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Sample records for aplasia cutis congenita

  1. Aplasia Cutis Congenita Association with Fetus Papyraceus

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    Ahmet Özdemir

    2015-08-01

    Full Text Available Aplasia cutis congenita (ACC is a rare malformation characterized by localized or a wide area absence of tissue. The disease may involve any site of the body, although usually seen on the scalp. Observed one in 10.000 births, it can occur as the ACC as an isolated lesion and may be associated with cleft palate/lip, syndactyly, absence of fingers, eye abnormalities and congenital heart disease. ACC’s a rare form due to intrauterine twin, which is a form of ex. Large lesions that require surgical repair small defects heal spontaneously with re-epithelialization. We present a rare case of newborn male with truncal ACC associated with fetus papyraceus.

  2. Aplasia Cutis Congenita of the Scalp with a Familial Pattern

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    Waleed AlShehri

    2016-01-01

    Full Text Available Aplasia Cutis Congenita (ACC is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16-day-old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient was managed conservatively until the defect has formed scar tissue 6 months later.

  3. Aplasia cutis congenita er en sjælden og mulig overset kongenit anomali

    DEFF Research Database (Denmark)

    E Rogvi, Rasmus; Sommerlund, Mette; Vestergaard, Esben Thyssen

    2014-01-01

    Aplasia cutis congenita (ACC) is a rare congenital defect of the skin. In this study we present the diagnosis and management of the condition. In 1997-2009 a total of 65 ACC cases were registered in the Danish National Patient Registry (1:13.000 births). The mortality among these cases was 1.......6% (one case) though the death was not attributable to ACC, which is far lower than described in international studies....

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

    Science.gov (United States)

    2009-01-01

    Background Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. It is a rare condition with no particular race or sex more at risk. May occur by itself or be associated with other physical syndromes or disorders. A classification system exists for aplasia cutis congenital consisting of 9 groups, based on the number and location of the skin defects and the presence or absence of other malformations. Causes of aplasia congenital could be heredity, teratogenic substances, placental infarcts, intrauterine infections, ectodermal dysplasias etc. Diagnosis is made based on the clinical findings. Prognosis depends of the other organs malfunction level and lesions size. Case report Our case was an 22 months old Albanian girl, who was recommended to dermatology for a consultation by a pediatric surgeon because of the changes she had on her parietal part of the scalp with missing hair areas. The child has stenosis congenita ani and to her was installed stoma. In order to investigate other accompanied anomalies of the disease, there are made specific consults by neurologist, orthopedist, cardiologist, nephrologists and citogenetics. Conclusion It was found out a minor visual discoordination, Sy Floppy, Digiti V superductus pedis bill. Laxitas articularum generalisata. It was a great challenge for us to find out that during the first trimester of the pregnancy (unplanned pregnancy), her mother used Diclofenac. Since there is limited information regarding to teratogenic effects of diclofenac, we considered it interesting to present this case. PMID:19946521

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

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    Leboucq, N; Montoya y Mártínez, P; Montoya-Vigo, F; Catan, P

    1994-08-01

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

  6. 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.

  7. Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions.

    Science.gov (United States)

    Trevisan, Flávia; Cunha, Paulo Rowilson; Pinto, Clóvis Antonio Lopes; Cattete, Fernanda Gomes

    2013-01-01

    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.

  8. Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions*

    Science.gov (United States)

    Trevisan, Flávia; Cunha, Paulo Rowilson; Pinto, Clóvis Antonio Lopes; Cattete, Fernanda Gomes

    2013-01-01

    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. PMID:23793203

  9. Cutis marmorata telangiectatica congenita with skin ulcerations in a new born

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    Chatterjee Rita

    2009-01-01

    Full Text Available Cutis marmorata telangiectatica congenita (CMTC is a rare congenital disorder with persistent cutis marmorata, telengiectasia, and phlebectesia, which may be associated with cutaneaus atrophy and ulceration of the involved skin. We herewith report a full-term newborn female baby with CMTC at birth with ulceration over the extensor aspects of both the knee joints and right elbow joint. CMTC is a benign vascular anomaly representing dilatation of capillaries and veins of dermis and is apparent at birth. The baby had a reticulated bluish purple skin changes all over the body including the face and limb. Although it resembled physiological cutis marmorata, it was strikingly pronounced and definitely was unvarying and permanent. A variety of vascular malformation has been described along with this disorder. Etiology is not very clear and may be multifactorial, teratogens and genes are also been suggested. Prognoses in uncomplicated cases are good.

  10. APLASIA CUTIS CONGÉNITA – UM CASO CLÍNICO

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    Mónica Costeira

    2016-07-01

    Comentários: A aplasia cutis congénita é uma lesão que pode ser causadora de grande ansiedade parental, pelo que é importante ao Pediatra o seu reconhecimento e devido esclarecimento. Apesar de se tratar, na maioria das vezes, de um defeito benigno, é importante o conhecimento da sua relação com outras anomalias e síndromes de forma a otimizar a sua orientação precoce e adequada. Da mesma forma, é importante o aconselhamento genético, nos casos que assim o justifiquem.

  11. 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.

  12. 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*

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    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

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

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    Flávia Trevisan

    2013-06-01

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

  14. Cutis laxa

    NARCIS (Netherlands)

    Mohamed, M.; Voet, M; Gardeitchik, T.; Morava, E.

    2014-01-01

    Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic defects coding for diverse extracellular matrix components. Recently, different inborn errors of

  15. Leukemia cutis

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    Angoori G Rao

    2012-01-01

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

  16. 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.

  17. Leiomyomatosis Cutis

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    Aslı Ürkmez

    2011-12-01

    Full Text Available Leiomyomatosis cutis is a rare disease characterized by oval shaped, red-brown follicular groups of papulonodular lesions especially located on the lower limbs, in which the lesions originate from smooth muscle cells. A fifty-three-year-old female patient was admitted to our clinic with multiple painful nodules on the body. An ischemic stroke, total hysterectomy for leiomyoma, oopherectomy, nephrolitiasis and renal cysts were present in her past medical history. Dermatologic examination revealed multiple, painful, red-brown nodules forming clusters on the left scapular area, bilateral gluteal area and lower limbs. Histopathological examination of the lesional biopsy diagnosed as leiomyoma. Treatment started with gabapentin, paracetamol, tramadol hydrochloride and, amitriptyline, which produced relief of the pain at the end of three weeks. To the best of our knowledge, this is the first case report in our country.

  18. Acquired cutis laxa

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    Musaliar S

    2003-03-01

    Full Text Available A 13-yeat-old male patient born of non consanguineous marriage with history of recurrent urticaria and angioedema for the past 2 years presented with wrinkling and laxity of the skin over the face, axilla and abdomen. Histopathology was consistent with cutis laxa. We are reporting a rare case of acquired cutis laxa due to recurrent urticaria.

  19. Acquired cutis laxa

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    Musaliar S

    2003-01-01

    Full Text Available A 13-yeat-old male patient born of non consanguineous marriage with history of recurrent urticaria and angioedema for the past 2 years presented with wrinkling and laxity of the skin over the face, axilla and abdomen. Histopathology was consistent with cutis laxa. We are reporting a rare case of acquired cutis laxa due to recurrent urticaria.

  20. Metabolic cutis laxa syndromes

    NARCIS (Netherlands)

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

    2011-01-01

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

  1. Congenital cutis laxa

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    Pavithran K

    1992-01-01

    Full Text Available A case of congenital cutis laxa is reported in a male infant. Heavy wrinkles on the forehead, ectropion of the lower eyelids and sagging of the skin of the cheeks and chin gave the appearance of ar, old man. In spite of extensive skin involvement, the general health of the child remained unaffected.

  2. Pachyonychia congenita with unusual features.

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    Balasubramanian, S; Kaarthigeyan, K; Ramnath, B

    2009-10-01

    Pachyonychia congenita is a rare hereditary disorder characterized by gross thickening of all finger and toenails. We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of microcephaly, seizures, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.

  3. Arthrogryposis multiplex congenita

    DEFF Research Database (Denmark)

    Linnet, Karen Markussen; Balslev, Thomas; Møller-Madsen, Bjarne

    2015-01-01

    Arthrogryposis multiplex congenita (AMC) is a sign rather than a diagnosis. It implies contractures in multiple body areas and occurs in 1:3,000-5,000 live births. Primary aetiologies include neuropathic, myopathic, metabolic, end plate and vascular disorder affecting the developing foetus......, including limitation of foetal space. Amyoplasia is the most common type of AMC after central nervous system disorders. Knowledge about the classification of AMC is essential to make a correct diagnosis and treatment plans. We recommend follow-up by experienced paediatric orthopaedic surgeons...

  4. 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.

  5. Hyalinosis cutis et mucosae.

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    Vago, Bernadette; Hausser, Ingrid; Hennies, Hans Christian; Enk, Alexander; Jappe, Uta

    2007-05-01

    Hyalinosis cutis et mucosae is a rare autosomal recessive disorder which is characterized by deposition of hyaline material around the basement membrane of the skin and mucous membranes. Typical clinical symptoms are hoarseness, infiltration of the mucous membranes and papular verrucous skin changes. Mutations within the extracellular matrix protein gene (ECM-1) are the underlying defect. We report on a 24-year-old man, who had first been seen in our department at the age of seven and had undergone the necessary diagnostic procedures and who revisited 17 years later with hoarseness and extensive verrucous skin changes at elbows and knees which were removed by excision. A new mutation of the ECM1 gene was identified.

  6. Genetics Home Reference: X-linked adrenal hypoplasia congenita

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    ... X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Enable Javascript to view the expand/collapse ... Open All Close All Description X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. ...

  7. 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

  8. Genetics Home Reference: Beare-Stevenson cutis gyrata syndrome

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    ... Health Conditions Beare-Stevenson cutis gyrata syndrome Beare-Stevenson cutis gyrata syndrome Enable Javascript to view the ... Download PDF Open All Close All Description Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized ...

  9. Unilateral Idiopathic Calcinosis Cutis: A Case Report

    Science.gov (United States)

    Alsaif, Fahad; Abduljabbar, Amr M.

    2017-01-01

    Calcinosis cutis is a rare disorder characterized by the deposition of calcium in the skin and subcutaneous tissue. Unilateral idiopathic calcinosis cutis has only rarely been reported in the literature. Here, we report the case of a 7-year-old healthy girl who presented with multiple asymptomatic hard nodules on the right side of her body. Histopathological, radiological, and extensive blood investigations confirmed the diagnosis of unilateral idiopathic calcinosis cutis. PMID:28203159

  10. 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.

  11. ACQUIRED CUTIS LAXA WITH RECURRENT URTICARIA

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    Ganaparthi

    2015-05-01

    Full Text Available A 30 year old male patient presented with progressive laxity and wrinkling of skin over the face for past 10 years, patient also gives history of recurrent urticaria since 12 years. Skin biopsy using Verhoff Van Gieson stain suggestive of cutis laxa. We are reporting a rare case of acquired cutis laxa with recurrent urticaria

  12. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

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    Ariana Kariminejad

    2017-03-01

    Full Text Available Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A, cutis laxa IIB (ARCL2B, and geroderma osteodysplastica (GO, have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. Rather, the clinical phenotype of ARCL2B includes severe wrinkling of the dorsum of the hands and feet, wormian bones, athetoid movements, lipodystrophy, cataract and corneal clouding, a thin triangular face, and a pinched nose. Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. Here we present 10 Iranian patients who were initially diagnosed clinically using the respective features of each cutis laxa syndrome. Each patient’s clinical diagnosis was then confirmed with molecular investigation of the responsible gene. Review of the clinical features from the cases reported from the literature also supports our conclusions.

  13. 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

  14. Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia.

    Science.gov (United States)

    Meena, K R; Bisht, Supriya; Tamaria, K C

    2015-12-01

    Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of abnormal lymphocyte apoptosis, leading to chronic lymphoproliferation. It presents as lymphadenopathy, hepatosplenomegaly and autoimmune phenomena. Pure red cell aplasia is characterized by normochromic normocytic anemia, reticulocytopenia, and absence of erythroblasts from a normal bone marrow. Only few lymphoproliferative disorders have been associated with erythroid aplasia. The authors are reporting a case of ALPS associated with red cell aplasia in a 7-y-old girl.

  15. Idiopathic Circumscripta Calcinosis Cutis of the Fingers

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    Ömer Çalka

    2013-05-01

    Full Text Available Calcinosis cutis is an uncommon disorder characterized by deposition of insoluble calcium salts in the skin. Based on the etiology of the deposition calcinosis cutis may be devided into four major groups namely metastatic, dystrophic, idiopathic, and iatrogenic. The pathophysiology of calcinosis cutis remains unclear. The dystrophic form is the most common whereas the idiopathic one is the rarest. Idiopathic calcinosis cutis occurs in the absence of any identifiable causes and is not associated with drug use. Idiopathic calcinosis cutis has two major types called localized (circumscript and generalized (universalis. Localized type generally involves the vulva, scrotum, penis and breast. A definitive diagnosis requires the histologic demonstration of the accumulation of calcium in the skin and exclusion of other clinic types.There is not an effective treatment for the disease. A 47-year-old woman referred to our outpatient clinic for painless, yellowish-white nodules on her hand enduring for 30 years. A diagnosis of idiopathic calcinosis cutis was made by clinical and histological findings. We present this case because localization of lesions in our case was previously unreported in the literature to our knowledge.

  16. 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.

  17. 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.

  18. 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.

  19. CUTIE: Cubesat Ultraviolet Transient Imaging Experiment

    Science.gov (United States)

    Cenko, Stephen B.; Bellm, Eric Christopher; Gal-Yam, Avishay; Gezari, Suvi; Gorjian, Varoujan; Jewell, April; Kruk, Jeffrey W.; Kulkarni, Shrinivas R.; Mushotzky, Richard; Nikzad, Shouleh; Piro, Anthony; Waxman, Eli; Ofek, Eran Oded

    2017-01-01

    We describe a mission concept for the Cubesat Ultraviolet Transient Imaging Experiment (CUTIE). CUTIE will image an area on the sky of ~ 1700 square degrees every ~ 95 min at near-UV wavelengths (260-320 nm) to a depth of 19.0 mag (AB). These capabilities represent orders of magnitude improvement over past UV imagers, allowing CUTIE to conduct the first true synoptic survey of the transient and variable sky in the UV bandpass. CUTIE will uniquely address key Decadal Survey science questions such as how massive stars end their lives, how super-massive black holes accrete material and influence their surroundings, and how suitable habitable-zone planets around low-mass stars are for hosting life. By partnering with upcoming ground-based time-domain surveys, CUTIE will further leverage its low-Earth orbit to provide a multi-wavelength view of the dynamic universe that can only be achieved from space. The remarkable sensitivity for such a small payload is achieved via the use of large format delta-doped CCDs; space qualifying this technology will serve as a key milestone towards the development of future large missions (Explorers and Surveyors). Finally, our innovative design in a 6U cubesat form factor will enable significant cost savings, accelerating the timeline from conception to on-sky operation (5 years; well matched for graduate student participation).

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

    Directory of Open Access Journals (Sweden)

    Arif Setiyanto

    2013-09-01

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

  1. Idiopathic calcinosis cutis of nasal dorsum

    Directory of Open Access Journals (Sweden)

    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.

  2. 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.

  3. Condylar Aplasia and Hypoplasia: A Rare Case

    Directory of Open Access Journals (Sweden)

    Peeyush Shivhare

    2013-01-01

    Full Text Available Aplasia of condyle is very rare, when this condition not seen as a part of a syndrome. We report a case of condylar aplasia on the right side and hypoplasia on the left side in a 21-year-old female. The patient reported to the department with a chief complaint of underdeveloped lower jaw. Clinical examination, conventional radiographs, and 3D CBCT images revealed complete absence of condyle on the right side and hypoplasia on the left side.

  4. Diphenylhydantoin-induced pure red cell aplasia.

    Science.gov (United States)

    Rusia, Usha; Malhotra, Purnima; Joshi, Panul

    2006-01-01

    Pure red cell aplasia is an uncommon complication of diphenylhydantoin therapy. It has not been reported in Indian literature. Awareness of the entity helps in establishing the cause of anaemia in these patients and alerts the physicians to the need of comprehensive haematological monitoring in these patients. A case of 58-year-old male who developed pure red cell aplasia following three months of diphenylhydantoin therapy is reported here.

  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. 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.

  7. Total joint replacement in multiplex congenita contractures: a case report

    OpenAIRE

    Cameron, Hugh U.

    1998-01-01

    A 34-year-old man with multiplex congenita contractures underwent replacement of 2 hips and 1 knee. Even though a good range of movement was achieved at surgery and intensive physiotherapy, his joints returned to their preoperative status within 2 years. This outcome suggests that total joint replacement has little to offer the patient with multiplex congenita contractures who has immobile joints.

  8. Cutis Laxa syndrome: a case report

    Science.gov (United States)

    Hbibi, Mohamed; Abourazzak, Sana; Idrissi, Mounia; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

    2015-01-01

    Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive patterns have been described in the inherited forms. Acquired forms of this disease have been associated with a previous inflammatory skin disorder (urticaria…). The characteristic symptomatological pattern is resulting from paucity of elastic fibers. We report an 18 months old baby boy with a congenital cutis laxa. He was admitted in pediatric unit for respiratory disorders. The diagnosis of CL syndrome is based on clinical assessment of typical skin features and the associated extracutaneous finding. PMID:25995800

  9. 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.

  10. Nonsyndromic Facial Asymmetry with Unilateral Condylar Aplasia

    Directory of Open Access Journals (Sweden)

    Ranganadh Nallamothu

    2013-01-01

    Full Text Available Introduction. The temporomandibular joint (TMJ is the most complex elegantly designed joint in the human body. Abnormal development and growth of TMJ may lead to condyle aplasia present in several syndromes expressions, but it is extremely rare when not connected to any underlying pathological disorder or in conjunction with any syndrome. Objective. A rare case of aplasia of the mandibular condyle is presented, along with 3D computed tomography (3D CT findings. Conclusion. Based on clinical and radiological findings we suggest the abnormal development of the TMJ as the origin. The 3D CT has provided high-quality images, which made diagnosis and a prompt treatment plan possible.

  11. Aplasias Medulares Congénitas

    OpenAIRE

    A. Esteves; O. FREITAS; Almeida, T.; Rosado, L

    2010-01-01

    Las aplasias medulares congénitas constituyen un grupo heterogéneo de enfermedades que se caracterizan por insuficiencia medular, asociadas frecuentemente a una o más anomalías somáticas y con riesgo elevado de neoplasias.Son enfermedades raras, generalmente diagnosticadas en la edad pediátrica, y con una mortalidad prematura importante. Los autores presentan 11 casos de aplasia medular congénita,8 deanemia de Fanconiy 3 de disqueratosis congénita. Estos casos fueron diagnostic...

  12. Acquired Localized Cutis Laxa due to Increased Elastin Turnover

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  13. Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures

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    Hamza Sucuoglu

    2015-01-01

    Full Text Available Arthrogryposis multiplex congenita (AMC is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is multifactorial; it is most commonly suspected from absent fetal movements and genetic defects. AMC affects mainly limbs; also it might present with other organs involvement. It is crucial that the diagnosis of AMC should be kept in mind by musculoskeletal physicians in newborns with multiple joint contractures and patients must begin rehabilitation in early stage after accurate diagnosis in terms of functional independence. We present the diagnosis, types, clinical features, and treatment approaches of this disease in our case with literature reviews.

  14. Jadassohn Lewandowsky syndrome: Type 1 pachyonychia congenita

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    Anup Kumar Tiwary

    2017-01-01

    Full Text Available Pachyonychia congenita (PC is a rare, usually autosomal dominant, genodermatosis characterized by tetrad of wedge shaped nail hypertrophy, focal palmoplantar keratoderma, oral leucokeratosis and follicular hyperkeratosis due to mutation in either of the three keratin genes, KRT6, KRT16 and KRT17. Classically, it has been subdivided into 2 major types: PC-1 (Jadassohn Lewandowsky syndrome and PC-2 (Jackson-Lawler syndrome but, genotypically, now PC has been classified into 5 types depending upon the underlying keratin gene mutations: PC-K6a, PC-K6b, PC-K6c, PC-K16 and PC-K17. Since 1904 when Muller documented the first case of PC, around 700 cases have been reported till now. Hence, in the view of rarity of such crippling and debilitating dermatosis of congenital or early life onset, we herein report a clinically diagnosed case of Pachyonychia congenita- type 1(Jadassohn Lewandowsky syndrome in a 16 years old girl with affection of 2 other members of her family with the same disorder.

  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. Unusual Idiopathic Calcinosis Cutis Universalis in a Child

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    Derya Alabaz

    2009-08-01

    Full Text Available Calcinosis cutis is an uncommon disorder characterized by the progressive deposition of crystals of calcium phosphate (hydroxyapatite in the skin in various areas of the body. It is classified into four types according to etiology, namely as dystrophic if calcium and phosphorus levels are normal and tissue damage is present, as idiopathic if calcium and phosphorus levels are normal and no tissue damage is present, or as metastatic if there is hypercalcemia or hyperphosphatemia. Medical and surgical treatments are options to cure calcinosis cutis. Medical therapy is not very effective. Surgical excision has shown to be beneficial, as it can provide a symptomatic relief. However, since calcinosis cutis limits are not always well defined, a recurrence of the lesions may occur. We dealt with a very rare form of calcinosis cutis in a healthy 6-year-old girl. There was no evidence of connective tissue disorder or abnormal mineral metabolism. Hence, she was diagnosed as idiopathic calcinosis cutis and, although calcifications in idiopathic cutis are most commonly localized to one area, our patient unusually exhibited widespread calcific deposits. Although the existing lesions showed slow improvement, systemic pamidronate therapy was effective in preventing the occurrence of new lesions. Surgical excision proved to be an effective and successful treatment. This report aims to raise doctors’ awareness on the presentation, etiopathogenesis, and course of the relatively rare idiopathic calcinosis cutis.

