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Sample records for aplasia cutis congenita

  1. The association of aplasia cutis congenita with therapy of maternal thyroid disease.

    Science.gov (United States)

    Kalb, R E; Grossman, M E

    1986-09-01

    Aplasia cutis congenita, the localized absence of skin at birth, usually is an isolated scalp defect. We examined an infant with aplasia cutis congenita associated with maternal Grave's disease and the use of methimazole during pregnancy. This association was reported twice before. It has certain implications with respect to therapy of pregnant hyperthyroid women. PMID:3774652

  2. 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

  3. 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.

  4. 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.

  5. Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

    Science.gov (United States)

    Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto

    2006-04-01

    A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS. PMID:16586236

  6. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.

    Science.gov (United States)

    Ma, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

  7. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis*

    Science.gov (United States)

    MA, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. PMID:26312661

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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

  14. 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. ...

  15. 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.

  16. Generalised cutis laxa

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    Mukhi Sanjay

    2002-01-01

    Full Text Available A 44 - year -old man presented with generalised progressive lax skin of 14 years duration associated with dysphagia, joint pains and hoarseness of voice. Examination revealed "blood hound" like facies, lox skin with loss of elasticity, dilated tortuous superficial vessels over extremities and back. Systemic involvement noted were oesophageal and pharyngeal diverticuli, inguinal hernia and dermatochalasis. Skin biopsy using Verhoeff Van Gieson′s stain was suggestive of cutis laxa.

  17. Plate-like osteoma cutis.

    Science.gov (United States)

    Orme, Charisse M; Hale, Christopher S; Meehan, Shane A; Long, Wendy

    2014-12-16

    Osteoma cutis is the aberrant development of bone within the skin. The bone formation may be de novo (primary) or result from an injury to the skin (secondary). Here we present a healthy 53-year-old man with no known abnormalities in calcium or phosphate metabolism with plate-like osteoma cutis of the scalp. Plate- or plaque-like osteoma cutis was initially described as a congenital condition but has now been reported several times in the literature as an idiopathic process that occurs in adults. Treatment options are limited and are only required if the lesion is bothersome to the patient.

  18. 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 ...

  19. 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

  20. 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

  1. 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.

  2. 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...

  3. Bullous leukemia cutis mimicking facial cellulitis*

    Science.gov (United States)

    Caldato, Luciana de Sales; Britto, Juliana de Sousa; Niero-Melo, Ligia; Miot, Hélio Amante

    2016-01-01

    Bullous leukemia cutis is an uncommon clinical manifestation of cutaneous infiltration by leukemic cells, from B-cell chronic lymphocytic leukemia. We present the case of a 67-year-old, female, chronic lymphocytic leukemia patient. She was taking chlorambucil and developed facial edema with erythema and warmth, misjudged as facial cellulitis. Two days later, she developed bullous lesions in the arms, legs, neck and face. The histopathology of facial and bullous lesions confirmed leukemia cutis. All lesions disappeared following the administration of rituximab combined with cycles of fludarabine and cyclophosphamide. Although soft tissue infections are common complications in patients undergoing chemotherapy, leukemia cutis can also resemble cellulitis. PMID:27192532

  4. CASE REPORT: TUBERCULOSIS VERRUCOSA CUTIS

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    Padmaprasad

    2013-10-01

    Full Text Available AB STRACT: Tuberculosis verrucosa cutis, otherwise called as warty tuberculosis is a disease due to acquired infection from an exogenous source in a person who has moderate to high immunity for tuberculosis. Lesions are frequently reported on hands and lower limbs. It is an occupational hazard in people who handle tuberculous tissues during work, example: Veterinarians and mortuary at tenders, farmers, butchers, anatomy at tenders (anatomist’s warts. Auto inoculation by sputum in a pulmonary tuberculosis pati ent can cause the disease. Clinical features are variable, but verrucosity always forms. Lesions are usually single indurated, verrucous plaque with serpigenous edge which may show some scar at centre with keloidal changes and are seen at trauma prone site s. Histopathology shows psedoepitheliomatous hyperplasia with infiltration of plasma cells and sometimes with caseating granuloma. Tissues rarely show positivity to bacilli on staining. Treatment of the disease is by anti TB therapy which will completely resolve the lesion.

  5. 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....

  6. Idiopathic calcinosis cutis of nasal dorsum

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    Shrinath D.P Kamath

    2012-01-01

    Full Text Available A 23-year-old lady presented with a slowly progressing firm mass on the nasal dorsum since 8 months. Her biochemical, haematological and collagen vascular disease screening tests were normal. Radiographs of the nasal bones showed a subcutaneous calcifying lesion with no evidence of nasal bone erosion. A diagnosis of idiopathic calcinosis cutis (ICC was made. The mass was excised and soft tissue defect was augmented with silicone prosthesis. The histopathology with the haematoxylin and eosin staining and von Kossa stain confirmed the diagnosis of calcinosis cutis. This is an unusual presentation of ICC involving the nasal dorsum requiring surgery and nasal dorsal augmentation with silicone prosthesis.

  7. Acquired plate-like osteoma cutis.

    Science.gov (United States)

    Vashi, Neelam; Chu, Julie; Patel, Rishi

    2011-10-15

    Plate-like osteoma cutis is a rare disorder that has been historically classified as a congenital syndrome. It has a possible relationship to a mutation in the gene (GNAS1) that encodes the α-subunit of the stimulatory G protein, which regulates adenyl cyclase activity. We report a case of extensive plaque-like masses on the scalp and face with no abnormalities in calcium or phosphate metabolism and no preceding inflammatory cutaneous conditions. With less than ten reported cases, to our knowledge, this is one the few cases of acquired plate-like osteoma cutis described in the literature.

  8. Pachyonychia congenita with late onset (PC tarda).

    Science.gov (United States)

    Sravanthi, A; Srivalli, P; Gopal, K V T; Rao, T Narayana

    2016-01-01

    Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed hyperkeratotic plaques over both the soles, palmoplantar hyperhidrosis and yellowish discoloration, wedging with subungual hyperkeratosis of all the nails. Follicular hyperkeratotic papules and steatocystoma multiplex were also observed over the scalp and face. The patient had history of natal teeth and on dental examination, lower central incisors were absent. All cutaneous changes in our case had manifested first in the 2(nd) decade except for natal teeth. All the above features suggested the diagnosis of pachyonychia congenita with late onset (PC tarda), which is an infrequently reported rare variant. PMID:27559502

  9. Pachyonychia congenita with late onset (PC tarda

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    A Sravanthi

    2016-01-01

    Full Text Available Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed hyperkeratotic plaques over both the soles, palmoplantar hyperhidrosis and yellowish discoloration, wedging with subungual hyperkeratosis of all the nails. Follicular hyperkeratotic papules and steatocystoma multiplex were also observed over the scalp and face. The patient had history of natal teeth and on dental examination, lower central incisors were absent. All cutaneous changes in our case had manifested first in the 2nd decade except for natal teeth. All the above features suggested the diagnosis of pachyonychia congenita with late onset (PC tarda, which is an infrequently reported rare variant.

  10. Pachyonychia congenita: A rare genodermatosis

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    Puneet Agarwal

    2013-01-01

    Full Text Available Pachyonychia congenita (PC is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis in palms and soles with maceration and malodour since childhood. She had a positive family history with father and grandfather affected but less severely. Microscopy and culture of nail clippings and scrapping were done to rule out fungal infection. On biopsy acanthotic epidermis, parakeratosis, orthokeratosis were seen. No evidence of any associated malignancy was found after thorough workup. She was diagnosed as PC Type 1. She was put on topical steroids and orally on acetretin 25 mg OD. Paring of the nails was done too reduce the thickness of nails & to provide symptomatic relief. She was on a regular treatment for 3-4 months and showed some improvement in the form of reduced palmoplantar hyperkeratosis and reduced oral punctate keratosis but was later lost on followup. She showed no adverse effect to therapy during this period. This case is being reported because of its rarity.

  11. 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

  12. 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.

  13. Multiple myeloma associated with acquired cutis laxa.

    Science.gov (United States)

    Cho, S Y; Maguire, R F

    1980-08-01

    Acquired cutis laxa is a rare disorder characterized by diffuse laxity of the skin and loss of connective tissue support with involvement of the lungs, gastrointestinal tract, pelvic organs, and aorta. The case report presented herein describes a forty-six year old woman with multiple myeloma and cutis laxa. Her history included several severe allergic reactions and the gradual development of lax skin, loss of connective tissue support throughout the body, and emphysema. At autopsy, multiple myeloma, diffuse laxity of the skin, and panacinar emphysema were found. The amount of elastic fiber in the skin, lungs, and aorta was decreased and showed abnormal fragmentation. Results of direct immunofluorescence study demonstrated IgG bound to dermal elastic fibers. Speculation regarding an immunologic etiology of the elastic tissue abnormality is presented herein.

  14. 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...

  15. Osteoma cutis: informe de un caso

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    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.

  16. Unilateral optic nerve aplasia associated with microphthalmos

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    Stanković-Babić Gordana

    2012-01-01

    Full Text Available Intraduction. Optic nerve aplasia is a rare developmental anomaly characterised by the congenital absence of the optic nerve, central retinal vessels and retinal ganglion cells that is seen most often in a unilaterally malformed eye. Case report. We reported a girl with a very rare anomaly of the eye, unilateral aplasia of the optic nerve and microphthalmia. We carried out a complete ophthalmological examination, A- and Bscan ultrasonography, magnetic resonance imaging (MRI of the orbit and brain, pediatrician, neurological examinations and karyotype determination. The examined child was a third child from the third regular pregnancy, born at term (39 GS, BM 3100 g. Family ocular history was negative. The right corneal diameter was 7.5 mm and left 10 mm. On dilated fundus examination, the right eye showed the absence of optic nerve and central retinal vessels. B-scan echography showed a small right globe (axial length 13.80 mm, normal size left globe (axial length 18.30 mm and the absence of optic nerve on the right eye. Physical and neurological findings and karyotype was normal. MRI of the orbits and brain marked asymmetry of globe size and unilateral absence of the optic nerve. The patient is under the control of a competent ophthalmologist and prosthetic. Conclusion. Further aesthetic and functional development of a young person is the primary goal in tracking this rare congenital optic nerve anomalies in the malformed eye.

  17. Calcinosis cutis secondary to facial acne vulgaris: A rare complication.

    Science.gov (United States)

    Sahu, Srimanta Kumar; Gupta, Nikhil; Vohra, Suruchi

    2015-12-01

    Acne vulgaris is a common dermatological disease commonly affecting the adolescent and young adults. It is characterized by the presence of pleomorphic skin lesions such as comadones, papules, pustules, and nodules. The common complications are postacne hyperpigmentation and scarring causing psychological impact. Calcinosis cutis is the pathologic deposition of insoluble calcium salt in the skin and subcutaneous tissue. Calcinosis cutis following acne vulgaris is rarely reported in the literature. We report a case of calcinosis cutis in acne vulgaris in a 55-year-old man.

  18. 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.

  19. 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.

  20. 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 ...

  1. 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...

  2. Acquired pure megakaryocytic aplasia successfully treated with cyclosporine

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    Halima El Omri

    2010-12-01

    Full Text Available Acquired pure megakaryocytic aplasia is a rare hematological disorder characterized by thrombocytopenia with absent or markedly reduced megakaryocytes in the bone marrow. We report a case of a 25-year-old male diagnosed as acquired pure megakaryocytic aplasia. Treatment with prednisone and intravenous immunoglobulin failed, but he was successfully treated with cyclosporine, with complete remission after 90 days and normal platelet count maintained thereafter.

  3. Antenatal imaging of cutis verticis gyrata

    Energy Technology Data Exchange (ETDEWEB)

    Kennedy, Ana [Starship Hospital, Department of Paediatric Cardiology, Auckland (New Zealand); Perry, David [Starship Children' s Hospital, Radiology Department, Auckland (New Zealand); Battin, Malcolm [Auckland City Hospital, Newborn Services, National Women' s Health, Auckland (New Zealand); University of Auckland, Department of Paediatrics, Auckland (New Zealand)

    2008-05-15

    Cutis verticis gyrata (CVG) is a skin condition characterized by thick folds and deep furrows, resembling a cortical gyral pattern. There is a recognized but rare association with Noonan syndrome. We report the antenatal imaging, including three-dimensional surface-rendered sonography and MRI, of a fetus with CVG who was subsequently diagnosed with Noonan syndrome. The case illustrates the antenatal appearances of congenital CVG and the potential yield of antenatal imaging in excluding a major central nervous system anomaly. This is important because without prior knowledge of this condition and its imaging characteristics, it is possible to get a false impression of an underlying skull defect on mid-trimester imaging. (orig.)

  4. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    Energy Technology Data Exchange (ETDEWEB)

    Guguloth, Ashwitha [Dept. of Radiology, Bangalore Medical College and Research Institute, Bangalore (India); Aswani, Yashant; Anandpara, Karan Manoj [Dept. of Radiology, Seth G S Medical College and KEM Hospital, Mumbai (India)

    2016-01-15

    Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.

  5. From labyrinthine aplasia to otocyst deformity

    Energy Technology Data Exchange (ETDEWEB)

    Giesemann, Anja Maria; Goetz, Friedrich; Lanfermann, Heinrich [Hannover Medical School, Department of Diagnostic and Interventional Neuroradiology, Hannover (Germany); Neuburger, Juergen; Lenarz, Thomas [Hannover Medical School, Department of Otorhinolaryngology, Hannover (Germany)

    2010-02-15

    Inner ear malformations (IEMs) are rare and it is unusual to encounter the rarest of them, namely labyrinthine aplasia (LA) and otocyst deformity. They do, however, provide useful pointers as to the early embryonic development of the ear. LA is characterised as a complete absence of inner ear structures. While some common findings do emerge, a clear definition of the otocyst deformity does not exist. It is often confused with the common cavity first described by Edward Cock. Our purpose was to radiologically characterise LA and otocyst deformity. Retrospective analysis of CT and MRI data from four patients with LA or otocyst deformity. Middle and inner ear findings were categorised by two neuroradiologists. The bony carotid canal was found to be absent in all patients. Posterior located cystic structures were found in association with LA and otocyst deformity. In the most severe cases, only soft tissue was present at the medial border of the middle ear cavity. The individuals with otocyst deformity also had hypoplasia of the petrous apex bone. These cases demonstrate gradual changes in the two most severe IEMs. Clarification of terms was necessary and, based on these findings, we propose defining otocyst deformity as a cystic structure in place of the inner ear, with the cochlea, IAC and carotid canal absent. This condition needs to be differentiated from the common cavity described by Edward Cook. A clear definition of inner ear malformations is essential if outcomes following cochlear implantation are to be compared. (orig.)

  6. Congenital Leukemia Initially Presenting with Leukemia Cutis

    Directory of Open Access Journals (Sweden)

    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

  7. Osteoma cutis: informe de un caso

    Directory of Open Access Journals (Sweden)

    Pedro Sarmiento

    2008-03-01

    Full Text Available El propósito de esta comunicación es dar a conocer la experiencia con un caso de osteoma cutis en una paciente de 46 años de edad, quien solicitó tratamiento odontológico en las clínicas de la Escuela de Odontología de la Universidad del Valle. El examen radiográfico periapical mostró pequeñas zonas radiopacas de aproximadamente 2 mm de diámetro a nivel de molares superiores derechos e izquierdos. El caso se estudió y se diagnosticó en la Sección de Radiología de la Escuela. Como era un hallazgo radiográfico poco frecuente, se motivó el interés por una revisión detallada del tema y con otras ayudas diagnósticas fue posible establecer el diagnóstico definitivo.

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

    Directory of Open Access Journals (Sweden)

    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.

  9. Acquired pure red cell aplasia in a child.

    Directory of Open Access Journals (Sweden)

    Sharma R

    2002-01-01

    Full Text Available Primary acquired pure red cell aplasia is a rare occurrence in childhood. An eleven-year old boy presented to us with pallor, which required multiple packed red cell transfusions. He did not have hepatosplenomegaly, jaundice or lymphadenopathy. Bone marrow examination revealed the diagnosis of pure red cell aplasia. All possible investigations were done to exclude secondary causes of pure red cell aplasia. No secondary cause was found on investigations. Rheumatoid factor and anti-nuclear antibodies were positive. He was started on oral steroids, to which he did not respond. He was then given cyclosporine A. Response to cyclosporine was dramatic and the child now does not require any transfusions.

  10. Aplasia and hypoplasia of the maxillary sinus: A case series

    Directory of Open Access Journals (Sweden)

    Nasim Jafari-Pozve

    2014-01-01

    Full Text Available Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of the sinus. Computed tomography (CT and also cone beam computed tomography (CBCT are the proper modalities to detect these conditions. In the present study, CBCT findings of three cases with maxillary sinus hypoplasia and aplasia are reported.

  11. Radial aplasia and chromosome 22q11 deletion.

    Science.gov (United States)

    Digilio, M C; Giannotti, A; Marino, B; Guadagni, A M; Orzalesi, M; Dallapiccola, B

    1997-01-01

    We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our knowledge, the present case is the first report of radial aplasia in del22q11. This observation further supports and extends the clinical variability of del22q11. Images PMID:9391893

  12. Clinical and pathological features of pachyonychia congenita.

    Science.gov (United States)

    Leachman, Sancy A; Kaspar, Roger L; Fleckman, Philip; Florell, Scott R; Smith, Frances J D; McLean, W H Irwin; Lunny, Declan P; Milstone, Leonard M; van Steensel, Maurice A M; Munro, Colin S; O'Toole, Edel A; Celebi, Julide T; Kansky, Aleksej; Lane, E Birgitte

    2005-10-01

    Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC cases exhibit fingernail and toenail thickening, and painful plantar keratoderma. Prospective evaluation of 57 PC patients from 41 families revealed variable clinical findings: hyperhidrosis (79%), oral leukokeratosis (75%), follicular keratosis (65%), palmar keratoderma (60%), cutaneous cysts (35%), hoarseness or laryngeal involvement (16%), coarse or twisted hair (26%), early primary tooth loss (14%), and presence of natal or prenatal teeth (2%). Stratification of these data by keratin mutation confirmed the increased incidence of cyst formation and natal teeth among PC-2 patients, although cysts were more commonly seen in PC-1 than previously reported (25%-33%). Previously unreported clinical features of PC include development of painful oral and nipple lesions during breastfeeding, copious production of waxy material in ears, and inability to walk without an ambulatory aid (50%). Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed.

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

    Directory of Open Access Journals (Sweden)

    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.

  14. Defective protein glycosylation in patients with cutis laxa syndrome.

    NARCIS (Netherlands)

    Morava, E.; Wopereis, S.; Coucke, P.J.; Gillessen-Kaesbach, G.; Voit, T.; Smeitink, J.A.M.; Wevers, R.A.; Grunewald, S.

    2005-01-01

    Congenital cutis laxa is a genetically heterogeneous condition presenting with loose and redundant skin folds, decreased elasticity of the skin, connective tissue involvement and a highly variable spectrum of associated features. The most common forms are inherited in an autosomal recessive or domin

  15. 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

  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. 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.

  19. 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...

  20. Primary cutaneous aspergillosis and idiopathic bone marrow aplasia*

    Science.gov (United States)

    Furlan, Karina Colossi; Pires, Mario Cezar; Kakizaki, Priscila; Chartuni, Juliana Cabral Nunes; Valente, Neusa Yuriko Sakai

    2016-01-01

    We describe the case of a 9-year-old boy with idiopathic bone marrow aplasia and severe neutropenia, who developed skin ulcers under cardiac monitoring electrodes. The diagnosis of primary cutaneous aspergillosis was made after the second biopsy and culture. Imaging investigation did not reveal internal fungal infection. The child was treated, but did not improve and died 3 months after admission. The report highlights and discusses the preventable risk of aspergillus skin infection in immunocompromised patients. PMID:27438213

  1. Congenital cutis laxa with rectal and uterovaginal prolapse

    Directory of Open Access Journals (Sweden)

    Sanjiv V Choudhary

    2011-01-01

    Full Text Available A two-month-old female infant born of a consanguineous marriage, presented with loose, wrinkled and inelastic skin over the neck, axillae, trunk, inguinal region and thighs with slow elastic recoil. Patient also had systemic manifestations in the form of bilateral apical lobe consolidation of lung, bilateral inguinal hernia, rectal and uterovaginal prolapse. Histopathological examination of skin biopsy with special stain for elastic tissue revealed absence of dermal elastic tissue. Genital abnormalities in patients with congenital cutis laxa have been reported rarely. But rectal and uterovaginal prolapse have not been reported at an early age of two months. In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.

  2. Amyloidosis cutis dyschromica: A rare reticulate pigmentary dermatosis

    Directory of Open Access Journals (Sweden)

    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

    Directory of Open Access Journals (Sweden)

    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. 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...

  5. 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 ...

  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. Generalized acquired cutis laxa type 1: a case report and brief review of literature.

    Science.gov (United States)

    Kumar, Piyush; Savant, Sushil S; Das, Anupam

    2016-03-16

    Cutis laxa, clinically characterized by loose and pendulous skin related to loss of elastic tissue, is a rare heterogeneous condition. It is classified into congenital and acquired types. We report a case of generalized acquired cutis laxa type 1 in a young man following pruritic urticarial plaques. We have done a brief review of literature.

