties of MgB2 wires made by internal magnesium diffusion into different boron powders

    Science.gov (United States)

    Kováč, P.; Hušek, I.; Rosova, A.; Kulich, M.; Melišek, T.; Kopera, L.; Brunner, B.

    2015-09-01

    Different boron powders were used for MgB2 wires manufactured by internal magnesium diffusion. The structure of the MgB2 core, critical temperature and critical currents of Cu/Ti sheathed wires differing only in boron powder were analyzed and compared. It was found that the particle size and purity of boron powders influence the creation of the MgB2 phase and, consequently, also considerably influence its superconducting properties. The highest critical current density in the low external field was measured for wire with a boron purity of 98.5% produced by Pavezyum. It was used also for stabilized multi-core MgB2 wire with high engineering current densities in low magnetic fields at 20 K, which may be attractive for some low field applications, e.g. high-power wind generators.