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

    OpenAIRE

    Velisavljev-Filipović Gordana

    2006-01-01

    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...

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

    Directory of Open Access Journals (Sweden)

    Srimanta Kumar Sahu

    2015-01-01

    Full Text Available 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.

  19. 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.

  20. 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.

  1. Dyskeratosis congenita: report of a case.

    Science.gov (United States)

    Brown, C J

    2000-12-01

    Dyskeratosis congenita is a rare multisystem condition involving mainly the ectoderm. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. The case of a 14-year-old girl is described who presented with several of the characteristic systemic features of this condition, together with the following oral features: hypodontia, diminutive maxillary lateral incisors, delayed dental eruption, crowding in the maxillary premolar region, short roots, poor oral hygiene, gingival inflammation and bleeding, alveolar bone loss, caries and a smooth atrophic tongue with leukoplakia. Although this condition is rare, dental surgeons should be aware of the dental abnormalities that exist and the risk of malignant transformation within the areas of leukoplakia.

  2. Acquired pure red cell aplasia in children

    Directory of Open Access Journals (Sweden)

    Sujata R Dafale

    2012-01-01

    Full Text Available Acquired Pure Red Cell Aplasia (PRCA is a rare occurrence in children.This is a case of an eight year old girl child who developed acquired PRCA secondary to long term intake of sodium Valproate. This case is reported to review the causes of PRCA in children and to reconsider the use of drugs of longer duration in children and adults.

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

    Science.gov (United States)

    ... IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Enable Javascript to view ... combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by ...

  4. 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.)

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

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    Margarita Valdés-Flores

    2016-02-01

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

  6. 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.

  7. Unilateral optic nerve aplasia associated with microphthalmos

    Directory of Open Access Journals (Sweden)

    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.

  8. 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.

  9. Pulmonary Aplasia in an Adult : A Case Report

    Directory of Open Access Journals (Sweden)

    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.

  10. Oral complications associated with idiopathic medullary aplasia: case report.

    Science.gov (United States)

    Clercq, Marcel; Gagné-Tremblay, Mélanie

    2008-05-01

    This article describes a patient who experienced serious oral sequelae after severe oral hemorrhage associated with medullary aplasia. These complications required medical, surgical and prosthetic treatments necessitating dental expertise in the hospital setting.

  11. Pure White Cell Aplasia and Necrotizing Myositis

    Directory of Open Access Journals (Sweden)

    Peter Geon Kim

    2016-01-01

    Full Text Available Pure white cell aplasia (PWCA is a rare hematologic disorder characterized by the absence of neutrophil lineages in the bone marrow with intact megakaryopoiesis and erythropoiesis. PWCA has been associated with autoimmune, drug-induced, and viral exposures. Here, we report a case of a 74-year-old female who presented with severe proximal weakness without pain and was found to have PWCA with nonspecific inflammatory necrotizing myositis and acute liver injury on biopsies. These findings were associated with a recent course of azithromycin and her daily use of a statin. Myositis improved on prednisone but PWCA persisted. With intravenous immunoglobulin and granulocyte-colony stimulating factor therapies, her symptoms and neutrophil counts improved and were sustained for months.

  12. Acquired pure megakaryocytic aplasia successfully treated with cyclosporine

    Directory of Open Access Journals (Sweden)

    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.

  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. Calcinosis cutis behandlet med ekstrakorporal shockbølgeterapi

    DEFF Research Database (Denmark)

    Jeppesen, Sune Møller; Yderstræde, Knud Bonnet; Lund, Lars

    2015-01-01

    Calcinosis cutis is a rare disease entity characterized by deposits of calcium in the skin and subcutaneous tissue causing hard-to-heal ulcers. This is a case report on a patient with femoral ulcers in connection with densely mineralized skin caused by ketobemidon injections. Next to surgical...

  15. Oculoectodermal syndrome: twentieth described case with new manifestations*

    Science.gov (United States)

    Figueiras, Daniela de Almeida; Leal, Deborah Maria de Castro Barbosa; Kozmhinsky, Valter; Querino, Marina Coutinho Domingues; Regueira, Marina Genesia da Silva; Studart, Maria Gabriela de Morais

    2016-01-01

    Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum of the disease to include: diffuse hyperpigmentation (some following the Blaschko´s lines); hypopigmented skin areas on the trunk; arachnoid cyst on the right fronto-parietal border; rounded left side of the hippocampus; and dermoid cyst underlying the bulb-medullary transition. Our patient also reported infantile hemangioma on the right wrist and verrucous hemangioma on the left leg, the latter not previously described in the literature.

  16. In vitro sulfate turnover in osteogenesis imperfacta congenita and tarda

    Energy Technology Data Exchange (ETDEWEB)

    Delvin, E.E.; Glorieux, F.H.; Lopez, E.

    1979-01-01

    Sulfate (/sup 35/SO/sub 4//sup -2/) uptake was studied in confluent skin fibroblasts from three patients with osteogenesis imperfecta congenita, six patients with osteogenesis imperfecta tarda, three clinically unaffected relatives of an osteogenesis imperfecta tarda patient, and four controls. Only two of the osteogenesis imperfecta congenita cell strains showed an increased uptake of sulfate, all other cell strains being comparable to the control group. The degradation rate of glycosaminolgycans in mutants as seen by the chase experiments was comparable to that found in the normal control cell strains. Glucose oxidation was normal in the osteogenesis imperfecta cell strains having an abnormal sulfate uptake. This rules out the possibility of an hypermetabolic state of these cells. These findings do not warrant the use of /sup 35/SO/sub 4//sup -2/ incorporation in cultured cells as a tool for prenatal diagnosis of osteogenesis imperfecta.

  17. The Association of Myotonia Congenita and Ankylosing Spondylitis: Case Report

    OpenAIRE

    Bağçacı, Sinan; Albayrak, Ilknur; Karakaşlı, Sema; Küçükşen, Sami; Sallı, Ali

    2015-01-01

    This is the first report about the association of ankylosing spondylitis and myotonia congenita. Ankylosing spondylitis is a systemic rheumatologic disease that is characterized by axial skeletal inflammation and accompanied by systemic involvement. The most significant findings of myotonia are the stiffness and the delayed relaxation following the muscle contraction. Both of these pathologies can cause stiffness and also delaying of diagnosis of each other. Key words: Ankylosing spondyliti...

  18. 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.)

  19. 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.

  20. Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.

    Science.gov (United States)

    Rittié, L; Kaspar, R L; Sprecher, E; Smith, F J D

    2017-03-27

    The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S.A., is reported here.

  1. Pulmonary Aplasia with Unusual Associations in a Woman

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    Arshad Altaf Bachh

    2014-03-01

    Full Text Available Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH syndrome is defined as the congenital aplasia of the uterus and the upper two thirds of the vagina with normal secondary sexual characteristics, ovaries, and a normal karyotype (46, XX. We report an extremely rare association of right lung aplasia, MRKH syndrome, and right renal agenesis with left pelvic kidney, which to the best of our knowledge is the first such association reported.

  2. Amyloidosis cutis dyschromica: A rare reticulate pigmentary dermatosis

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    Shyam Verma

    2015-01-01

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

  3. 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.

  4. Miliary Osteoma Cutis of the Face: A Case

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    Selma Emre

    2014-03-01

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

  5. Generalized calcinosis cutis associated with disseminated paecilomycosis in a dog.

    Science.gov (United States)

    Holahan, Melissa L; Loft, K Earl; Swenson, Cheryl L; Martinez-Ruzafa, Ivan

    2008-12-01

    A 4-year-old spayed female mixed breed dog was referred to the Michigan State University, Veterinary Teaching Hospital (MSU-VTH) with vomiting, lethargy and anorexia of 2 weeks duration. Abdominal radiographs and ultrasonography showed hepatosplenomegaly. Cytological evaluation of ultrasound-guided fine needle aspirates of the liver and spleen revealed fungal organisms and pyogranulomatous inflammation; fungal culture documented Paecilomyces variotii infection. The dog received antifungal therapy and supportive care. Multiple firm plaque-like skin lesions, predominantly involving the inguinal region, developed 18 days after initial presentation and were diagnosed histopathologically as calcinosis cutis. While generalized calcinosis cutis has been reported in three dogs with blastomycosis and one dog with leptospirosis, the association with disseminated Paecilomyces spp. infection is novel.

  6. Embolis cutis medicamentosa, a rare preventable iatrogenic complication

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    Manjunath Kavya,

    2015-07-01

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

  7. Aplasia of the parotid glands with accessory parotid tissue

    Energy Technology Data Exchange (ETDEWEB)

    Higley, Meghan J.; Walkiewicz, Thomas W.; Miller, Jeffrey H.; Curran, John G.; Towbin, Richard B. [Phoenix Children' s Hospital, Department of Radiology, Phoenix, AZ (United States)

    2010-03-15

    Congenital absence of the parotid gland is a rare entity. Absence is most commonly unilateral, and is not associated with accessory glandular tissue. In the majority of reported cases, parotid gland aplasia is seen with craniofacial abnormalities or hypoplasia of other ectodermal structures, particularly the lacrimal glands. We present a 14-year-old male with bilateral parotid gland aplasia detected incidentally on MRI of the brain and then confirmed on neck CT. The studies also revealed accessory parotid tissue superficial to the left masseter muscle. There were no associated craniofacial abnormalities. The lacrimal glands and submandibular glands were normal. (orig.)

  8. Non-syndromic bilateral condylar aplasia: A rare case

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    Peeyush Shivhare

    2015-01-01

    Full Text Available The temporomandibular joint is one of the most complex joints of the human body. It consists of the mandibular condyle, glenoid fossa and the articular eminence of the temporal bone. Aplasia of the condyle is usually seen as part of a syndrome otherwise it is rare. We report a case of bilateral condylar aplasia in a 20-year-old male not associated with any syndrome. The patient reported to the department with a chief complaint of the underdeveloped lower jaw. Clinical examination, conventional radiographs, and 3D computer tomography images revealed a complete absence of condyle on the right and left sides.

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

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    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.

  10. [Unilateral pulmonary agenesis, aplasia and dysplasia].

    Science.gov (United States)

    Dembinski, J; Kroll, M; Lewin, M; Winkler, P

    2009-04-01

    Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.

  11. Cutis verticis gyrata primária essencial

    Directory of Open Access Journals (Sweden)

    Schenato Letícia K.

    2002-01-01

    Full Text Available Objetivo: relatar um caso raro de uma criança portadora da forma primária essencial de Cutis verticis gyrata.Descrição: menino de 9 anos, apresenta importante hipertrofia da pele do couro cabeludo, com dobras que se assemelham aos giros cerebrais. Não apresenta retardo mental, nem alterações oftalmológicas e não há relatos semelhantes na família.Comentários: o diagnóstico de Cutis verticis gyrata primária essencial foi estabelecido pela presença de redundância da pele do couro cabeludo e ausência de alterações neurológicas e oftalmológicas, tendo-se feito o diagnóstico diferencial com as formas secundárias que incluem: nevo intradérmico cerebriforme, paquidermoperiostose, acromegalia e doenças inflamatórias do couro cabeludo. Trata-se do único relato na literatura de uma criança com esta forma de Cutis verticis gyrata.

  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. 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.

  14. Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia

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    Unnati D. Desai

    2017-01-01

    Full Text Available Dyskeratosis Congenita (DC is a rare inherited disorder of ectodermal dysplasia. It consists of a classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leukoplakia. Pulmonary disease is seen in 10-15%. It is characterized by Idiopathic Pulmonary Fibrosis (IPF, or Idiopathic Familial Pulmonary Fibrosis (IFPF. Non-specific Interstitial Pneumonia (NSIP has been reported rarely in children with DC and in an isolated adult patient. Our patient had classical clinical presentation of DC with pancytopenia and portal hypertension and clinic-radiological features of NSIP which is a rare association.

  15. 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.

  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. The diagnosis and treatment of dyskeratosis congenita: a review

    Directory of Open Access Journals (Sweden)

    Fernández García MS

    2014-08-01

    Full Text Available M Soledad Fernández García,1,2 Julie Teruya-Feldstein1 1Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA; 2Department of Pathology, Hospital Universitario Central de Asturias, Oviedo, Spain Abstract: Dyskeratosis congenita (DC is an inherited bone marrow failure (BMF syndrome characterized by the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. However, patients usually develop BMF and are predisposed to cancer, with increased risk for squamous cell carcinoma and hematolymphoid neoplasms. DC is a disease of defective telomere maintenance and is heterogeneous at the genetic level. It can be inherited in X-linked, autosomal dominant, or autosomal recessive patterns. Mutations in at least ten telomere- and telomerase-associated genes have been described in DC. There are no targeted therapies for DC and patients usually die of BMF due to a deficient renewing capability of hematopoietic stem cells. Allogeneic hematopoietic stem cell transplantation is the only curative treatment for BMF. Keywords: dyskeratosis congenita, diagnosis, genetics, clinical, treatment

  18. Congenital cerebriform melanocytic naevus with cutis verticis gyrata

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    Pai Vishaka

    2002-11-01

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

  19. Familial myomatosis cutis et uteri, segmental type 2

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    Palak Deshmukh

    2013-01-01

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

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

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    Gisele Moro do Nascimento

    2010-10-01

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

  1. Pure Red Cell Aplasia Following Interleukin-2 Therapy

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    Janice P. Dutcher MD

    2016-04-01

    Full Text Available A 61-year-old woman with metastatic renal cell carcinoma underwent systemic treatment with high-dose interleukin-2 (IL-2. Anemia requiring transfusion of 1 unit of packed red blood cells (PRBCs was required during the second week of IL-2 therapy. One month following completion of high-dose IL-2 treatment, she was hospitalized for severe, symptomatic anemia and received 5 units of PRBCs. She was referred back for evaluation. A complete hematologic evaluation was performed including antiviral serology, evaluation for hemolysis, complete iron studies, and finally bone marrow aspiration and biopsy. The diagnosis was pure red cell aplasia, and no inciting viral cause could be ascertained. She required PRBCs for 5 months following IL-2 therapy. It was concluded that IL-2 was the cause of her red cell aplasia. This subsequently resolved spontaneously, and she had normal hemoglobin and hematocrit, respectively, 1 and 2 years after treatment.

  2. 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.

  3. 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

  4. 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

  5. Pure Red Cell Aplasia with Adult Onset Still's Disease

    OpenAIRE

    Nicholas Robillard; Paul Nguyen; Robert Wistaff; Mikhael Laskine

    2013-01-01

    Adult Onset Still’s Disease (AOSD) is a rare inflammatory syndrome mostly seen in young adults. Known for its wide range of clinical manifestations, AOSD often presents with nonremitting systemic signs and symptoms. Many rare case associations have been described with AOSD, but only few with pure red cell aplasia (PRCA). We are presenting a fourth known case of a young female adult with AOSD and PRCA in the literature.

  6. CT and MR Imagings of Semicircular Canal Aplasia

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Chung Hee; Hong, Hyun Sook; Yi, Beom Ha; Cha, Jang Gyu; Park, Seong Jin; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2009-07-15

    To evaluate the clinical, CT and MR imaging findings of semicircular canal (SCC) aplasia and to evaluate if a correlation exists between these findings and the associated anomalies or syndromes. This study retrospectively reviewed the CT and MRI findings of five patients with SCC aplasia. The CT and MR findings were analyzed for SCC, direction of facial nerve canal, cochlea, vestibule, oval or round window, middle ear ossicles, and internal auditory canal (IAC). The subjects included three boys and two girls ranging in age from one to 120 months (mean age; 51 months). Four of the subjects had the CHARGE syndrome, and one had the Goldenhar syndrome. Moreover, four subjects had sensorineural hearing loss and one had combined hearing loss. The course of the facial nerve canal was abnormal in all five cases. Moreover, trapped cochlea and dysplastic modiolus were each observed in one case. Four subjects had atresia of the oval window; whereas ankylosis of the ossicles was present in three subjects. IAC stenosis was present in one patient with the CHARGE syndrome. The aberrant course of the facial nerve canal, atresia of the oval window, and abnormal ossicles were frequently associated in patients with SCC aplasia. In addition, the Goldenhar and CHARGE syndromes were also commonly associated syndromes.

  7. Atrophia maculosa varioliformis cutis. Report of two cases and review of the literature.

    Science.gov (United States)

    Kolenik, S A; Perez, M I; Davidson, D M; Morganroth, G S; Kohn, S R; Bolognia, J L

    1994-05-01

    Atrophia maculosa varioliformis cutis was initially described in 1918 as an entity in which both linear and punctate scars appeared spontaneously on normal facial skin. To the best of our knowledge, only five additional cases have been described. We describe two patients, 14 and 20 years of age, whose histories and clinical lesions fit the description of atrophia maculosa varioliformis cutis. The histologic findings are also described, and the literature to date is reviewed.

  8. A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited

    Directory of Open Access Journals (Sweden)

    Abhijit Dutta

    2016-01-01

    Full Text Available De Barsy syndrome (DBS, synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities. We present here an account of 5-year follow-up since the birth of an Indian boy with DBS, who had a few rare and unusual manifestations. In addition, our case probably represents the first reported case of DBS from India.

  9. Idiopathic Calcinosis Cutis over Elbow in a 12-Year Old Child

    Directory of Open Access Journals (Sweden)

    S. K. Venkatesh Gupta

    2013-01-01

    Full Text Available Calcinosis cutis is an uncommon disorder caused by an abnormal deposit of calcium phosphate in the skin in various parts of the body. Four main types of calcinosis cutis have been recognized according to etiology: associated with localized or widespread tissue changes or damage (dystrophic calcification, that associated with an abnormal calcium and phosphorus metabolism (metastatic calcification, not associated with any tissue damage or demonstrable metabolic disorder (idiopathic calcification, and Iatrogenic. Very few cases of idiopathic calcinosis cutis are reported in early childhood in the literature. We report one such case of idiopathic calcinosis cutis over elbow in a 12-year-old female child. Histological examinations of the lesions resected in this case reveal calcium deposits in the dermis, surrounded by foreign body giant cells. Idiopathic calcinosis cutis is a rare phenomenon and occurs in the absence of known tissue injury or systemic metabolic defect. It is important to delineate it from other calcification disorders for further plan of management. Medical therapy in calcinosis cutis is of limited benefit in pediatric age group and poses a challenging problem of postsurgical management.

  10. 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.

  11. Leishmaniasis recidiva cutis of the lips mimicking granulomatous cheilitis

    Directory of Open Access Journals (Sweden)

    Özlem Ekiz

    2015-01-01

    Full Text Available Leishmaniasis recidiva cutis (LRC is an unusual form of acute cutaneous leishmaniasis. Herein, we present a case of LRC of the lips mimicking granulomatous cheilitis. An 8-year-old, Syrian child admitted with a swelling and disfigurement of his lips for 4 years. Abundant intra and extracellular Leishmania amastigotes were determined in the smear prepared from the lesion with Giemsa stain. Histopathology showed foamy histiocytes and leishmania parasites within the cytoplasm of macrophages in the epidermis and a dense dermal mixed type inflammatory cell infiltrate composed of lymphocytes, foamy histiocytes with multinucleated giant cells. On the basis of anamnestic data, the skin smears results, clinical and histopathologic findings, LRC was diagnosed. The patient was treated with meglumine antimoniate intramuscularly and fluconazole orally. Cryotherapy was applied to the residual papular lesions. The lesion improved markedly at the first month of the treatment.

  12. Association of cutis laxa and genital prolapse: a case report.

    Science.gov (United States)

    Paladini, Dario; Di Spiezio Sardo, Attilio; Mandato, Vincenzo Dario; Guerra, Germano; Bifulco, Giuseppe; Mauriello, Silvana; Nappi, Carmine

    2007-11-01

    Cutis laxa (CL) is an extremely inherited or acquired connective tissue disorder characterised by a markedly reduced systemic elastin content. Genital abnormalities in patients with CL have been rarely reported. We report such a case in a 48-year-old CL patient affected by genital prolapse, focusing on immunohistological and molecular biology assessment of elastin and collagen type I, III, VI content in the main uterine ligaments. The woman was referred to our department for the onset of a rapidly progressing genital prolapse and urinary incontinence. The patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy and sacrocolpopexy. Punch biopsies from both cardinal and uterosacral ligaments revealed a dramatic reduction in elastin and an increase in collagen type VI content. The present report seems to underline the central role exerted primarily by elastin in the supportive connective tissue and might contribute to the knowledge of extracellular matrix abnormalities at the basis of genital abnormalities in CL patients.

  13. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

    Science.gov (United States)

    Farag, T I; al-Awadi, S A; Marafie, M J; Bastaki, L; al-Othman, S A; Mohammed, F M; AlSuliman, I S; Murthy, D S

    1993-01-01

    A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

  14. 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.

  15. 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. 

  16. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    DeBauche, D.M.; Pai, G.S.; Stanley, W.S. (Medical Univ. of South Carolina, Charleston (USA))

    1990-02-01

    Dyskeratosis congenita (DC) is an inherited disorder characterized by reticular pigmentation of the skin, dystrophic nails, mucosal leukoplakia, and a predisposition to cancer in early adult life. In the majority of cases, DC is an X-linked recessive trait. However, one or more autosomal form(s) of DC may exist. Although excessive spontaneous chromatid breakage has been reported in DC, it is not a consistent cytological marker for this disorder. We examined the frequency and specificity of X-irradiation-induced G2 chromatid breakage in fibroblasts from three unrelated DC patients (two males and one female). Metaphase cells from DC patients had significantly more chromatid breaks (16-18-fold and 17-26-fold at 50 and 100 rad X-irradiation, respectively) and chromatid gaps (10-12-fold and 6-7-fold at 50 and 100 rad, respectively) than those from two different controls. Analysis of banded chromosomes revealed a nonrandom distribution of chromatid aberrations in DC but not in controls, a distribution corresponding to some of the known breakpoints for cancer-specific rearrangements, constitutive fragile sites, and/or loci for cellular proto-oncogenes. The significance of this finding for cancer predisposition in DC patients is uncertain, but the increased susceptibility of X-irradiation-induced chromatid breakage may serve as a cellular marker of diagnostic value.