  8. Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.

    Science.gov (United States)

    Ward, Susannah; Sugo, Ella; Verge, Charles F; Wargon, Orli

    2011-05-01

    We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature with autosomal dominant inheritance from the father, but no dysmorphic features and no parathyroid hormone (PTH) resistance. Osteoma cutis can manifest as an isolated skin disease, a secondary condition to other skin diseases (such as acne), or in association with several syndromes, including AHO, which in turn may be associated with PTH resistance. The management and prognosis of patients diagnosed with osteoma cutis is determined by whether the skin manifestation has occurred in isolation, in association with a syndrome, or as a secondary skin disease. These three paediatric cases highlight the importance of understanding the aetiology and associations of osteoma cutis in order to appropriately investigate and manage patients who present with this rare skin disease.

  9. Electroconvulsive Therapy and Corpus Callosum Aplasia: A 3-Year Followup

    Directory of Open Access Journals (Sweden)

    Ulrich Palm

    2011-01-01

    Full Text Available Electroconvulsive Therapy (ECT is a powerful treatment option in severe or chronic catatonic states and has been reported to be useful in oligophrenic patients. We report the followup medical history of a patient with corpus callosum aplasia (or agenesis who was continuously treated with ECT over three years. First, he improved considerably after a series of ECT, but relapses of catatonia made a continuous, weekly ECT necessary. Due to the severity of the brain malformation, an add-on medication with benzodiazepines and second generation antipsychotics was necessary to treat catatonic symptoms. This case emphasises the benefits of long-term ECT in oligophrenic patients.

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

    Directory of Open Access Journals (Sweden)

    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. 

  11. 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

  12. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    Science.gov (United States)

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

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

    Directory of Open Access Journals (Sweden)

    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.

  14. Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

    Science.gov (United States)

    Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

    2016-01-01

    Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping. PMID:27617523

  15. Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

    Science.gov (United States)

    Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

    2016-05-15

    Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.

  16. Clinical characteristics of myotonia congenita in China Literature analysis of the past 30 years

    Institute of Scientific and Technical Information of China (English)

    Yangwei Zhang; Shushan Zhang; Huifang Shang

    2008-01-01

    AIM:To understand the distinct,clinical features of myotonia congenita in China.METHODS:Case reports of myotonia congenita were retrieved from the Chinese Journal Full-text database,dating between 1980 and 2007,and analyzed for clinical characteristics of myotonia congenita. RESULTS:There were 35 published reports and 258 cases about myotonia congenita.Six reports(62 cases)were excluded due to lack of clinical data,imprecise diagnosis,or duplication.Finally,29 published reports and 196 cases(140 males and 56 females)were included in this analysis.About 78.6% of patients were diagnosed with myotonia congenita before the age of 20,and among these, 86.1% were classified as dominant inheritance.Lower and upper extremities were frequently affected with severe symptoms.Eyelids,mouth and lingual muscles,and trunk muscles and cervical muscles were less frequently involved.However,muscles for swallowing,sphincter muscles,and smoothmuscles were not involved.There were no reports of cataracts,cardiac conduction block,or dyscrinism. Myotonia congenita symptoms were induced or aggravated by cold temperatures in 71.9% of the patients and warming-up effect occurred in 95.6% of the patients.Muscle hypertrophy was observed in 69.6% and percussion of muscles in 76.5% of the patients.Myotonia potential or myotonia-likepotential was detected in all patients using electromyography.Muscle fiber swelling or hypertrophy was frequently detected through muscular biopsy.CONCLUSION:Myotonia congenita frequently occurs in males before the age of 20,in particular as the autosomal dominant form of myotonia congenita.Skeletal muscles throughout the body,especially the lower and upper extremities,are involved.However,muscles for swallowing,sphincter muscles, and smooth muscles are not involved.Warming-up effect is the main characteristic of myotonia congenita.

  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. Thermomechanical processing of CuTi4 alloy

    Directory of Open Access Journals (Sweden)

    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

  19. Postoperative Intussusception in a Neonate with Congenital Cutis Laxa and Huge Hiatal Hernia

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    Leili Mohajerzadeh

    2014-02-01

    Full Text Available Congenital cutis laxa is a genetically heterogeneous condition presenting in the newborn with loose, redundant skin folds, decreased elasticity of the skin, and general connective tissue involvement. A 2-day-old full term neonate with congenital cutis laxa presented with respiratory distress. Investigations revealed huge hiatal hernia. Patient underwent loose Nissen’s fundoplication. In postoperative period patient developed intussusception which was manually reduced at re-surgery.

  20. 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.

  1. Mutations in PYCR1 cause cutis laxa with progeroid features.

    Science.gov (United States)

    Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe

    2009-09-01

    Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation. Homozygosity mapping in several kindreds with ARCL identified a candidate region on chromosome 17q25. By high-throughput sequencing of the entire candidate region, we detected disease-causing mutations in the gene PYCR1. We found that the gene product, an enzyme involved in proline metabolism, localizes to mitochondria. Altered mitochondrial morphology, membrane potential and increased apoptosis rate upon oxidative stress were evident in fibroblasts from affected individuals. Knockdown of the orthologous genes in Xenopus and zebrafish led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis. Our findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues.

  2. 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.

  3. 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...

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

    Directory of Open Access Journals (Sweden)

    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

  5. 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...

  6. 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

  7. 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

  8. D-penicillamine-induced elastosis perforans serpiginosa and localized cutis laxa in a patient with Wilson's disease.

    Science.gov (United States)

    Amichai, B; Rotem, A; Metzker, A

    1994-08-01

    A patient with Wilson's disease who developed elastosis perforans serpiginosa and localized cutis laxa during prolonged treatment with D-penicillamine is described. Induction of elastosis perforans serpiginosa and of cutis laxa by D-penicillamine may be due to a similar mechanism.

  9. Chordoma Cutis – A Diagnosis not to be Missed

    Science.gov (United States)

    Mishra, Kiran

    2014-01-01

    Chordomas are rare midline tumors of the bone usually arising from sacrum, skull bones and spine, close to neuraxis. However an extensive involvement of the soft tissues can simulate a soft tissue subcutaneous tumour of the gluteal region –a presentation called chordoma cutis. Our patient presented with a gluteal mass and a trucut biopsy was done suspecting a soft tissue tumour. The hematoxylin and eosin stained section of the biopsy closely simulated a lipomatous tumour. However, on closer inspection the clear cells were found to have very fine vacuolations.The usual myxoid background and characteristic physaliferous cells seen in chordomas were not seen. Still a differential of chordoma was entertained in view of the site and age of the patient. Immunohistochemistry for cytokeratin and S-100 was performed and both were unambiguously positive. On literature search, we came across a soft tissue tumour called parachordoma which mimics chordoma both morphologically and immunohistochemically and has also been reported in the gluteal region. An MRI was performed which showed the tumour to be arising from the sacrum and secondarily involving the gluteal soft tissues. This case highlights the importance of considering chordoma in the differential diagnosis of gluteal masses with clear cell morphology even in the absence of physaliferous cells and myxoid background before signing them out as lipomatous tumours. PMID:25120995

  10. 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

  11. 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.

  12. 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.

  13. 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

  14. 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

  15. 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

  16. 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.

  17. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Jennifer L. Flint

    2013-01-01

    Full Text Available We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH. The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS locus and the AHC locus on the X chromosome revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

  18. Dyskeratosis congenita as a disorder of telomere maintenance

    Energy Technology Data Exchange (ETDEWEB)

    Nelson, Nya D. [Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children' s Hospital, 1102 Bates, FC 1200, Houston, TX 77030 (United States); Bertuch, Alison A., E-mail: abertuch@bcm.edu [Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children' s Hospital, 1102 Bates, FC 1200, Houston, TX 77030 (United States); Department of Pediatrics, Baylor College of Medicine, Texas Children' s Hospital, 1102 Bates, FC 1200, Houston, TX 77030 (United States)

    2012-02-01

    Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized molecularly by the presence of short age-adjusted telomeres. Mutations in seven genes have been unequivocally associated with DC, each with a role in telomere length maintenance. These observations, combined with knowledge that progressive telomere shortening can impose a proliferative barrier on dividing cells and contribute to chromosome instability, have led to the understanding that extreme telomere shortening drives the clinical features of DC. However, some of the genes implicated in DC encode proteins that are also components of H/ACA-ribonucleoprotein enzymes, which are responsible for the post-translational modification of ribosomal and spliceosomal RNAs, raising the question whether alterations in these activities play a role in the pathogenesis of DC. In addition, recent reports suggest that some cases of DC may not be characterized by short age-adjusted telomeres. This review will highlight our current knowledge of the telomere length defects in DC and the factors involved in its development.

  19. Milia-like calcinosis cutis in a girl with Down syndrome*

    Science.gov (United States)

    Solak, Berna; Kara, Rabia Oztas; Vargol, Erdem

    2016-01-01

    Milia-like idiopathic calcinosis cutis (MICC) is a very rare dermatological disorder characterized by multiple whitish to skin colored, milia-like papules, mostly found on the hands. MICC can disappear spontaneously by adulthood; therefore, its early recognition is crucial to avoiding unnecessary interventions. Herein, we present a case of MICC in a 6-year-old girl with Down syndrome.

  20. 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.

  1. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

    NARCIS (Netherlands)

    Gardeitchik, T.; Mohamed, M.; Fischer, B.; Lammens, M.M.; Lefeber, D.J.; Lace, B.; Parker, M.; Kim, K.J.; Lim, B.C.; Haberle, J.; Garavelli, L.; Jagadeesh, S.; Kariminejad, A.; Guerra, D.; Leao, M.; Keski-Filppula, R.; Brunner, H.G.; Nijtmans, L.G.; Heuvel, B. van den; Wevers, R.A.; Kornak, U.; Morava, E.

    2014-01-01

    Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurolog

  2. 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

  3. Decreased bone density and treatment in patients with autosomal recessive cutis laxa.

    NARCIS (Netherlands)

    Noordam, C.; Funke, S.; Slobbe-Knoers, V.V.A.M.; Jira, P.E.; Wevers, R.A.; Urban, Z.; Morava, E.

    2009-01-01

    AIM: Due to the occasional association pathological fractures and osteoporosis we evaluated four patients with cutis laxa syndrome for skeletal anomalies. PATIENT/METHODS: We prospectively evaluated four patients, a male and a female child and a brother-sister sib pair, with dysmorphic features, gro

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.

    NARCIS (Netherlands)

    Blijham, P.J.; Drost, G.; Stegeman, D.F.; Zwarts, M.J.

    2008-01-01

    In this study we investigated a family with paramyotonia (PC) congenita caused by a Gly1306Val mutation in the voltage-gated sodium-channel gene SCN4A. A previous study showed that exposure to cold aggravates the muscle stiffness in patients with this mutation. However, the mechanism behind cold sen

  9. 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.

  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. 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

  12. 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.

  13. Cutis Verticis Gyrata in Men Affected by HIV-Related Lipodystrophy

    Directory of Open Access Journals (Sweden)

    Keshav Khanijow

    2013-01-01

    Full Text Available We report the occurrence of cutis verticis gyrata (CVG, a disfiguring dermatological condition, in four patients with HIV-related lipodystrophy (HIVLD. These four patients had abnormal metabolic and hormonal lab values which we compare with metabolic and hormonal perturbations cited in previous HIVLD cohorts. In addition, we describe the sole use of poly-L-lactic acid as a potential treatment for decreasing the appearance of CVG-associated ridges.

  14. 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.

  15. [Acute hepatitis-associated pure red cell aplasia: a case report].

    Science.gov (United States)

    Della Loggia, Paolo; Cremonini, Laura

    2002-12-01

    After a holiday in Egypt, a 57-year-old caucasian woman developed acute hepatitis A. The illness seemed initially to have a benign course, with a decreasing trend of hepatic enzymes and an apparent recovery. Three weeks later a relapse occurred. Recurrence of symptoms and aminotransferase elevation were associated with severe anemia; a hyporegenerative anemia was diagnosed and all laboratory findings were consistent with pure red cell aplasia. The haematologic disorder was successfully treated with red cell transfusion and glucocorticoids.

  16. 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...

  17. 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.

  18. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    Science.gov (United States)

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  19. 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...

  20. 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...

  1. 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

  2. Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics.

    Directory of Open Access Journals (Sweden)

    Wei Cheng

    Full Text Available Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1. Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders. In this study, we generated transgenic zebrafish expressing, under the control of a muscle specific promoter, human CLCN1 carrying mutations that have been identified in human patients suffering from myotonia congenita. We developed video analytic tools that are able to provide precise quantitative measurements of movement abnormalities in order to analyse the effect of these CLCN1 mutations on adult transgenic zebrafish swimming. Two new parameters for body-wave kinematics of swimming reveal changes in body curvature and tail offset in transgenic zebrafish expressing the disease-associated CLCN1 mutants, presumably due to their effect on muscle function. The capability of the developed video analytic tool to distinguish wild-type from transgenic zebrafish could provide a useful asset to screen for compounds that reverse the disease phenotype, and may be applicable to other movement disorders besides myotonia congenita.

  3. Myotonia Congenita-Associated Mutations in Chloride Channel-1 Affect Zebrafish Body Wave Swimming Kinematics

    Science.gov (United States)

    Cheng, Wei; Tian, Jing; Burgunder, Jean-Marc; Hunziker, Walter; Eng, How-Lung

    2014-01-01

    Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders. In this study, we generated transgenic zebrafish expressing, under the control of a muscle specific promoter, human CLCN1 carrying mutations that have been identified in human patients suffering from myotonia congenita. We developed video analytic tools that are able to provide precise quantitative measurements of movement abnormalities in order to analyse the effect of these CLCN1 mutations on adult transgenic zebrafish swimming. Two new parameters for body-wave kinematics of swimming reveal changes in body curvature and tail offset in transgenic zebrafish expressing the disease-associated CLCN1 mutants, presumably due to their effect on muscle function. The capability of the developed video analytic tool to distinguish wild-type from transgenic zebrafish could provide a useful asset to screen for compounds that reverse the disease phenotype, and may be applicable to other movement disorders besides myotonia congenita. PMID:25083883

  4. 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

  5. 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.)

  6. 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.

  7. [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

  8. [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;

    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...

  9. 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.

  10. 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...

  11. 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.

  12. 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.

  13. [Aplasia and hypoplasia of the optic nerve. Comparison of 2 cases].

    Science.gov (United States)

    Pisaturo, C; Dolci, A; Pessagno, A; Padua, G L; Dassio, D A; De Negri, M

    1996-10-01

    Hypoplasia and aplasia of the optic nerve are congenital anomalies characterized respectively by a marked volume reduction (very small papilla, often identifiable only as a rosy-yellowish area from which the retinal vessels emerge) and by the absence of the optic disk (absence of the nerve and mainly of its vessels) and of the visual functions. These anomalies are often associated with malformations of the central nervous system and of the ocular structures. The defects originate in the embryonal period due to the arrested development of the mesodermal component towards the head of the optic nerve. The aim of this study is to try to interpret the different clinical manifestations of the disease by observing two cases (a female and a male) with a clinical picture of aplasia and hypoplasia of the optic nerve respectively. Both cases presented the following clinical characteristics: developmental defects of the optic nerve, severe microcephaly, positive IgG antibodies against CMV. The association of the optic nerve defect with microcephaly is due to the embryogenic origin of the optic vescicle by prosencephalon. The resulting clinical picture is probably the outcome of an interfering process that the authors have presumed in CMV intrauterine infection, after having excluded the most frequent teratogenic agents (maternal diabetes, tabagism, intake of alcohol ad drugs). Moreover, the different degree of ocular involvement and the different time of onset of the intrauterine pathogenic insult in the two cases could account for the different clinical pictures. PMID:9053727

  14. 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...

  15. 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

  16. 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.

  17. 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.

  18. 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

  19. Successful rescue of pure red cell aplasia in two aged patients undergoing pancrease-kindey transplantation

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yin-fu; YANG Tong-han; WANG Qing-yu; Wang Ping-xian; Fan Ming-qi; Feng Jia-yu

    2001-01-01

    To explore the correlation between hypoimmunity and the occurrence of pure red cell aplasia (PRCA) in senile patients undergoing combined pancrease-kindey transplantation. Methods: PRCA occurred in 2 patients out of 5 who were performed combined pancrease-kindey transplantation.The general scheme of treatment mainly included selective administration of immunosuppressants and antivirus drugs, infusion of red blood cells on the basis of surveillance of parvorirus B19 and the ratio of T4 and T8 as well as the changes of the myelogram.Results: The myelogram of the patients returned to normal in 2 and 3 weeks after operation, respectively, and subsequent follow-up revealed no recurrence. Conclusion: This series illustrate the point that advanced age, hypo immunity, parvorirus B19 and immunosuppressants are vulnerable to PRCA. Combined treatment is an effectiveremedy for these patients.

  20. 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

  1. Corrosion and ion release behavior of Cu/Ti film prepared via physical vapor deposition in vitro as potential biomaterials for cardiovascular devices

    Energy Technology Data Exchange (ETDEWEB)

    Liu Hengquan [Center of Research and Development, Lifetech Scientific (Shenzhen) Co., Ltd., Shenzhen 518057 (China); Department of Materials Science and Engineering, Shenzhen Graduate School, Harbin Institute of Technology, Shenzhen 518055 (China); Zhang Deyuan, E-mail: zhangdeyuan@lifetechmed.com [Center of Research and Development, Lifetech Scientific (Shenzhen) Co., Ltd., Shenzhen 518057 (China); Shen Feng [Center of Research and Development, Lifetech Scientific (Shenzhen) Co., Ltd., Shenzhen 518057 (China); Department of Materials Science and Engineering, Shenzhen Graduate School, Harbin Institute of Technology, Shenzhen 518055 (China); Zhang Gui [Center of Research and Development, Lifetech Scientific (Shenzhen) Co., Ltd., Shenzhen 518057 (China); Song Shenhua [Department of Materials Science and Engineering, Shenzhen Graduate School, Harbin Institute of Technology, Shenzhen 518055 (China)

    2012-07-15

    Cu/Ti films of various Cu/Ti ratios were prepared on a TiNi alloy via vacuum arc plasma deposition. The phase composition, structure, and concentration of elements were investigated via X-ray diffraction and X-photoelectron energy spectrum. The hemolysis ratio and platelet adhesion of the different films were characterized to evaluate blood compatibility. The corrosion and ion release behavior were investigated via a typical immersion test and electrochemical method. The growth of endothelial cells (ECs) was investigated, and methylthiazolyte-trazolium method was employed to evaluate the effect of Cu{sup 2+}. The sophisticated films showed good compatibility. However, with increasing quality ratio of Cu/Ti, the hemolysis ratio increased, and some platelets started to break slightly. The Cu{sup 2+} release was gradually stabilized. The open circuit potential of the Cu/Ti film-modified samples was lower than that of the TiNi substrate. The polarization test result indicates that the passivation stability performance of Cu/Ti film samples is less than the TiNi substrate, and is favorable to Cu{sup 2+} release. The adhesion and proliferation of ECs would be inhibited with 10 wt.% Cu concentration of the film, and ECs would undergo apoptosis at >50 wt.% concentration. A Cu/Ti film with good compatibility and anti-endothelialization has potential applications for special cardiovascular devices.

  2. 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.)

  3. 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...

  4. Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma.

    Science.gov (United States)

    Turner, Ryan B; Haynes, Harley A; Granter, Scott R; Miller, Danielle M

    2009-06-01

    Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized clinically by loosely hanging skin folds. There is often preceding cutaneous inflammatory eruption (ie, urticaria, eczema, erythema multiforme), and there is frequently internal organ involvement of the gastrointestinal, urogenital, pulmonary, and cardiovascular systems. Histologically, there are degenerative changes in the dermal elastic fibers. Of the few reports on this rare disorder, authors have speculated about an immune-mediated destruction of elastic fibers, and monoclonal gammopathies, such as multiple myeloma or heavy chain deposition disease, have a recognized association with CL. We report an unusual case of rapidly progressing acquired CL associated with leukocytoclastic vasculitis, IgA myeloma, and an immune complex-mediated glomerulonephritis. Light microscopy of the lax skin revealed complete absence of elastic fibers in areas of vasculitis.

  5. A Case of Primary Osteoma Cutis%原发性皮肤骨瘤1例

    Institute of Scientific and Technical Information of China (English)

    王海斌; 周萍; 罗来华

    2013-01-01

    患者女,23岁.12年前发现右腹部出现数十个米粒状小结节,质硬,无明显自觉症状.皮损组织病理示:真皮层见灶性板层状成熟骨组织,部分骨小梁周围可见成骨细胞.诊断:原发性皮肤骨瘤.%A 23-year-old female had presented with multiple and asymptomatic small nodular lesions on the right abdomen for 12 years.These lesions were as hard as bone.Histopathological examination showed that focal lamellar matured bone in dermis.Osteoblasts were around some of the bone trabecular.Diagnosis of primary osteoma cutis was made.

  6. Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy.