  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- 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.

  19. 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.

  20. Aplastic anemia associated with dyskeratosis congenita treated with antilymphocyte globulin and cyclosporine: a case report

    Institute of Scientific and Technical Information of China (English)

    Hsiu-Mei Huang; Wen-Liang Yu; Yu-Lun Huang; Wei-Shiou Hwang; Chao-Jung Tsao; Hsiao-Sheng Liu; Guan-Cheng Huang

    2005-01-01

    @@ Dyskeratosis congenita (DC) is a severe inherited disease characterized by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia.1 Bone marrow failure is the principal cause of early mortality, together with an increased predisposition to malignancy and fatal pulmonary complications. According to the dyskeratosis congenita registry, a peripheral blood cytopenia of one or more lineages is reported in 93% of patients, with 51% developing pancytopenia before the age of 10 years.2 In patients with DC, bone marrow failure or bone marrow failure treatment-associated complications account for 67% of total mortality.3 Therefore, management of bone marrow failure syndrome is crucial in patients with DC.

  1. Anesthetic management of a neonate with arthrogryposis multiplex congenita for emergency laparotomy

    Directory of Open Access Journals (Sweden)

    Rajat Chowdhuri

    2011-01-01

    Full Text Available Arthrogryposis multiplex congenita is a rare disease, characterized by non-progressive, multiple joint contractures since birth. Anesthetic issues include difficult intravenous access, difficult airway management and regional anesthesia. We report the anesthetic management of a six-day-old neonate presenting to the emergency with features of intestinal obstruction, who was detected for the first time to have arthrogryposis multiplex congenita. General anesthesia along with caudal analgesia for peroperative and postoperative pain relief was used. There was an episode of intraoperative hyperthermia, which was tackled successfully. The child had an uneventful post-anesthesia recovery.

  2. 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.

  3. A case of congenital aplasia of the epiglottis in an adult.

    Science.gov (United States)

    Kim, Yang Jae; Myung, Nam Suk; Lee, Hyoung Ju; Koo, Soo Kweon

    2014-01-01

    Aplasia or hypoplasia of the epiglottis in an adult is rarely reported congenital anomaly of the larynx. Most patients with epiglottic aplasia have presented fatal symptom of respiratory distress and severe aspiration in infancy or childhood. We present a case of congenital absence of the epiglottis found in a 33-year-old woman complaining of recurrent lingual tonsillitis. Laryngoscopic finding and CT scan revealed an isolated epiglottic aplasia and normal appearance of other laryngeal structure. This is the first description of physiologic evaluation in an epiglottic anomaly to find the compensatory mechanism of aspiration prevention. We discussed this case with a review of literature.

  4. Pseudofolliculitis cutis: a vexing disorder of hair growth.

    Science.gov (United States)

    Jasterzbski, T J; Schwartz, R A

    2015-04-01

    Pseudofolliculitis cutis (PFC) is a troublesome and potentially disfiguring cutaneous disorder characterized by a chronic inflammatory response to ingrown hair. Despite a simple precipitating stimulus, ingrown hair, PFC has a relatively complex aetiology that can involve grooming practices, hair type, genetic predisposition and medication history. Curly hair and a single-nucleotide substitution in the gene encoding keratin 75 may act synergistically to increase the risk for developing this condition. PFC is most common in men of sub-Saharan African lineage, but can occur in men and women of many different ethnicities, particularly in body areas where hair is coarse, abundant and subject to traumatic removal. Treatment options for PFC can be divided into three main categories: modifying hair removal practices, managing symptoms with medication, and long-term hair removal with laser therapy. Laser hair removal is safe and effective in most skin types and has become increasingly popular among dermatologists in the treatment of PFC. However, it is imperative that the laser system and parameters are specifically matched to the patient's skin type.

  5. Recurrent thymoma with stiff-person syndrome and pure red blood cell aplasia.

    Science.gov (United States)

    Kobayashi, Rei; Kaji, Masahiro; Horiuchi, Sho; Miyahara, Naofumi; Hino, Yumi; Suemasu, Keiichi

    2014-05-01

    Stiff-person syndrome (formerly known as stiff-man syndrome) is a very rare autoimmune and neurogenic disorder, thought to present as a paraneoplastic variant in association with thymoma. Pure red blood cell aplasia is also a paraneoplastic disorder associated with thymoma. Although separate cases of stiff-person syndrome and pure red blood cell aplasia have been reported, we describe here what is to our knowledge the first case of recurrent thymoma with both stiff-person syndrome and pure red blood cell aplasia. We describe the successful treatment of the neurogenic symptoms of stiff-person syndrome and the progressive anemia associated with pure red blood cell aplasia by tumor excision.

  6. Lack of Erythropoietic Inhibitory Effect of Serum From Patients with Congenital Pure Red Cell Aplasia

    Science.gov (United States)

    Geller, Gary; And Others

    1975-01-01

    Serum of five children ages 1 to 19 months with congenital pure red cell aplasia (incomplete or defective development of red blood cells) was injected in normal mice to determine possible inhibition of red blood cell formulating stimulants. (CL)

  7. Pediatric red cell disorders and pure red cell aplasia.

    Science.gov (United States)

    Perkins, Sherrie L

    2004-12-01

    Anemia in children may arise from a wide variety of pathogenetic mechanisms that include congenital and acquired disorders. Often the diagnostic considerations include disorders that are not seen commonly in adults and lifelong disorders that arise in children and persist throughout life. Consideration of diverse causes of anemia such as red cell membrane disorders, red cell enzymopathies, congenital dyserythropoietic anemias, congenital sideroblastic anemias, and hereditary pure red cell aplasia (Diamond-Blackfan anemia), as well as infectious causes such as parvovirus B19 infection, often is required when diagnosing anemia in an infant or young child. Knowledge of these entities that are important causes of anemia in the pediatric population, including clinical manifestations and laboratory workup, will aid in recognition of the specific disease entities and effective workup of pediatric red cell disorders.

  8. 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.

  9. Pure red cell aplasia following autoimmune hemolytic anemia: an enigma.

    Science.gov (United States)

    Saha, M; Ray, S; Kundu, S; Chakrabarti, P

    2013-01-01

    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.

  10. Influence of cold working on microstructure and properties of annealing CuTi4 alloy

    OpenAIRE

    J. Konieczny; Z. Rdzawski

    2012-01-01

    Purpose: The aim of this study was to investigate the effect of cold plastic deformation of the supersaturation on the structure and properties of the CuTi4 alloy after aging.Design/methodology/approach: CuTi4 alloy of supersaturation temperature of 900°C after heating for 1 hour. After solutioning alloy was processed in two ways: first aged in the temperature range 450-600°C and the second stage rolling reduction with Z=50%, and then aged in the temperature range 450-600°C.Findings: The resu...

  11. 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.

  12. High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

    OpenAIRE

    2011-01-01

    Abstract Background: Congenital malformations involving the Mullerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome occurs with an incidence of around 1 in 4,500 female births, and occurs in both isolated and syndromic forms. Previous reports have suggested that a proportion of cases, especially syndromic cases, are caused by variation in c...

  13. Treatment of wrist deformities in children with arthrogryposis multiplex congenita

    Directory of Open Access Journals (Sweden)

    Евгения Александровна Коченова

    2016-03-01

    Full Text Available Introduction: Treatment of wrist contractures in children with arthrogryposis multiplex congenita (AMC is extremely problematic because of the high incidence of recurrence. This study aimed to improve the outcome of wrist contracture treatment in children with AMC.Materials and Methods: A total of 90 patients (162 wrists were examined and treated. Patients were assessed using a number of clinical, radiological, and electrophysiological examinations. There are several different clinical variants of wrist contracture, including flexion contracture of the wrist, flexion contracture associated with ulnar deviation, and isolated ulnar deviation of the wrist. Patients were divided into three groups according to the level of spinal cord lesion: С6-С7, С5-С8, and С5-Th1. As the number of damaged spinal cord segments increased, the amplitude of passive and active movements, degree of passive correction, muscle power, and wrist function decreased. Surgical treatment involved the following three approaches: tendon transfers, tendon transfers and carpal wedge osteotomy, and tendon transfers with carpal wedge osteotomy and shortened osteotomy of the forearm.Results: Analysis of treatment results showed that patients with segmental spinal cord lesions at the  С6-С7 and С5-С8 level were mostly associated with a good outcome, whereas patients with lesions at the  С5-Th1 level achieved satisfactory outcomes.Conclusions: Patients with segmental lesions of the spinal cord at the С6-С7 and С5-С8 level were associated with restoration of active wrist extension up to the neutral position or more and were expected to achieve significant improvement of hand function. Patients with spinal cord lesions at the C5-Th1 level exhibited significant lesions of the muscles, along with bone deformities. Consequently, surgical treatment could only achieve functional wrist position with minimal improvement of hand function. Using differential approaches in the

  14. 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. PMID:27828644

  15. 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.

  16. 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

  17. A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

    NARCIS (Netherlands)

    Asbeck, E. Van; Wolthuis, D.F.; Mohamed, M.; Wevers, R.A.; Korenke, C.G.; Gardeitchik, T.; Morava, E.

    2014-01-01

    Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes. Our patient has a unique combination of feat

  18. 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

  19. Pure red cell aplasia and lymphoproliferative disorders: an infrequent association.

    Science.gov (United States)

    Vlachaki, Efthymia; Diamantidis, Michael D; Klonizakis, Philippos; Haralambidou-Vranitsa, Styliani; Ioannidou-Papagiannaki, Elizabeth; Klonizakis, Ioannis

    2012-01-01

    Pure red cell aplasia (PRCA) is a rare bone marrow failure syndrome defined by a progressive normocytic anaemia and reticulocytopenia without leukocytopenia and thrombocytopenia. Secondary PRCA can be associated with various haematological disorders, such as chronic lymphocytic leukaemia (CLL) or non-Hodgkin lymphoma (NHL). The aim of the present review is to investigate the infrequent association between PRCA and lymphoproliferative disorders. PRCA might precede the appearance of lymphoma, may present simultaneously with the lymphoid neoplastic disease, or might appear following the lymphomatic disorder. Possible pathophysiological molecular mechanisms to explain the rare association between PRCA and lymphoproliferative disorders are reported. Most cases of PRCA are presumed to be autoimmune mediated by antibodies against either erythroblasts or erythropoietin, by T-cells secreting factors selectively inhibiting erythroid colonies in the bone marrow or by NK cells directly lysing erythroblasts. Finally, focus is given to the therapeutical approach, as several treatment regimens have failed for PRCA. Immunosuppressive therapy and/or chemotherapy are effective for improving anaemia in the majority of patients with lymphoma-associated PRCA. Further investigation is required to define the pathophysiology of PRCA at a molecular level and to provide convincing evidence why it might appear as a rare complication of lymphoproliferative disorders.

  20. [Amyoplasia congenita: a serious congenital abnormality with a relatively favorable prognosis

    NARCIS (Netherlands)

    Petru, R.; Verrips, A.; Ravenswaaij-Arts, C.M.A. van

    2002-01-01

    After an uneventful pregnancy a girl was born with serious joint contractures and several fractures of the long bones. The family history was negative for congenital abnormalities. Based on the distinct clinical presentation the diagnosis was 'amyoplasia', which is a partial aplasia of skeletal musc

  1. Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

    Science.gov (United States)

    Ravenscroft, Gianina; Nolent, Flora; Rajagopalan, Sulekha; Meireles, Ana M.; Paavola, Kevin J.; Gaillard, Dominique; Alanio, Elisabeth; Buckland, Michael; Arbuckle, Susan; Krivanek, Michael; Maluenda, Jérome; Pannell, Stephen; Gooding, Rebecca; Ong, Royston W.; Allcock, Richard J.; Carvalho, Ellaine D.F.; Carvalho, Maria D.F.; Kok, Fernando; Talbot, William S.; Melki, Judith; Laing, Nigel G.

    2015-01-01

    Arthrogryposis multiplex congenita is defined by the presence of contractures across two or more major joints and results from reduced or absent fetal movement. Here, we present three consanguineous families affected by lethal arthrogryposis multiplex congenita. By whole-exome or targeted exome sequencing, it was shown that the probands each harbored a different homozygous mutation (one missense, one nonsense, and one frameshift mutation) in GPR126. GPR126 encodes G-protein-coupled receptor 126, which has been shown to be essential for myelination of axons in the peripheral nervous system in fish and mice. A previous study reported that Gpr126−/− mice have a lethal arthrogryposis phenotype. We have shown that the peripheral nerves in affected individuals from one family lack myelin basic protein, suggesting that this disease in affected individuals is due to defective myelination of the peripheral axons during fetal development. Previous work has suggested that autoproteolytic cleavage is important for activating GPR126 signaling, and our biochemical assays indicated that the missense substitution (p.Val769Glu [c.2306T>A]) impairs autoproteolytic cleavage of GPR126. Our data indicate that GPR126 is critical for myelination of peripheral nerves in humans. This study adds to the literature implicating defective axoglial function as a key cause of severe arthrogryposis multiplex congenita and suggests that GPR126 mutations should be investigated in individuals affected by this disorder. PMID:26004201

  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. 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.

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

    Directory of Open Access Journals (Sweden)

    Annie K. Hung

    2015-01-01

    Full Text Available 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 entity, there have been good outcomes associated with renal transplant and subsequent immunosuppression. In this case, a chronic liver disease patient developed anti-erythropoietin associated pure red cell aplasia and recovered after liver transplantation and immunosuppression. It is unclear whether it is the transplanted organ, the subsequent immunosuppression, or the combination that contributed to the response. In conclusion, anti-erythropoietin associated pure red cell aplasia is a serious complication of erythropoietin therapy, but this entity should not be considered a contraindication for solid organ transplantation.

  6. Treatment of pure red-cell aplasia with cyclosporine in a renal transplant patient.

    Science.gov (United States)

    Yildirim, Rahsan; Bilen, Yusuf; Keles, Mustafa; Uyanik, Abdullah; Gokbulut, Puren; Aydinli, Bulent

    2013-02-01

    Acquired pure red-cell aplasia is a rare disorder that can be either idiopathic or associated with certain autoimmune diseases, pregnancy, lymphoproliferative disorders, nutritional deficiencies, or medicines. We present a deceased-donor renal transplant patient who developed pure red-cell aplasia associated with mycophenolate mofetil or tacrolimus and was treated with cyclosporine. A 20-year-old woman was transplanted from a deceased donor 1 month earlier and presented to us with symptoms of fatigue, prostration, and palpitation. The results of a laboratory examination revealed anemia. A diagnostic work-up resulted in a diagnosis of pure red-cell aplasia. Mycophenolate mofetil was discontinued. Tacrolimus also was replaced with cyclosporine 2 months after mycophenolate mofetil was halted because of a lack of improvement in anemia. Three months later, her anemia improved with cyclosporine. Starting cyclosporine instead of tacrolimus or mycophenolate mofetil showed good improvement in our patient within 6 months of therapy.

  7. 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

  8. 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

  9. 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.

  10. A Rare Case of Coexistence of Borderline Lepromatous Leprosy with Tuberculosis Verrucosa Cutis

    Science.gov (United States)

    Prabhakaran, Nagendran; Chandrashekar, Laxmisha; Behera, Biswanath

    2016-01-01

    Occurrence of pulmonary tuberculosis with leprosy is known but association of cutaneous tuberculosis with leprosy is rare. We report a case of borderline lepromatous leprosy coexistent with tuberculosis verrucosa cutis in a 29-year-old male, who presented with multiple skin coloured nodules and hyperkeratotic scaly lesions of 3-month duration. Dual infections are associated with high mortality and morbidity. Therefore early diagnosis and management helps to reduce mortality and to mitigate the effects of morbidity. PMID:28003920

  11. 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.

  12. Multiple Tuberculosis Verrucosa Cutis Lesions on One Foot: A Case Report

    Directory of Open Access Journals (Sweden)

    Seyamak Saleky

    2015-09-01

    Full Text Available Tuberculosis verrucosa cutis (TVC is a form of cutaneous tuberculosis caused by an exogenous inoculation of Mycobacterium tuberculosis in previously infected or sensitized individuals. Tuberculin sensitivity is moderate to high in these patients. In adults tuberculosis verrucosa cutis occurs commonly on the dorsal aspect of fingers and toes but in children it often occurs on gluteal region and lower extremities. A 36-year-old man presented with verrucous lesion on his right foot which was present for 9 years. It was understood from history that he worked as a rancher. On dermatologic examination 3 verrucous hiperkeratotic plaques were present on medial and plantar aspects of the right foot and also on dorsal aspect of the forth toe of the same foot. In serial biopsy specimens which was obtained from the lesions, histopathologic findings compatible with tuberculosis verrucosa cutis was observed. On the chest X-ray and thoracic tomography there were no sign of infection related with tuberculosis and changes secondary to previous tuberculosis on the left lung were observed. After commencing anti tuberculosis therapy regime consisting of isoniazid, rifampicin, morphazinamide and ethambutol obvious healing in the lesions occurred. This rarely reported case in Turkey showed the importance of histopathologic changes observed in serial biopsies in diagnosis of TVC besides history and clinical course of the lesions. It also emphasized the role of response to treatment in confirming the diagnosis.

  13. Galactose-1-phosphate uridyl transferase deficiency is not associated with Mullerian aplasia in Dutch patients.

    NARCIS (Netherlands)

    Nijland, R.; Hartog, F.E.; Wevers, R.A.; Wanders, R.J.; Willemsen, W.N.P.

    2009-01-01

    STUDY OBJECTIVE: To study whether a deficiency in galactose-1-phosphate uridyl transferase (GALT) activity of mothers was an explanation for the occurrence of Mullerian aplasia of their daughters. DESIGN: A case control study. SETTING: The patients were selected from the outpatient clinic of the Uni

  14. [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...

  15. 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.

  16. 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.

  17. 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

  18. A case of dyskeratosis congenita with primary amenorrhea and adenocarcinoma of stomach

    Directory of Open Access Journals (Sweden)

    Nandini Chakrabarti

    2011-01-01

    Full Text Available Dyskeratosis congenita (DC is a rare disease characterized by hyperpigmentation, nail dystrophy and mucous membrane abnormality. Commonly occurring in males, the patients die young usually due to bone marrow suppression. Malignancies of various descriptions have been reported in this disease, the commonest being solid tumors of head/neck (squamous cell carcinoma. We report the case of a female patient with DC, who presented to us with severe wasting and primary amenorrhea and died of carcinoma stomach in our hospital 3 weeks later.

  19. [Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].

    Science.gov (United States)

    Folligan, K; Roume, J; Razavi, F; Sepaniak, S; Bouvier, R; Morel, Y; Trouillas, J

    2011-03-01

    Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.

  20. Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia.

    Science.gov (United States)

    Saito, Yoshiaki; Hayashi, Masaharu; Miyazono, Yayoi; Shimogama, Tatsuro; Ohno, Kousaku

    2006-05-01

    We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and the cerebellum, may be involved in the pathophysiology of symptomatic generalized epilepsy. The differential diagnoses for the clinical and pathological characteristics of this patient are discussed.

  1. 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.

  2. Thermal behaviour of Cu-Ti and Cu-Ti-H amorphous powders prepared by ball milling

    Energy Technology Data Exchange (ETDEWEB)

    Baricco, M. (Ist. Elettrotecnico Nazionale Galileo Ferraris and INFM/GNSM, Research Unity, Turin (Italy)); Battezzati, L. (Dipt. di Chimica Inorganica, Chimica Fisica e Chimica dei Materiali, Turin Univ. (Italy)); Soletta, I.; Schiffini, L. (Dipt. di Chimica, Univ. di Sassari (Italy)); Cowlam, N. (Dept. of Physics, Univ. of Sheffield (UK))

    1991-03-25

    Solid state amorphization reactions in Cu-Ti have been studied by means of DSC and structural techniques. The influence of hydrogen from the parent titanium powder on the amorphization and crystallization processes has been investigated. For Cu-Ti a diffusion-controlled process can be inferred for solid state amorphization from the parabolic trend of the heat of crystallization, as a function of the milling time. The presence of hydrogen in the alloys is found to modify the crystallization behaviour of the amorphous phase. A DSC method for the determination of the amount of hydrogen present in the alloys is given. (orig.).

  3. Cutis trichomoniasis: 18 cases reports%皮肤滴虫病18例报告

    Institute of Scientific and Technical Information of China (English)

    郑国庆; 黄朝晖

    2003-01-01

    Objective To find cutis trichomoniasis. Materials Secretions of the patients come from their lesions. Methods Adopt CBT to check trichomonad from patients in our hospital and treat these patients with metronidazole taken orally and metronidazole cream used on the lesion surface to investigate their effect.Results We have found cutis trichomoniasis firstly in the world and we have found that CBT is the best way for diagnosis to cutis trichomoniasis. Metronidazole taken orally and metronidazole cream used on the lesion surface are effective and cheap ways for treatment.%目的探索皮肤滴虫的发病情况.方法通过所见18例皮肤滴虫病进行分析,本组病人大多为已婚男性,多发于龟头包皮内,也见于阴茎、阴囊、女阴、臀部、前臂、下腹、下肢、腋窝、躯干、肛门等处,主要表现为瘙痒、有丘疹、脱屑、结痂或溃疡.经内服甲硝唑,局部对症处理,7~14天治愈.结论皮肤滴虫病为作者首次发现,在万余人口的小镇上怀疑皮肤滴虫病40余例证实18例,说明本病并非罕见.