    Science.gov (United States)

    Tariq, Sarah; Schmitz, Michael L; Kanjia, Megha Karkera

    2016-05-15

    We report the case of an 11-year-old girl who presented to our multidisciplinary pain center with the chief complaint of chronic bilateral foot pain because of a rare congenital keratin disorder. This patient had been diagnosed with pachyonychia congenita, an extremely rare genetic disorder primarily affecting the skin and nails. The child had bilateral foot pain for years because of the characteristic blisters and calluses on the soles of her feet. Chronic pain was negatively impacting her quality of life; she was severely limited in her activities of daily living secondary to pain. Furthermore, she reported absenteeism from school, lack of social activities, and frequent nighttime awakenings. We discuss the successful management of her chronic foot pain using a multimodal, multidisciplinary approach. PMID:27182712

  7. 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.

  8. 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

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

    Directory of Open Access Journals (Sweden)

    Ipek Yonal

    2011-11-01

    Full Text Available 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.

  10. 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...

  11. 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

  12. 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.

  13. The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.

    Science.gov (United States)

    Uitto, Jouni; Li, Qiaoli; Urban, Zsolt

    2013-02-01

    Elastic fibres are critical connective tissue components providing elasticity and resilience to skin and other tissues. These fibres are composed of elastin and a number of elastin-associated microfibrillar proteins that assemble in a complex fibre network in a multi-step process. Multiple cellular processes, including mitochondrial function, specific molecules in the secretory pathways and temporally and spatially ordered production of elastic fibre components, are required for the biogenesis of functional elastic fibres. Abnormalities in these processes can lead to loss of functional elastic fibres manifesting phenotypically as a skin disease. The paradigm of elastic fibre diseases affecting the skin is cutis laxa, a clinically and genetically heterogeneous group of disorders characterized by loose and sagging skin, frequently associated with extracutaneous manifestations in the lungs and the arterial blood vessels. The complexity of cutis laxa is emphasized by the fact that as many as 10 distinct genes can harbour mutations in this and related disorders. Understanding of the pathomechanistic pathways involved in perturbed elastic fibre assembly in cutis laxa provides information potentially helpful for the development of molecular strategies towards treatment of these, currently intractable, diseases.

  14. 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.

  15. 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...

  16. 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.

  17. Further development of a model of chronic bone marrow aplasia in the busulphan-treated mouse.

    Science.gov (United States)

    Turton, John A; Sones, William R; Andrews, Charles M; Pilling, Andrew M; Williams, Thomas C; Molyneux, Gemma; Rizzo, Sian; Gordon-Smith, Edward C; Gibson, Frances M

    2006-02-01

    Aplastic anaemia (AA) in man is an often fatal disease characterized by pancytopenia of the peripheral blood and aplasia of the bone marrow. AA is a toxic effect of many drugs and chemicals (e.g. chloramphenicol, azathioprine, phenylbutazone, gold salts, penicillamine and benzene). However, there are no widely used or convenient animal models of drug-induced AA. Recently, we reported a new model of chronic bone marrow aplasia (CBMA = AA) in the busulphan (BU)-treated mouse: eight doses of BU (10.50 mg/kg) were administered to female BALB/c mice over a period of 23 days; CBMA was evident at day 91/112 post-dosing with significantly reduced erythrocytes, platelets, leucocytes and nucleated bone marrow cell counts. However, mortality was high (49.3%). We have now carried out a study to modify the BU-dosing regime to induce CBMA without high mortality, and investigated the patterns of cellular responses in the blood and marrow in the post-dosing period. Mice (n = 64/65) were dosed 10 times with BU at 0 (vehicle control), 8.25, 9.0 and 9.75 mg/kg over 21 days and autopsied at day 1, 23, 42, 71, 84, 106 and 127 post-dosing (n = 7-15); blood and marrow samples were examined. BU induced a predictable bone marrow depression at day 1 post-dosing; at day 23/42 post-dosing, parameters were returning towards normal during a period of recovery. At day 71, 84, 106 and 127 post-dosing, a stabilized, late-stage, nondose-related CBMA was evident in BU-treated mice, with decreased erythrocytes, platelets and marrow cell counts, and increased MCV. At day 127 post-dosing, five BU-treated mice showed evidence of lymphoma. In this study, mortality was low, ranging from 3.1% (8.25 mg/kg BU) to 12.3% (9.75 mg/kg BU). It is concluded that BU at 9.0 mg/kg (or 9.25 mg/kg) is an appropriate dose level to administer (10 times over 21 days) to induce CBMA at approximately day 50-120 post-dosing.

  18. [Pachyonychia congenita].

    Science.gov (United States)

    Alperovich, B A; de los Rios, E H; Conejos, M

    1981-01-01

    The authors describe a new case of this unusual disease, which correspond to a three years old girl, derived from a family without others observations nor consaguinity between her parents. The clinic-neurological examen was normal. The typical dermatological lesions were quite clear to the diagnostic. The pathological anatomy showed the typical structure. PMID:7026924

  19. 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.

  20. 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.

  1. [Pachyonychia congenita].

    Science.gov (United States)

    Alperovich, B A; de los Rios, E H; Conejos, M

    1981-01-01

    The authors describe a new case of this unusual disease, which correspond to a three years old girl, derived from a family without others observations nor consaguinity between her parents. The clinic-neurological examen was normal. The typical dermatological lesions were quite clear to the diagnostic. The pathological anatomy showed the typical structure.

  2. 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.

  3. Common crus aplasia: diagnosis by 3D volume rendering imaging using 3DFT-CISS sequence

    Energy Technology Data Exchange (ETDEWEB)

    Kim, H.J. E-mail: hakjink@pusan.ac.kr; Song, J.W.; Chon, K.-M.; Goh, E.-K

    2004-09-01

    AIM: The purpose of this study was to evaluate the findings of three-dimensional (3D) volume rendering (VR) imaging in common crus aplasia (CCA) of the inner ear. MATERIALS AND METHODS: Using 3D VR imaging of temporal bone constructive interference in steady state (CISS) magnetic resonance (MR) images, we retrospectively reviewed seven inner ears of six children who were candidates for cochlear implants and who had been diagnosed with CCA. As controls, we used the same method to examine 402 inner ears of 201 patients who had no clinical symptoms or signs of sensorineural hearing loss. Temporal bone MR imaging (MRI) was performed with a 1.5 T MR machine using a CISS sequence, and VR of the inner ear was performed on a work station. Morphological image analysis was performed on rotation views of 3D VR images. RESULTS: In all seven cases, CCA was diagnosed by the absence of the common crus. The remaining superior semicircular canal (SCC) was normal in five and hypoplastic in two inner ears, while the posterior SCC was normal in all seven. One patient showed bilateral symmetrical CCA. Complicated combined anomalies were seen in the cochlea, vestibule and lateral SCC. CONCLUSION: 3D VR imaging findings with MR CISS sequence can directly diagnose CCA. This technique may be useful in delineating detailed anomalies of SCCs.

  4. 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.

  5. Aleukemic Leukemia Cutis Presenting as a Sole Sign of Relapsed Paediatric Acute Lymphoblastic Leukemia.

    Science.gov (United States)

    Joshi, Kshitij; Panchal, Harsha; Parikh, Sonia; Modi, Gaurang; Talele, Avinash; Anand, Asha; Uparkar, Urmila; Joshi, Nitin; Khatawani, Itesh

    2016-06-01

    The author describes paediatric case of relapsed acute lymphoblastic leukaemia (ALL) presented as aleukemic leukaemia cutis (ALC). A 2 year old child was admitted in tertiary oncology centre. He suffered from pre B cell ALL with absent Philadelphia chromosome. This patient received multiagent induction chemotherapy as per Berlin-Frankfurt-Munster (BFM) protocol for ALL. He achieved remission after 28 days of treatment. Subsequently he presented with multiple skin lesions in the form of multiple small erythematous violaceous macules, papules, plaques and nodules on face, chest and back regions. Histopathological examination of biopsy of skin revealed diffuse infiltration of tumor cells with prominent nucleoli, scant eosinophilic cytoplasm and numerous mitotic figures consistent with LC. Immunohistochemistry was positive for CD 10, CD 19, CD 22, CD 24, CD 79-a and TdT while negative for surface immunoglobulin. At the time of presentation his peripheral blood smear and bone marrow examination was negative for malignant cells. Sanctuary sites including central nervous system and testicles were not involved. So patient was diagnosed as ALC. He was managed as per BFM relapse protocol for ALL. Skin lesions disappeared completely after 2 weeks of treatment. Unfortunately patient developed bone marrow and testicular relapse after 2 months. He was given testicular radiotherapy and systemic chemotherapy for relapsed ALL. But his marrow was showing persistent activity and he expired after 4 months.

  6. "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.

  7. A case of primary osteoma cutis%原发性皮肤骨瘤

    Institute of Scientific and Technical Information of China (English)

    胡继旭; 严煜林; 罗虹

    2012-01-01

    A one-year-old female had asymptomatic, firm, plate-like nodules of various sizes and shapes on right abdomen, flank and left leg since she was 2 months old. Laboratory tests showed normal levels of serum calcium and phosphate. Histopathological examination of right abdominal lesion showed the lamellar mature bone in dermis and subcutaneous tissue. Osteoblasts were around some of the trabecular bone. Diagnosis of primary osteoma cutis was established.%报告1例原发性皮肤骨瘤.患儿女,1岁.出生2个月时其母发现其右腹部、右腰部、左大腿皮肤多发性大小不等的扁平结节,质硬,无明显自觉症状.血清钙磷水平正常.右腹部皮损组织病理示:真皮层及真皮下层可见板层状不规则排列的分化成熟的骨组织,部分骨小梁周围可见成骨细胞.诊断:原发性皮肤骨瘤.

  8. ULTRASOUND GUIDED ILIOINGUINAL AND ILIOHYPOGASTRIC NERVE BLOCK FOR INGUINAL HERNIA REPAIR IN ARTHROGRYPOSIS MULTIPLEX CONGENITA

    Directory of Open Access Journals (Sweden)

    Paul O.

    2015-06-01

    Full Text Available Arthrogryposis multiplex congenita (AMC refers to a syndrome of unknown etiology with multiple congenital contractures in one or more joints with a concomitant inability of passive extension and flexion . The overall prevalence of arthrogryposis is one in 3000 live births . The extensive contractures , tense skin , minimal muscle mass and subcutaneous tissue pose challenges in anaesthetic management. We report a seven year old boy (15 kg , known case of AMC with congenital talipes equino varus (CTEV and bilateral hip dislocation posted for right sided herniot omy and orchidopexy. We planned to combine general anaesthesia without muscle relaxants and regional nerve block. The child was induced with propofol and Classic LMA Size 2 was inserted. An ilioinguinal and i liohypogastric nerve block was given under ultrasound guidance using 0.2% ropivacaine. Pateint remained hemodynamically stable during surgery with minimal anaesthetic requirement and no anlgesics. Analgesia lasted for 8 hours postoperatively. Combining narcosis with regional anaesthesia leads to a reduced demand for anaesthetics , stable circulatory conditions , maintenance of spontaneous breathing , prevention of stress and sufficient postoperative analgesia

  9. Mutation of a type II keratin gene (K6a) in pachyonychia congenita.

    Science.gov (United States)

    Bowden, P E; Haley, J L; Kansky, A; Rothnagel, J A; Jones, D O; Turner, R J

    1995-07-01

    Pachyonychia congenita (PC) is a rare autosomal dominant condition characterized by multiple ectodermal abnormalities. Patients with Jadassohn-Lewandowsky Syndrome (MIM #167200; PC-1) have nail defects (onchyogryposis), palmoplantar hyperkeratosis, follicular hyperkeratosis and oral leukokeratosis. Those with the rarer Jackson-Lawler Syndrome (MIM #167210; PC-2) lack oral involvement but have natal teeth and cutaneous cysts. Ultra-structural studies have identified abnormal keratin tonofilaments and linkage to the keratin gene cluster on chromosome 17 has been found in PC families. Keratins are the major structural proteins of the epidermis and associated appendages and the nail, hair follicle, palm, sole and tongue are the main sites of constitutive K6, K16 and K17 expression. Furthermore, mutations in K16 and K17 have recently been identified in some PC patients. Although we did not detect K16 or K17 mutations in PC families from Slovenia, we have found a heterozygous deletion in a K6 isoform (K6a) in the affected members of one family. This 3 bp deletion (AAC) in exon 1 of K6a removes a highly conserved asparagine residue (delta N170) from position 8 of the 1A helical domain (delta N8). This is the first K6a mutation to be described and this heterozygous K6a deletion is sufficient to explain the pathology observed in this PC-1 family.

  10. Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.

    Science.gov (United States)

    Gruber, R; Wilson, N J; Smith, F J D; Grabher, D; Steinwender, L; Fritsch, P O; Schmuth, M

    2009-12-01

    Pachyonychia congenita (PC), a rare autosomal-dominant keratin disorder caused by mutations in keratin genes KRT6A/B, KRT16 or KRT17, is characterized by painful plantar keratoderma and hypertrophic nail dystrophy. Loss-of-function mutations in the filaggrin (FLG) gene underlie the most prevalent skin disorder of cornification, ichthyosis vulgaris (IV), which presents with generalized scaling and is also associated with atopic dermatitis. Recently, FLG mutations have been reported to increase phenotype severity of X-linked ichthyosis and alopecia areata. We report a parent-child trio in which the mother and the son have PC and the father has IV. Both the mother and the son are carriers for the KRT16 mutation p.Leu132Pro. The son, who is much more severely affected than his mother, in addition carries the heterozygous FLG mutation p.R2447X, which was inherited from the father. This observation suggests that coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC.

  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

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    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. 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

  15. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.

    Science.gov (United States)

    Sahoo, Trilochan; Naeem, Rizwan; Pham, Kim; Chheng, Sou; Noblin, Sarah T; Bacino, Carlos A; Gambello, Michael J

    2005-02-15

    We report on the clinical and cytogenetic findings in a newborn with a de novo isochromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between chromosome 18p telomere and chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isochromosome cases may be more common than appreciated.

  16. 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

  17. Noncanonical Wnt5a-Ca(2+) -NFAT signaling axis in pesticide induced bone marrow aplasia mouse model: A study to explore the novel mechanism of pesticide toxicity.

    Science.gov (United States)

    Chattopadhyay, Sukalpa; Chatterjee, Ritam; Law, Sujata

    2016-10-01

    According to case-control studies, long-term pesticide exposure can cause bone marrow aplasia like hematopoietic degenerative disease leading to impaired hematopoiesis and increased risk of aplastic anemia in human subjects. However, the exact mechanism of pesticide mediated hematotoxicity still remains elusive. In this study, we investigated the role of noncanonical Wnt signaling pathway, a crucial regulator of adult hematopoiesis, in pesticide induced bone marrow aplasia mouse model. Aplasia mouse model was developed following inhalation and dermal exposure of 5% aqueous mixture of common agriculturally used pesticides for 6 h/day for 5 days a week up to 90 days. After that, blood hemogram, marrow smear, cellularity, scanning electron microscopy, extramedullary hematopoiesis and flowcytometric expression analysis of noncanonical Wnt signaling components, such as Wnt 5a, fzd5, NFAT, IFN-γ, intracellular Ca(2+) level were evaluated in the bone marrow hematopoietic stem/progenitor compartment of the control and pesticide induced aplasia groups of animals. Results showed that pesticide exposed mice were anemic with peripheral blood pancytopenia, hypocellular degenerative marrow, and extramedullary hematopoiesis in the spleen. Upon pesticide exposure, Wnt 5a expression was severely downregulated with a decline in intracellular Ca(2+) level. Moreover, downstream of Wnt5a, we observed sharp downregulation of NFATc2 transcription factor expression, the major target of pesticide toxicity and its target molecule IFN-γ. Taken together, our result suggests that deregulation of Wnt5a-Ca(2+) -NFAT signaling axis in the hematopoietic stem/progenitor compartment plays a crucial role behind the pathogenesis of pesticide mediated bone marrow aplasia by limiting primitive hematopoietic stem cells' ability to maintain hematopoietic homeostasis and reconstitution mechanism in vivo during xenobiotic stress leading to ineffective hematopoiesis and evolution of bone marrow aplasia.

  18. 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

  19. Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.

    Science.gov (United States)

    Urban, Zsolt; Davis, Elaine C

    2014-01-01

    Cutis laxa (CL), a disease characterized by redundant and inelastic skin, displays extensive locus heterogeneity. Together with geroderma osteodysplasticum and arterial tortuosity syndrome, which show phenotypic overlap with CL, eleven CL-related genes have been identified to date, which encode proteins within 3 groups. Elastin, fibulin-4, fibulin-5 and latent transforming growth factor-β-binding protein 4 are secreted proteins which form elastic fibers and are involved in the sequestration and subsequent activation of transforming growth factor-β (TGFβ). Proteins within the second group, localized to the secretory pathway, perform transport and membrane trafficking functions necessary for the modification and secretion of elastic fiber components. Key proteins include a subunit of the vacuolar-type proton pump, which ensures the efficient secretion of tropoelastin, the precursor or elastin. A copper transporter is required for the activity of lysyl oxidases, which crosslink collagen and elastin. A Rab6-interacting goglin recruits kinesin motors to Golgi-vesicles facilitating the transport from the Golgi to the plasma membrane. The Rab and Ras interactor 2 regulates the activity of Rab5, a small guanosine triphosphatase essential for the endocytosis of various cell surface receptors, including integrins. Proteins of the third group related to CL perform metabolic functions within the mitochondria, inhibiting the accumulation of reactive oxygen species. Two of these proteins catalyze subsequent steps in the conversion of glutamate to proline. The third transports dehydroascorbate into mitochondria. Recent studies on CL-related proteins highlight the intricate connections among membrane trafficking, metabolism, extracellular matrix assembly, and TGFβ signaling.

  20. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

    Science.gov (United States)

    Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W

    2003-05-15

    We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa.

  1. 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.)

  2. 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.

  3. [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

  4. Elastólise pós-inflamatória e cutis laxa (doença de James Marshall: estudo de casos Post-inflammatory elastolysis and cutis laxa (James Marshall disease: case study

    Directory of Open Access Journals (Sweden)

    Claudemir Roberto Aguilar

    2007-08-01

    Full Text Available FUNDAMENTOS: Elastólise pós-inflamatória e cutis laxa são doenças raras, porém só o Estado de Minas Gerais responde por quase um terço dos casos relatados em todo o mundo. Também são escassos os trabalhos com seguimento dos pacientes. OBJETIVOS: Relatar nove casos observados no período de 1981 a 2004, confrontando seus achados com os 20 casos da literatura. MÉTODOS: Foram analisadas variáveis epidemiológicas, clínicas, histopatológicas e terapêuticas. RESULTADOS: Foram observados o predomínio na raça negra (8:1, no sexo feminino (4:1 e nos trópicos (9:1; idade de início até os quatro anos (93%; deficiência de alfa 1-antitripsina (7%; aortite (7%; dermatoses relacionadas (62%; aspecto facial envelhecido (97%, fase atrófica estável na infância após período variável de meses a anos com lesões inflamatórias (97%. A histopatologia das lesões recentes mostrou infiltrado mais intenso e perda elástica menor do que nas lesões tardias. A cirurgia de reconstrução deu bons resultados na fase atrófica, enquanto o ácido retinóico tópico a 0,05% não foi efetivo. CONCLUSÕES: A elastólise pós-inflamatória e cutis laxa na fase aguda correlacionaram-se com diversas dermatoses inflamatórias, que promoveram elastólise (62%. A abordagem adequada dessas doenças pode diminuir a extensão do quadro atrófico final, que tem como boa opção terapêutica a cirurgia reconstrutora. Sugere-se pesquisar a deficiência de alfa 1-antitripsina.BACKGROUND: Although rare diseases, one third of all cases of post-inflammatory elastolysis and cutis laxa published in the international literature are from the state of Minas Gerais, in Brazil. Reports with long term follow-up of these patients are also scarce. OBJECTIVES: To report nine cases observed from 1981 to 2004 and compare the findings with 20 cases described in the literature. METHODS: Epidemiological, clinical, pathological and therapeutical variables were assessed. RESULTS: The

  5. 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

  6. 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

  7. 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.

  8. Primary multiple miliary osteoma cutis: a case report%原发性多发性粟粒样皮肤骨瘤

    Institute of Scientific and Technical Information of China (English)

    胡蓉; 宋联进; 杨扬; 李廷慧; 马慧军

    2013-01-01

    A case of primary multiple miliary osteoma cutis is reported. A 25-year-old female presented with a 5 year history of light-yellow papules in zonal distribution on her parietal scalp. The lesions gradually increased in number and spread to the forehead and lower eyelids. Histopathological study of biopsy showed multiple ossification and calcification foci as well as osteocytes in the dermis. The diagnosis of primary multiple military, osteoma cutis was made. The differential diagnosis includes comedones, sebaceous nevus, plaque-like osteomas cutis and cutaneous calcinosis.%报告1例头部原发性多发性粟粒样皮肤骨瘤.患者女,25岁.因发现右头顶出现呈带状分布的淡黄色丘疹,进行性增多并延及额部和下眼睑 5年来诊.皮损组织病理检查可见真皮内多个骨化伴钙化灶,可见骨细胞.结合皮疹特点诊断为原发性多发性粟粒样皮肤骨瘤.该病临床需要与粉刺、皮脂腺痣、斑块状皮肤骨瘤、皮肤钙质沉着症相鉴别.

  9. 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...

  10. 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.

  11. 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.)

  12. 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

  13. 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...

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

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    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.