  4. The Densification of Cu/Ti System by Spark Plasma Sintering

    Institute of Scientific and Technical Information of China (English)

    ZHANG Jinyong; TAN Tianya; FU Zhengyi; WANG Weimin

    2005-01-01

    In order to unclose the dynamics of SPS densification, a special sintering sample (Cu/Ti wires compact) was designed. Characters of the shrinkage rates during sintering process and microstructures of products fabricated by the spark plasma sintering(SPS) and hot-press sintering were investigated. The experimental results reveal that a higher temperature field is formed at the connected area and conductive net of the compact. These high-temperature parts deformed more easily than other parts, which is believed to be the main cause of SPS fast densification, according to a hard-core and soft-hell material model.

  5. 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.

  6. Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

    Directory of Open Access Journals (Sweden)

    Edward J. Bellfield

    2016-01-01

    Full Text Available We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype. Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings.

  7. Bilateral posterior semicircular canal aplasia and atypical paroxysmal positional vertigo: a case report

    OpenAIRE

    Walther, LE; Nath, V.; Krombach, GA; Di Martino, E

    2008-01-01

    Isolated congenital malformations of semicircular canals are rare abnormalities. Most inner ear abnormalities occur in syndromes and are associated with hearing loss. Unilateral or bilateral single aplasia of one semicircular canal does not usually result in vertigo, but these become clinically important if there are clinical complaints of vertigo. Computed tomography imaging and high resolution magnetic resonance imaging may reveal inner ear abnormalities. The case is presented here of a 46-...

  8. [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.

  9. What Is Expected of the Facial Nerve in Michel Aplasia? Anatomic Variation

    OpenAIRE

    2010-01-01

    We sought better understanding about the facial nerve anatomy in the rare inner ear Michel anomaly to help better define this aplasia and prevent potential complications in surgery on these patients. The data from computed tomography scans and magnetic resonance images of six Michel aplastic ears (three patients) were evaluated for a facial nerve course. Facial nerve course and anatomic landmarks were noted. Based on data obtained from this group of very rare patients, three different facial ...

  10. [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.

  11. 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...

  12. DNA Damage and Oxidative Stress in Dyskeratosis Congenita: Analysis of Pathways and Therapeutic Stategies Using CPISPR and iPSC Model Systems

    Science.gov (United States)

    2016-06-01

    1 AWARD NUMBER: W81XWH-15-1-0099 TITLE: DNA Damage and Oxidative Stress in Dyskeratosis Congenita: Analysis of Pathways and Therapeutic... DNA Damage and Oxidative Stress in Dyskeratosis Congenita: Analysis of Pathways and Therapeutic Stategies Using CPISPR and iPSC Model Systems 5c...stem cell pools. Our previous findings support a hypothesis whereby shortened telomeres increase DNA damage responses within the cell leading to

  13. Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita

    Directory of Open Access Journals (Sweden)

    Benjaporn Panichareon

    2015-08-01

    Full Text Available Dyskeratosis congenita (DKC is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2 and TERC by direct DNA sequencing in a Thai patient with DKC. We identified a novel mutation (c.845G>T that is located in exon 6 of TINF2 and changes an arginine to leucine (Arg282Leu. This identified mutation could be applied for molecular genetic diagnosis and genetic counseling of patients with DKC.

  14. 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.

  15. OPEN REDUCTION OF HIP DISLOCATION IN PATIENTS WITH ARTHROGRYPOSIS MULTIPLEX CONGENITA – AN ANTEROMEDIAL APPROACH

    Science.gov (United States)

    Rocha, Luis Eduardo Munhoz da; Nishimori, Fábio Koiti; Figueiredo, Daniel Carvalho de; Grimm, Dulce Helena; Cunha, Luiz Antonio Munhoz da

    2015-01-01

    To evaluate the results from surgical treatment of hip dislocation through the anteromedial approach, in patients with arthrogryposis multiplex congenita (AMC). Methods: The medical files and radiographs of seven children with AMC who presented hip dislocation (total of 10 dislocated hips) were retrospectively reviewed. Pre and postoperative joint mobility was evaluated by summing the joint range of motion in flexion and abduction. The acetabular angle and height of the femoral neck before the operation, and the continuity of the Shenton arc, Sharp angle and center-edge (CE) angle after the operation, were evaluated radiographically. When avascular necrosis was identified, it was classified in accordance with Ogden and Bucholz. Results: The mean age of the children at the time of the surgery was 5.5 months (range: 3 to 11 months). The mean duration of follow-up for the patients was 9.5 years (range: 2 to 13 years). The mean amplitude of the sum of the joint range of motion in flexion and abduction in the preoperative examination was 108° (range: 70° to 155°) and postoperatively, it was 125° (range: 75° to 175°). In the last evaluation, eight hips were found to be centered and two were subluxated. Two hips had been subjected to Salter iliac osteotomy. Two hips (20%) had presented significant signs of Ogden type IV avascular necrosis. Eight hips had good results while two were fair. Conclusion: We consider that the anteromedial approach is a good option for treating hip dislocation in very young patients with arthrogryposis multiplex congenita. PMID:27022586

  16. 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.

  17. 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.

  18. 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.

  19. 独立摇滚乐队Death Cab For Cutie 3人同行

    Institute of Scientific and Technical Information of China (English)

    2016-01-01

    美国独立摇滚乐队Death Cab For Cutie(简称DCFC)3月份首度访香港,笔者早前就与鼓手Jason McGerr(左)隔空对谈,大谈他对主脑兼吉他手Chris Walla离队的感觉及乐队往后的方向。今年3月,DCFC还发展了睽违4年的新作《Kintsugi(金缮)》,见证了乐队持续累积的成长,歌曲架构更加精练,他们依然是备受期待的独立摇滚乐队之一。

  20. 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.)

  1. Metastatic Calcinosis Cutis: A Case in a Child with Acute Pre-B Cell Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Juan Pablo Castanedo-Cázares

    2015-01-01

    Full Text Available Hypercalcemia in children with malignancy is an uncommon condition. It has been described in leukemia patients with impaired renal excretion of calcium or osteolytic lesions. Metastatic calcinosis cutis (MCC may develop if hypercalcemia persists. We report the case of a 5-year-old girl with an atypical dermatosis and unspecific gastrointestinal symptoms. Considered clinical diagnoses were xanthomas, histiocytosis, molluscum contagiosum, and nongenital warts. Cutaneous histological analysis showed amorphous basophilic deposits in the dermis suggestive of calcium deposits. Laboratory tests confirmed serum hypercalcemia. Extensive investigations such as bone marrow biopsy established the diagnosis of an acute pre-B cell lymphoblastic leukemia. Hypercalcemia in hematopoietic malignancies is unusual, especially as initial manifestation of the disease. Careful review of the literature fails to reveal previous reports of these peculiar cutaneous lesions of MCC in children with leukemia.

  2. [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.

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

    Directory of Open Access Journals (Sweden)

    Nagesh Kamath

    2016-01-01

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

  4. Pure red cell aplasia due to azathioprine therapy for Crohn's disease.

    Science.gov (United States)

    Kamath, Nagesh; Pai, C Ganesh; Deltombe, Thylbert

    2016-01-01

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

  5. 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.

  6. Cutis Laxa

    Science.gov (United States)

    ... Japanese Espaniol Find information on medical topics, symptoms, drugs, procedures, news and more, written in everyday language. * This is ... 2016 (HealthDay News) -- The war against infectious diseases -- medicine versus microbes -- has been holding steady... More News Tweets by Merck and the Merck Manuals Merck & ...

  7. 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.

  8. Bilateral posterior semicircular canal aplasia and atypical paroxysmal positional vertigo: a case report.

    Science.gov (United States)

    Walther, L E; Nath, V; Krombach, G A; Di Martino, E

    2008-04-01

    Isolated congenital malformations of semicircular canals are rare abnormalities. Most inner ear abnormalities occur in syndromes and are associated with hearing loss. Unilateral or bilateral single aplasia of one semicircular canal does not usually result in vertigo, but these become clinically important if there are clinical complaints of vertigo. Computed tomography imaging and high resolution magnetic resonance imaging may reveal inner ear abnormalities. The case is presented here of a 46-year-old male with a 10-year history of recurrent positional vertigo with strong onset when changing position to the left side. Magnetic resonance imaging of the inner ear showed a bilateral posterior semicircular canal aplasia as well as an enlarged vestibule on both sides. Dix-Hallpike positional manoeuvre revealed a positional nystagmus in the left head-hanging position of short duration and latency of a few seconds. When rising, vertigo occurred, but no nystagmus was visible. The fast phase of the nystagmus was mainly vertical down-beating with a slight torsional component to the uppermost ear. Although benign paroxysmal vertigo of the anterior canal was suspected, physical therapy was not effective using a modified liberatory manoeuvre. Brandt-Daroff therapy was effective permanently.

  9. What is expected of the facial nerve in michel aplasia? Anatomic variation.

    Science.gov (United States)

    Zarandy, Masoud Motasaddi; Kouhi, Ali; Kashany, Shervin Sharif; Rabiei, Sohrab; Hajimohamadi, Fatemeh; Rabbani-Anari, Mahtab

    2010-11-01

    We sought better understanding about the facial nerve anatomy in the rare inner ear Michel anomaly to help better define this aplasia and prevent potential complications in surgery on these patients. The data from computed tomography scans and magnetic resonance images of six Michel aplastic ears (three patients) were evaluated for a facial nerve course. Facial nerve course and anatomic landmarks were noted. Based on data obtained from this group of very rare patients, three different facial nerve anatomies were encountered. The first patient had normal-looking mastoid cells, normal middle ear ossicles, and a completely formed facial nerve canal through the middle ear. The second patient had pneumatized mastoid air cells despite an anomalous ossicular chain. This patient also had a facial nerve canal but not through the middle ear. In the third patient, although mastoid cells were present, neither ossicles nor a definite facial nerve canal could be detected. With guidance provided by the anatomy of the other parts of the ear, such as air cells and the ossicular chain, the danger zones posing a high probability of facial nerve injury can be predicted. Although all Michel aplasias may have aplastic petrous bone in common, there are some degrees of variation.

  10. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

    Science.gov (United States)

    Shafeghati, Yousef; Kahrizi, Kimia; Najmabadi, Hossein; Kuss, Andreas Walter; Ropers, Hans-Hilger; Tzschach, Andreas

    2010-12-01

    Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare congenital disorder. Only seven patients have been reported to date, and the etiology of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither parental consanguinity nor pairs of affected siblings were observed. We report on the first patient with this syndrome who was born to consanguineous parents. Neither the mother nor the father, who were first cousins, had clinical features suggestive of a manifestation of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome. The patient had no siblings, and the family history was unremarkable. Clinical problems included brachydactyly of hands and feet, splaying of fingers and toes, preaxial polydactyly of feet, bilateral tibial aplasia, shortened radius and ulna, and characteristic facial dysmorphic signs. The detailed description of this patient adds to our knowledge of the clinical manifestations of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome and will eventually also contribute to the elucidation of the underlying gene defects.

  11. 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.

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

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Barbara Gandolfi

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

  14. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

    Science.gov (United States)

    Ravenscroft, Gianina; Di Donato, Nataliya; Hahn, Gabriele; Davis, Mark R; Craven, Paul D; Poke, Gemma; Neas, Katherine R; Neuhann, Teresa M; Dobyns, William B; Laing, Nigel G

    2016-11-01

    Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements. Both cases were diagnosed at birth with arthrogryposis multiplex congenita (AMC) and hypotonia. Other variable features included congenital fractures, hip dislocation, micrognathia, respiratory insufficiency, microcephaly and bilateral perisylvian polymicrogyria. Patient 1 is 4 years of age and stable, but shows significant motor developmental delay and delayed speech. Patient 2 passed away at 7 weeks of age. Through next generation sequencing we identified the same missense substitution in BICD2 (p.Arg694Cys) in both probands. Sanger sequencing showed that in both cases the mutation arose de novo. The in utero onset in both cases suggests that the p.Arg694Cys substitution may have a more deleterious effect on BICD2 function than previously described mutations. Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1.

  15. Disabling foot cramping in a runner secondary to paramyotonia congenita: a case report.

    Science.gov (United States)

    Fredericson, Michael; Kim, Byung-Jo; Date, Elaine S

    2004-07-01

    An 18-year-old male runner was referred to the authors' clinic with a 1-year history of cramping left foot pain. His symptoms developed insidiously when he increased his training, with an onset of severe left foot pain and tightness that would develop after about 20 minutes of exercise. The more he continued to run, the more the symptoms were aggravated and evolved to the toes curling with intrinsic muscle spasm. This symptom was easily provoked when he was exposed to cold temperature. A family history of similar symptoms was revealed in his sister and uncle. Physical examination including neurologic examination was normal. Diagnostic workup revealed generalized myotonia. According to the history, physical examination, and diagnostic workup, his diagnosis was considered to be most compatible to paramyotonia congenita. He was given phenytoin, which lessened his symptoms and allowed him to continue running with minimal symptoms, but he stopped running because he was not able to maintain mileage high enough to compete successfully.

  16. 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.

  17. 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.

  18. 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.

  19. 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

  20. "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.

  1. Oxygen pumping characteristics of Cu-Ti double substituted bismuth vanadate

    Energy Technology Data Exchange (ETDEWEB)

    Paydar, M.H. [Shiraz Univ. (Iran). Dept. of Metallurgy and Material Sciences; Hadian, A.M. [Teheran Univ. (Iran). Dept. of Metallurgy and Material Sciences; Fafilek, G. [Technische Univ., Vienna (Austria). Inst. fuer Technische Elektrochemie

    2002-07-01

    In the present paper, we are going to report on a detailed study of the characteristics of an electrochemical oxygen pump for an open system using Cu-Ti double substituted bismuth vanadate as the electrolyte. The major objectives are to show a correlation between oxygen pumping current, cell voltage, Faradic efficiency and oxygen production rate. The maximum current density that can be applied without significant structural modification has been determined and the effect of working temperature on the mentioned parameters have been investigated. The results show that there is an Ohmic relationship between current and voltage at low current densities and a deviation towards lower voltages than expected from Ohm's law with increasing current density. The oxygen production rate increased in a linear fashion by increasing the current density while at high current densities, corresponding to the non linear current voltage section, its gradient decline. Under constant current load, at very high current density (I > 800 mAcm{sup -2}), instability in cell potential was observed, which was reversible and supposed to be the effect of electronic percolation. (orig.)

  2. 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.

  3. Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex.

    Science.gov (United States)

    Genuardi, M; Gasparini, P; Neri, G; Zelante, L

    1997-01-20

    The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.

  4. 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.

  5. The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report.

    Science.gov (United States)

    Akhter, N; Begum, B N; Newaz, M

    2015-07-01

    We report on a 22 years old lady with aplasia of uterus and most of the vagina with normal secondary sexual characteristics, unilateral renal hypoplasia and anomalies of cervico throacic somites (MURCS Association), growth retardation, cardiac defect and congenital urethrovaginal fistula. Although there is a broad spectrum of anomalies described with MURCS association genitourinary fistula is not yet reported and reviewed in published articles. The relevance of this paper is to show the importance of further investigation in cases of primary amenorrhoea with mullerian agenesis to establish that the patient has MURCS association and not simply MRKH (Mayer Rokitansky-Kusterhauser Syndrome) syndrome. Consequently we should provide guidance to the patients and their families about the best way to conduct the case including genetic counseling and family screening.

  6. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

    Science.gov (United States)

    de Medeiros, Filipe; Hansen, Lars; Mawlad, Evete; Eiberg, Hans; Asklund, Camilla; Tommerup, Niels; Jakobsen, Linda P

    2008-06-15

    Popliteal pterygium syndrome (PPS) and Van der Woude syndrome (VWS) are caused by mutations in the gene interferon regulatory factor 6 (IRF6). Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both. We report on a patient with unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias. By sequencing IRF6, we detected a novel missense mutation (Arg339Ile). The other family members were unaffected and had no IRF6 mutations, including the patient's brother who was also born with hypospadias. The patient and his brother were both conceived by in vitro fertilization (IVF). It is discussed whether the renal malformation in the patient is related to the IVF procedure or to the IRF6 mutation.

  7. Antiepoetin antibody-related pure red cell aplasia: successful remission with cessation of recombinant erythropoietin alone.

    Science.gov (United States)

    Katagiri, Daisuke; Shibata, Maki; Katsuki, Takashi; Masumoto, Shoichi; Katsuma, Ai; Minami, Eri; Hoshino, Taro; Inoue, Tsuyoshi; Tada, Manami; Hinoshita, Fumihiko

    2010-10-01

    An elderly patient with pure red cell aplasia (PRCA) with antierythropoietin (anti-EPO) antibodies is described. PRCA due to alloimmunization is a rare and severe complication of recombinant human erythropoietin (rHu-EPO) therapy. Most reported patients with PRCA were cured primarily by immunosuppressive drug therapy. The patient in this case, however, did not want to receive any immunosuppressive drugs. Therefore, rHu-EPO injection was simply discontinued, the severe anemia gradually improved, and the hemoglobin approached normal range. This case is very rare and significant in that there have been few such elderly patients with rHu-EPO-induced PRCA in whom PRCA remission was achieved, with decreasing antibody titers, after cessation of rHu-EPO alone. Further cases are needed to assess how PRCA should be treated in patients with anti-EPO antibodies.

  8. Pure red-cell aplasia and autoimmune hemolytic anemia in a patient with acute hepatitis A.

    Science.gov (United States)

    Chang, Hyo Jeong; Sinn, Dong Hyun; Cho, Sung Gyun; Oh, Tae Hoon; Jeon, Tae Joo; Shin, Won Chang; Choi, Won Choong

    2014-06-01

    Pure red cell aplasia (PRCA) and autoimmune hemolytic anemia (AIHA) have rarely been reported as an extrahepatic manifestation of acute hepatitis A (AHA). We report herein a case of AHA complicated by both PRCA and AIHA. A 49-year-old female with a diagnosis of AHA presented with severe anemia (hemoglobin level, 6.9 g/dL) during her clinical course. A diagnostic workup revealed AIHA and PRCA as the cause of the anemia. The patient was treated with an initial transfusion and corticosteroid therapy. Her anemia and liver function test were completely recovered by 9 months after the initial presentation. We review the clinical features and therapeutic strategies for this rare case of extrahepatic manifestation of AHA.

  9. Bilateral submandibular gland aplasia with clinico-radiological mass due to prolapsing sublingual salivary tissue through mylohyoid boutonniere: a case report and review.

    Science.gov (United States)

    Ahmed, M; Strauss, M; Kassaie, A; Shotelersuk, V; DeGuzman, R

    2009-02-01

    Aplasia of major salivary glands is very rare. Compensatory hypertrophy of the rest of the glands can result in clinico-radiological masses. We present a report of a rare case of non-syndromic bilateral submandibular gland aplasia with hypertrophied sublingual salivary tissue, the latter herniating through mylohyoid boutonnière to present as a palpable mass on the left side with corresponding CT findings. Multiplanar evaluation is emphasised by utilizing multidetector CT.

  10. Prevention of pure red cell aplasia after major or bidirectional ABO blood group incompatible hematopoietic stem cell transplantation by pretransplant reduction of host anti-donor isoagglutinins

    OpenAIRE

    Stussi, G.; Halter, J; Bucheli, E; Valli, P V; Seebach, L; Gmür, J; Gratwohl, A; Passweg, J. R.; Seebach, J.D.

    2009-01-01

    BACKGROUND: Persistent anti-donor isoagglutinins after major ABO blood group incompatible hematopoietic stem cell transplantation may cause delayed red blood cell engraftment and post-transplant pure red cell aplasia. DESIGN AND METHODS: We investigated the effect of pretransplant anti-donor isoagglutinin reduction by in vivo absorption and/or plasmapheresis on the incidence of pure red cell aplasia and the time to red blood cell engraftment in 153 hematopoietic stem cell transplant recipient...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-10-15

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

  12. Pure red cell aplasia associated with recombinant erythropoietin: a case report and brief review of the literature.

    Science.gov (United States)

    Mohd Slim, M Atif; Shaik, Riaz

    2013-11-22

    Pure red cell aplasia (PRCA) is a rare adverse effect of recombinant erythropoietin (rEPO). Affected patients rapidly become transfusion-dependent, with many requiring immunosuppressive therapy for remission. We report a confirmed case in an elderly female, possibly the first of its kind in New Zealand, who was started on rEPO for anaemia of chronic kidney disease. We also briefly review current literature on rEPO-associated PRCA.

  13. 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.

  14. Tratamento cirúrgico da ptose palpebral adquirida (linfocitoma cútis Surgical treatment of acquired palpebral ptosis (lymphocitoma cutis

    Directory of Open Access Journals (Sweden)

    L.M. Ferreira

    1997-12-01

    Full Text Available Os autores descrevem um caso clínico de ptose palpebral causada por uma patologia rara, o linfocitoma cútis. A paciente apresentava o quadro clínico do linfocitoma cútis em sua forma disseminada, com sintomatologia visual causada por nódulos palpebrais. A conduta cirúrgica realizada foi a ressecção dos nódulos palpebrais por meio de incisão de blefaroplastia, e o exame histológico confirmou o diagnóstico de linfocitoma cútis. O tratamento cirúrgico realizado foi eficiente para a melhora funcional das pálpebras.A clinical case of acquired palpebral ptosis caused by a rare pathology, lymphocitoma cutis, is reported. An eyelid ptosis was characterized with the patient unable to lift the eyelid. The resection of the eyelid nodules was performed using blefaroplasty incision as access and the result of the anatomopathological examination confirmed the diagnosis: lymphocitoma cutis. The surgical result was satisfactory not only esthetically but also functionally (2-year follow-up.