  15. A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita

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    S. A. Kurbatov

    2016-01-01

    Full Text Available Myotonia congenital (MC is the most common form of the hereditary nondystrophic myotonias caused by mutations in the skeletal muscle chloride channel gene (CLCN1 which change the functional features of muscle fibers membrane. MC is represented by two allelic forms with different types of inheritance: Thomsen’s myotonia congenita (TMC with an autosomal dominant and Becker’s myotonia congenita (BMC with an autosomal recessive inheritance. Both forms, TMC and BMC have the same clinical manifestation: skeletal muscle hypertrophy, transient weakness, generalized myotonia, debut in early childhood and a stationary development. Diseases are characterized by equal neurophysiological changes. In the family usually only one patient is detected. In some cases with the horizontal segregation diseases, more than one mutation in CLCN1 gene is found. These factors complicate the diagnosis of TMC and BMC, further medical and genetic counseling of the family members even after the patient’s genotype is detected. The confirmed BMC case with pseudo dominant type of inheritance and limited clinical manifestation is discussed in the light of differential diagnosis of the two discussed diseases. 

  16. New experimental approach to treatment of radiation-induced bone marrow aplasia: ex vivo expansion of hematopoietic cells; Nouvelle approche experimentale du traitement de l`aplasie medullaire radio-induite

    Energy Technology Data Exchange (ETDEWEB)

    Herodin, F.; Mathieu, J.; Drouet, M.; Grenier, N.; Grange, L.; Bourin, P.; Vetillard, J.; Thierry, D.; Mestries, J.C.

    1995-12-31

    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).

  17. Bone marrow pathology in dogs and cats with non-regenerative immune-mediated haemolytic anaemia and pure red cell aplasia.

    Science.gov (United States)

    Weiss, D J

    2008-01-01

    Many dogs and cats with immune-mediated haemolytic anaemia (IMHA) lack a bone marrow erythroid regenerative response. To better understand the failure of the bone marrow to respond to the anaemia, bone marrow pathology associated with non-regenerative IMHA and pure red cell aplasia (PRCA) was reviewed. Eighty-two affected dogs and 57 affected cats were identified from a population presenting to a referral hospital over a 10-year period. Fifty-five dogs had non-regenerative IMHA (38 had bone marrow erythroid hyperplasia and 17 had erythroid maturation arrest) and 27 had pure red cell aplasia (PRCA). Twenty-eight cats had non-regenerative IMHA (24 had erythroid hyperplasia and 4 had erythroid maturation arrest) and 29 had PRCA. A variety of pathological changes were observed in bone marrow aspirates and core biopsy specimens taken from these animals. These changes included dysmyelopoiesis, myelonecrosis, myelofibrosis, interstitial oedema, haemorrhage, acute inflammation, haemophagocytic syndrome, lymphocyte aggregation, and lymphocyte or plasma cell hyperplasia. In both dogs and cats, dysmyelopoiesis, myelonecrosis, myelofibrosis, interstitial oedema, haemorrhage, acute inflammation and haemophagocytic syndrome were primarily noted in bone marrow specimens where there was evidence of erythroid hyperplasia. These animals were also more often neutropenic and thrombocytopenic, and had decreased 60 day survival when compared with dogs or cats with non-regenerative anaemia associated with erythroid maturation arrest or PRCA. Therefore, the pathogenesis of the non-regenerative anaemia in non-regenerative IMHA may involve both antibody-mediated destruction of bone marrow precursor cells and pathological events within the bone marrow that result in ineffective erythropoiesis.

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

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    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.

  19. 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...

  20. 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.

  1. 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.

  2. Cutis verticis gyrata primitif essentiel, une affection cutanée rare: cas clinique et revue de la littérature

    Science.gov (United States)

    Samira, Boukind; Meriem, Dlimi; Oumkeltoum, Elatiqi; Driss, Elamrani; Yassine, Benchamkha; Saloua, Ettalbi

    2014-01-01

    Le cutis verticis gyrata (CVG), du cuir chevelu, est une maladie rare et évolutive de la peau du scalp. Elle est caractérisée par une hypertrophie et une hyperlaxité cutanée formant des plis semblables aux gyri du cortex cérébral. Nous présentons le cas d'une patiente de 21 ans atteinte de CVG primitif essentiel, ayant débuté à l’âge de 8 ans, au niveau du scalp et était d'aggravation progressive. La malade présentait une déformation du scalp avec de nombreux plis longitudinaux et transversaux. Sa demande était motivée par une gêne sociale et esthétique. Une résection chirurgicale de l'excédent cutané dans un plan transversal et longitudinal était réalisée. Le traitement de cette maladie est chirurgical, par l'excision des plis cutanés et remise en tension du scalp. Le nombre et la localisation des incisions doivent préserver la vascularisation des lambeaux de scalp et tenir compte du caractère évolutif de cette pathologie. PMID:25922634

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

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    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

  4. Rare birth defects associated with Morgagni hernia and segmental aplasia of uterine horn in bitch: Case reportDefeitos congênitos raros em cadela – relato de caso

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    Ricardo Santana de Lima

    2013-09-01

    Full Text Available Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic study revealed the presence of rare birth defects as Morgagni hernia and segmental aplasia of the right uterine horn with its attachment to the transverses muscle of abdominis. In association with HM, we observed the presence of dextrocardia and a defect of the abdominal wall supraumbilical characteristic of incompletely Pentalogy of Cantrell’s, syndrome so far described only in humans. In association with segmental aplasia of the uterine horn, we observed the ipsilateral presence of the renal hypoplasia and ureteral agenesis. The diagnosis of those abnormalities was based on anatomical findings and confirmed histologically. Despite the rarity and complexity of the abnormalities first described in bitches, the literature suggested that the prognosis may be favorable to the life of the animal. However, early diagnosis is essential to avoid the potential complications of those diseasesDefeitos congênitos, deformidades ou anormalidades são termos usados para descrever defeitos no desenvolvimento presentes ao nascimento. A maioria destes, como a aplasia segmentar uterina, é de ocorrência rara em cadelas. Relata-se o caso de um cadáver de cadela, sem raça definida, de seis meses de idade, que ao ser submetido ao estudo anatomotopográfico revelou a presença de aplasia segmentar uterina (ASU associada à hérnia de Morgagni (HM, agenesia ureteral (AU e hipoplasia renal direita (HR. Além destas anormalidades, foi observada a presença de dextrocardia e de um defeito da parede abdominal supraumbilical, que caracterizam a forma incompleta da pentalogia de Cantrell, só descrita em humanos. O diagnóstico destas anormalidades foi baseado nos achados anatômicos e confirmado histologicamente. A

  5. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

    Science.gov (United States)

    Shaheen, Ranad; Faqeih, Eissa; Sunker, Asma; Morsy, Heba; Al-Sheddi, Tarfa; Shamseldin, Hanan E; Adly, Nouran; Hashem, Mais; Alkuraya, Fowzan S

    2011-08-12

    Adams-Oliver syndrome (AOS) is defined by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It is usually inherited as an autosomal-dominant trait, but autosomal-recessive inheritance has also been documented. In an individual with autosomal-recessive AOS, we combined autozygome analysis with exome sequencing to identify a homozygous truncating mutation in dedicator of cytokinesis 6 gene (DOCK6) which encodes an atypical guanidine exchange factor (GEF) known to activate two members of the Rho GTPase family: Cdc42 and Rac1. Another homozygous truncating mutation was identified upon targeted sequencing of DOCK6 in an unrelated individual with AOS. Consistent with the established role of Cdc42 and Rac1 in the organization of the actin cytoskeleton, we demonstrate a cellular phenotype typical of a defective actin cytoskeleton in patient cells. These findings, combined with a Dock6 expression profile that is consistent with an AOS phenotype as well as the very recent demonstration of dominant mutations of ARHGAP31 in AOS, establish Cdc42 and Rac1 as key molecules in the pathogenesis of AOS and suggest that other regulators of these Rho GTPase proteins might be good candidates in the quest to define the genetic spectrum of this genetically heterogeneous condition.

  6. 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

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

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    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.

  8. Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC due to NR0B1 mutations.

    Directory of Open Access Journals (Sweden)

    Caroline Galeotti

    Full Text Available 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.

  9. Measurement of Anti-Erythropoiesis-Stimulating Agent IgG4 Antibody as an Indicator of Antibody-Mediated Pure Red Cell Aplasia

    Science.gov (United States)

    Weeraratne, Dohan K.; Kuck, Andrew J.; Chirmule, Narendra

    2013-01-01

    Patients treated with erythropoietin-based erythropoiesis-stimulating agents (ESAs) can develop a rare but life-threatening condition called antibody-mediated pure red cell aplasia (amPRCA). The antibody characteristics in a nephrology patient with amPRCA include high antibody concentrations with neutralizing activity and a mixed IgG subclass including anti-ESA IgG4 antibodies. In contrast, anti-ESA IgG4 antibody is generally not detected in baseline samples and antibody-positive non-PRCA patients. Therefore, we validated a highly sensitive immunoassay on the ImmunoCAP 100 instrument to quantitate anti-ESA IgG4 antibodies using a human recombinant anti-epoetin alfa (EPO) IgG4 antibody as a calibrator. The biotinylated ESA was applied to a streptavidin ImmunoCAP, and bound anti-ESA IgG4 antibodies were detected using a β-galactosidase-conjugated mouse anti-human IgG4 antibody. The validated assay was used to detect anti-ESA IgG4 in amPRCA and non-PRCA patients. The immunoassay detected 15 ng/ml of human anti-EPO IgG4 antibody in the presence of a 200 M excess of human anti-ESA IgG1, IgG2, or IgM antibody and tolerated 2 μg/ml of soluble erythropoietin. All patient samples with confirmed amPRCA had measurable anti-ESA IgG4 antibodies. In addition, 94% (17/18) of non-PRCA patient samples were antibody negative or had below 15 ng/ml of anti-ESA IgG4 antibodies. This novel immunoassay can measure low-nanogram quantities of human anti-ESA IgG4 antibodies in the presence of other anti-ESA antibodies. An increased concentration of anti-ESA IgG4 antibody is associated with the development of amPRCA. We propose that the measurement of anti-ESA specific IgG4 antibodies may facilitate early detection of amPRCA in patients receiving all ESAs structurally related to human erythropoietin. PMID:23114696

  10. Lesões múltiplas de osteoma cutis na face: terapêutica minimamente invasiva em pacientes com sequela de acne - relato de casos Multiple injuries of osteoma skin in the face: therapeutical least invasive in patients with acne sequela - case report

    Directory of Open Access Journals (Sweden)

    Ian Göedert Leite Duarte

    2010-10-01

    Full Text Available Osteoma cutis é a formação óssea no interior da pele, podendo ser primária ou secundária. Única ou múltipla, de tamanhos variados e acometendo ambos os sexos, é uma lesão cutânea rara, de etiopatogenia e classificação ainda discutidas. Nosso objetivo foi relatar o diagnóstico e a terapêutica minimamente invasiva de lesões múltiplas de osteoma cutis na face em pacientes com sequelas de acne. Fizemos a retirada dos osteomas com agulhas BD 0,70 x 25 22G1, sem anestésicos tópicos ou injetáveis no local. As pequenas incisões foram deixadas expostas, com pomada cicatrizante. Obteve-se um excelente resultado estético em 15 dias.Osteoma cutis is a bone formation in the dermis can to be primary or secondary forms. Only, multiples, many forms, occurring on either sex, they are a rare cutaneous disease. The pathogenesis and classification remains unclear. Our objective was the diagnostic and small invasive surgery treatment of the osteoma cutis multiple of the face, in patients as a sequel of acne. To remove the osteoma we used needle BD 0,70x25 22G1, without anesthetic topic or inject able site. The small wounds were exposed with scarring balsam. We got an excellent esthetic result after 15 days.

  11. 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 ...

  12. 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.

  13. 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

  14. X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1 and MAGEB1–4 Genes

    Directory of Open Access Journals (Sweden)

    Aleksandra Rojek

    2016-01-01

    Full Text Available X-linked Adrenal Hypoplasia Congenita (AHC is caused by deletions or point mutations in the NR0B1 (DAX1 gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laboratory studies showed prominent hyponatremia and hyperkaliemia but not hypoglycemia. Primary adrenal insufficiency was confirmed with low serum cortisol levels and high plasma ACTH levels. Hydrocortisone therapy combined with saline and glucose infusions was started immediately after blood collection. Two exons of the NR0B1 (DAX1 gene were impossible to amplify using the standard PCR method. Array CGH was used to confirm the putative copy-number variation of NR0B1 (DAX1 revealing a novel hemizygous deletion encompassing the entire NR0B1 (DAX1 gene together with the MAGEB genes. This genetic defect was also present in heterozygosity in the patient’s mother. We show that NR0B1 (DAX1 gene analysis is important for confirmation of AHC diagnosis and highlights the role of genetic counseling in families with AHC patients, particularly those with X chromosome microdeletions, covering more than NR0B1 (DAX1 alone. We hope that further clinical follow-up of this patient and his family will shed a new light on the role of MAGEB genes.

  15. X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

    Science.gov (United States)

    Rojek, Aleksandra; Krawczynski, Maciej R; Jamsheer, Aleksander; Sowinska-Seidler, Anna; Iwaniszewska, Barbara; Malunowicz, Ewa; Niedziela, Marek

    2016-01-01

    X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laboratory studies showed prominent hyponatremia and hyperkaliemia but not hypoglycemia. Primary adrenal insufficiency was confirmed with low serum cortisol levels and high plasma ACTH levels. Hydrocortisone therapy combined with saline and glucose infusions was started immediately after blood collection. Two exons of the NR0B1 (DAX1) gene were impossible to amplify using the standard PCR method. Array CGH was used to confirm the putative copy-number variation of NR0B1 (DAX1) revealing a novel hemizygous deletion encompassing the entire NR0B1 (DAX1) gene together with the MAGEB genes. This genetic defect was also present in heterozygosity in the patient's mother. We show that NR0B1 (DAX1) gene analysis is important for confirmation of AHC diagnosis and highlights the role of genetic counseling in families with AHC patients, particularly those with X chromosome microdeletions, covering more than NR0B1 (DAX1) alone. We hope that further clinical follow-up of this patient and his family will shed a new light on the role of MAGEB genes. PMID:27656210

  16. Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene.

    Science.gov (United States)

    Lee, Y-W; Won, J C; Ki, C-S; Lee, H Y; Ahn, H S; Lee, Y K; Kim, Y H; Kim, C-H

    2008-01-01

    Adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene on chromosome Xp21.3-p21.2. It manifests as X-linked primary adrenal failure in early infancy or childhood and as hypogonadotropic hypogonadism (HHG) at puberty. Although studies of AHC patients and mutations in the NR0B1 gene have been reported throughout the world, there has previously been only one other case report from Korea. We encountered a 23-year old Korean male with delayed-onset AHC/HHG who had been previously diagnosed with adrenal insufficiency of unknown aetiology at age 13 years. Delayed puberty and incomplete HHG were observed. Direct sequencing of the NR0B1 gene revealed the patient to have a novel insertion mutation (c.959_960insT; Leu321ProfsX68). Although AHC is believed to be rare, it should be considered in a differential diagnosis of patients showing late-onset primary adrenal insufficiency.

  17. 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

  18. Birth defects after early pregnancy use of antithyroid drugs

    DEFF Research Database (Denmark)

    Andersen, Stine Linding; Olsen, Jørn; Wu, Chunsen;

    2013-01-01

    OR of birth defects. MMI/CMZ and PTU were associated with urinary system malformation, and PTU with malformations in the face and neck region. Choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, and aplasia cutis were common in MMI/CMZ-exposed children (combined, adjusted...

  19. Skin.

    Science.gov (United States)

    Mancini, Anthony J

    2004-04-01

    Human skin provides a barrier between the host and the physical, chemical, and biological environment. It is also a potential portal of entry for hazardous or infectious agents and a potential target of environmental toxins. Cutaneous vulnerability may take on many forms in the embryo, infant, child, and adolescent. Teratogenic agents may occasionally target skin, as appreciated in the proposed association of the antithyroid medication methimazole, with the congenital malformation known as aplasia cutis congenita. Percutaneous absorption of topically applied substances and the potential for resultant drug toxicities are important considerations in the child. Many topical agents have been associated with systemic toxicity, including alcohol, hexachlorophene, iodine-containing compounds, eutectic mixture of local anesthetics, and lindane. Percutaneous toxicity is of greatest concern in the premature infant, in whom immaturity of the epidermal permeability barrier results in disproportionately increased absorption. Immature drug metabolism capabilities may further contribute to the increased risk in this population. Ultraviolet (UV) radiation exposure, which increases an individual's risk of cutaneous carcinogenesis, may be a particularly significant risk factor when it occurs during childhood. The "critical period hypothesis" suggests that UV exposure early in life increases the risk of eventual development of malignant melanoma. Other risk factors for malignant melanoma may include severe sunburns during childhood, intense intermittent UV exposure, and increased susceptibility of pediatric melanocytes to UV-induced DNA damage. Last, percutaneous exposure to environmental toxins and chemicals, such as insecticides and polychlorinated biphenyls, may differ between children and adults for several reasons, including behavioral patterns, anatomic and physiologic variations, and developmental differences of vital organs. PMID:15060207

  20. 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.

  1. 先天性角化不良与端粒酶、端粒相关基因的研究进展%Telomerase and telomere in dyskeratosis congenita

    Institute of Scientific and Technical Information of China (English)

    刘香; 邓伟平

    2011-01-01

    先天性角化不良是一种具有遗传异质性的皮肤遗传病,其临床特征为黏膜白斑、甲营养不良、皮肤异色症、骨髓衰竭、肿瘤易感性以及其他系统损害.目前研究表明,其发病与端粒的长度缩短相关.端粒酶组分的基因突变可导致端粒酶活性的降低,使端粒缩短.概述引起端粒酶活性降低、端粒缩短的端粒酶组分的多个相关基因的研究进展,进一步阐明先天性角化不良的发病机制.%Dyskeratosis congenita (DC) is a rare skin disorder with heterogeneity, which is characterized by mucosal leukoplakia, nail dystrophy, abnormal skin pigmentation, bone marrow failure, cancer predisposition and other system damage. Currently, it is revealed that the pathogenesis of DC is related to the shortening of telomere length. Gene mutation of telomerase complex may result in a decline in telomerase activity and shortening of telomere length. This paper presents the advances in researches of telomerase complex genes responsible for reduction in telomerase activity and shortening of telomerase length, which may facilitate further elucidation of DC pathogenesis.

  2. 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

  3. 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.

  4. Management of airway for scoliosis patients associated with arthrogryposis multiplex congenita%先天性多发性关节挛缩症伴脊柱侧凸患者气道管理

    Institute of Scientific and Technical Information of China (English)

    刘延军; 马正良; 顾小萍

    2015-01-01

    Objective To summarize the experience of management of airway in scoliosis patients associated with arthrogryposis multiplex congenita (AMC).Methods The medical records of twenty scoliosis patients associated with AMC undergoing spinal corrective surgery in our hospital were retrospectively reviewed.There were twelve male patients and eight female patients in our study.The age of patients averaged at (14.9±3.7) years, ranging from 9 to 24 years.The median degree of preoperative Cobb angle was 90 degrees, with the maximum Cobb angle of 147 degrees.The following data were recorded: the grade of Mallampati,the results of pulmonary function tests, whether it was difficult airway or not, the special instrument for intubation, whether it was admitted to intensive care unit (ICU) or not after surgery, and the time from end of surgery to tracheal extubation.Results The cases of Mallampati Ⅰ , Ⅱ, Ⅲ, and Ⅳ grade was 3 (15%), 9(45%), 5(25%), and 3(15%), respectively.All patients suffered from pulmonary dysfunction.The cases of mild, moderate and severe preoperative pulmonary dysfunction was 1 (5%), 4 (20%) and 15 (75%), respectively.Five patients with anticipated difficult airway were successfully intubated via fiber bronchoscope.After surgery,seven patients with difficult tracheal extubation caused by lung ventilation dysfunction were admitted to ICU to monitor vital signs closely.The time from end of surgery to tracheal extubation varied greatly, ranging from 10 min to 1 115 min.Conclusions The patient's airway should be thoroughly examined by the attending anesthesiologists during preoperative interview, whose attention should be focused on assessing difficult airway, especially for difficult intubation.The anesthetists should make well preparations for difficult airway, especially for difficult intubation, including emergency drugs, and special instruments for intubation.%目的 总结先天性多发性关节挛缩症(arthrogryposis multiplex

  5. Cutis Marmorata Telangiectatica and Chiari Type I

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-12-01

    Full Text Available A 10-year-old girl born with telangiectasias of the lip, trunk, extremities, palms, and soles was found to have an asymptomatic Chiari I malformation without syringomyelia on MRI, and is reported from Children’s Hospital, Alabama.

  6. 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

  7. 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.

  8. 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 ...

  9. 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。

  10. DAX-1基因新的移码突变导致一例迟发型先天性肾上腺发育不良症%One case of late-onset adrenal hypoplasia congenita caused by a novel mutation of DAX-1 gene

    Institute of Scientific and Technical Information of China (English)

    王丹萍; 陈存仁; 刘艳霞; 汪丽娟; 栗夏连

    2011-01-01

    A novel hemizygous frameshift mutation in exon1of DAX-1 gene (993delC) was found in a patient with late-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism.This mutation led the stop codon to appear in advance of 59 amino acids.His mother and two sisters were the carriers of this hemizygous mutation while his father and brother were wild-type.After glucocorticoid hormone replacement therapy, the clinical symptom was improved, but the level of ACTH was not suppressed.%本研究发现1例先天性肾上腺发育不良症和低促性腺激素性性腺功能减退症患者DAX-1基因第一外显子处993delC新型移码突变,导致终止密码子提前59个氨基酸出现,其母亲、大姐及二姐均为杂合突变,父亲及哥哥为正常野生型.患者糖皮质激素替代治疗后,症状改善,但ACTH未被抑制.

  11. 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

  12. 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

  13. Acquired Localized Cutis Laxa due to Increased Elastin Turnover

    DEFF Research Database (Denmark)

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

    2016-01-01

    and total RNA. Levels of an apparent tropoelastin degradation product were higher in the affected area. Fibroblast cultures from the affected area were able to produce elastin and showed higher proliferation and survival after oxidative and UVB stress compared to fibroblasts from the unaffected area...

  14. 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.

  15. 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.

  16. 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 ...

  17. Enfermedad de Chagas-Mazza congenita en Salta

    Directory of Open Access Journals (Sweden)

    Contreras Silvia

    1999-01-01

    Full Text Available 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 para llevar a cabo el diagnóstico de esta enfermedad en el recién nacido. Se ha propuesto un flujograma para el seguimiento de la infección por T. cruzi en el recién nacido.

  18. 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.

  19. 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

  20. 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)

  1. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

    Science.gov (United States)

    Brady, Paul D; Van Esch, Hilde; Fieremans, Nathalie; Froyen, Guy; Slavotinek, Anne; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris R

    2015-04-01

    Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range.

  2. 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.

  3. 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

  4. Clinical Presentation of a Patient with Localized Acquired Cutis Laxa of Abdomen: A Case Report

    Directory of Open Access Journals (Sweden)

    Tugomir Gverić

    2010-01-01

    Objective. The aim of this case report was to present our patient suffering from CL, and to evaluate clinical presentation, diagnostic and therapeutic difficulties in this rare condition. Case Report. A 30-year-old female patient was admitted to our Hospital due to localized loose and sagging skin of abdomen, induced by prior cesarean section 6 years ago. CL has been diagnosed based on the clinical picture and pathohistological appearance. Conclusion. Reconstructive surgery provides a dramatic cosmetic improvement with significant psychosocial benefit. Repeated surgical procedures may be required to correct the lax skin, which worsens with age.

  5. 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....

  6. 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...

  7. Congenital generalized lipodystrophia: a case report; Lipodistrofia generalizada congenita: relato de um caso

    Energy Technology Data Exchange (ETDEWEB)

    Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V. [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

    1995-01-01

    Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs.

  8. 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].

  9. Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita : three new cases and review of the literature

    NARCIS (Netherlands)

    Sombekke, B H; Molenaar, W M; Essen, A J van; Schoots, C J

    1994-01-01

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multipl

  10. 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.

  11. 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.

  12. 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

  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. 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 ...

  15. Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita.

    Science.gov (United States)

    Nishio, Nobuhiro; Takahashi, Yoshiyuki; Ohashi, Haruhiko; Doisaki, Sayoko; Muramatsu, Hideki; Hama, Asahito; Shimada, Akira; Yagasaki, Hiroshi; Kojima, Seiji

    2011-03-01

    DC is an inherited bone marrow failure syndrome mainly characterized by nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Bone marrow failure is the most common cause of death in patients with DC. Because previous results of HSCT with a myeloablative regimen were disappointing, we used a reduced-intensity conditioning regimen for two patients with classic DC, and one patient with cryptic DC who harbored the TERT mutation. Graft sources included two mismatched-related bone marrow (BM) donors and one unrelated BM donor. Successful engraftment was achieved with few regimen-related toxicities in all patients. They were alive 10, 66, and 72 months after transplantation, respectively. Long-term follow-up is crucial to determine the late effects of our conditioning regimen.

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

    Directory of Open Access Journals (Sweden)

    Дмитрий Степанович Буклаев

    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.

  17. 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...

  18. 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)

  19. 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.

  20. 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.

  1. Primary osteoma cutis-A Case Report%原发性皮肤骨瘤1例

    Institute of Scientific and Technical Information of China (English)

    樊翌明; 李顺凡; 吴志华

    2001-01-01

    报道1例原发性皮肤骨瘤.女性患者,38岁.右小腿伸侧蚕豆大小圆形皮内结节,质硬,无压痛.血清钙磷水平正常.组织病理检查显示真皮内纤维性骨小梁形成及钙盐沉着.

  2. 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;

    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...

  3. 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

  4. La enfermedad de Chagas congenita en la Provincia de Salta, Argentina, años 1980-1997

    Directory of Open Access Journals (Sweden)

    Zaidenberg Mario

    1999-01-01

    Full Text Available Se presenta la experiencia de 18 años en la provincia de Salta en el manejo de recién nacidos con enfermedad de Chagas congénita. Desde distintos ámbitos del sistema provincial de salud, el Hospital Materno-infantil de la ciudad de Salta, hospitales del interior y la atención ambulatoria se detectaron y diagnosticaron 102 recién nacidos (RN y lactantes con infección congénita. Los RN se dividieron en dos grupos mayores, el último subdivido, de acuerdo a la oportunidad diagnóstica. Se describe la metodología diagnóstica, presentación clínica, tratamiento y el seguimiento posterior de los niños tratados. Se analizan las características de la experiencia y se discuten las condiciones específicas del diagnóstico, tratamiento y seguimiento de los niños estudiados. Se describen las recomendaciones empleadas en la provincia en el programa de control de Chagas perinatal así como las conclusiones derivadas de esta experiencia.

  5. 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

  6. 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

  7. 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

  8. 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)

  9. 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.)

  10. Morphological study of bone marrow to assess the effects of lead acetate on haemopoiesis and aplasia and the ameliorating role of Carica papaya extract.

    Science.gov (United States)

    Tham, Ching S; Chakravarthi, Srikumar; Haleagrahara, Nagaraja; DE Alwis, Ranjit

    2013-02-01

    Lead causes damage to the body by inducing oxidative stress. The sites of damage include the bone marrow, where marrow hypoplasia and osteosclerosis may be observed. Leaves of Carica papaya, which have antioxidant and haemopoietic properties, were tested against the effect of lead acetate in experimental rats. The rats were divided into 8 groups; control, lead acetate only, Carica papaya (50 mg and 200 mg), post-treatment with Carica papaya (50 mg and 200 mg) following lead acetate administration and pre-treatment with Carica papaya (50 mg and 200 mg) followed by lead acetate administration. The substances were administered for 14 days. The effects were evaluated by measuring protein carbonyl content (PCC) and glutathione content (GC) in the bone marrow. Histological changes in the bone marrow were also observed. The results showed that Carica papaya induced a significant reduction in the PCC activity and significantly increased the GC in the bone marrow. Carica papaya also improved the histology of the bone marrow compared with that of the lead acetate-treated group. In summary, Carica papaya was effective against the oxidative damage caused by lead acetate in the bone marrow and had a stimulatory effect on haemopoiesis.

  11. 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.

  12. 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.

  13. 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 ...

  14. Disease: H00705 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available n disease); Autosomal recessive myotonia congenita (Becker disease); Fluctuating myotonia congenita; Myotoni...congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker...le stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker...or and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associa

  15. [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

  16. Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?

    NARCIS (Netherlands)

    E.F. Belligni; I. Dokal; R.C.M. Hennekam

    2011-01-01

    Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, palmoplantar hyperkeratosis and other ectodermal symptoms. The disorders differ in their primary pigmentation locali

  17. Amiotrofia neuro-medular de Charcot-Marie-Tooth associada a artrogripose multipla congenita: registro de um caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    James Pitagoras de Mattos

    1982-09-01

    Full Text Available Os autores registram a associação da amiotrofia neuro-medular de Charcot-Marie-Tooth com artrogripose múltipla congênita. Mostram as associações com as duas condições em apreço na literatura, assim como acrescentam outras alterações observadas nos diversos exames radiológicos realizados.

  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. 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

  20. Disease: H00507 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available essive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative... variants of dyskeratosis congenita has been reported in which additional finding

  1. Investigation of the Genetics of Hematologic Diseases

    Science.gov (United States)

    2016-09-21

    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

  2. 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)

  3. 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) ...

  4. 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

    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 genoty...

  5. 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.

  6. 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

  7. 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

  8. Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

    Science.gov (United States)

    2016-04-26

    Thalassemia; Sickle Cell Disease; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic-granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Schwachman-Diamond Syndrome; Diamond-Blackfan Anemia; Fanconi Anemia; Dyskeratosis-congenita; Chediak-Higashi Syndrome; Severe Aplastic Anemia

  9. Artrogripozis Multipleks Konjenita ve Anestezi: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

    OpenAIRE

    Karaman, Serkan; Karaman, Tuğba; Doğru, Serkan; Şahin, Aynur; Tapar, Hakan

    2014-01-01

    Arthrogryposis Multiplex Congenita is a term that describes a  rare congenital syndrome. Clinical features is characterized by  multiple joint contractures that requires recurrent surgical  interventions. Various system anomalies can be associated with this  syndrome. The anesthesia management of a patient with  Arthrogryposis Multiplex Congenita may lead to several challenges  including difficult airway, difficult venous access and malign  hyperthermia. In this case report, we aimed to prese...

  10. 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

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

    Science.gov (United States)

    2016-10-03

    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

  12. 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. ...

  13. Disease: H00906 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome Macrocephaly, alopecia...oven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E RIN2 deficiency results in macrocephaly, alopecia

  14. 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...

  15. 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) ...

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. [Structural congenital myopathies].

    Science.gov (United States)

    Erazo-Torricelli, Ricardo

    2013-09-01

    Introduccion. Las miopatias congenitas son un grupo heterogeneo de enfermedades que comparten clinica de inicio precoz y alteraciones histopatologicas musculares especificas. El estudio genetico permite determinar la mutacion causal en la mayoria de los casos. Existe heterogeneidad fenotipica y genotipica, lo que se ilustra al observar que un genotipo puede expresarse en mas de una forma clinicopatologica y un fenotipo puede estar causado por diferentes mutaciones geneticas. Desarrollo. En esta revision, se detallan las caracteristicas de las principales miopatias congenitas que permiten su identificacion clinica, patologica y genetica. Se describen los hallazgos de la biopsia muscular que constituyen el principal pilar diagnostico. Se enfatiza y se detalla la importancia del diagnostico diferencial, descartando otras patologias que se presentan con hipotonia en la lactancia o el periodo neonatal. Se destacan las formas neonatales graves (nemalinica, miotubular ligada al X) que se deben identificar precozmente para establecer el pronostico y brindar un consejo genetico adecuado. Se subrayan las mutaciones del gen rianodina (RYR1) por su asociacion a la hipertermia maligna y las mutaciones de la selenoproteina 1 (SEPN1) y la miopatia nemalinica por su asociacion a hipoventilacion nocturna. Conclusiones. El conocimiento profundo de las miopatias estructurales congenitas facilita la confirmacion diagnostica de la miopatia congenita, lo que permite la aplicacion oportuna de medidas relacionadas con la respiracion y la alimentacion de los casos mas graves y con la optimizacion de la funcion motora en todos los pacientes con miopatia congenita.

  1. Distribution of tetrodotoxin in the ribbon worm Lineus alborostratus (Takakura, 1898) (nemertea): Immunoelectron and immunofluorescence studies.

    Science.gov (United States)

    Magarlamov, Timur Yu; Shokur, Olga A; Chernyshev, Alexey V

    2016-03-15

    Transmission electron and confocal laser scanning (CLSM) microscopies with monoclonal anti-tetrodotoxin antibodies were used to locate tetrodotoxin (TTX) in tissues and gland cells of the ribbon worm Lineus alborostratus. CLSM studies have shown that the toxin is primarily localized in the cutis (special subepidermal layer) of the body wall and in the glandular epithelium of the proboscis. Immunoelectron micrographs have shown that only subepidermal bacillary gland cells type I in cutis and pseudocnidae-containing and mucoid gland cells manifested TTX-gold labeling. TTX was associated with the nuclear envelope, endoplasmic reticulum membrane, and secretory granules of TTX-positive gland cells. These studies indicate that ТТХ is brought into the cytoplasm of the glandular cells of the cutis and proboscis epithelium, where it is associated with membrane-enclosed organelles involved in protein secretion and then concentrated in glandular granules. PMID:26821373

  2. 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.)

  3. Disease: H01286 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01286 Microtia hearing impairment and cleft palate (MHICP) Microtia is a congenita...l anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing...OXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate. Developmental disor

  4. Disease: H00684 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ A large mutational study in pachyony...tations cause pachyonychia congenita. Nat Genet 9:273-8 (1995) PMID:9618173 (gene) Smith FJ, Jonkman MF, van

  5. 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

  6. 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.

  7. D-penicillamine induced degenerative dermopathy

    Directory of Open Access Journals (Sweden)

    Sujay Khandpur

    2015-01-01

    Full Text Available D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson′s disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy manifesting as skin fragility over pressure sites and cutis laxa-like changes.

  8. 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...

  9. 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

  10. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

    NARCIS (Netherlands)

    Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D.J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E.C.; Abuelo, D.N.; Adamowicz, M.; Al-Aama, J.Y.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M.T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Turkmen, S.; Tuysuz, B.; Yuksel-Konuk, B.; Mundlos, S.; Maldergem, L. van; Wevers, R.A.; Urban, Z.

    2009-01-01

    Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental delay and redundant, inelastic skin, is caused by mutations in the a2 subunit of the vesicular ATPase H+-pump (ATP6V0A2). The goal of this study was to define the disease mechanisms that lead to connective tissue l

  11. 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.)

  12. 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

  13. 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

  14. 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

  15. 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

  16. Mutations in the human TBX4 gene cause small patella syndrome.

    NARCIS (Netherlands)

    Bongers, M.H.F.; Duijf, P.H.; Beersum, S.E.C. van; Schoots, J.; Kampen, A. van; Burckhardt, A.; Hamel, B.C.J.; Losan, F.; Hoefsloot, L.H.; Yntema, H.G.; Knoers, N.V.A.M.; Bokhoven, J.H.L.M. van

    2004-01-01

    Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22

  17. 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

  18. 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

  19. Maxillary sinus agenesis - report of two cases; Agenesia do seio maxilar - relato de dois casos

    Energy Technology Data Exchange (ETDEWEB)

    Pierre, Jorge Henrique Arraes de Alencar; Santana, Expedito Araujo

    2000-04-01

    Agenesis or aplasia of the maxillary sinuses is an extremely rare condition, and only eight cases have been reported in the world medical literature. These malformations may arise as a result of developmental defects. Two cases of unilateral agenesis of the maxillary sinus are presented and the radiological abnormalities and the embryology are discussed. The literature is also reviewed. (author)

  20. 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

  1. 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

  2. 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

  3. Bacterial flora of the sigmoid neovagina

    NARCIS (Netherlands)

    T.A. Toolenaar; I. Freundt (Ingrid); J.H. Wagenvoort; F.J. Huikeshoven (Frans); M. Vogel; J. Jeekel (Hans); A.C. Drogendijk

    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 low

  4. 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

  5. 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

  6. Radiologic findings of nail-pateIIa syndrome: case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Sung Bin [Seoul Regional Military Manpower Office, Seoul (Korea, Republic of); Yoo, Jeong Su [Military Manpower Administration, Daejeon (Korea, Republic of)

    2004-09-01

    Nail-patella syndrome is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, pateller aplasia or hypoplasia, iliac horns, and dysplasia or dislocation of the elbow. We experienced a case of nail-patella syndrome. NPS is a relatively uncommon disease; however, an understanding of the typical radiologic findings is useful in establishing the diagnosis and guiding the treatment.

  7. 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.

  8. 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.

  9. Microphthalmia with linear skin defects syndrome.

    Science.gov (United States)

    García-Rabasco, Ana; De-Unamuno, Blanca; Martínez, Francisco; Febrer-Bosch, Isabel; Alegre-de-Miquel, Víctor

    2013-01-01

    Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.

  10. 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...

  11. 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...

  12. Thymoma associated with severe diarrhoea and anaemia

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    @@ About 40% of patients with thymoma have one or more paraneoplastic syndromes, including myasthenia gravis, pure red cell aplasia (PRCA) or hypogammaglobulinaemia, but Good syndrome occurs in only 5% of these conditions. To our knowledge, only 11 patients (including our cases) of thymoma accompanied with PRCA and Good syndrome have been reported,1 however, no such case was reported in China before 2000.

  13. 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)

  14. 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

  15. 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...

  16. 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

  17. 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...

  18. 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...

  19. 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...

  20. 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...

  1. 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.

  2. 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.

  3. 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...

  4. Building models for keratin disorders.

    Science.gov (United States)

    Koster, Maranke I

    2012-05-01

    Palmoplantar keratoderma is a hallmark of pachyonychia congenita (PC) and focal non-epidermolytic palmoplantar keratoderma (FNEPPK). By generating keratin 16 (Krt16)-deficient mice, Lessard and Coulombe, as described in this issue, have generated a mouse model to replicate these palmoplantar lesions. Studies using this model may provide novel insights into the molecular mechanisms responsible for the formation of palmoplantar lesions in PC and FNEPPK patients.

  5. 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...

  6. Telomere length in patients with dyskeratosis congenital in a Chinese family%中国一先天性角化不良家系患者端粒长度测量

    Institute of Scientific and Technical Information of China (English)

    刘香; 李喜英; 邓伟平; 董秀芹; 张露霞; 胡峥峥

    2012-01-01

    目的 研究一X连锁先天性角化不良(dyskeratosis congenita,DC)家系患者端粒长度与临床表型轻重关系.方法 采用荧光定量PCR方法,对DC患者、DC家系正常人、正常对照组进行端粒长度测量,结果进行两样本间的t检验.同时对患者进行全身体格检查和血液学、肺通气等实验室检查.结果 此家系DC患者、家系正常人与正常对照组相比端粒长度差异无统计学意义(t =0.827,P>0.05),患者实验室检查未见异常.结论 此家系DC患者端粒长度与正常对照组相比差异无统计学意义.患者临床表型为轻型.%Objective To investigate the relationship between telomere length and phenotype of patients with X-linked dyskeratosis congenita ( DC ) in a Chinese family.Method Telomere lengths were measured by fluorescent quantitative polymerase chain reaction ( PCR ).We studied patients with dyskeratosis congenita,unaffected relatives in the family and control subjects.Analysis was carried out by Ttest.Physical examination,hematological study and lung function of all affected subjects were also documented.Results There was no significant difference in the telomere length among patients,the control subjects and the unaffected relatives ( t =0.827,P > 0.05 ).Laboratory examinations of patients were normal.Conclusion There is no length change of telomere in the patients with dykseratosis congenita.

  7. [Corneal lesions in ichthyosis (author's transl)].

    Science.gov (United States)

    Hammerstein, W; Meiers, H G; Haensch, R

    1975-06-01

    The authors report about observations they made in two sisters. One sister showed a fibroid degeneration of the cornea, the other a band-shaped keratopathy respectively, together with an ichthyosis and an alopecia as a result of capillary fractures due to pili torti. An autosomal recessive hereditary transmission could be determined. The cutaneous lesion is either an ichthyosis vulgaris, the hereditary transmission of which could not yet be confirmed, or it is a transition form of ichthyosis vulgaris and congenita.

  8. 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...

  9. Elastic fibres in health and disease.

    Science.gov (United States)

    Baldwin, Andrew K; Simpson, Andreja; Steer, Ruth; Cain, Stuart A; Kielty, Cay M

    2013-08-20

    Elastic fibres are insoluble components of the extracellular matrix of dynamic connective tissues such as skin, arteries, lungs and ligaments. They are laid down during development, and comprise a cross-linked elastin core within a template of fibrillin-based microfibrils. Their function is to endow tissues with the property of elastic recoil, and they also regulate the bioavailability of transforming growth factor β. Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause supravalvular aortic stenosis and autosomal dominant cutis laxa, mutations in fibrillin-1 cause Marfan syndrome and Weill-Marchesani syndrome, and mutations in fibulins-4 and -5 cause autosomal recessive cutis laxa. Acquired elastic fibre defects include dermal elastosis, whereas inflammatory damage to fibres contributes to pathologies such as pulmonary emphysema and vascular disease. This review outlines the latest understanding of the composition and assembly of elastic fibres, and describes elastic fibre diseases and current therapeutic approaches.

  10. EFFICIENCY OF DIFFERENT METHODS OF USING THE NON TRANSDUCING E. COLI BACTERIOPHAGES FOR PROPHYLAXIS OF POST-WEANING DIARRHEA OF PIGS Эффективность различных способов применения нетрансдуцирующих бактериофагов e.coli для профилактики пост-отъёмной диареи поросят

    Directory of Open Access Journals (Sweden)

    Skoblikov N. E.