  15. 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

  16. Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

    NARCIS (Netherlands)

    Fischer-Zirnsak, Bjoern; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E.; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L.; Loh, Abigail; Wright, Graham D.; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K.; Choudhri, Asim F.; Krueger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N.; Mundlos, Stefan; Villarroel, Camilo E.; Byers, Peter; Masri, Amira; Robertson, Stephen P.; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe

    2015-01-01

    Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively,

  17. Phase Equilibria of the Cu-Ti-Er System at 773 K (500 °C) and Stability of the CuTi3 Phase

    Science.gov (United States)

    Zhan, Yongzhong; Peng, Dan; She, Jia

    2012-11-01

    The phase relationships of the Cu-Ti-Er ternary phase diagram at 773 K (500 °C) were investigated mainly by means of X-ray powder diffraction (XRD), scanning electron microscopy (SEM) with energy dispersive spectroscopy (EDS), and differential thermal analysis (DTA). It is confirmed in this work that the binary compounds Cu9Er2 and Cu7Er2 exist in the Cu-Er binary system at 773 K (500 °C). The stability of the CuTi3 phase is confirmed in the Cu-Ti system. After heat treatment at 1023 K (750 °C) for 90 hours, the phase CuTi3 is observed in the microstructure of the alloy 25Cu75Ti. The temperature of the eutectoid transformation, namely, β-Ti ↔ α-Ti + CuTi3, is determined to be 1078 K (805 °C) in this work. The 773 K (500 °C) isothermal section consists of 14 single-phase regions, 25 two-phase regions, and 12 three-phase regions. None of the phases in this system reveals a remarkable homogeneity range at 773 K (500 °C).

  18. 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.

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    Georgios Karaolanis

    2015-01-01

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

  1. [Relapse of autoimmune hemolytic anemia in Evans syndrome after thymectomy for pure red cell aplasia].

    Science.gov (United States)

    Higuchi, Masakazu; Osaki, Koichi; Yamano, Yujiro

    2007-06-01

    A 81-year-old woman was referred to our hospital with pure red cell aplasia (PRCA) associated with a thymoma in May 2005. She had previously suffered from Evans syndrome which had been improved by prednisolone in 1999. She underwent a thymectomy, however her anemia subsequently got worse. Reticulocytopenia was noted and a marrow erythroid series was aplastic. Furthermore, both direct and indirect Coombs tests were positive, and the serum haptoglobin level was low. Based on these findings, the patient was diagnosed as having PRCA complicated with relapsed autoimmune hemolytic anemia (AIHA). The PRCA and AIHA were successfully treated with prednisolone and cyclosporine. To our knowledge, only one case of the PRCA complicated with AIHA after thymectomy has been reported. FoxP3 positive regulatory T-cells (Treg), which maintain immunological self-tolerance, were readily detectable in the excised thymoma. Thus, thymectomy resulted in removal of the Treg pool and might explain the autoimmune activation, believed to be one of the mechanisms of the post-thymectomy recurrence of the AIHA in this case.

  2. [Pure red cell aplasia and hypogammaglobulinemia after administration of Dioscorea rhizome and Poria cocos].

    Science.gov (United States)

    Sato, Takayuki; Ueda, Yasunori

    2015-11-01

    A 56-year-old woman was referred to our department for detailed examination of anemia. She was diagnosed with pure red cell aplasia (PRCA) associated with severe reticulocytopenia based on blood testing and severe erythroblastopenia based on bone marrow aspiration. Blood tests revealed severe hypogammaglobulinemia, but monoclonal protein was not detected in either serum or urine by immunoelectrophoresis. Plasma cells were not increased in bone marrow aspirates or the biopsy specimen. Neither osteolytic lesions nor plasmacytoma was detected by computed tomography. We thus ruled out multiple myeloma. She had been treated with various Chinese herbal medicines prescribed at the referring hospital. We suspected PRCA induced by one of the Chinese herbal medicines and completely discontinued all of these herbal preparations. Hematologic testing revealed that the reticulocyte count and hemoglobin concentration began to recover on day 7 and the hemoglobin concentration and IgG levels had reached reference ranges on day 73 after discontinuation of the Chinese herbal medicines. We suspected Sanyaku (Dioscorea rhizome) or Bukuryou (Poria cocos) to have induced PRCA and hypogammaglobulinemia in this patient. To the best of our knowledge, this is the first report of PRCA and hypogammaglobulinemia induced by a Chinese herbal medicine. Clinicians must consider the possibility of drug-induced PRCA and hypogammaglobulinemia in patients taking Chinese herbal preparations.

  3. 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

  4. Cerebriform intradermal nevus presenting as cutis verticis gyrata with multiple cellular blue nevus over the body: A rare occurrence

    Directory of Open Access Journals (Sweden)

    Somenath Sarkar

    2014-01-01

    Full Text Available Cutis verticis gyrata is a rare skin condition characterized by swelling of scalp resembling the surface of the brain. Various conditions, like cerebriform intradermal nevus (CIN, may give rise to this clinical entity. Moreover, its association with cellular blue nevus is extremely rare and has not been reported so far. Here, we report a 28-year-old male with a huge cerebriform swelling covering the occipital lobe along with multiple nodules all over the body. Histology of the scalp swelling showed solitary or clusters of nevus cells in the dermis and from the body lesions showed features of cellular blue nevus. The diagnosis of CIN with cellular blue nevus was confirmed

  5. 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.

  6. 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.

  7. Linezolid-induced pure red cell aplasia in a patient with Staphylococcus epidermidis infection after allogeneic stem cell transplantation.

    Science.gov (United States)

    Waki, F; Ohnishi, H; Shintani, T; Uemura, M; Matsumoto, K; Fukumoto, T; Kitanaka, A; Kubota, Y; Tanaka, T; Ishida, T; Matsunaga, T

    2012-08-01

    Linezolid (LZD) is the first oxazolidinone antibiotic that is effective against drug-resistant gram-positive organisms. Hematological toxicities such as thrombocytopenia, anemia, and leukocytopenia are common in LZD therapy. However, LZD-induced pure red cell aplasia (PRCA) is very rare. A 56-year-old man with myelodysplastic syndrome underwent allogeneic bone marrow transplantation from a human leukocyte antigen-matched and ABO blood type-matched unrelated male donor. He had bacteremia caused by Staphylococcus epidermidis after engraftment of neutrophils and red blood cells. We first administered vancomycin, but then changed to intravenous LZD because of kidney damage. Two weeks after LZD therapy, the patient's hemoglobin and reticulocyte levels were 6.8 g/dL and 0.3%, respectively. Bone marrow examination revealed red blood cell aplasia (myeloid/erythroid ratio was 402). The patient showed rapid recovery of normal erythropoiesis within 2 weeks of LZD cessation. It is important to be aware of the hematological effects associated with LZD in the setting of stem cell transplantation,particularly for those with pre-existing myelosuppression, renal insufficiency, and those receiving concomitant drugs that produce bone marrow suppression. We advocate that a reticulocyte count be performed periodically for detecting bone marrow suppression, including PRCA, during LZD therapy.

  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. Structural Variations in Articular Cartilage Matrix Are Associated with Early-Onset Osteoarthritis in the Spondyloepiphyseal Dysplasia Congenita (Sedc Mouse

    Directory of Open Access Journals (Sweden)

    Robert E. Seegmiller

    2013-08-01

    Full Text Available Heterozgyous spondyloepiphyseal dysplasia congenita (sedc/+ mice expressing a missense mutation in col2a1 exhibit a normal skeletal morphology but early-onset osteoarthritis (OA. We have recently examined knee articular cartilage obtained from homozygous (sedc/sedc mice, which express a Stickler-like phenotype including dwarfism. We examined sedc/sedc mice at various levels to better understand the mechanistic process resulting in OA. Mutant sedc/sedc, and control (+/+ cartilages were compared at two, six and nine months of age. Tissues were fixed, decalcified, processed to paraffin sections, and stained with hematoxylin/eosin and safranin O/fast green. Samples were analyzed under the light microscope and the modified Mankin and OARSI scoring system was used to quantify the OA-like changes. Knees were stained with 1C10 antibody to detect the presence and distribution of type II collagen. Electron microscopy was used to study chondrocyte morphology and collagen fibril diameter. Compared with controls, mutant articular cartilage displayed decreased fibril diameter concomitant with increases in size of the pericellular space, Mankin and OARSI scores, cartilage thickness, chondrocyte clustering, proteoglycan staining and horizontal fissuring. In conclusion, homozygous sedc mice are subject to early-onset knee OA. We conclude that collagen in the mutant’s articular cartilage (both heterozygote and homozygote fails to provide the normal meshwork required for matrix integrity and overall cartilage stability.

  10. 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.

  11. Deferasirox treatment improved hematopoiesis and led to complete remission in a patient with pure red cell aplasia.

    Science.gov (United States)

    Kojima, Minoru; Machida, Shinichiro; Sato, Ai; Miyamoto, Mitsuki; Moriuchi, Makiko; Ohbayashi, Yoshiaki; Ando, Kiyoshi

    2013-12-01

    A 64-year-old woman developed pure red cell aplasia (PRCA) 4 years after thymectomy for thymoma. During anti-thymocyte globulin treatment, the patient developed cytomegalovirus pneumonia and was thus unable to continue immunosuppressive therapy and became transfusion dependent. Deferasirox was started for treatment with iron overload when serum ferritin increased to >1000 ng/mL. Seven months after initiation of deferasirox treatment, serum ferritin level decreased the normal range and the patient has remained transfusion independent thereafter. Deferasirox was discontinued when serum ferritin level decreased below 500 ng/mL, and she has maintained in complete remission over the last 15 months. Hypotheses have been raised regarding the improvement of hematopoiesis by deferasirox treatment, but the mechanism whereby this might be achieved remains unclear. Deferasirox treatment may be clinically beneficial both by reducing iron overload and by improving hematopoiesis in patients with PRCA.

  12. Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms

    Directory of Open Access Journals (Sweden)

    Insa Bultmann-Mellin

    2015-04-01

    Full Text Available Recent studies have revealed an important role for LTBP-4 in elastogenesis. Its mutational inactivation in humans causes autosomal recessive cutis laxa type 1C (ARCL1C, which is a severe disorder caused by defects of the elastic fiber network. Although the human gene involved in ARCL1C has been discovered based on similar elastic fiber abnormalities exhibited by mice lacking the short Ltbp-4 isoform (Ltbp4S−/−, the murine phenotype does not replicate ARCL1C. We therefore inactivated both Ltbp-4 isoforms in the mouse germline to model ARCL1C. Comparative analysis of Ltbp4S−/− and Ltbp4-null (Ltbp4−/− mice identified Ltbp-4L as an important factor for elastogenesis and postnatal survival, and showed that it has distinct tissue expression patterns and specific molecular functions. We identified fibulin-4 as a previously unknown interaction partner of both Ltbp-4 isoforms and demonstrated that at least Ltbp-4L expression is essential for incorporation of fibulin-4 into the extracellular matrix (ECM. Overall, our results contribute to the current understanding of elastogenesis and provide an animal model of ARCL1C.

  13. A case of amyloidosis cutis dyschromica%色素异常性皮肤淀粉样变性

    Institute of Scientific and Technical Information of China (English)

    张蕾; 孟慧敏; 李利

    2012-01-01

    A case of amyloidosis sutis dyschromica is reported. A 17-year-old male presented with a 2-year history of diffuse hyperpigmentation with hypopigmented spots over his whole body without any pain or itch. The lesions began on the trunk and spread gradually to the limbs and face. There were no family members with this similar disease. Skin biopsy from hyperpigmented lesion on the back revealed approximately normal epidermis, amyloid substances deposited in the papillary dermis and increased melanophage. The eosinophilic masses stained positively with Congo red. Amyloidosis cutis dyschromica was diagnosed.%报告1例色素异常性皮肤淀粉样变性.患者男,17岁.全身色素沉着伴有色素脱失斑2年,不痛不痒.色素沉着由躯干逐渐蔓延至四肢及面部.皮损组织病理检查:(色素增加处)表皮大致正常,真皮乳头处有淀粉样物质沉积及噬黑素细胞增多.刚果红染色:(色素脱失处)见真皮乳头处有粉红色的阳性物质沉积.诊断:色素异常性皮肤淀粉样变性.

  14. Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome associated with deletions in known DiGeorge or DiGeorge-like loci

    Directory of Open Access Journals (Sweden)

    Odent Sylvie

    2011-03-01

    Full Text Available Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. The uterovaginal aplasia is either isolated (type I or more frequently associated with other malformations (type II or Müllerian Renal Cervico-thoracic Somite (MURCS association, some of which belong to the malformation spectrum of DiGeorge phenotype (DGS. Its etiology remains poorly understood. Thus the phenotypic manifestations of MRKH and DGS overlap suggesting a possible genetic link. This would potentially have clinical consequences. Methods We searched DiGeorge critical chromosomal regions for chromosomal anomalies in a cohort of 57 subjects with uterovaginal aplasia (55 women and 2 aborted fetuses. For this candidate locus approach, we used a multiplex ligation-dependent probe amplification (MLPA assay based on a kit designed for investigation of the chromosomal regions known to be involved in DGS. The deletions detected were validated by Duplex PCR/liquid chromatography (DP/LC and/or array-CGH analysis. Results We found deletions in four probands within the four chromosomal loci 4q34-qter, 8p23.1, 10p14 and 22q11.2 implicated in almost all cases of DGS syndrome. Conclusion Uterovaginal aplasia appears to be an additional feature of the broad spectrum of the DGS phenotype. The DiGeorge critical chromosomal regions may be candidate loci for a subset of MRKH syndrome (MURCS association individuals. However, the genes mapping at the sites of these deletions involved in uterovaginal anomalies remain to be determined. These findings have consequences for clinical investigations, the care of patients and their relatives, and genetic counseling.

  15. Catalytic evaluation on liquid phase oxidation of vanillyl alcohol using air and H2O2 over mesoporous Cu-Ti composite oxide

    Science.gov (United States)

    Saha, Subrata; Hamid, Sharifah Bee Abd; Ali, Tammar Hussein

    2017-02-01

    A mesoporous, highly crystalline Cu-Ti composite oxide catalyst was prepared via facile, simple and modified solution method varying Cu and Ti ratio for selective liquid phase oxidation of vanillyl alcohol. Various spectroscopic procedures were employed to systematically characterize the catalyst structural and physicochemical properties. The defect chemistry of the catalyst was confirmed from the presence of surface defects revealed through HRTEM imagery between the TiO2 (101) and Cu3TiO4 (012) planes, complemented by the XRD profiling. Further, presence of oxygen vacancy evidenced by O 1s XPS spectra were observed on the catalyst surface. Moreover, the stoichiometry of Cu and Ti in the catalyst synthesis protocol was notably found to be the vital determinant to alter the redox properties of Cu-Ti composite oxide catalyst supported by H2-TPR. O2-TPD analysis. Moreover, a rational investigation was done using different oxidants such as air and H2O2 with variables reaction conditions. The catalyst was active for liquid phase oxidation of vanillyl alcohol to vanillin with performance of 66% conversion and 71% selectivity using H2O2 in base free condition. And also, catalytic activity was significantly improved by 94% conversion with 86% selectivity to vanillin in liquid phase aerobic oxidation at the optimum reaction conditions. To expand the superiority of the catalyst, three times reusability study was also examined with appreciable catalytic activity.

  16. Pure red cell aplasia accompanied by autoimmune hemolytic anemia in a patient with type A viral hepatitis.

    Science.gov (United States)

    Koiso, Hiromi; Kobayashi, Satsuki; Ueki, Kazue; Hamada, Tetsuya; Tsukamoto, Norifumi; Karasawa, Masamitsu; Murakami, Hirokazu; Nojima, Yoshihisa

    2009-05-01

    A rare case of acute hepatitis A associated with autoimmune hemolytic anemia (AIHA) and pure red cell aplasia (PRCA) is reported. A 55-year-old woman consulted a doctor because of common cold-like symptoms and she was referred to our hospital in January 2007. Laboratory findings showed a marked elevation of serum transaminase and total bilirubin levels (AST 9,605 IU/l, ALT 5,546 IU/l and T-bil 4.14 mg/dl), and prolonged prothrombin time, findings which suggested the risk of progression to fulminant hepatitis, and she was treated with plasmapheresis and hemodialysis filtration on the first and second hospital days. She was diagnosed with severe acute hepatitis A based on the elevation of serum IgM anti-hepatitis A virus. On the 20th hospital day, her hemoglobin level began to decrease in spite of improving transaminase levels without any signs of gastrointestinal bleeding. Bilirubin and LDH elevation, haptoglobin decline and a positive direct Coombs test were detected and these findings indicated AIHA complication; however, the reticulocyte count decreased and bone marrow showed marked erythroid hypoplasia so the co-existence of PRCA was diagnosed. After oral prednisolone administration (1 mg/kg/day), her hemolytic anemia rapidly improved.

  17. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

    DEFF Research Database (Denmark)

    Sun, C; Van Ghelue, M; Tranebjaerg, L;

    2010-01-01

    Sun C, Van Ghelue M, Tranebjaerg L, Thyssen F, Nilssen Ø, Torbergsen T. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Myotonia is characterized by hyperexcitability of the muscle cell membrane. Myotonic disorders...... channel genes SCN4A and CLCN1, the myotonic dystrophy protein kinase (DMPK) gene, and the CCHC-type zinc finger, nucleic acid binding protein gene CNBP. Additional gene(s) and/or modifying factor(s) remain to be identified. In this study, we investigated a large Norwegian family with clinically different...... presentations of myotonic disorders. Molecular analysis revealed CCTG repeat expansions in the CNBP gene in all affected members, confirming that they have myotonic dystrophy type 2. However, a CLCN1 mutation c.1238C>G, causing p.Phe413Cys, was also identified in several affected family members. Heterozygosity...

  18. Myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature.

    Science.gov (United States)

    Poungvarin, N; Viriyavejakul, A

    1991-03-01

    The first report of the rare combination of myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism was reported. The patient was a 21-year-old man who presented with stiffness of the muscles for 12 years and a history of generalised convulsion for 8 years. His school studies declined gradually and his secondary schooling was interrupted. Examination revealed a muscular young man with myotonic percussion over the muscles of the body as well as the myotonic lid lag. Chvostek's sign was positive and his serum calcium level was very low whereas the serum phosphate was high. Symmetrical and extensive calcification of the brain parenchyma was demonstrated in the CT scan. His secondary sexual characteristics were not well developed and his testes were very small. Chromosome study confirmed the diagnosis of Klinefelter syndrome by the identification of 47 XXY chromosome. He was prescribed calcium replacement and the anticonvulsant was withheld with no more episodes of seizure.

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

    Directory of Open Access Journals (Sweden)

    Carlos Augusto Alencar Júnior

    1998-09-01

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

  20. Alteration of hedgehog signaling by chronic exposure to different pesticide formulations and unveiling the regenerative potential of recombinant sonic hedgehog in mouse model of bone marrow aplasia.

    Science.gov (United States)

    Chaklader, Malay; Law, Sujata

    2015-03-01

    Chronic pesticide exposure-induced downregulation of hedgehog signaling and its subsequent degenerative effects on the mammalian hematopoietic system have not been investigated yet. However a number of concurrent studies have pointed out the positive correlation between chronic pesticide exposure induced bone marrow failure and immune suppression. Here, we have given an emphasis on the recapitulation of human marrow aplasia like condition in mice by chronic mixed pesticide exposures and simultaneously unravel the role of individual pesticides in the said event. Unlike the effect of mixed pesticide, individual pesticides differentially alter the hedgehog signaling in the bone marrow primitive hematopoietic compartment (Sca1 + compartment) and stromal compartment. Individually, hexaconazole disrupted hematopoietic as well as stromal hedgehog signaling activation through inhibiting SMO and facilitating PKC δ expression. On contrary, both chlorpyriphos and cypermethrin increased the sequestration and degradation of GLI1 by upregulating SU(FU) and βTrCP, respectively. However, cypermethrin-mediated inhibition of hedgehog signaling has partly shown to be circumvented by non-canonical activation of GLI1. Finally, we have tested the regenerative response of sonic hedgehog and shown that in vitro supplemented recombinant SHH protein augmented clonogenic stromal progenitors (CFU-F) as well as primitive multipotent hematopoietic clones including CFU-GEMM and CFU-GM of mixed pesticide-induced aplastic marrow. It is an indication of the marrow regeneration. Finally, our findings provide a gripping evidence that downregulated hedgehog signaling contribute to pesticide-mediated bone marrow aplasia but it could be recovered by proper supplementation of recombinant SHH along with hematopoietic base cocktail. Furthermore, SU(FU) and GLI1 can be exploited as future theradiagnostic markers for early marrow aplasia diagnosis.

  1. Pure red cell aplasia caused by pegylated interferon-α-2a plus ribavirin in the treatment of chronic hepatitis C

    Institute of Scientific and Technical Information of China (English)

    Cheng-Shyong Chang; Sheng-Lei Yan; Hsuan-Yu Lin; Fu-Lien Yu; Chien-Yu Tsai

    2011-01-01

    Pure red cell aplasia (PRCA) is a rare hematological disorder which is characterized by severe anemia, reticulocytopenia and almost complete absence of erythroid precursors in bone marrow. The pathophysiology of PRCA may be congenital or acquired. To our knowledge, there is only one case report in the English literature of PRCA after pegylated interferon combination therapy for chronic hepatitis C. We report a second case of PRCA after pegylated interferon combination treatment for chronic hepatitis C. The diagnosis of PRCA was confirmed by the typical findings of bone marrow biopsy. The possible etiologies of our case are also discussed in this paper.