    2012-04-01

    Full Text Available The influence of four experimental phage preparations, designed based on non-transducing E. coli bacteriophages on pigs with post-weaning diarrhea studied. The influence of these phages in depending by methods of its applying (per os and intra cutis on coli-titer and coli-phages titer studied. It is established, that the best survival rate and the clinical condition showed animals treated with the E. coli phage T4-type with lab. number «8» (till 5,52 lg CFU/g at 37-days age in parallel with an increase in titer of phages (till 5,73 lg CFU/g at 40-days age. Intradermal (intra cutis method of applying of experimental phage preparations (constructed on basis of phage “6” and phage “8” showed the some positive effects on correction of negative dynamics of coli-phages titer in control group

  11. 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

  12. 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.

  13. 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...

  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. „FREUFACH“ Radio - Ein Erfahrungsbericht

    Directory of Open Access Journals (Sweden)

    Helmut Hostnig

    2011-06-01

    Full Text Available Erste Erfahrungen des Radioprojektes "Radiopoly" an der Polytechnischen Schule Wien 3 zeigen, dass Lernen mehr sein kann als einfache Wissensvermittlung und komplexes Sprachverständnis auch Spass machen kann. Host scho g’kört? Che che? Wos’n. Wos’n? Cuti bre, Tikkat. Pass auf! Slushaj! Ich sag’s dir jetzt, aber du darfst es nicht weiter sagen. I schwör’s. Jetzt red scho. Z’erscht schwörst!

  16. [Progress in genetic research on pachydermoperiostosis].

    Science.gov (United States)

    Du, Ran; Fan, Liangliang; Huang, Hao; Xiang, Rong

    2016-02-01

    Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease. PMID:26829746

  17. 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...

  18. 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...

  19. 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,...

  20. 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...

  1. Preparation, antibacterial effects and corrosion resistant of porous Cu–TiO{sub 2} coatings

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Haibo; Zhang, Xiangyu, E-mail: zhangxiangyu@tyut.edu.cn; Geng, Zhenhua; Yin, Yan; Hang, Ruiqiang; Huang, Xiaobo; Yao, Xiaohong; Tang, Bin

    2014-07-01

    Antibacterial TiO{sub 2} coatings with different concentrations of Cu (Cu–TiO{sub 2}) were prepared by micro-arc oxidation (MAO) on pre-sputtered CuTi films. The effect of Cu concentrations in CuTi films on the MAO process was investigated. The Cu–TiO{sub 2} coatings were analyzed by scanning electron microscopy (SEM), X-ray photoelectron spectroscopy (XPS) and X-ray diffraction (XRD). The corrosion resistance of Cu–TiO{sub 2} coatings was evaluated via potentiodynamic polarization method. The antibacterial properties were assessed by two methods: spread plate method and fluorescence staining. The experimental results demonstrate that the coatings are porous and consist of anatase phase, rutile phase and unoxidized titanium. The CuTi films are almost completely oxidized and the thickness of all MAO coatings is about 5–10 μm. Cu mainly exists as CuO in the TiO{sub 2} coatings. The Cu–TiO{sub 2} coatings exhibit excellent antibacterial activities, and the antibacterial rate gradually rise with the increase in Cu concentration in the MAO coatings. The corrosion resistance of MAO coatings is also improved slightly.

  2. Ertapenem for the treatment of complicated urinary tract infections caused by extended-spectrum AND#946;-lactamase-producing bacteria: a case series report

    Directory of Open Access Journals (Sweden)

    Dilek Yildiz Sevgi

    2014-02-01

    Full Text Available Urinary tract infections with extended-spectrum beta-lactamases (ESBL are an increasing public health concern. We evaluated our experience with the use of ertapenem for complicated urinary tract infections (cUTI caused by ESBL- producing bacteria. Sixty-four patients aged >18 years who had a cUTI caused by ESBL- producing microorganisms that were treated with ertapenem at Sisli Etfal Training and Research Hospital, from January 1st, 2010 to December 31st, 2011, were included in this study. Data on patients demographic, clinical and laboratory results were collected. The median age was 65.8 years (range, 30 to 95. All patients had at least one risk factor complicating factor except two of them. The most common underlying problem was prior antibiotic exposure. The pathogens isolated from urine samples were ESBL-producing E. coli in 49, ESBL-producing K. pneumoniae in 12 and ESBL-producing K. oxytoca in 2 patients. All were susceptible to ertapenem in vitro. The average duration of ertapenem therapy was 14+/-4 days for upper UTI and 11+/-2 days for lower UTI. All patients achieved clinical cure and bacteriological eradication in urine. One patient had relapse and six of them had reinfection. Only one case had diarrhea which did not require discontinuation of therapy. Our results demonstrate that ertapenem is suitable for the treatment of cUTI cause by ESBL-producing bacteria. [Dis Mol Med 2014; 2(1.000: 7-11

  3. Ceftolozane/tazobactam pharmacokinetic/pharmacodynamic-derived dose justification for phase 3 studies in patients with nosocomial pneumonia.

    Science.gov (United States)

    Xiao, Alan J; Miller, Benjamin W; Huntington, Jennifer A; Nicolau, David P

    2016-01-01

    Ceftolozane/tazobactam is an antipseudomonal antibacterial approved for the treatment of complicated urinary tract infections (cUTIs) and complicated intra-abdominal infections (cIAIs) and in phase 3 clinical development for treatment of nosocomial pneumonia. A population pharmacokinetic (PK) model with the plasma-to-epithelial lining fluid (ELF) kinetics of ceftolozane/tazobactam was used to justify dosing regimens for patients with nosocomial pneumonia in phase 3 studies. Monte Carlo simulations were performed to determine ceftolozane/tazobactam dosing regimens with a > 90% probability of target attainment (PTA) for a range of pharmacokinetic/pharmacodynamic targets at relevant minimum inhibitory concentrations (MICs) for key pathogens in nosocomial pneumonia. With a plasma-to-ELF penetration ratio of approximately 50%, as observed from an ELF PK study, a doubling of the current dose regimens for different renal functions that are approved for cUTIs and cIAIs is needed to achieve > 90% PTA for nosocomial pneumonia. For example, a 3-g dose of ceftolozane/tazobactam for nosocomial pneumonia patients with normal renal function is needed to achieve a > 90% PTA (actual 98%) for the 1-log kill target against pathogens with an MIC of ≤ 8 mg/L in ELF, compared with the 1.5-g dose approved for cIAIs and cUTIs.

  4. Prevalence and patient characteristics of Mayer-Rokitansky-Küster-Hauser syndrome

    DEFF Research Database (Denmark)

    Herlin, Morten; Bjørn, Anne-Mette Bay; Rasmussen, Maria;

    2016-01-01

    to be around 1 in 4000-5000 females. However, population-based prevalence studies of MRKH syndrome are sparse. Moreover, population-based data on patient characteristics are lacking. STUDY DESIGN, SIZE, DURATION: This retrospective cohort study used the Danish National Patient Registry (DNPR) to identify...... a nationwide population-based cohort of patients with MRKH syndrome. Subsequently, patients were linked to the Danish Cytogenetic Central Registry (DCCR) and patient medical records in order to validate the diagnoses. PARTICIPANTS/MATERIALS, SETTING, METHODS: Hospitalizations and outpatient visits from 1994...... MRKH syndrome/Müllerian duct aplasia, Renal aplasia, and Cervicothoracic Somite dysplasia association were present in 56.5% and 43.5% of the patients, respectively. Kidney malformations were the most prevalent extragenital malformations, described in 38 of 111 patients (34.2%). However, in 57 patients...

  5. 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.

  6. 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.

  7. 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.

  8. 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)

  9. 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.

  10. 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...

  11. 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...

  12. 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.

  13. 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...

  14. 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 ...

  15. Anaesthetic Management for Cataract Surgery in VACTERL Syndrome Case Report

    Directory of Open Access Journals (Sweden)

    Sonal S Khatavkar

    2009-01-01

    Full Text Available Eight year old girl, weighing 14 kg with VACTERL syndrome V: Vertebral anomalies, A: Anal malformation, C: Cardiovascular defect, TE: Tracheal and esophageal malformation, R:Renal agenesis, L: Limb anomalies., underwent cataract surgery under general anaesthesia. She had multiple congenital anomalies like esophageal atresia, imperfo-rate anus (corrected, single kidney& radial aplasia. Anticipating problems of gastro-esophageal reflux& chronic renal failure, successful management was done.

  16. 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...

  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. 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...

  19. 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...

  20. 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

  1. 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...

  2. 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.

  3. 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

  4. 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...

  5. 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) ...

  6. 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.).

  7. 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

  8. 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.)

  9. 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...

  10. 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

  11. 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.

  12. 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)

  13. 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)

  14. 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)

  15. 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...

  16. Il dolore

    Directory of Open Access Journals (Sweden)

    Prof. Giorgio Cruccu

    2011-09-01

    Full Text Available Il dolore è l’aspetto negativo di un sistema sensitivo indispensabile alla vita, detto sistema nocicettivo, dal latino noxa e nocēre. I bambini con difetti congeniti della trasmissione o dell’elaborazione percettiva dei segnali dolorifici (analgesia congenita vanno incontro ad una serie di lesioni di cui non si accorgono, sempre più gravi. Crescendo, possono riconoscere il pericolo attraverso l’educazione e l’esperienza, ma, senza l’allarme dato dal dolore, molte malattie possono evolvere senza che siano combattute per tempo, in una spirale che spesso conduce al decesso.

  17. 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

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 艺术奥运,福娃来了!

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    As the 2008 Beijing Olympics approach, people throughout China are operating and/or participating in seemingly countless activities,with full passion,to welcome the grand event.Among them are several people who form a group of folk artists who are combining their great works with the Olympic theme.Fuwa,the Games' lovable mascots,are favorites of those artists. Fuwa are on papercuts,embroideries and paintings.They are even being painted on women's fingernails.The five little cuties seem to be everywhere,w...

  3. Buckling and Delamination of Ti/Cu/Si Thin Film During Annealing

    Science.gov (United States)

    Lin, Qijing; Yang, Shuming; Jing, Weixuan; Li, Changsheng; Wang, Chenying; Jiang, Zhuangde; Jiang, Kely

    2014-09-01

    In this paper, the formation of buckling and delamination of sandwiched stacking of Ti/Cu/Si thin film are investigated. The crystallization structures, the composition of the Cu/Ti thin films, and the surface morphology are measured during annealing. The results show that the solid-phase reaction between Cu and Ti occurs at the interface. Buckling is initiated in the thin film annealed at 600°C. The volume expansion promotes the buckling and further produces microcracks. With increasing volume expansion, there are cavities formed in the middle layer when the annealing temperature is up to 700°C. Finally, thin film is delaminated from the substrate.

  4. 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 ...

  5. A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

    Science.gov (United States)

    Kato, Hideki; Kokunai, Yosuke; Dalle, Carine; Kubota, Tomoya; Madokoro, Yuta; Yuasa, Hiroyuki; Uchida, Yuto; Ikeda, Tomomasa; Mochizuki, Hideki; Nicole, Sophie; Fontaine, Bertrand; Takahashi, Masanori P; Mitake, Shigehisa

    2016-10-15

    Non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (CLCN1) or sodium channel (SCN4A) gene. They exhibit several distinct phenotypes, including myotonia congenita, paramyotonia congenita and sodium channel myotonia, and a genotype-phenotype correlation has been established. However, there are atypical cases that do not fit with the standard classification. We report a case of 27-year-old male who had non-dystrophic myotonia with periodic paralysis and two heterozygous mutations, E950K in CLCN1 and F1290L in SCN4A. His mother, who exhibited myotonia without paralytic attack, only harbored E950K, and no mutations were identified in his asymptomatic father. Therefore, the E950K mutation was presumed to be pathogenic, although it was reported as an extremely rare genetic variant. The proband experienced paralytic attacks that lasted for weeks and were less likely to be caused by CLCN1 mutation alone. Functional analysis of the F1290L mutant channel heterologously expressed in cultured cells revealed enhanced activation inducing membrane hyperexcitability. We therefore propose that the two mutations had additive effects on membrane excitability that resulted in more prominent myotonia in the proband. Our case stresses the value of performing genetic analysis of both CLCN1 and SCN4A genes for myotonic patients with an atypical phenotype.

  6. Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

    Science.gov (United States)

    El-Khairi, Ranna; Martinez-Aguayo, Alejandro; Ferraz-de-Souza, Bruno; Lin, Lin; Achermann, John C

    2011-01-01

    The nuclear receptor transcription factors DAX-1 (NR0B1) and SF-1 (NR5A1) regulate many aspects of adrenal and reproductive development and function. Disruption of the genes encoding these factors can be associated with pediatric adrenal disease. DAX-1 mutations are classically associated with X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism and impaired spermatogenesis. However, other phenotypes are also being reported, such as isolated mineralocorticoid insufficiency, premature sexual development, primary adrenal insufficiency in a 46, XX patient and late-onset X-linked adrenal hypoplasia congenita and/or hypogonadotropic hypogonadism. SF-1 mutations have also been associated with primary adrenal insufficiency, together with 46, XY disorders of sex development. However it is emerging that SF-1 changes are a relatively rare cause of primary adrenal failure in humans, and most individuals with SF-1 mutations have a spectrum of 46, XY disorders of sex development phenotypes. These conditions range from 46, XY females with streak gonads and müllerian structures, through children with ambiguous genitalia and inguinal testes, to severe penoscrotal hypospadias with undescended testes. Therefore, the human gonad appears to be more sensitive than the adrenal gland to loss of SF-1 function. This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations.

  7. [Is attention deficit hyperactivity disorder associated with other prevalent pathologies of early childhood?].

    Science.gov (United States)

    Cardo, Esther; Amengual-Gual, Marta

    2015-02-25

    Objetivo. Revisar si el trastorno por deficit de atencion/hiperactividad (TDAH) se asocia con otras patologias medicas prevalentes de la edad pediatrica. Desarrollo. Se han seleccionado varias patologias pediatricas con el objetivo de revisar su asociacion con TDAH: en neumologia pediatrica, asma y otros procesos alergicos; en neurologia pediatrica, cefalea y convulsion febril; en gastroenterologia pediatrica, diarrea, estreñimiento, dolor abdominal, reflujo gastroesofagico e infeccion por Helicobacter pylori; en nefrologia pediatrica, enuresis; en cardiologia pediatrica, soplos y cardiopatias congenitas; en endocrinologia pediatrica, alteraciones tiroideas y obesidad, y en oftalmologia pediatrica, ametropia y estrabismo. Conclusion. Se han encontrado varios estudios que relacionan el TDAH con procesos alergicos, sobrepeso/obesidad, resistencia periferica a la hormona tiroidea, enuresis, convulsion febril, cefalea, cardiopatias congenitas, alteraciones oftalmologicas y caries, con algunas controversias y detalles por definir. Se puede concluir que son necesarios mas estudios interdisciplinarios para esclarecer las asociaciones y los mecanismos subyacentes implicados, con la finalidad de conocer mejor la compleja entidad TDAH y plantearse intervenciones preventivas, diagnosticas y terapeuticas en cuanto a sus comorbilidades se refiere.

  8. 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.

  9. A clinicopathological study of cutaneous tuberculosis at Dibrugarh district, Assam

    Directory of Open Access Journals (Sweden)

    Binod Kumar Thakur

    2012-01-01

    Full Text Available Background: Cutaneous tuberculosis forms a small subset of extra pulmonary tuberculosis and has a worldwide distribution. Aims: The present study is an attempt to find out the incidence, clinical spectrum, and histopathological features of cutaneous tuberculosis. Materials and Methods: A total of 42 cases of newly diagnosed patients of cutaneous tuberculosis attending dermatology out patient department over a period of 1 year were included in the study. A detailed clinical examination and investigations including histopathological examination were carried out. Results: Scrofuloderma was the most common form seen in 50% cases followed by lupus vulgaris in 42.86%, tuberculosis verrucosa cutis in 4.76%, and lichen scrofulosorum in 2.38% cases. The Mantoux test was positive in 83.33% cases. Characteristic tuberculoid granulomas were seen in 72.22% cases of lupus vulgaris, 42.86% cases of scrofuloderma and all cases of tuberculosis verrucosa cutis and lichen scrofulosorum. Conclusion: Cutaneous tuberculosis is still highly prevalent in upper Assam. Early diagnosis and treatment are essential to prevent its complications.

  10. 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.

  11. 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.

  12. 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.

  13. A clinicoepidemiological study of 50 cases of cutaneous tuberculosis in a tertiary care teaching hospital in Pokhara, Nepal

    Directory of Open Access Journals (Sweden)

    Dwari Binayak

    2010-01-01

    Full Text Available Background: Cutaneous tuberculosis (TB is essentially an invasion of the skin by Mycobacterium tuberculosis, the same bacteria that causes pulmonary tuberculosis. Aim: This study was conducted to study the common types of cutaneous TB and to find the management pattern in a tertiary teaching hospital in Pokhara, Nepal. Materials and Methods: All the cases of cutaneous TB were biopsied and furthermore investigated by performing Mantoux test, sputum examination, fine needle aspiration cytology, chest X-ray and ELISA. Results: In this study, we found that tuberculosis verrucous cutis (48% had a higher incidence than other types of cutaneous TB. More males were affected than were females (1.2:1. Commonly affected sites were the limb and the buttock (48%. The most commonly affected age group was 16-25 years (40%. All cases (except two were more than 15 mm in size in the Mantoux test. The histopathological picture was typical in all except three cases. All patients were treated with antitubercular treatment as per the national guidelines. Conclusion: The most common type of cutaneous TB was tuberculosis verrucous cutis and the most commonly affected sites were the limb and the buttock. As cutaneous TB sometimes reflects the presence of pulmonary tuberculosis, its incidence should not be ignored.

  14. 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

  15. A Japanese patient with a mild Lenz-Majewski syndrome.

    Science.gov (United States)

    Dateki, Sumito; Kondoh, Tatsuro; Nishimura, Gen; Motomura, Katsuaki; Yoshiura, Koh-Ichiro; Kinoshita, Akira; Kuniba, Hideo; Koga, Yoshiyuki; Moriuchi, Hiroyuki

    2007-01-01

    We report on a sclerosing bone dysplasia, associated with cutis laxa, enamel dysplasia, and mental retardation. The patient was a 17-year-old Japanese boy of normal height and muscular build. Cutis laxa with prominent veins in the scalp and abdominal wall and delayed eruption of permanent teeth attracted the attention of clinicians in infancy and adolescence, respectively. The clinical manifestations included a progeroid facial appearance with prognathism, wrinkled skin, and interdigital webbing. The intelligence quotient was estimated at 60. Enamel dysplasia was histologically confirmed. Skeletal changes included calvarial hyperostosis, sclerosis of the skull base, an enlarged, sclerotic mandible, broad clavicles and ribs, and diaphyseal undermodeling of the tubular bones. Metaepiphyseal sclerosis or longitudinal striation was found in the long bones. Metaphyseal equivalents of the axial skeleton showed dense osteosclerosis. These clinical and radiological manifestations overlapped with those of Lenz-Majewski syndrome. Unlike the classical phenotype of the disorder, however, he did not show brachymesophalangy with proximal symphalangism or growth failure. The present case may be considered to fall in the mildest end in the phenotypic continuum of Lenz-Majewski syndrome, suggesting that the clinical spectrum of the disorder may be broader than currently thought.

  16. Local tumor hyperthermia in combination with radiation therapy. I. Malignant cutaneous lesions

    Energy Technology Data Exchange (ETDEWEB)

    Kim, J.H. (Memorial Sloan-Kettering Cancer Center, New York); Hahn, E.W.; Tokita, N.; Nisce, L.Z.

    1977-07-01

    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.

  17. 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.

  18. 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.

  19. Improving hemocompatibility and accelerating endothelialization of vascular stents by a copper-titanium film.

    Science.gov (United States)

    Liu, Hengquan; Pan, Changjiang; Zhou, Shijie; Li, Junfeng; Huang, Nan; Dong, Lihua

    2016-12-01

    Bio-inorganic films and drug-eluting coatings are usually used to improve the hemocompatibility and inhibit restenosis of vascular stent; however, above bio-performances couldn't combine together with single materials. In the present study, we reported a simple approach to fabricate a metal film with the aim of imparting the stent with good blood compatibility and accelerating endothelialization. The films with various ratios of Cu and Ti were prepared through the physical vapor deposition. Phase structure and element composition were investigated by X-ray diffraction (XRD) and X-ray photoelectron spectroscopy (XPS), respectively. The releasing volume of copper ion in Cu/Ti film was determined by immersing test. The hemolysis ratio, platelet adhesion and clotting time were applied to evaluate the hemocompatibility. The proliferative behaviors of endothelial cells and smooth muscle cells under certain copper concentration were investigated in vitro and in vivo. Results indicated that copper-titanium films exhibited good hemocompatibility in vitro; however, the increase of Cu/Ti ratio could lead to increasing hemolysis ratio. Endothelial cells displayed more proliferative than smooth muscle cells when the copper concentration was film with low copper in vivo was observed at the 2nd week, indicating that the copper-titanium film with the lower copper concentration could promote endothelialization. Therefore, the inorganic copper-titanium film could be potential biomaterials to improve blood compatibility and accelerating endothelialization of vascular stents.

  20. 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.