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

    Science.gov (United States)

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

    2016-01-01

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

  3. Elastólise pós-inflamatória e cutis laxa (doença de James Marshall): estudo de casos

    OpenAIRE

    2007-01-01

    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...

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

    Science.gov (United States)

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

    2016-04-01

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

  5. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

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

  6. 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

    The solid copper(I) electrolytes: CuTi2(PO4)3; CuTiZr(PO4)3; and CuZr2(PO4)3; were prepared as powders by high temperature synthesis and analysed by powder XRD. These materials were then annealed in air at 400 °C for 72 h. The results of powder XRD showed that the degree of oxidation under these ...

  7. Insight into the mechanism of selective catalytic reduction of NO(x) by propene over the Cu/Ti(0.7)Zr(0.3)O2 catalyst by Fourier transform infrared spectroscopy and density functional theory calculations.

    Science.gov (United States)

    Liu, Jie; Li, Xinyong; Zhao, Qidong; Hao, Ce; Zhang, Dongke

    2013-05-07

    The mechanism of selective catalytic reduction of NOx by propene (C3H6-SCR) over the Cu/Ti0.7Zr0.3O2 catalyst was studied by in situ Fourier transform infrared (FTIR) spectroscopy and density functional theory (DFT) calculations. Especially, the formation and transformation of cyanide (-CN species) during the reaction was discussed. According to FTIR results, the excellent performance of the Cu/Ti0.7Zr0.3O2 catalyst in C3H6-SCR was attributed to the coexistence of two parallel pathways to produce N2 by the isocyanate (-NCO species) and -CN species intermediates. Besides the hydrolysis of the -NCO species, the reaction between the -CN species and nitrates and/or NO2 was also a crucial pathway for the NO reduction. On the basis of the DFT calculations on the energy of possible intermediates and transition states at the B3LYP/6-311 G (d, p) level of theory, the reaction channel of -CN species in the SCR reaction was identified and the role of -CN species as a crucial intermediate to generate N2 was also confirmed from the thermodynamics view. In combination of the FTIR and DFT results, a modified mechanism with two parallel pathways to produce N2 by the reaction of -NCO and -CN species over the Cu/Ti0.7Zr0.3O2 catalyst was proposed.

  8. 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).

  9. Late onset of autoimmune hemolytic anemia and pure red cell aplasia after allogeneic hematopoietic stem cell transplantation using in vivo alemtuzumab.

    Science.gov (United States)

    Kako, Shinichi; Kanda, Yoshinobu; Oshima, Kumi; Nishimoto, Nahoko; Sato, Hiroyuki; Watanabe, Takuro; Hosoya, Noriko; Motokura, Toru; Miyakoshi, Shigesaburo; Taniguchi, Shuichi; Kamijo, Aki; Takahashi, Koki; Chiba, Shigeru; Kurokawa, Mineo

    2008-03-01

    Hemolytic anemia and pure red cell aplasia (PRCA) after allogeneic hematopoietic stem cell transplantation (HSCT) have been reported to be mainly related to ABO-incompatibility between donor and recipient. Autoimmune hemolytic anemia (AIHA) without ABO-incompatibility has been also reported after allogeneic HSCT, especially with T-cell depletion. However, optimal management of AIHA or PRCA remains unclear. A 54-year-old male with myelodysplastic syndrome (MDS) underwent haploidentical human leukocyte antigen-mismatched HSCT using in vivo alemtuzumab and developed AIHA and PRCA simultaneously 15 months after transplantation, following the administration of cidofovir and probenecid for persistent cytomegalovirus (CMV) antigenemia and retinitis. AIHA was successfully treated with rituximab, and subsequently PRCA with cyclosporine without relapse of MDS or recurrence of CMV infection. The clinical course suggested that AIHA was mainly caused by humoral immune response, while PRCA was mainly caused by cell-mediated immune response in this patient, although these immune responses might be related to each other.

  10. Primary Sjögren syndrome presenting with hemolytic anemia and pure red cell aplasia following delivery due to Coombs-negative autoimmune hemolytic anemia and hemophagocytosis.

    Science.gov (United States)

    Komaru, Yohei; Higuchi, Takakazu; Koyamada, Ryosuke; Haji, Youichiro; Okada, Masato; Kamesaki, Toyomi; Okada, Sadamu

    2013-01-01

    A 36-year-old woman presented with hemolytic anemia without a reticulocyte response 38 days after delivery. A marked reduction in erythroid cells and an increase in macrophages with active hemophagocytosis were noted in the bone marrow. While conventional Coombs' tests were negative, the level of red blood cell (RBC)-bound immunoglobulin G (IgG) was increased. The patient was diagnosed with primary Sjögren syndrome (pSS) based on her symptoms, positive anti-SS-A antibodies, Coombs-negative autoimmune hemolytic anemia and pure red cell aplasia associated with RBC-bound IgG and hemophagocytosis. The unique presentation was considered to be a consequence of immunological derangement associated with pSS, pregnancy and delivery.

  11. 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.

  12. Clinical efficacy and safety of recombinant canine erythropoietin in dogs with anemia of chronic renal failure and dogs with recombinant human erythropoietin-induced red cell aplasia.

    Science.gov (United States)

    Randolph, John E; Scarlett, Janet; Stokol, Tracy; MacLeod, James N

    2004-01-01

    The efficacy and safety of recombinant canine erythropoietin (rcEPO) therapy was evaluated in 19 dogs with anemia of chronic renal failure (group 1) and 6 dogs with chronic renal failure and recombinant human erythropoietin (rhEPO)-induced red cell aplasia (group 2). Hematocrit (Hct) and absolute reticulocyte count (ARC) were monitored weekly for the first 8 weeks, CBC (including ARC) and serum iron profiles were evaluated monthly, and serum biochemical analyses were performed every 2 months for 6 (group 2) to 12 (group 1) months. For group 1 dogs, median Hct and ARC increased significantly during the 1st week of rcEPO treatment, and median Hct was sustained at >35% after week 5. In contrast, median Hct and ARC for group 2 did not change significantly with rcEPO treatment, even with doses greater than those used in group 1. Nevertheless, 2 (33%) of the 6 dogs in group 2 developed erythroid hyperplasia, reticulocytosis, and increases in Hct with rcEPO treatment. Although median systolic blood pressure did not change significantly in either group, 5 dogs developed systolic blood pressures > or = 180 mm Hg during the study. Appetite and energy level improved in most group 1 dogs with increases in Hct. Recombinant cEPO stimulated erythrocyte production in dogs with nonregenerative anemia secondary to chronic renal failure without causing the profound erythroid hypoplasia that can occur in rhEPO-treated dogs. Unfortunately, rcEPO was not as effective in restoring erythrocyte production in dogs that had previously developed rhEPO-induced red cell aplasia.

  13. 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.

  14. 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

  15. 臀部疣状皮肤结核误诊1例%A Case of Misdiagnosed Buttock Tuberculosis Verrucosa Cutis

    Institute of Scientific and Technical Information of China (English)

    黄俊萍; 刘涛

    2012-01-01

    患儿女,10岁,右臀部环状斑块8余年,曾多次误诊为股癣.皮损组织病理示:表皮角化不全,毛囊角栓,表皮假上皮瘤样增生;真皮浅中层弥漫炎细胞浸润,以淋巴细胞为主;真皮内可见上皮样细胞结节,浸润的细胞有淋巴细胞、多核巨细胞及组织细胞等.抗酸染色(-),PPD试验(3+).诊断:疣状皮肤结核.%A 10-year-old girl with right hip circular plaque more than 8 years was misdiagnosed as tinea cruris many times. Pathology results showed epidermis parakeratosis, folliculus pili keratotic plug, epidermis pseudoepi-thcliomatous hyperplasia. Intermediate dermis diffused inflammatory cells most of which were lymphocytes. Epithelioid cells nodules can he seen in dermis. Infiltration cells were lymphocytes, multinuclear giant cells and histiocytes. Acid-fast stain( - ) ,PPD test(3 + ). Diagnosis; tuberculosis verrucosa cutis.

  16. A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

    Science.gov (United States)

    Bouhours, Magali; Luce, Sandrine; Sternberg, Damien; Willer, Jean Claude; Fontaine, Bertrand; Tabti, Nacira

    2005-06-01

    Missense mutations in the human skeletal muscle Na+ channel alpha subunit (hSkM1) are responsible for a number of muscle excitability disorders. Among them, paramyotonia congenita (PC) is characterized by episodes of muscle stiffness induced by cold and aggravated by exercise. We have identified a new PC-associated mutation, which substitutes aspartic acid for a conserved alanine in the S4-S5 linker of domain III (A1152D). This residue is of particular interest since its homologue in the rat brain type II Na+ channel has been suggested as an essential receptor site for the fast inactivation particle. To identify the biophysical changes induced by the A1152D mutation, we stably expressed hSkM1 mutant or wild-type (WT) channels in HEK293 (human embryonic kidney) cells, and recorded whole-cell Na+ currents with the patch-clamp technique. Experiments were performed both at 21 and 11 degrees C to better understand the sensitivity to cold of paramyotonia. The A1152D mutation disrupted channel fast inactivation. In comparison to the WT, mutant channels inactivated with slower kinetics and displayed a 5 mV depolarizing shift in the voltage dependence of the steady-state. The other noticeable defect of A1152D mutant channels was an accelerated rate of deactivation from the inactivated state. Decreasing temperature by 10 degrees C amplified the differences in channel gating kinetics between mutant and WT, and unveiled differences in both the sustained current and channel deactivation from the open state. Overall, cold-exacerbated mutant defects may result in a sufficient excess of Na+ influx to produce repetitive firing and myotonia. In the light of previous reports, our data point to functional as well as phenotypic differences between mutations of conserved S4-S5 residues in domains II and III of the human skeletal muscle Na+ channel.

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

    Science.gov (United States)

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

    2013-05-02

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

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

    Directory of Open Access Journals (Sweden)

    Sílvia Pimenta de Carvalho

    2003-10-01

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

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    Muhammad SAEED*

    2014-12-01

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

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    Bai-Wei Gu

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

  3. Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).

    Science.gov (United States)

    Dill, Patricia; Schneider, Jacques; Weber, Peter; Trachsel, Daniel; Tekin, Mustafa; Jakobs, Cornelis; Thöny, Beat; Blau, Nenad

    2011-11-01

    We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome). Both conditions are exceptionally rare autosomal recessive inherited diseases mapped to 11q13. Our patient was found to have novel homozygous nonsense mutations in the FOLR1 gene (p.R204X), and FGF3 gene (p.C50X). While the FRα defect is a disorder of brain-specific folate transport accompanied with cerebral folate deficiency (CFD) causing progressive neurological symptoms, LAMM syndrome is a solely malformative condition, with normal physical growth and cognitive development. Our patient presented with congenital deafness, hypotonia, dysphygia and ataxia in early childhood. At the age of 6 years he developed intractable epilepsy, and deteriorated clinically with respiratory arrest and severe hypercapnea at the age of 8 years. In contrast to the previously published patients with a FOLR1 gene defect, our patient presented with an abnormal l-dopa metabolism in CSF and high 3-O-methyl-dopa. Upon oral treatment with folinic acid the boy regained consciousness while the epilepsy could be successfully managed only with additional pyridoxal 5'-phosphate (PLP). This report pinpoints the importance of CSF folate investigations in children with unexplained progressive neurological presentations, even if a malformative syndrome is obviously present, and suggests a trial with PLP in folinic acid-unresponsive seizures.

  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

    Directory of Open Access Journals (Sweden)

    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. 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

  6. Rechallenge with intravenous recombinant human erythropoietin can be successful following the treatment of anti-recombinant erythropoietin associated pure red cell aplasia.

    Science.gov (United States)

    Praditpornsilpa, Kearkiat; Tiranathanakul, Khajohn; Jootar, Saengsuree; Tungsanga, Kriang; Eiam-Ong, Somchai

    2014-05-01

    Anti recombinant human erythropoietin (r-HuEpo) associated pure red cell aplasia (PRCA) is an immunologic adverse effect of using subcutaneous r-HuEpo. Immunosuppressive agents have been suggested as treatment of this serious complication. After the reversal of anti-r-HuEpo antibody, the patients continue to have renal anemia and require long-term blood transfusion, albeit less frequently than when the antibody is positive. It is controversial whether re-challenging the patients with r-HuEpo is appropriate because re-challenging may cause the reappearance of the antibody. To balance the risk of antir-HuEpo antibody reappearance and longterm blood transfusion complications, we re-challenged r-HuEpo in five anti-r-HuEpo associated PRCA cases after a successful reversal of antibody using prednisolone in combination with cyclophosphamide. The rechallenge was performed intravenously since there were no reports of anti-r-HuEpo associated PRCA cases using this administration route. The duration after the reversal of antibody was 2.4 months before the re-challenge. Two patients were immediately re-challenged as soon as the antibodies reversed. After rechallenge with intravenous r-HuEpo, all patients responded to r-HuEpo: target level of Hb was maintained, blood transfusion was not required, and anti-r-HuEpo was consistently negative. All patients were followed for at least 6 months after re-challenge. Our data suggest that re-challenge with intravenous r-HuEpo can successfully treat anti- r-HuEpo associated PRCA.

  7. Very Long Segment Congenital Thoracoabdominal Aortic Coarctation (Diffuse Aortic Dysplasia) with Infrarenal Aortobi-Iliac and Cavobi-Iliac Aplasia in a 30-Year-Old Patient.

    Science.gov (United States)

    Mamopoulos, Apostolos; Luther, Bernd

    2015-10-01

    Congenital dysplastic aortic syndromes range from coarctation at the aortic isthmus to more extended aortic disease (midaortic syndrome). The latter is usually restricted to dysplastic aortic segments of up to 15 cm. Long segment dysplasia of the entire abdominal or thoracic aorta is extremely rare. This case of a 30-year-old patient with a very long segment congenital thoracoabdominal aortic coarctation and infrarenal aortobi-iliac and cavobi-iliac aplasia represents to our knowledge the most extended congenital vascular malformation in a surviving adult patient. The developed extensive collateral pathways ensured the survival of the patient, so that the main clinical manifestation was a refractory hypertension. Because of the extent of the disease, open surgery represented the only viable option. Interestingly, after 30 years of uncontrollable hypertension, the patient's blood pressure promptly responded to surgical treatment. A concomitant infrarenal aplasia of both the aorta and cava vein is also very unusual and points to a major developmental deficit during vascular embryogenesis.

  8. Cutaneous tuberculosis, tuberculosis verrucosa cutis

    Directory of Open Access Journals (Sweden)

    Nilamani Mohanty

    2014-01-01

    Full Text Available Cutaneous tuberculosis because of its variability in presentation, wider differential diagnosis, and difficulty in obtaining microbiological confirmation continues to be the most challenging to diagnose for dermatologists in developing countries. Despite the evolution of sophisticated techniques such as polymerase chain reaction (PCR and enzyme-linked-immunosorbent serologic assay (ELISA, the sensitivity of new methods are not better than the isolation of Mycobacterium tuberculosum in culture. Even in the 21 st century, we rely on methods as old as the intradermal reaction purified protein derivative standard test and therapeutic trials, as diagnostic tools. We describe a case which has been diagnosed and treated as eczema by renowned physicians for 2 years. Incisional biopsy showed the presence of well-defined granulomas and ZN staining of the biopsy specimen showed the presence of acid fast bacilli; a trial of ATT (antitubercular therapy for 6 months lead to permanent cure of the lesion.

  9. Genetics Home Reference: cutis laxa

    Science.gov (United States)

    ... this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs ... copper levels in the body . In addition to sagging and inelastic skin, occipital horn syndrome is characterized ...

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

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    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.

  12. 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.

  13. DAX-1基因突变致先天性肾上腺发育不良伴低促性腺激素性性腺功能减退的诊疗进展%Progress in diagnosis and treatment of adrenal hypoplasia congenita with hypogonadotropic hypogonadism caused by DAX-1 gene mutation

    Institute of Scientific and Technical Information of China (English)

    袁进磊; 张会娟; 王延年

    2016-01-01

    [Summary] With the improvement of current medical diagnosis and treatment technology, more and more patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism have been diagnosed. DAX-1 gene mutation has been accounted for one of the most important reasons. Clinical manifestations include adrenocortical hypofunction such as loss of salt, dehydration, nausea and vomiting, as well as gonad dysplasia of male patients in puberty. The disease can be diagnosed by blood biochemical and hormonal level testings, imaging tests and gene sequencing. Patients can be treated by glucocorticoid, mineralocorticoid, and male sex hormone. The review will expand the diagnosis and treatment of adrenal hypoplasia congenita with hypogonadotropic hypogonadism caused by DAX-1 gene mutation.%随着当前医学诊疗技术的提高,越来越多的肾上腺发育不良伴低促性腺激素性性腺功能减退患者被查明病因,其中DAX-1( dosage-sensitive sex-reversal, Adrenal hypoplasia congenita, on the X-chromo-some, gene 1)基因突变是最重要的病因之一。患者常出现失盐、脱水、恶心、呕吐、男性性腺发育异常等肾上腺功能减退症状,该病能通过血生化和激素水平检测、影像学及基因测序进行诊断,予以糖皮质激素、盐皮质激素和男性性激素治疗。本文将对DAX-1基因突变所致的先天性肾上腺发育不良伴低促性腺激素性性腺功能减退的诊断、治疗作一系统的综述。

  14. Calcinose cútis distrófica universal associada a lúpus eritematoso sistêmico: um caso exuberante Calcinosis cutis universalis associated with systemic lupus erythematosus: an exuberant case

    Directory of Open Access Journals (Sweden)

    Ana Paula Gonçalves Carocha

    2010-12-01

    Full Text Available Calcinose cutânea é uma doença incomum, de fisiopatologia incerta e, muitas vezes, incapacitante. Caracteriza-se pela deposição de sais de cálcio na pele ou tecido subcutâneo. É classificada em quatro subtipos: metastática, distrófica, idiopática e iatrogênica. Pode ser vista em várias doenças sistêmicas como hiperparatireoidismo e hipervitaminose D, ocorrendo com maior frequência na dermatomiosite, esclerodermia e síndromes overlap, sendo uma complicação infrequente no lúpus eritematoso sistêmico. O manejo das complicações secundárias, assim como o sucesso terapêutico, constituem desafios constantes no seguimento destes casos.Calcinosis cutis is an uncommon disease of unclear pathophysiology that is often disabling. It is characterized by the formation of calcium deposits in the skin or subcutaneous tissue. It is classified into four subtypes: dystrophic, metastatic, idiopathic or iatrogenic. It may be seen in a variety of systemic diseases such as hyperparathyroidism and hypervitaminosis D, but is most commonly found in dermatomyositis, scleroderma and overlap syndromes and is a rare complication of systemic lupus erythematosus. The management of secondary complications and the success of therapy are constant challenges in the follow-up of these cases.

  15. 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.

  16. 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.

  17. 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.

  18. B lymphocyte differentiation in lethally irradiated and reconstituted mice. I. The effect of strontium-89 induced bone marrow aplasia on the recovery of the B cell compartment in the spleen

    Energy Technology Data Exchange (ETDEWEB)

    Rozing, J.; Buurman, W.A.; Benner, R.

    1976-06-01

    The influence of /sup 89/Sr-treatment on the recovery of the B cell compartment in lethally irradiated, fetal liver reconstituted mice was studied by means of membrane fluorescence, /sup 89/Sr is a bone-seeking radio-isotope which causes in a dose of 3 ..mu..Ci /sup 89/Sr/g body weight a depletion of all nucleated cells, including immunoglobulin-bearing (B) cells, of the bone marrow. Treatment of irradiated and fetal liver reconstituted mice with 3 ..mu..Ci /sup 89/Sr/g body weight immediately and at 17 days after irradiation and reconstitution prevented recovery of the nucleated cell population, including B cells, in the bone marrow. In the spleen of such mice both nucleated cells and B cells reappeared at day 7 and 14 respectively. The B cell population in the spleen did not recover up to normal values during the experimental period of 45 days. It is concluded that B cell differentiation in lethally irradiated, fetal liver reconstituted mice can take place outside the bone marrow. The efficiency of this extra-medullary differentiation is discussed. The conclusion was drawn that mice with a /sup 89/Sr-induced bone marrow aplasia are able to generate B lymphocytes. Consequently the bone marrow microenvironment seems not to be obligate to the differentiation of B lymphocytes. The peripheral lymphoid organs of such mice were found to be unable to compensate completely for the absence of B lymphocyte production in the bone marrow.

  19. A case of recurrent autoimmune hemolytic anemia during remission associated with acute pure red cell aplasia and hemophagocytic syndrome due to human parvovirus B19 infection successfully treated by steroid pulse therapy with a review of the literature.

    Science.gov (United States)

    Sekiguchi, Yasunobu; Shimada, Asami; Imai, Hidenori; Wakabayashi, Mutsumi; Sugimoto, Keiji; Nakamura, Noriko; Sawada, Tomohiro; Komatsu, Norio; Noguchi, Masaaki

    2014-01-01

    The patient was a 47-year-old man diagnosed as having autoimmune hemolytic anemia (AIHA) in April 2011. He also had a congenital chromosomal abnormality, a balanced translocation. Treatment with prednisolone (PSL) 60 mg/day resulted in resolution of the AIHA, and the treatment was completed in November 2011. While the patient no longer had anemia, the direct and indirect Coombs tests remained positive. In May 2013, he developed recurrent AIHA associated with acute pure red cell aplasia (PRCA) and hemophagocytic syndrome (HPS) caused by human parvovirus B19 (HPV B19) infection. Tests for anti-erythropoietin and anti-erythropoietin receptor antibodies were positive. Steroid pulse therapy resulted in resolution of the AIHA, PRCA, as well as HPS. The serum test for anti-erythropoietin antibodies also became negative after the treatment. However, although the serum was positive for anti-HPV B19 IgG antibodies, the patient continued to have a low CD4 lymphocyte count (CD4, <300/μL) and persistent HPV B19 infection (HPV B19 DNA remained positive), suggesting the risk of recurrence and bone marrow failure.

  20. 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

  1. Clinical Transcriptomics in Systemic Vasculitis (CUTIS)

    Science.gov (United States)

    2016-12-22

    Cryoglobulinemic Vasculitis (CV); Drug-induced Vasculitis; Eosinophilic Granulomatosis With Polyangiitis (EGPA); IgA Vasculitis; Isolated Cutaneous Vasculitis; Granulomatosis With Polyangiitis (GPA); Microscopic Polyangiitis (MPA); Polyarteritis Nodosa (PAN); Urticarial Vasculitis; Vasculitis

  2. 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.

  3. Calcinosis Cutis Long after Rhinoplasty with Silicone

    Directory of Open Access Journals (Sweden)

    Yuki Honda

    2014-12-01

    Full Text Available Rhinoplasty is a plastic surgery procedure to reconstruct the nose. Silicone alloplastic materials are most widely used as implants for rhinoplasty, but calcification on the surface occurs with long-term usage. Herein, we report a case of gruel-like calcification approximately 50 years after silicone implant rhinoplasty. In this case, calcification on the silicone surface might have transformed into gruel-like deposits, which presented as a subcutaneous mass at the dorsal area of the nose. The precise mechanism is unclear; a pH change in the tissue might have occurred during the process of inflammation, leading to the dissolution of calcified deposits.

  4. 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

  5. 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

  6. Featares of T-cell large granular lymphocytic leukemia with pure red cell aplasia%T大颗粒淋巴细胞白血病伴纯红细胞再生障碍特征与治疗

    Institute of Scientific and Technical Information of China (English)

    王建宁; 傅行财; 孟庆奇; 宋敏; 候艳秋; 张柳波; 包红雨

    2013-01-01

    Objective:To explore the clinical features and treatment of T-cell large granular lymphocytic leukemia(T-LGLL) associated with pure red cell aplasia(PRCA).Methods:Two cases of T-LGLL with PRCA were reported and the related articles were reviewed.Results:Two elder female patients had indolent process,mainly presenting with anemia.Clinic examination showed no lymphadenopathy and hepatosplenomegaly.The patients had no recurrent infections and rheumatoid arthritis.Peripheral blood smear showed predominance of mature lymphocytic cells,with most showing characteristic large granular lymphocytic morphology.Flowcytometric immunophenotypic analyses were done and peripheral lymphocytes showed abnormal immunophenotypes which were compatible with T-LGLL.Clonality could be proven on detecting gene rearrangement of T-cell recepter γchain.Bone marrow aspirate smears showed markedly decreased erythroid series.Conclusion:T-LGLL is a rare disease.The clinic characteristics of Asian patients were markedly different from Western patients.Especially,Asian patients had more anemia attributing to a high incidence of PRCA.The findings suggested that T-LGLL with PRCA may be prognostic of a good response to immunosuppression.%目的:探讨T-大颗粒淋巴细胞白血病(T-LGLL)伴纯红细胞再生障碍(PRCA)的临床特征与治疗.方法:报告2例T-LGLL合并PRCA并结合文献进行复习.结果:患者为老年女性,临床进展缓慢,主要表现为贫血,无淋巴结和肝脾肿大,无反复感染和类风湿性关节炎表现,血涂片以大颗粒淋巴细胞为主,免疫分型符合T-LGLL,TCRγ基因重排阳性,骨髓红系细胞明显减少.结论:T-LGLL为少见疾病,亚洲患者临床特征与西方患者有明显差异,尤其是合并PRCA的发生率高,对免疫抑制剂治疗反应良好.

  7. Avaliação hematológica dos pacientes diagnosticados com aplasia medular do ambulatório de hematologia e hemoterapia do Conjunto Hospitalar de Sorocaba (CHS

    Directory of Open Access Journals (Sweden)

    Ivan Fernandes Filho

    2014-10-01

    Full Text Available Introdução: Aplasia Medular (AM é um distúrbio de produção de células hematopoiéticas decorrentes da perda de tecido medular caracterizado clinicamente por astenia, petéquias, dispneia, equimoses, cefaleia e hemorragias. Objetivos: avaliar os prontuários dos pacientes com AM através da investigação do perfil clínico de cada paciente, as possíveis etiologias da doença, tratamentos realizados e sua evolução. Métodos: analisamos os prontuários de 11 pacientes diagnosticados com AM no momento do diagnóstico e da última consulta, recolhendo informações quanto à etiologia, aos achados laboratoriais e à evolução dos pacientes em cada tratamento. Resultados: A proporção entre homens e mulheres era 63/77. A idade média foi de 31,36 anos. Houve VCM (Máximo=122,64 fL; Mínimo=80,5 fL, Ht (Máximo=31%; Mínimo=6%, leucócitos (Máximo= 7640/μL; Mínimo=800/μL, segmentados (Máximo=3590/μL; Mínimo=161/μL, média de 72401,8 plaquetas/mm3 e mediana de 16000 plaquetas /mm3. 45% dos pacientes foram submetidos ao transplante de medula óssea, sendo que todos se encontram, no momento, vivos e sem a doença. No tratamento com ciclosporina A 300mg+Prednisona 80mg (20% dos pacientes, 50% dos pacientes estão vivos e sem a doença. Conclusão: As etiologias e classificação da doença mostraram que a maioria dos pacientes apresentou AM idiopática em sua forma grave com evolução hematológica satisfatória durante o tratamento.

  8. 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.

  9. 新生儿皮肤再生不良二例

    Institute of Scientific and Technical Information of China (English)

    王丹; 钱燕

    2009-01-01

    新生儿皮肤再生不良(aplasia cutis congential,ACC)是一种罕见的先天性皮肤局限或广泛缺损性疾病,以一定部位的皮肤缺损为特征,可伴有其他发育异常,现报道2例新生儿ACC。

  10. 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

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    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

  11. 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.

  12. Enfermedad de Chagas-Mazza congenita en Salta

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    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.

  13. 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.

  14. Leiomyoma cutis: A clinicopathological series of 37 cases

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    Malhotra Purnima

    2010-01-01

    Full Text Available Background: Cutaneous leiomyomas are benign smooth muscle tumors that comprise three distinct types such as piloleimyoma, angioleiomyoma, and genital leiomyoma. Aim: The objective of this study was to report a series of cases seen in last 8 years in a tertiary care hospital in north India and to discuss their clinicopathologic findings. Material and Methods: Paraffin-embedded blocks of cases reported as cutaneous leiomyoma from 1999 to 2007 were retrieved from the Institute of Pathology, New Delhi, and their clinical parameters were noted. Their histopathological features were reviewed on hematoxylin-eosin stained slides. Immunohistochemistry was performed where necessary. Results: Twenty-seven cases of piloleiomyoma, three cases of angioleiomyoma, five breast leiomyomas, and two scrotal leiomyomas were seen in patients ranging from 21 to 65 years of age, with an average of 38.2 years at presentation. There was a male predominance with 26 males and 11 females (M:F = 2.2:1. Solitary lesions (n = 21 were more common than multiple ( n = 16. The trunk and upper limbs were involved most commonly, comprising 23 of 37 (62.2% cases. This was followed by lower limb, face, breast, and scrotum. Conclusion: Cutaneous leiomyomas are rare lesions and form an important clinical differential diagnosis of painful papulonodules. These must be biopsied in order to differentiate them from other spindle cell lesions.

  15. Lymphocytoma cutis: diagnostic enigma for the maxillofacial surgeon

    Science.gov (United States)

    2016-01-01

    Cutaneous lymphoid hyperplasia (CLH) is a cutaneous pseudolymphoma with a worldwide distribution, equally affecting all races and ethnic groups. Due to its vast array of characteristics, it is most often missed in the differential diagnosis of firm to soft lumps on the head and neck. A systematic approach to the workup and diagnosis along with treatment of such lesions is discussed in this article. A 20-year-old Asian Indian female presented to our Oral and Maxillofacial unit with a lump on the left side of her forehead for 1 month. Local examination revealed a 2.5×3.0 cm2, well circumscribed swelling over the left para median region that was firm to doughy and non-tender. There was no other significant finding on general examination. Excisional biopsy of the lesion was performed, followed by histopathologic processing. The general etiology, pathogenesis, clinical presentation, differential diagnosis, clinical course, prognosis, treatment, and prevention have been discussed in line with the recent modalities of diagnosis and treatment of CLH. Due to the overlapping clinical and histological characteristics of CLH with many other lesions, it is important to consider this lesion in the differential diagnosis of cutaneous lesions. PMID:28053910

  16. 在中国人先天性厚甲症Ⅰ型患者中检测出两种KRT6A基因突变%Two mutations of the KRTT6A gene in Chinese patients with pechyonychia congenita type Ⅰ

    Institute of Scientific and Technical Information of China (English)

    白转丽; 冯义国; 谭升顺; 康瑞花; 王新阳; 贺大林

    2009-01-01

    目的 分别研究一个先天性厚甲症Ⅰ型家系和一个散发患者基因突变,探讨基因型与表型的相关性.方法 研究对象包括6例先天性厚甲症Ⅰ型患者,其中包括家系中5例患者和1例散发病例,同时取家系中1名正常人及与该家系无关的100名正常人作为正常对照排除多态性,采用长链PCR特异扩增了外周血基因组DNA的KRT16和KRT6A两个候选致病基因全长,PCR产物直接测序检测突变.结果 家系和散发病例的KRT16基因均未发现基因突变.而两者的KRT6A基因分别出现了突变:家系中5例患者的第465位密码子由TAC突变为CAC,导致酪氨酸由组氨酸替代(Y465H);散发患者KRT6A基因第171位密码子由AAC突变为GAC,导致天门冬酰胺由天门冬氨酸替代(N171D),而该家系中的1名正常人及与该家系无关的100名正常人的DNA测序结果未发现此突变.Y465H和N171D分别位于2B的终末端和1A的起始部这两个突变热点.结论 该家系和散发病例分别存在KRT6A基因突变Y465H和N171D,其中前者为一新的错义突变,N171D近期已有文献报道.该突变可能为先天性厚甲症Ⅰ型的遗传病因.%Objective To investigate the gene mutation in a Chinese pedigree and one sporadic case with pachyonychia congenita type Ⅰ(PC-1), as well as to explore the relationship between the genotype and phenotype. Methods The whole coding region of the KRT16 and KRT6A genes were amplified by long-range polymerase chain reaction (PCR). Six patients with PC-1 were studied, five of them were from a pedigree and the other one was sporadic. One unaffected member in the pedigree and 100 unrelated healthy individuals were also studied in order to exclude polymorphism. PCR products were directly sequenced to detect the mutation. Results No mutations in the KRT16 gene were observed. All patients harbored a mutation in the KRT6A gene. All five patients in the pedigree had a mutation at codon 465 (TAC to CAC) which

  17. DAX-1基因突变所致先天性肾上腺发育不良患者下丘脑-垂体-睾丸轴功能分析%Dysfunction of hypothalamic-pituitary-testicular axis in patients with adrenal hypoplasia congenita due to DAX-1 gene mutation

    Institute of Scientific and Technical Information of China (English)

    郑俊杰; 伍学焱; 聂敏; 刘兆祥; 王曦; 黄炳昆; 付勇; 卢琳; 段炼

    2016-01-01

    目的 分析DAX-1基因突变所致X连锁先天性肾上腺发育不良(AHC)患者下丘脑-垂体-睾丸轴(HPTA)功能损伤的部位、程度及生精疗效.方法 回顾性分析北京协和医院2007年11月至2014年12月收治的经基因测序确诊为DAX-1基因突变的24例成年男性患者的临床表现、激素测定和精液分析结果,探讨其HPTA功能损伤的部位及程度.结果 所有患者均有原发性肾上腺皮质功能减退症的表现,21例(87.5%)患者在10岁前发病.患者治疗前睾丸体积2.0(2.0,3.8) ml,3例有隐睾史.经人绒毛膜促性腺激素(HCG)刺激后(16例),血总睾酮从0.1(0,0.5) nmol/L升高至13.5(7.6,15.4) nmol/L.23例患者确诊为低促性腺激素性性腺功能减退症(HH);仅1例患者的血促性腺激素[黄体生成素(LH) 5.2 U/L,卵泡刺激素(FSH) 15.7 U/L]和睾酮水平(13.4 nmol/L)均正常,但精液中无精子.7例患者接受HCG联合人绝经期促性腺激素(HMG)治疗,总治疗时间为80人月,治疗期间血总睾酮水平达15.3(8.4,25.3) nmol/L;睾丸体积从(4.0±2.9) ml增加到(4.9±3.3)ml,但差异无统计学意义(P =0.270),均未见到精子生成.另1例患者接受GnRH脉冲治疗2个月,LH从1.0 U/L增加至9.3 U/L,FSH从3.0 U/L增加至13.5 U/L,总睾酮从0 nmol/L增加至10.0 nmol/L,但治疗前后睾丸体积均为3 ml.结论 DAX-1基因突变所致AHC患者HPTA功能损伤主要表现为HH和原发性生精障碍.患者睾丸间质细胞功能基本正常,但支持细胞和曲细精管功能低下,呈现间质细胞功能和曲细精管功能明显分离.%Objective To evaluate the hypothalamic-pituitary-testicular axis (HPTA) function and spermatogenesis in male patients with X-linked adrenal hypoplasia congenita (AHC) due to DAX-1 gene mutation.Methods Twenty-four adult male patients from Peking Union Medical College Hospital between November 2007 and December 2014 were included.Their DAX-1 gene mutations were confirmed by polymerase chain reaction (PCR

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

    Science.gov (United States)

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

    2010-11-01

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

  19. Lung Aplasia with Pulmonary Artery Sling Like Anomaly

    Directory of Open Access Journals (Sweden)

    Onur Isik

    2016-04-01

    Full Text Available Unilateraly pulmonary agenesis is an extremely rare documented congenital anomaly. It may be defined as total absence of the pulmonary parencilyma, its vascular supporting structure, and bronchi beyond the bifurcation. The present case with reconstructed images is one of the different cases of agenesis reported in the literature.

  20. 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.

  1. Mutations in KCTD1 cause scalp-ear-nipple syndrome.

    Science.gov (United States)

    Marneros, Alexander G; Beck, Anita E; Turner, Emily H; McMillin, Margaret J; Edwards, Matthew J; Field, Michael; de Macena Sobreira, Nara Lygia; Perez, Ana Beatriz A; Fortes, Jose A R; Lampe, Anne K; Giovannucci Uzielli, Maria Luisa; Gordon, Christopher T; Plessis, Ghislaine; Le Merrer, Martine; Amiel, Jeanne; Reichenberger, Ernst; Shively, Kathryn M; Cerrato, Felecia; Labow, Brian I; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2013-04-04

    Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.

  2. Craniosynostosis update 1987.

    Science.gov (United States)

    Cohen, M M

    1988-01-01

    Information on craniosynostosis in this paper updates "Craniosynostosis: Diagnosis, Evaluation, and Management" (Cohen MM Jr: New York: Raven Press, 1986). It also discusses recent developments that were included in the book but need further explanation or emphasis. Subjects discussed are: epidemiology, etiology, sutural biology, growth and development, neurological and psychosocial aspects, surgery, cloverleaf skulls, craniosynostosis syndromes, and prenatal diagnosis. Under the subject of etiology, fetal head constraint, maternal thyroid disease, calcified cephalohematoma, teratogens, and delayed suture closure and Wormian bones are considered. An updating of 15 cloverleaf skull conditions includes four monogenic disorders, two chromosomal disorders, one disruption, one iatrogenic condition, and seven syndromes of unknown cause. Newly recognized disorders with cloverleaf skull include Beare-Stevenson cutis gyratum syndrome and Say-Poznanski syndrome. Craniosynostosis syndromes and associations discussed include acrocraniofacial dysostosis, Apert syndrome, Beare-Stevenson cutis gyratum syndrome, Calabro syndrome, calvarial hyperostosis, chromosomal craniostenosis, Cole-Carpenter type osteogenesis imperfecta, Crouzon syndrome, Curry-Jones syndrome, Curry variant of Carpenter syndrome, cutis aplasia and cranial stenosis, Fontaine-Farriaux syndrome, Gomex-López-Hernández syndrome, Hersh syndrome, hyper-IgE syndrome and craniostenosis, hypomandibular faciocranial dysostosis, Marfanoid features and craniostenosis, Pfeiffer-type cardiocranial syndrome, Pfeiffer-type dolichocephalosyndactyly, and Say-Barber syndrome.

  3. Analysis and observation of T lymphocyte subsets and curative effects in patients with acquired pure red cell aplasia%获得性纯红细胞再生障碍性贫血患者的T淋巴细胞亚群分析及疗效观察

    Institute of Scientific and Technical Information of China (English)

    朱琳; 安利; 王增胜; 富玲

    2016-01-01

    Objectives To investigate distribution of T lymphocyte subsets,absolute value and proportion of large granular lymphocyte(LGL) in peripheral blood and bone marrow of acquired pure red cell aplasia (PRCA) patients,and to evaluate patients' immune function and efficacy of immunosuppressive agents.Methods From January 2002 to November 2015,a total of 25 patients with acquired PRCA who were treated at Department of Hematology,People's Hospital of Xinjiang Uygur Autonomous Region at first-visit were enrolled into this study,as study group.Inclusion criteria of study group:patients' diagnoses were conformed to the diagnostic criteria of PRCA in Diagnosis and Curative Effect of Hematology (3rd edition) and clinical data were complete.Exclusion criteria:other anemia disease and clinical data were not complete.In 25 cases of PRCA patients,5 cases were secondary PRCA with T celllarge granular lymphocyte leukemia (T-LGLL),other 20 cases were primary PRCA.And 25 cases of health people who were receiving physical examination at the People's Hospital of Xinjiang Uygur Autonomous Region during the same period were recruited into control group randomly,by simple random method.Inclusion criteria of control group:no abnormality in blood routine examination and biochemical test.Exclusion criteria:abnormality in blood routine examination,and suffering from immune disease,tumor.T lymphocyte subsets of subjects in study group and control group were detected by flow cytometry.Blood routine examination and bone marrow examination were carried out in study group before and after treatment.Then absolute value and proportion of LGL in bone marrow,peripheral blood and curative effect after drug treatment of cyclosporine A and so on of 25 acquired PRCA patients were analyzed retrospectively and compared statistically.The study protocol was approved by the Ethical Review Board of Investigation in Human at People's Hospital of Xinjiang Uygur Autonomous Region.There were no statistically

  4. Disease: H00557 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00557 Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal reces...sive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); ...d M, Lefeber DJ, Wevers RA Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 17:1099-110 (2

  5. Johanson-Blizzard syndrome

    Institute of Scientific and Technical Information of China (English)

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

    2011-01-01

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

  6. 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.

  7. 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.

  8. 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.

  9. Meget svaer spinal muskelatrofi--type 0. En årsag til arthrogryposis multiplex congenita

    DEFF Research Database (Denmark)

    Balslev, Thomas; Hertz, Jens Michael; Rackauskaite, Gija;

    2001-01-01

    A female infant born at term, with reduced fetal movements in utero, congenital multiple contractures, severe weakness at birth, and a short time of survival is described. The diagnosis was confirmed by identification of homozygous deletion of exons 7 and 8 of the SMNt gene. Severe spinal muscular...... atrophy should be considered in the differential diagnosis of reduced fetal movements....

  10. Meget svaer spinal muskelatrofi--type 0. En årsag til arthrogryposis multiplex congenita

    DEFF Research Database (Denmark)

    Balslev, T; Hertz, J M; Rackauskaite, G;

    2001-01-01

    A female infant born at term, with reduced fetal movements in utero, congenital multiple contractures, severe weakness at birth, and a short time of survival is described. The diagnosis was confirmed by identification of homozygous deletion of exons 7 and 8 of the SMNt gene. Severe spinal muscular...... atrophy should be considered in the differential diagnosis of reduced fetal movements. Udgivelsesdato: 2001-Oct-8...

  11. 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.

  12. 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.

  13. 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].

  14. High-resolution MR imaging of the cutis and subcutis. Histological correlation

    Energy Technology Data Exchange (ETDEWEB)

    Krug, B.; Kugel, H.; Krahe, T.; Lackner, K. [Koeln Univ. (Germany). Radiologisches Inst. und Poliklinik; Schulze, H.J. [Koeln Univ. (Germany). Klinik und Poliklinik fuer Dermatologie und Venerologie; Gieseke, J. [Philips Medical Systems, Hamburg (Germany)

    1998-09-01

    Objective: To determine whether the spatial resolution that can be achieved with currently available MR devices is adequate for the evaluation of skin disease. Material and Methods: We correlated high-resolution MR images of the skin with dermatohistopathology in 26 patients. The examinations were carried out on a 1.0 T imager using a commercially available surface coil (ID 7.5 cm) and optimized SE and GE sequences. Image quality was assessed by four readers on a questionnaire. Results: The visualization of the dermis, subcutaneous tissue, and muscle fascia allowed a pattern analysis that gave findings identical to those at dermatohistopathology. It was possible to distinguish septal from lobular panniculitis, and lipatrophia from sclerodermia. Images with contrast media infusion were useful in the differential diagnosis. Conclusion: High-resolution MR imaging may narrow down the differential diagnosis of various skin diseases and may help to reduce the number of skin biopsies on certain indications. (orig.)