  1. The Effects of Nerve Growth Factor on Skin Healing and Blood Recovery in Irradiated Mice

    Institute of Scientific and Technical Information of China (English)

    史春梦; 程天民; 屈纪富

    2002-01-01

    @@ It is known that radiation could cause bone marrow aplasia and delay wound healing.To promote cellular proliferation and blood recovery are 2 major goals in the treatment of radiation injury.We have observed that the expression of nerve growth factor (NGF) gene decreased greatly in the wound tissue of irradiated animals by immunohistochemistry and in situ hybridization methods.This study was designed to elucidate the effects of NGF on the skin wound healing and blood recovery in mice after total body irradiation.

  2. 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

  3. 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...

  4. 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.

  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. Ectodermal dysplasia - Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Deshpande Sanjeev

    2010-01-01

    Full Text Available Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth. Oral rehabilitation is the major surgical challenge in such patients. It frequently requires alveolar reconstruction followed by dental implants. We report a case of hypohidrotic ectodermal dysplasia, which was managed with reconstruction of both the upper and the lower alveolus using free fibula flaps with dental rehabilitation using osseointegrated implants.

  8. Tratamiento de las hipoplasias severas del pulgar mediante modificaciones a la técnica de Buck-Gramcko

    OpenAIRE

    Peña Marrero, Liván

    2008-01-01

    En este trabajo se evalúa la efectividad de una modificación diseñada por el autor a la técnica de pulgarización del dedo índice descrita por Dieter Buck-Gramcko para el tratamiento de las hipoplasias y aplasias del pulgar. Se realizó un estudio prospectivo longitudinal en 17 pacientes distribuidos en dos grupos. El grupo A estuvo constituido por 9 pacientes (10 manos operadas) a quienes se le aplicó como tratamiento la técnica original de Buck-Gramcko. El grupo B estuvo integrado por 8 pacie...

  9. The athymic nude rat. Immunobiological characteristics with special reference to establishment of non-antigen-specific T-cell reactivity and induction of antigen-specific immunity

    DEFF Research Database (Denmark)

    Hougen, H P

    1991-01-01

    white pulp, and the interfollicular areas of Peyer's patches, are severely cell-depleted in the athymic nude rat. The lower lymphocyte content of these organs is not reflected in the lymphocyte counts of peripheral blood, but the lymphocyte counts of thoracic duct lymph are much lower than those found...... the thymic aplasia. Normal B-lymphocyte function has been found in both in vitro and in vivo tests, whereas the T-cell function is virtually absent both in vitro and in vivo. Non-MHC-restricted cells with killer activity like NK cells are present in the nude rat, and these cells function normally both...

  10. Prolonged gestation in two Holstein cows: transabdominal ultrasonographic findings in late pregnancy and pathologic findings in the fetuses.

    Science.gov (United States)

    Buczinski, S; Bélanger, A-M; Fecteau, G; Roy, J-P

    2007-12-01

    Prolonged pregnancy in cattle is a rare condition that is commonly accompanied with fetal adenohypophyseal hypoplasia. The final diagnosis is often challenging as breeding date error remains possible in virtually all situations. In this report, fetal wellbeing assessment is depicted in two Holstein cows suffered from prolonged pregnancy. Transabdominal ultrasonographic findings were compatible with healthy non-stressed fetuses. The clinical and pathologic findings encountered in both fetuses expelled after corticosteroid induction of parturition consisted of adenohypophyseal aplasia and hydronephrosis. Other nervous system anomalies (hydrocephaly or holocephaly) were observed. Tetralogy of Fallot was also found in one calf.

  11. 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...

  12. 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.

  13. 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.

  14. Developmental defects of the lungs

    Energy Technology Data Exchange (ETDEWEB)

    DaCosta, H.; Pathak, A.; Noronha, O.; Dalal, S.; Shah, K.; Merchant, S.

    1981-06-01

    Poor lung development was first noted on scintigraphy using sup(99m)Tc-phytate in 32 children. They had all been referred for a hepatosplenic scan but the initial circulatory phase of the radiopharmaceutical was also recorded as a routine procedure. In 3 patients it revealed aplasia of an entire lung; bilateral pulmonary hypolplasia was observed in 14 of 16 patients with diaphragmatic herniae. Six patients with congenital heart enlargement showed a poorly developed ipsilateral lung; 5 of 6 patients with dextrocardia without an intracardiac defect had a larger left lung compared with the right lung; both pulmonary beds appeared equal in a patient with mesocardia.

  15. [A new (?) multiple abnormality complex similar to the Poland syndrome].

    Science.gov (United States)

    Gugliantini, P; Saguì, L; Parri, C; Seganti, G; Cavalletti, P

    1984-01-01

    The report describes a case Poland's Syndrome - like in which the hypoplasia of the left major pectoralis muscle was associated with: subtotal aplasia of sternal body, severe hypoplasia of the ipsilateral scapula, humerus and forearm bones, tetradactyly in the ipsilateral hand, partial defect of the diaphragm with thoracic migration of the left hepatic lobe and secondary dextrocardia (false dextrocardia). Syndactyly was absent. The contribution is aimed to join out the radiological characteristics of the syndrome as well as the specific contribution provided in the case by Ultrasounds and aortography. Furthermore, the analysis of the case seems to indicate a strict relationship between the abnormalities of diaphragm, pectoralis muscle and homolateral upper limb.

  16. 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.

  17. 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

  18. 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.

  19. 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

  20. TREATMENT OF 30 CASES OF INFANTILE HIGH FEVER WITH ERJIAN-POINT BLOOD-LETTING METHOD

    Institute of Scientific and Technical Information of China (English)

    李赛玲; 朱军

    2001-01-01

    High fever is referred to that the body temperature exceeds 39℃. Due to aplasia of the cerebral nerve system during infantile stage, continuous high fever may induce temporary functional disturbance of the brain, manifesting as sudden and transient loss of consciousness and local or general muscular spasm that is termed as infantile convulsion. The authors find in clinical practice that sometimes, administration of antipyretics as compound aspirin (APC), compound aminopyrine, etc. has no effect on infantile high fever, if treated with Erjian (MA-H 6) bleeding method, the body temperature may be decreased by 0.5~1.0℃. Here is the report.

  1. 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.)

  2. 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.

  3. 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...

  4. Improving cytopenia with splenic artery embolization in a patient with paroxysmal nocturnal hemoglobinuria on eculizumab.

    Science.gov (United States)

    Krishnan, Suresh K; Hill, Anita; Hillmen, Peter; Arnold, Louise M; Brooksbank, Gemma L; Wood, Alex; Scarsbrook, Andrew; Davies, Mervyn H; Kelly, Richard J

    2013-12-01

    Paroxysmal nocturnal hemoglobinuria is a rare acquired stem cell disorder characterized by intravascular hemolysis, aplasia and an increased risk of thrombosis. We describe a patient under treatment with the anti-complement antibody eculizumab who developed pancytopenia, requiring blood transfusions, due to massive splenomegaly. The patient underwent two separate splenic embolizations, which reduced the size of the spleen and improved his blood count to the point that blood transfusions were no longer necessary. Splenic embolization was chosen over splenectomy due to the potential postoperative complications of splenectomy, especially that of thrombosis.

  5. [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

  6. Bilateral dyb venos trombose og vena cava-aplasi behandlet med lokal trombolyse

    DEFF Research Database (Denmark)

    Pelta, A.M.; Jorgensen, M.; Jensen, L.P.;

    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...

  7. Ehrlichia canis infection in a dog with no history of travel outside the United Kingdom.

    Science.gov (United States)

    Wilson, H E; Mugford, A R; Humm, K R; Kellett-Gregory, L M

    2013-08-01

    A two-year-old female neutered Tibetan terrier was referred following a one-month history of lethargy, inappetence and pancytopenia, which had been poorly responsive to immunosuppressive and fluoroquinolone treatment. The dog was diagnosed with pure red cell aplasia and was found to be positive for Ehrlichia canis by both antibody titre measurement and polymerase chain reaction. The dog lived in London and had not travelled outside the UK. The dog was treated with doxycycline, prednisolone and ciclosporin, but died as a result of gastrointestinal tract haemorrhage. To the authors' knowledge, this represents the first reported case of Ehrlichia canis in a dog in the UK with no previous travel history.

  8. Disease: H00464 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00464 Patella dysplasias, including: Small patella syndrome (SPS); Nail-patella syndrome; Ear-patel...la-short statute syndrome Patella dysplasias are a group of disorders that include aplasia/hypoplasia of patel...lar. Small patella syndrome is a skeletal dysplasia with anomalies of the pelvis. Ossific...ation of the ischia and inferior pubic rami is also disrupted in patients with small patel...la syndrome. Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4

  9. 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.

  10. 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.

  11. 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

  12. CT myelography characteristics of spinal dysraphism in a young mixed breed dog Características de mielografía con TC de una disrafia espinal en un perro mestizo joven

    Directory of Open Access Journals (Sweden)

    M Gómez

    2012-01-01

    Full Text Available Spinal dysraphism is a congenital defect of the vertebral column and spinal cord secondary to imperfect closure of the caudal neuropore of the developing neural tube. This report describes computed tomographic myelography (Myelo-CT characteristics of spina bifida occulta, spinal cord aplasia/hypoplasia and split cord malformation type II (diplomyelia in the caudal lumbar area of a 2 month old mixed breed dog.La disrafia espinal es un defecto congénito de la columna vertebral y la médula espinal secundaria a un cierre imperfecto del neuroporo caudal del tubo neural en desarrollo. Este reporte describe las características observadas en una mielografía por tomografía computarizada (mielo-TC de una espina bífida oculta, aplasia/hipoplasia segmentaria de médula espinal y duplicación de médula espinal tipo II (diplomielia en el segmento lumbar caudal de un perro mestizo de dos meses de edad.

  13. 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.

  14. 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.

  15. Combined use of frontal sinus and nasal septum patterns as an aid in forensics: A digital radiographic study

    Directory of Open Access Journals (Sweden)

    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.

  16. 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

  17. 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.

  18. 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.

  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. 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

  1. A rare genetic disease - spondyloepiphyseal dysplasia

    Institute of Scientific and Technical Information of China (English)

    YANG Bo; LIN Jin; JIN Jin; WENG Xi-sheng; ZHAO Qing; QIU Gui-xing

    2010-01-01

    @@ Spondyloepiphyseal dysplasia (SED) comprises a group of hereditary disorders caused by osteochondrodysplasia of the spine and long tubular bones owing to chromosome abnormalities,1 SED can be divided into two major types, termed SED congenita and SED tarda, according to the time of onset, and both types have some particular characteristics. SED is a rare genetic disorder with an incidence of 1-4 per million population,2 and is prone to be confused with other conditions of short stature. We collected and analyzed the clinical data for 6 patients with SED who were admitted to Peking Union Medical College Hospital for treatment between May 1995 and January 2006 in order to provide a relatively comprehensive recognition of this disease for doctors and to facilitate the definite diagnosis among patients with dwarfism.

  2. 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

  3. GORDON SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Rita

    2015-03-01

    Full Text Available BACKGROUND: Gordon Syndrome is an extremely rare disorder and it is part of a group of genetic disorders known as Arthrogryposis multiplex congenita. There are congenital contractures in at least two or more areas of body. Gordon Syndrome is characterized by congenital Camptodactyly, Clubfoot and Cleft Palate. CASE CHARACTERISTICS: One month female baby presented with congenital distal contra ctures in hands ( C amptodactyly, talipes equinovarus deformity in both lower limbs ( C lub feet, hyperextension of left leg at knee joint, central cleft palate, oral thrush. INTERVENTION: Treatment of oral thrush, feeding advice and physiotherapy. OUTCOME: Relieved of oral thrush, weight gain started and attached to Plastic Surgery, Orthopedic and Physiotherapy Specialties. MESSAGE: Sporadic cases of this rare disorder do occur and not many cases have been reported from India.

  4. 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.

  5. Lethal neonatal short-limbed dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee [Catholic Medical College, Seoul (Korea, Republic of)

    1986-02-15

    We have detailed our experiences on 6 cases of neonatal lethal short-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphyxiating thoracic dysplasia, osteogenesis imperfect a congenita, and hypophosphatasia lethals. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings, even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.

  6. 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.

  7. In vivo evaluation of antimyotonic efficacy of β-adrenergic drugs in a rat model of myotonia.

    Science.gov (United States)

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

    2013-02-01

    The sodium channel blocker mexiletine is considered the first-line drug in myotonic syndromes, a group of muscle disorders characterized by membrane over-excitability. We previously showed that the β-adrenoceptor modulators, clenbuterol and propranolol, block voltage-gated sodium channels in a manner reminiscent to mexiletine, whereas salbutamol and nadolol do not. We now developed a pharmacological rat model of myotonia congenita to perform in vivo preclinical test of antimyotonic drugs. Myotonia was induced by i.p. injection of 30 mg/kg of anthracene-9-carboxylic acid (9-AC), a muscle chloride channel blocker, and evaluated by measuring the time of righting reflex (TRR). The TRR was prolonged from mexiletine twenty minutes after 9-AC injection significantly hampered the TRR prolongation, with an half-maximum efficient dose (ED(50)) of 12 mg/kg. Both propranolol and clenbuterol produced a dose-dependent antimyotonic effect similar to mexiletine, with ED(50) values close to 20 mg/kg. Antimyotonic effects of 40 mg/kg mexiletine and propranolol lasted for 2 h. We also demonstrated, using patch-clamp methods, that both propranolol enantiomers exerted a similar block of skeletal muscle hNav1.4 channels expressed in HEK293 cells. The two enantiomers (15 mg/kg) also showed a similar antimyotonic activity in vivo in the myotonic rat. Among the drugs tested, the R(+)-enantiomer of propranolol may merit further investigation in humans, because it exerts antimyotonic effect in the rat model, while lacking of significant activity on the β-adrenergic pathway. This study provides a new and useful in vivo preclinical model of myotonia congenita in order to individuate the most promising antimyotonic drugs to be tested in humans. PMID:23000075

  8. [Concomitant diseases in primary joint hypermobility syndrome].

    Science.gov (United States)

    Skoumal, Martin; Haberhauer, Günther; Mayr, Hans

    2004-10-15

    The primary joint hypermobility syndrome (pJH) is an overlap disorder of connective-tissue dysplasias, which incorporates features seen in the Marfan syndromes (MFS), Ehlers-Danlos syndromes (EDS), and osteogenesis imperfecta. Patients with pJH usually present arthralgia, back pain, soft-tissue lesions, recurrent joint dislocation, or subluxation. Extraarticular features may include, e. g., striae cutis, keratoconus, easy bruising, mitral valve prolapse, aortic incompetence, aneurysms, pneumothorax, hernia, urinary incontinence, and pelvic floor prolapse. Due to the high frequency of critical dissection and rupture, the early recognition of rare life-threatening complications such as dilatation of the aortic root and aneurysms is important. Therefore, patients (and their family members) with pJH should also be examined for life-threatening features seen in MFS and EDS. PMID:15490074

  9. Toroidal and poloidal momentum transport studies in JET

    DEFF Research Database (Denmark)

    Tala, T.; Andrew, Y.; Crombe, K.;

    2007-01-01

    This paper reports on the recent studies of toroidal and poloidal momentum transport in JET. The ratio of the global energy confinement time to the momentum confinement is found to be close to tau(E)/tau(phi) = 1 except for the low density or low collisionality discharges where the ratio is tau...... of toroidal velocity using the Weiland model and GLF23 also confirm that the ratio chi(phi)/chi(i) approximate to 0.4 reproduces the core toroidal velocity profiles well and similar accuracy with the ion temperature profiles. Concerning poloidal velocities on JET, the experimental measurements show...... is the turbulence driven flow through the Reynolds stress. Both CUTIE and TRB turbulence codes show the existence of an anomalous poloidal velocity, being significantly larger than the neo-classical values. And similarly to experiments, the poloidal velocity profiles peak in the vicinity of the ITB and seem...

  10. Toroidal and poloidal momentum transport studies in tokamaks

    DEFF Research Database (Denmark)

    Tala, T.; Crombé, K.; Vries, P.C. de;

    2007-01-01

    /χi,eff≈ 0.2 on JET while still τE/τφ ≈ 1 holds. Perturbative NBI modulation experiments on JET have shown, however, that a Prandtl number χφ/χi of around 1 is valid if there is an additional, significant inward momentum pinch which is required to explain the amplitude and phase behaviour of the momentum...... to be neo-classical. However, experimental measurements on JET show that the carbon poloidal velocity can be an order of magnitude above the predicted value by the neo-classical theory within the ITB. These large measured poloidal velocities, employed for example in transport simulations, significantly...... affect the calculated radial electric field and therefore the E × B flow shear and hence modify and can significantly improve the simulation predictions. Several fluid turbulence codes have been used to identify the mechanism driving the poloidal velocity to such high values. CUTIE and TRB turbulence...

  11. Acquired disorders of elastic tissue: Part II. decreased elastic tissue.

    Science.gov (United States)

    Lewis, Kevan G; Bercovitch, Lionel; Dill, Sara W; Robinson-Bostom, Leslie

    2004-08-01

    Elastic fibers in the extracellular matrix are integral components of dermal connective tissue. The resilience and elasticity required for normal structure and function of the skin are attributable to the network of elastic tissue. Advances in our understanding of elastic tissue physiology provide a foundation for studying the pathogenesis of elastic tissue disorders. Many acquired disorders are nevertheless poorly understood owing to the paucity of reported cases. Several acquired disorders in which loss of dermal elastic tissue produces prominent clinical and histopathologic features have recently been described, including middermal elastolysis, papular elastorrhexis, and pseudoxanthoma-like papillary dermal elastolysis, which must be differentiated from more well-known disorders such as anetoderma, acquired cutis laxa, and acrokeratoelastoidosis. Learning objective At the conclusion of this learning activity, participants should have an understanding of the similarities and differences between acquired disorders of elastic tissue that are characterized by a loss of elastic tissue.

  12. Lupus vulgaris with squamous cell carcinoma.

    Science.gov (United States)

    Motswaledi, Mojakgomo Hendrick; Doman, Chantal

    2007-12-01

    Tuberculosis is still a significant problem in developing countries. Cutaneous forms of tuberculosis account for approximately 10% of all cases of extrapulmonary tuberculosis. Cutaneous tuberculosis may be because of true infection with Mycobacterium tuberculosis or because of tuberculids. Tuberculids are immunological reactions to haematogenously spread antigenic components of M. tuberculosis. True cutaneous tuberculosis may be because of inoculation or haematogenous spread of M. tuberculosis to the skin. Lupus vulgaris is the commonest form of true cutaneous tuberculosis. Other forms of true cutaneous tuberculosis are tuberculous chancre, tuberculosis verrucosa cutis, scrofuloderma, periorificial tuberculosis and miliary tuberculosis of the skin. Lupus vulgaris is usually chronic and progressive. It occurs in patients with moderate to high immunity against M. tuberculosis as evidenced by strongly positive tuberculin test. Long-standing cases of lupus vulgaris may be complicated by squamous cell carcinoma (SCC). We describe a patient who had undiagnosed lupus vulgaris for 35 years until she developed SCC on the lesion of lupus vulgaris.

  13. 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.

  14. [Incidence of skin manifestations of Lyme disease in Croatia].

    Science.gov (United States)

    Kansky, A; Balić-Winter, A; Bolanca-Bumber, S; Skerlev, M

    1992-01-01

    In the study, the most relevant historical data concerning Lyme-borreliosis are shortly reviewed. The most frequent skin manifestations, i.e. erythema cronicum migrans (ECM), lymphocytoma cutis (LCC) and acrodermatitis chronica atrophicans (ACA) are described. The clinical course of Lyme disease and the chronologic review of the most significant data on the disease are given. The frequency of skin manifestations of Lyme-borreliosis in various areas of Croatia from 1988 to 1989 based on the reports of dermatologists throughout Croatia is presented. According to our results, it can be concluded that skin manifestations of Lyme-borreliosis are much more frequent in the central and western parts of Croatia than elsewhere. The authors hope that the use of a fluorescent method for detecting antibodies to Borrelia burgdorferi since 1989 in the Serologic Laboratory of the Department of Dermatology, Salata, Zagreb will lead to more precise results about this disorder in the future.

  15. Functional specialization in proline biosynthesis of melanoma.

    Directory of Open Access Journals (Sweden)

    Jessica De Ingeniis

    Full Text Available Proline metabolism is linked to hyperprolinemia, schizophrenia, cutis laxa, and cancer. In the latter case, tumor cells tend to rely on proline biosynthesis rather than salvage. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C, and then to proline via pyrroline-5-carboxylate reductases (PYCRs. Here, the role of three isozymic versions of PYCR was addressed in human melanoma cells by tracking the fate of (13C-labeled precursors. Based on these studies we conclude that PYCR1 and PYCR2, which are localized in the mitochondria, are primarily involved in conversion of glutamate to proline. PYCRL, localized in the cytosol, is exclusively linked to the conversion of ornithine to proline. This analysis provides the first clarification of the role of PYCRs to proline biosynthesis.

  16. Functional Specialization in Proline Biosynthesis of Melanoma

    Science.gov (United States)

    Richardson, Adam D.; Scott, David A.; Aza-Blanc, Pedro; De, Surya K.; Kazanov, Marat; Pellecchia, Maurizio; Ronai, Ze'ev; Osterman, Andrei L.; Smith, Jeffrey W.

    2012-01-01

    Proline metabolism is linked to hyperprolinemia, schizophrenia, cutis laxa, and cancer. In the latter case, tumor cells tend to rely on proline biosynthesis rather than salvage. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). Here, the role of three isozymic versions of PYCR was addressed in human melanoma cells by tracking the fate of 13C-labeled precursors. Based on these studies we conclude that PYCR1 and PYCR2, which are localized in the mitochondria, are primarily involved in conversion of glutamate to proline. PYCRL, localized in the cytosol, is exclusively linked to the conversion of ornithine to proline. This analysis provides the first clarification of the role of PYCRs to proline biosynthesis. PMID:23024808

  17. 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.

  18. Terra firma-forme dermatosis

    Directory of Open Access Journals (Sweden)

    Emel Erkek

    2012-01-01

    Full Text Available Terra firma-forme dermatosis is characterized by ′dirty′ brown-grey cutaneous patches and plaques that can simply be eradicated by forceful swabbing with alcohol pads. The pathogenesis has been attributed to abnormal and delayed keratinization. Although affected patients present with typical lesions, the disorder is not well-known by dermatologists. In this report, we describe two patients with terra firma-forme dermatosis in the setting of xerosis cutis and atopic dermatitis. From a clinical point of view, we lay emphasis on its unique expression and diagnosis/treatment. From a histological perspective, we highlight its resemblance to dermatosis neglecta and speculate on the role of ′neglect′ in a patient with seemingly adequate hygiene. The role of urea containing emollients in the development of this disorder remains to be determined.

  19. Vascular architecture of the skin in the postmortem microangiogram. Gefaessarchitektur der Haut im Mikroangiogramm post mortem

    Energy Technology Data Exchange (ETDEWEB)

    Langen, H.J.; Koerber, M. (Technische Hochschule Aachen (Germany, F.R.). Klinik fuer Radiologische Diagnostik); Thron, A. (Technische Hochschule Aachen (Germany, F.R.). Neuroradiologie); Handt, S. (Technische Hochschule Aachen (Germany, F.R.). Abt. Pathologie); Breiden-Langen, C.M. (Technische Hochschule Aachen (Germany, F.R.). Medizinische Klinik 3)

    1991-01-01

    To demonstrate the detailed vascular architecture of the skin, barium sulphate suspension was injected into the arteries of nine amputated lower limbs. Sections of skin from the foot were fixed in formalin and embedded in paraffin and then examined by high resolution radiography. Subsequently histological sections were prepared and correlated with the micro-angiographic appearances. This technique provided demonstration of the detailed vascular structure of the skin with very little super imposition. The capillary loops in the papillae, the sub-papillary plexus, the glandular components (with the capillaries surrounding the sweat glands), the fine arteries and smallest veins in the cutis could be demonstrated over a prolonged course. Microangiographic and histologic sections were carried out in parallel. These eliminated artifacts and clarified the micro-angiographic appearances. The value of microangiography for demonstrating the vascularity of the skin under normal, pathological and experimental conditions is the subject of further studies. (orig.).

  20. 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 ...: This descriptive case series of patients with NSF gives a detailed clinical picture of the skin manifestations late in the disease. It demonstrates that the clinical picture in the late stage has a varied presentation and that NSF has a significant effect on the quality of life.......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...

  1. 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.

  2. Itinerant and localized magnetic moments in ferrimagnetic Mn{sub 2}CoGa thin films identified with x-ray magnetic linear dichroism: experiment and ab initio theory

    Energy Technology Data Exchange (ETDEWEB)

    Meinert, M.; Schmalhorst, J; Klewe, C.; Reiss, G.; Arenholz, E.; Bohnert, T.; Nielsch, K.

    2011-08-08

    Epitaxial thin films of the half-metallic X{sub a}-compound Mn{sub 2}CoGa (Hg{sub 2}CuTi prototype) were prepared by dc magnetron co-sputtering with different heat treatments on MgO (001) substrates. High-quality lms with a bulk magnetization of 1.95(5) {mu}{sub }B per unit cell were obtained. The average Mn magnetic moment and the Co moment are parallel, in agreement with theory. The x-ray magnetic circular dichroism spectra agree with calculations based on density functional theory and reveal the antiparallel alignment of the two inequivalent Mn moments. X-ray magnetic linear dichroism allows to distinguish between itinerant and localized Mn moments. It is shown that one of the two Mn moments has localized character, whereas the other Mn moment and the Co moment are itinerant.

  3. [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

  4. First-principles study on magnetism and half-metallicity in bulk and various (001) surfaces of Heusler alloy Zr2VSn with Hg2CuTi-type structure

    Science.gov (United States)

    Deng, Zun-Yi; Zhang, Jian-Min

    2016-07-01

    Structural, electronic and magnetic properties in the bulk and five different (001) surfaces (ZrV-, ZrSn-, VV-, ZrZr- and SnSn-terminations) of Zr2 VSn Heusler alloy with Hg2 CuTi -type structure are studied by using first-principles calculations based on density-functional theory. The bulk Zr2 VSn Heusler alloy is ferrimagnetic half-metallicity with equilibrium lattice constant 6.815 Å and total magnetic moment -1.000 μB / f.u . , following the Slater-Pauling rule μt =Zt - 18 . The atoms on different surface layers exhibit different displacements, electronic and magnetic properties. All five (001) surfaces lose the half-metallicity and are not usable in spintronics devices.

  5. Phakomatosis pigmentovascularis with lower limb vascular abnormalities in a young Kashmiri male child-Report of a first child from Kashmir Valley (India and review of literature

    Directory of Open Access Journals (Sweden)

    Majid Jehangir

    2016-01-01

    Full Text Available Phakomatosis is a developmental abnormality simultaneously involving eyes, central nervous system, and skin. Phakomatosis pigmentovascularis (PPV is a rare cutaneous disorder which is characterised by a combination of capillary malformations and pigmented anomalies. It arises sporadically. PPV was first described by Ota et al., in 1947. There is no sex predilection, but Japanese have been found to be affected more. There are four main types of PPV. Recently a fifth type with cutis marmorata and aberrant Mongolian blue spot has also been added to the classification. Here we report a case of PPV with Struge – Weber syndrome and Klippel Trenaunay syndrome in a young Kashmiri male child, which has been rarely reported in the literature.

  6. Pituitary-dependent hyperadrenocorticism in a terrier dog:A case report

    Institute of Scientific and Technical Information of China (English)

    Mahdieh Rezaei; Sara Rostami; Mehdi Saberi; Dariush Vosugh

    2016-01-01

    We report a case of pituitary-dependent hyperadrenocorticism in a 10-year-old, female, terrier dog. The animal was admitted due to polyphagia, weight gain, polyuria, polydipsia, hair loss, exercise intolerance and panting at rest. On physical examination, abdominal distention, truncal and bilaterally symmetric alopecia, thin hypotonic skin, comedones, bruising, hyperpigmentation and calcinosis cutis on the dorsal midline were observed. Hematologic investigations showed stress leukogram, high serum alkaline phosphatase activity, mild to moderate alanine aminotransferase activity, hypercholesterolemia, hypertriglyceridemia and hyperglycemia. Mild generalized interstitial lung patterns and hepatomegaly were detected in the radiographs. Bilaterally symmetric normal-sized adrenal glands were also diagnosed in ultrasonography. Diagnosis of pituitary-dependent hyperadrenocorticism was confirmed with low-dose dexamethasone suppression test. The dog was successfully treated with mitotane.

  7. Estados Alterados. Matrimonio y vida maridable en Charcas temprano-colonial

    Directory of Open Access Journals (Sweden)

    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.

  8. « 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...

  9. 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.

  10. 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.

  11. A case of lupus vulgaris with rare localization diagnosed 30 years after onset.

    Science.gov (United States)

    Laudańska, H; Reduta, T; Zalewski, G; Chodynicka, B

    2011-01-01

    Cutaneous tuberculosis (tuberculosis cutis) is one of the extrapulmonary forms of tuberculosis, which may affect the skin only or co-exist with tuberculosis of other organs, particularly the lungs. We describe a case of lupus vulgaris in a 72-year-old male patient with a single lesion localized on his lower extremity, developing for 30 years before correct diagnosis and previously treated with topical steroids. Bacillus infection in other organs was not detected. Diagnosis of tuberculosis was made based on personal history, clinical picture, hypersensitivity to tuberculin, histopathology and polymerase chain reaction. A multidrug therapy with rifampicin, isoniazid and pyrazinamide resulted in regression of the lesion. The common lack of knowledge about the clinical picture of cutaneous tuberculosis causes its late diagnosis and treatment.

  12. Proliferation kinetics of the dermal infiltrate in cutaneous malignant lymphomas

    Energy Technology Data Exchange (ETDEWEB)

    Sterry, W.; Pullmann, H.; Steigleder, G.K.

    1981-01-01

    To obtain information about the role of local proliferation in the pathogenesis of dermal infiltrate in malignant cutaneous lymphomas, we determined the percentage of /sup 3/H-thymidine-labeled infiltrating cells (/sup 3/H-index). A linear correlation was found between proliferative activity and clinical stage in mycosis fungoides, i.e., the /sup 3/H-index is moderately elevated in stage I and high in stage III. The /sup 3/H-index is within normal range in dermal infiltrate of Sezary syndrome, diffuse lymphocytic lymphoma, as well as in lymphocytoma benigna cutis. In parapsoriasis en plaques two groups can be distinguished: in the small plaque variant (chronic superficial dermatitis) the /sup 3/H-index is low, whereas the large-plaque variant (prereticulotic poikiloderma) shows strong proliferative activity. Thus, determination of proliferative activity seems to give new insights into the pathogenesis of dermal infiltrate in cutaneous lymphomas.

  13. Anetoderma arising in Reed syndrome: a case report and review of the literature.

    Science.gov (United States)

    Velez, Moises J; Mesinkovska, Natasha; Bergfeld, Wilma F

    2015-10-01

    Anetoderma is a cutaneous disorder characterized by loss of dermal elastic tissue resulting in papules from herniation of subcutaneous tissue or circumscribed areas of atrophic, wrinkled skin. Familial leiomyomatosis cutis et uteri (Reed syndrome) is an autosomal dominant disorder characterized by cutaneous and uterine leiomyomas. We report a 23-year-old male with Reed syndrome who presented with asymptomatic pearly white, atrophic, flaccid papules on the upper back and shoulder that depressed when palpated. Pathologic examination showed an unremarkable epidermis and central loss of dermal elastin, bordered by clumped elastin, as revealed with an elastin stain. The correlation of clinical and pathologic findings indicated a diagnosis of anetoderma arising in a patient with Reed syndrome. PMID:25950901

  14. Improving hemocompatibility and accelerating endothelialization of vascular stents by a copper-titanium film.

    Science.gov (United States)

    Liu, Hengquan; Pan, Changjiang; Zhou, Shijie; Li, Junfeng; Huang, Nan; Dong, Lihua

    2016-12-01

    Bio-inorganic films and drug-eluting coatings are usually used to improve the hemocompatibility and inhibit restenosis of vascular stent; however, above bio-performances couldn't combine together with single materials. In the present study, we reported a simple approach to fabricate a metal film with the aim of imparting the stent with good blood compatibility and accelerating endothelialization. The films with various ratios of Cu and Ti were prepared through the physical vapor deposition. Phase structure and element composition were investigated by X-ray diffraction (XRD) and X-ray photoelectron spectroscopy (XPS), respectively. The releasing volume of copper ion in Cu/Ti film was determined by immersing test. The hemolysis ratio, platelet adhesion and clotting time were applied to evaluate the hemocompatibility. The proliferative behaviors of endothelial cells and smooth muscle cells under certain copper concentration were investigated in vitro and in vivo. Results indicated that copper-titanium films exhibited good hemocompatibility in vitro; however, the increase of Cu/Ti ratio could lead to increasing hemolysis ratio. Endothelial cells displayed more proliferative than smooth muscle cells when the copper concentration was <7.5μg/ml, however both cells tended to apoptosis to some degree when the copper concentration was increased. The complete endothelialization of the film with low copper in vivo was observed at the 2nd week, indicating that the copper-titanium film with the lower copper concentration could promote endothelialization. Therefore, the inorganic copper-titanium film could be potential biomaterials to improve blood compatibility and accelerating endothelialization of vascular stents. PMID:27612815

  15. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.

    Science.gov (United States)

    Wenger, Tara L; Bhoj, Elizabeth J; Wetmore, Ralph F; Mennuti, Michael T; Bartlett, Scott P; Mollen, Thomas J; McDonald-McGinn, Donna M; Zackai, Elaine H

    2015-04-01

    Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes. BSS presents with craniosynostosis, cutis gyrata, and significant developmental delay in most patients who survive infancy. There have only been 21 reported patients with BSS, which limits prognostication for clinicians and likely does not capture the full extent of the phenotype. Here we report on two additional patients with molecularly confirmed BSS, one each with p.Ser372Tyr and p.Tyr375Cys mutations in FGFR2. Cloverleaf skull was identified prenatally in one patient, with initial concern for Crouzon syndrome. Prenatal 3D ultrasound was performed, but cutis gyrata was only visible on retrospective examination following the clinical diagnosis of BSS after birth. Due to phenotypic overlap with Crouzon syndrome, but worse prognosis, we recommend consideration of prenatal 3D ultrasound and mutation testing for patients with suspected Crouzon to allow for prenatal diagnosis of BSS and to enable appropriate genetic counseling and postnatal care. One of our patients was noted to have a tracheal cartilaginous sleeve, which if present could explain sudden death. Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-related craniosynostosis syndromes, and are associated with 90% risk of death by two years of age without tracheostomy. Tracheal cartilaginous sleeves are often only found incidentally at autopsy as they are difficult to diagnose without direct visualization of the trachea. This association and our experience suggests that BSS patients be evaluated for tracheal cartilaginous sleeve to prevent airway compromise. PMID:25706251

  16. Clinical and anatomical guidelines in pelvic cancer contouring for radiotherapy treatment planning; Definition de regles simples anatomocliniques dans la determination du volume cible des tumeurs pelviennes pour le planning radiotherapeutique

    Energy Technology Data Exchange (ETDEWEB)

    Portaluri, M.; Bambace, S.; Giuliano, G.; Pili, G.; Didonna, V. [General Hospital Di Summa-Perrino, Dept. of Radiation Oncology, Medical Physics, Brindisi (Italy); Perez, C.; Angone, G.; Alloro, E. [General Hospital Di Summa-Perrino, Dept. of Radiology, Medical Physics, Brindisi (Italy); Scialpi, M. [General Hospital SS. Annunziata, Dept. of Radiology, Taranto (Italy)

    2004-08-01

    Background and purpose. Many observations on potential inadequate coverage of tumour volume at risk in advanced cervical cancer (CC) when conventional radiation fields are used, have further substantiated by investigators using MRI, CT or lymph-angiographic imaging. This work tries to obtain three dimensional margins by observing enlarged nodes in CT scans in order to improve pelvic nodal chains clinical target volumes (CTVs) drawing, and by looking for corroborative evidence in the literature for a better delineation of tumour CTV. Method. Eleven consecutive patients (seven males, four females, mean age 62 years, range 43 8) with CT diagnosis of nodal involvement caused by pathologically proved carcinoma of the cervix (n = 2), carcinoma of the rectum (n = 2), carcinoma of the prostate (n = 2), non-Hodgkin lymphoma (n 2), Hodgkin lymphoma (n = 1), carcinoma of the penis (n = 1) and carcinoma of the corpus uteri (n = 1) were retrospectively reviewed. Sixty CT scans with 67 enlarged pelvic nodes were reviewed in order to record the more proximal structures (muscle, bone, vessels, cutis or sub-cutis and other organs) to each enlarged node or group of nodes according to the four surfaces (anterior, lateral, posterior and medial) in a clockwise direction. Results. summary of the observations of each nodal chain and the number of occurrences of every marginal structure on axial CT slices is presented. Finally, simple guidelines are proposed. Conclusions. Tumour CTV should be based on individual tumour anatomy mainly for lateral beams as it results from sagittal T2 weighted MRI images. Boundaries of pelvic nodes CTVs can be derived from observations of enlarged lymph nodes in CT scans. (author)

  17. A technique for pediatric total skin electron irradiation

    International Nuclear Information System (INIS)

    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. Commissioning of pediatric TSEI consisted of absolute calibration, measurement of dosimetric parameters, and subsequent verification in a pediatric patient sized cylindrical phantom using radiographic film and optically stimulated luminance (OSL) dosimeters. The depth of dose penetration under TSEI treatment condition was evaluated using radiographic film sandwiched in the phantom and demonstrated a 2 cm penetration depth with the maximum dose located at the phantom surface. Dosimetry measurements on the cylindrical phantom and in-vivo measurements from the patients suggested that, the factor relating the skin and calibration point doses (i.e., the B-factor) was larger for the pediatric TSEI treatments as compared to adult TSEI treatments. Custom made equipment, including a rotating plate and harness, was fabricated and added to a standard total body irradiation stand and tested to facilitate patient setup under sedated condition. A pediatric TSEI QA program, consisting of daily output, energy, flatness, and symmetry measurements as well as in-vivo dosimetry verification for the first cycle was developed. With a long interval between pediatric TSEI cases, absolute dosimetry was also repeated as part of the QA program. In-vivo dosimetry for the first two infants showed that a dose of ± 10% of the prescription dose can be achieved over the entire patient body. Though pediatric leukemia cutis and the subsequent need for TSEI are rare, the ability to commission the technique on a modified TBI stand

  18. A technique for pediatric total skin electron irradiation

    Directory of Open Access Journals (Sweden)

    Bao Qinan

    2012-03-01

    Full Text Available 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. Methods and Results Commissioning of pediatric TSEI consisted of absolute calibration, measurement of dosimetric parameters, and subsequent verification in a pediatric patient sized cylindrical phantom using radiographic film and optically stimulated luminance (OSL dosimeters. The depth of dose penetration under TSEI treatment condition was evaluated using radiographic film sandwiched in the phantom and demonstrated a 2 cm penetration depth with the maximum dose located at the phantom surface. Dosimetry measurements on the cylindrical phantom and in-vivo measurements from the patients suggested that, the factor relating the skin and calibration point doses (i.e., the B-factor was larger for the pediatric TSEI treatments as compared to adult TSEI treatments. Custom made equipment, including a rotating plate and harness, was fabricated and added to a standard total body irradiation stand and tested to facilitate patient setup under sedated condition. A pediatric TSEI QA program, consisting of daily output, energy, flatness, and symmetry measurements as well as in-vivo dosimetry verification for the first cycle was developed. With a long interval between pediatric TSEI cases, absolute dosimetry was also repeated as part of the QA program. In-vivo dosimetry for the first two infants showed that a dose of ± 10% of the prescription dose can be achieved over the entire patient body. Conclusion Though pediatric leukemia cutis and the subsequent need for TSEI are

  19. Você conhece esta síndrome? Do you know this syndrome?

    Directory of Open Access Journals (Sweden)

    Thais Jerez Jaime

    2011-12-01

    Full Text Available Tumor benigno de tecido muscular, o piloleiomioma tem origem no músculo eretor do pelo, atingindo ambos os sexos geralmente na terceira década de vida. Apresenta-se como nódulo-pápulas assimétricas nas extremidades, de cor eritêmato-acastanhada e de consistência firme. As lesões, quando múltiplas, podem ser sensíveis ou dolorosas. Sua associação com miomas uterinos, denominada de síndrome de Reed ou leiomiomatose cutis et uteri, é apresentação rara, podendo estar associada a carcinoma de células renais. A abordagem é cirúrgica em casos isolados e medicamentosa se houver sintomas. Relatamos um caso de síndrome de Reed em que se optou por acompanhamento pela ausência de sintomatologia.Piloleiomyoma, a benign smooth-muscle tumor arising from the arrectores pilorum muscles of the skin, affects males and females in the third decade of life. It presents as asymmetrical, reddish-brown nodules or papules with a firm consistency, predominantly located on the limbs. When multiple lesions are present, they may be tender or painful. Their association with uterine fibroids, referred to as Reed syndrome or familial leiomyomatosis cutis et uteri, is rare and may be associated with renal cell carcinoma. The approach consists of surgical excision in cases presenting few lesions and pharmacological treatment if symptomatic. The present paper describes a case of Reed syndrome in which a decision was made to monitor the patient in view of the absence of symptoms.

  20. Caracterización microestructural de aleaciones base cobre obtenidas mediante molienda reactiva

    Directory of Open Access Journals (Sweden)

    Palma, R.

    2010-06-01

    Full Text Available The micro and nanostructure 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 microstrain 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 nanometric in all three alloys considered.

    Se analizó la micro y nano estructura de aleaciones Cu-Al, Cu-V y Cu-Ti obtenidas por molienda reactiva, mediante difracción de rayos X (XRD y microscopía electrónica de transmisión (TEM. Se consideraron muestras con distintos tiempos de molienda (t= 0, 10, 20 y 30 h. A partir de los datos XRD, usando los métodos de Williamson- Hall y Klug-Alexander, se evaluaron el tamaño de grano, la densidad de dislocaciones y la microdeformación residual; también se estudió la evolución de la textura de la matriz de cobre en función del tiempo de molienda. En los polvos molidos durante 30 h, de las tres aleaciones consideradas, se encontró, por TEM, que los tamaños de grano y de los dispersoides desarrollados son nanométricos.