  15. Coexistent granulomatous vasculitis and leukaemia cutis in a patient with resolving herpes zoster.

    Science.gov (United States)

    Elgoweini, M; Blessing, K; Jackson, R; Duthie, F; Burden, A D

    2011-10-01

    An 80-year-old man presented with a 6-month history of indurated tender purple papules. These had coalesced to form plaques with some central scarring and a dermatomal distribution on the left arm, immediately following herpes zoster (HZ) infection at this site. The patient had a 5-year history of small lymphocytic lymphoma (SLL), which was being managed conservatively under a 'watch and wait' protocol. On histological examination of a skin biopsy, marked interstitial granulomas and prominent granulomatous vasculitis were seen, supporting the clinical impression of a post-HZ granulomatous reaction. In addition, there was a dense monoclonal small B-cell lymphocytic infiltrate indicating koebnerization by SLL (a finding that has not been reported previously with concurrent postherpetic granulomatous vasculitis). Although benign pseudolymphomas occur in postherpetic cases, this case shows that even in association with benign vasculitic features true lymphomas can occur. Furthermore, this case highlights the importance of immunocytochemistry, molecular studies and clinicopathological correlation.

  16. Calcinosis Cutis, Renal Insufficiency and Low-Molecular-Weight Calcium Containing Heparins

    OpenAIRE

    2014-01-01

    Foi solicitada observação por Dermatologia de uma doente de 35 anos de idade, de raça negra, por 2 nódulos subcutâneos localizados na região paraumbilical direita e flanco direito com 2 semanas de evolução. Da história prévia, destaque para doença renal crónica em programa de hemodiálise e infeção pelo vírus da imunodeficiência humana (VIH-1). Ao exame objetivo observaram-se 2 nódulos bem delimitados, subcutâneos, sem alteração da coloração; à palpação, estes eram dolorosos, de consistê...

  17. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations

    NARCIS (Netherlands)

    Kariminejad, Ariana; Bozorgmehr, Bita; Najafi, Abdolhamid; Khoshaeen, Atefeh; Ghalandari, Maryam; Najmabadi, Hossein; Kariminejad, Mohamad H; Vanakker, Olivier M; Hosen, Mohammad J; Malfait, Fransiska; Quaglino, Daniela; Florijn, Ralph J; Bergen, Arthur A B; Hennekam, Raoul C

    2014-01-01

    Gamma-glutamyl carboxylase (GGCX) mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)-like phenotype, loose redundant skin, and multiple vitamin K-dependent coagulation factor deficiencies. We report on the clinical findings and molecular results in 13 affected members of

  18. 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.

  19. 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.

  20. Mast Cell Growth Factor Enhances Multilineage Hematopoietic Recovery in Vivo Following Radiation-Induced Aplasia

    Science.gov (United States)

    1994-01-01

    lymphocyte, monocyte, tributing to morbidity and mortality associated with hemato- eosinophil , and basophil numbers, as well as an increase in...factor (ligand for c-kit) administered in murine mast cell growth factor (c-kit figand) on colony vivo to mice either alone or in combination with granu

  1. Genetics Home Reference: congenital deafness with labyrinthine aplasia, microtia, and microdontia

    Science.gov (United States)

    ... SN, Nasir I, Shaukat U, Riazuddin S, Butman JA, Griffith AJ, Friedman TB, Choi BY. Variable expressivity of ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  2. Aplasia e hipoplasia del nervio auditivo : correlación anatómico-funcional

    OpenAIRE

    Paula Vernetta, Carlos de

    2014-01-01

    La hipoacusia neurosensorial es uno de los problemas más frecuentes que afectan al recien nacido, llegando a afectar a entre 1,5 y 6 niños por cada 1000 recien nacidos vivos (Domínguez, 2011). Aunque la pérdida auditiva puede originarse en cualquier lugar de la vía auditiva es de todos conocido que la afectación más frecuente ya sea de causa congénita o adquirida se va a localizar a nivel coclear y en concreto a nivel de la célula ciliada. Estudios recientes sugieren que la disfunción del n...

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

    Science.gov (United States)

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

    2016-04-07

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

  4. Selected Abstracts of the 6th International Congress of UENPS; Valencia (Spain; November 23rd-25th 2016; Session “Miscellanea”

    Directory of Open Access Journals (Sweden)

    --- Various Authors

    2016-11-01

    Full Text Available Selected Abstracts of the 6th International Congress of UENPS; Valencia (Spain; November 23rd-25th 2016; Session “Miscellanea”ABS 1. CALVARIAL AGENESIS AND APLASIA CUTIS CONGENITA: A CASE REPORT • F.P. Bunjamin, R.D. RoeslaniABS 2. NEUROCUTANEOUS MELANOSIS IN A NEWBORN • R. Tameliene, A. Vinskaite, J. Buinauskiene, R. DzikieneABS 3. TLR2/TLR6 HETERODIMER-MEDIATED INNATE IMMUNE RESPONSE IN CORD BLOOD IMMUNE CELLS • Y. Cho, D. Tokuhara, K. Nohmi, M. Saito, D. Tachibana, M. Koyama, H. ShintakuABS 4. PRADER-WILLI SYNDROME IN OUR HOSPITAL. ARE WE DIAGNOSING AND TREATING EARLY? • B. Rodriguez Azor, R. Roldán López, S. Ariza Aranda, D. López Martín, T. Fernandez Ferrandez, V. Schmitz, E. Salguero García, T. Sánchez TamayoABS 5. RISK FACTORS ASSOCIATED WITH PRENATAL EXPOSURE TO “SHABU” • J. Candel Pau, J. García García, C. Manzano Varo, L. Román Eyo, S. Calpe Fraile, MA. López-VílchezABS 6. VITAMIN D STATUS IN PREGNANT WOMEN AND NEWBORNS IN LA RIOJA AREA IN SPAIN • M. Ruiz, B. Riaño, MY. Ruiz, MP. Samper, P. VenturaABS 7. NEONATAL RESUSCITATION TRAINING COURSES. TRAINEES’ PERCEPTION • S. Zeballos Sarrato, G. Zeballos, C. Ramos, N. Oikonomopoulou, N. Navarro, M. Sánchez LunaABS 8. METABOLOMIC PROFILE IN NEWBORNS MIRRORS THAT OF THEIR MOTHERS IN PREGNANCY • S. Negro, M. Longini, ML. Tataranno, F. Proietti, M. Tassini, A. Vivi, F. Bazzini, E. Belvisi, F. Vanacore, M. Calderisi, G. Buonocore, S. PerroneABS 9. INTRAUTERINE MECONIUM PERITONITIS DUE TO SIGMOID PERFORATION OF UNKNOWN ETIOLOGY IN A 29 WEEKER: MANAGEMENT AND OUTCOME. A CASE PRESENTATION • M. Simon, M. Rusneac, R. Marian, Z.S. Gall, L.M. Suciu, M.C. CucereaABS 10. THE RESULTS OF NEWBORN HEARING SCREENING BY MEANS OF TRANSIENT OTOACOUSTIC EMISSIONS – HAS ANYTHING CHANGED OVER 10 YEARS? • K. Wroblewska-Seniuk, G. Greczka, P. Dabrowski, J. MazelaABS 11. NEONATAL GASTRIC PERFORATION: A REPORT OF ONE CASE IN OUR NICU • N. Lecumberri García, I

  5. 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

  6. 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.

  7. 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...

  8. Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an α1(I)-like collagen.

    NARCIS (Netherlands)

    F.M. Pope; K.S.E. Cheah (Kathryn); A.C. Nicholls; A.B. Price; F.G. Grosveld (Frank)

    1984-01-01

    textabstractBroad boned lethal osteogenesis imperfecta is a severely crippling disease of unknown cause. By means of recombinant DNA technology a 300 base pair deletion in an alpha 1(I)-like collagen gene was detected in six patients and four complete parent-child groups including patients with this

  9. Experiencia del Instituto de Ortopedia Infantil Roosevelt en el manejo de pacientes con pseudoartrosis congenita de tibia

    OpenAIRE

    Cortes Buitrago, Viviana Ines

    2010-01-01

    La pseudoartrosis congénita de la tibia es una enfermedad de muy baja incidencia, pero con gran morbilidad en el paciente afectado por la misma. Es un reto para el ortopedista infantil porque no existe un consenso sobre su etiología y tratamiento. La dificultad en el manejo, esta en obtener y mantener unión o consolidación y simultáneamente proveer una extremidad funcional. El Propósito de este estudio es describir los resultados en el manejo de esta patología en el Instituto de ortopedia Inf...

  10. 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.

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

    OpenAIRE

    Rubio Romero, Jorge Andrés

    2013-01-01

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

  12. Artroplastia total no cementada en la coxartrosis secundaria a displasia y luxación congenita de cadera

    OpenAIRE

    Headley, A. K.; Ponziani, L.; Albert Pamplo, R.; Pompili, M; Vicenzi, G.

    1992-01-01

    Se revisan 13 prótesis no cementadas implantadas en 12 paciente s que presentaban una coxartrosis secundaria a una displasia congénita de cadera. Los paciente s han sido seguidos más de 2 años de evolución. En todos los casos se utilizó la via de abordaje postero-lateral. Se implantó siempre la prótesis tipo PCA procediéndose en 7 casos a la realización, a nivel acetabular, de un alo o autoinjerto complementario. A nivel femoral se utilizaron 7 vástagos estándar, 3 medianos y 3...

  13. La cuti-reaccion de von pirquet y los alumnos de las escuelas públicas de bogotá

    OpenAIRE

    Sáenz Caycedo, Vicente

    2011-01-01

    A pesar de que algunos consideran como más sensible la prueba de la intraderrno-reacción de Mantoux, nosotros la desechamos siempre, temerosos de que algunas veces produce no solamente la inflamación local sino también la de los focos tuberculosos, e intensas reacciones febriles. En todos los casos seguimos invariablemente la técnica establecida por Von Pirquet, que hemos descrito en capítulo anterior, y la tuberculina que sirvió para nuestras investigaciones fue "tuberculina bruta" (A. T.), ...

  14. 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.

  15. Morfometria da unidade dermo-epidermica na cutis citrina de Milian e na pele não-exposta

    OpenAIRE

    Anna Antonio Gomes

    2001-01-01

    Resumo: Fotoenvelhecimento e fotodano são temas desafiadores e inesgotáveis. A maioria dos estudos enfatiza os aspectos epidérmicos, enquanto outros os dérmicos. Todavia, há poucos trabalhos referentes à íntima correlação entre estes dois compartimentos, que devem ser considerados como um todo: a unidade dermoepidérmica. o estudo foi baseado em 61 trabalhadores com mais de dez anos de fotoexposição, acima de 45 anos, que apresentavam dois padrões básicos de fotodano cutâneo: atrofia e elas...

  16. 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.

  17. Disease: H00906 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome Macrocephal...y, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of...val hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis...haly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 85:254-6

  18. 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.

  19. Nursing care of 1 child with osteogenesis imperfecta congenita%1例先天性成骨不全症患儿的护理

    Institute of Scientific and Technical Information of China (English)

    翁湘

    2011-01-01

    @@ 先天性成骨不全症又名脆骨症,为全身性结缔组织病,是临床上少见的疾病.该病遭受轻微外力便容易发生病理性骨折,对护理有很高的要求.本科于2010年3月17日收治1例先天性成骨不全患儿,现将临床特点与护理介绍如下.

  20. [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

  1. ETIOPATOGENIA DE LA HIDROCEFALIA CONGENITA: ROL DE ALFA-SNAP Y LAS UNIONES ADHERENTES DEPENDIENTES DE N-CADHERINA EN EL DENUDAMIENTO DEL NEUROEPITELIO/EPENDIMO.

    OpenAIRE

    BATIZ, LUIS FEDERICO

    2008-01-01

    La hidrocefalia congénita es una condición patológica del sistema nervioso central (SNC) caracterizada por la acumulación intracraneal de líquido cefalorraquídeo y la dilatación del sistema ventricular. Durante el desarrollo embrionario temprano, la región luminal de las paredes del sistema ventricular (zona ventricular) está formada fundamentalmente por células troncales (neuroepitelio/glía radial); en los estadios avanzados del desarrollo embrionario, células ependimarias inmaduras comie...

  2. 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

  3. Isolated right pulmonary artery agenesis with aplasia of right upper lobe and with anomalous arterial supply from celiac axis, anomalous venous drainage

    Directory of Open Access Journals (Sweden)

    Tushar Madhav Kalekar

    2015-01-01

    Full Text Available Pulmonary artery agenesis is the complete absence of the right or left pulmonary artery. This lesion is commonly associated with other cardiac anomalies and is usually diagnosed incidentally. Unilateral absence of pulmonary artery with lung hypoplasia is very rare. Ipsilateral hypoplastic or absent central pulmonary artery in these patients will have a systemic arterial supply to peripheral pulmonary arteries of the affected lung from the descending thoracic or upper abdominal aorta. These findings are usually characterized as pulmonary veno lobar syndrome or scimitar syndrome when associated with ipsilateral total or partial anomalous pulmonary venous return from the lower lobe which drains into the inferior vena cava or less commonly to the hepatic, azygous, or portal vein, or into the right atrium and lung agenesis/hypoplasia.

  4. 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)

  5. 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.

  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.

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

    Directory of Open Access Journals (Sweden)

    S Sreedharanunni

    2016-01-01

    Full Text Available 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.

  8. Disease: H00847 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available (description) Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S Limb/pelvis-hypoplasia/aplasia syndrome (A...Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutati

  9. Disease: H00846 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00846 Fuhrmann syndrome; Fibular aplasia or hypoplasia, femoral bowing and poly-, ...syn-, and oligodactyly Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia... and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia...ption) Fuhrmann W, Fuhrmann-Rieger A, de Sousa F Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia

  10. Disease: H00507 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available s including cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome, H00788) and bilateral exudative retinopath... variants of dyskeratosis congenita has been reported in which additional finding

  11. Investigation of the Genetics of Hematologic Diseases

    Science.gov (United States)

    2017-03-01

    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

  12. Anatomic variants and congenital abnormalities of the biliary tree seen on magnetic resonance cholangiopancreatography; Variantes anatomicas e anomalias congenitas das vias biliares e pancreaticas: analise atraves da colangiopancreatografia por ressonancia magnetica

    Energy Technology Data Exchange (ETDEWEB)

    D' Ippolito, Giuseppe; Rosas, George de Queiroz; Appezzato, Luiz Fernando; Carvalho, Gabriela Araujo; Galvao Filho, Mario de Melo [Hospital e Maternidade Sao Luiz, Sao Paulo, SP (Brazil). Setor de US/TC/RMN]. E-mail: giuseppe_dr@uol.com.br

    2006-01-15

    In order to illustrate the role of magnetic resonance cholangiopancreatography (MRCP) in the diagnosis of anatomic variants and congenital abnormalities of the biliary tree, we conducted a retrospective study o MRCP scans performed due to different indications to identify anatomic variants and congenital abnormalities of the pancreas and biliary tree. High field MR machines (1.0 T and 1.5 T) and 3D TSE sequences were used to obtain images in the axial and coronal planes with MIP reconstructions in all studies. MRCP showed low cystic duct insertion, and a parallel course of the cystic and hepatic ducts as well as bile duct bifurcation abnormalities and aberrant right and left hepatic duct. We also present examples of the main types of congenital cystic dilatation of the bile ducts. The recognition of the main anatomic variants of the biliary tree and pancreatic ducts helps to optimize the diagnostic accuracy of MR cholangiopancreatography. (author)

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    -like dysplasia (n = 2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38......-74) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto-axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10-54) in whom flexion-extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35...

  14. Reacções parentais ao diagnóstico perinatal de anomalia congenita do bebé: Implicações para a intervenção dos profissionais de saúde

    OpenAIRE

    2010-01-01

    A notícia de um diagnóstico de anomalia congénita do bebé no período perinatal reveste-se de um impacto emocional significativo para os pais, constituindo um desafio para a actuação dos profissionais de saúde. O objectivo deste trabalho é delinear implicações para a intervenção dos profissionais de saúde, tendo por base uma reflexão sobre a investigação existente acerca das reacções parentais ao diagnóstico de anomalia congénita do bebé.Ainvestigação empírica descreve reacções ...

  15. Cu-Ti合金Spinodal分解透射电镜衍射斑的计算机模拟%Computer Simulation of TEM Diffraction Pattern of Spinodal Decomposition for Cu-Ti Alloy

    Institute of Scientific and Technical Information of China (English)

    王六定; 冀邦杰; 刘晓军

    1999-01-01

    It is well known that the lattice waves in alloy can be looked upon as the super position of a series of plane waves with different wave vectors. Because of thes e plane wave′s diffraction action for X photon, there are two satellites (sideban ds) arou nd X-ray main diffraction peak. With the wavelength and asymmetric factor αy of rectangle wave of the distribution of concentration introduced, the am plitude of modulation wave appearing along some crysallographic direction can be expressed clearly in the form of a sum of several diffraction wave vectors in t he reciprocal space, and the diffracted intensity can be obtained.The X-ray diffraction angle of sidebands strongly depends on the distribution o f the wavelength. Fig.1b gives the simulated X-ray diffraction profiles. It shows that when we fix the average modulated wavelength and change the distribut ion of wavelength, the angle difference between the satellite and main diffracti on peak varies correspondingly. The simulated diffraction profiles are in good a greement with experimental results[1] (Fig.1a). The more diffuse the dis tribution of wavelength is, the nearer the sidebands are to main peak, and vice versa. In addition, the intensity and position of satellite are obviously restri cted by the asymmetric factor of wave shape.Any lattice wave propagating in crystal can be resolved along coordinate axes. O n the basis of the principle of superposition, all compositions of the lattice w ave have diffraction profiles of themselves. Add two diffraction patterns perpen dicular to each other on the reciprocal plane which is normal to the projected d irection, we get the simulated TEM diffraction pattern of spinodal decomposition . Fig.2a is the TEM pattern by Kubo H[2], Fig.2b and 2c are the sim ulated TEM patterns by Kubo H[2] and Khachaturyan A G[3] respect ively. Our simulated TEM pattern (Fig.2d) is in good agreement with Fig.2a.

  16. A Preliminary Discussion of Theory on Treatment of Xerosis Cutis from Damp Evil%从“湿”论治皮肤干燥的理论初探

    Institute of Scientific and Technical Information of China (English)

    郭逸昀; 朱金土

    2015-01-01

    除燥邪致病外,人体津液输布失常亦会引起皮肤干燥.湿浊内蕴会使三焦气机受阻,从而影响津液的正常输布;而阴虚内热会灼伤津液,使之运行缓慢,内停而产生湿浊,出现阴虚夹湿的证候.可见“湿”与皮肤干燥的发生有着密切的联系,在临床治疗上,“燥从湿治”往往能取得意想不到的好疗效.

  17. Therapeutic efficiency of synthokine SC-55494, a human IL-3 receptor agonist, in a nonhuman primate model of HIGH dose, sublethal, radiation-induced marrow aplasia; Efficacite therapeutique d`un variant d`interleukine-3 chez des macaques irradies

    Energy Technology Data Exchange (ETDEWEB)

    Herodin, F.; Farese, A.; Grab, L.; McKearn, J.P.; Mestries, J.C.; McVittie, T.J.

    1994-12-31

    The synthetic cytokine (Synthokine) SC-55494 is a high affinity IL-3 receptor ligand. The therapeutic administration of Synthokine to total body irradiated (TBI) monkeys (7 Gy gamma) from day 1 post TBI for 23 days, significantly enhanced platelet recovery and modulated aneutrophil nadir. (author). 6 refs.

  18. 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)

  19. Células tronco imaturas de polpa dentária humana: uma nova estratégia terapêutica para o tratamento da aplasia de medula óssea em modelo animal.

    OpenAIRE

    Vivian Fonseca Gonzaga

    2016-01-01

    AA é uma doença grave caracterizada por pancitopenia e hipocelularidade medular, que pode levar a morte. Em casos severos os tratamentos são restritos ao transplante alogênico de MO e/ou uso de imunossupressores. Para isso, deve ser tipado o HLA entre doador e beneficiário. Com isso, as CTM são fontes celulares candidatas para este propósito, pois são praticamente não imunogênicas devido à sua ação parácrina de imunomodulação. Além disso, as CTM possuem um importante papel na hematopoiese. Pa...

  20. 1例Ehlers-Danlos综合征病人的护理

    Institute of Scientific and Technical Information of China (English)

    蔡志敏

    2009-01-01

    Ehlers-Danlos综合征(EDS)又名弹力过渡性皮肤(cutis hyperelastica)、皮肤毛细管破裂(dermatorrhexis)、伴皮肤和关节松弛的皮肤毛细管破裂(dermatorrhexis withdermatochala-sis)、弹力皮肤(cutis elastica)等。

  1. 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.

  2. Microstructure and Interfacial Reactions During Vacuum Brazing of Stainless Steel to Titanium Using Ag-28 pct Cu Alloy

    Science.gov (United States)

    Laik, A.; Shirzadi, A. A.; Sharma, G.; Tewari, R.; Jayakumar, T.; Dey, G. K.

    2015-02-01

    Microstructural evolution and interfacial reactions during vacuum brazing of grade-2 Ti and 304L-type stainless steel (SS) using eutectic alloy Ag-28 wt pct Cu were investigated. A thin Ni-depleted zone of -Fe(Cr, Ni) solid solution formed on the SS-side of the braze zone (BZ). Cu from the braze alloy, in combination with the dissolved Fe and Ti from the base materials, formed a layer of ternary compound , adjacent to Ti in the BZ. In addition, four binary intermetallic compounds, CuTi, CuTi, CuTi and CuTi formed as parallel contiguous layers in the BZ. The unreacted Ag solidified as islands within the layers of CuTi and CuTi. Formation of an amorphous phase at certain locations in the BZ could be revealed. The -Ti(Cu) layer, formed due to diffusion of Cu into Ti-based material, transformed to an -Ti + CuTi eutectoid with lamellar morphology. Tensile test showed that the brazed joints had strength of 112 MPa and failed at the BZ. The possible sequence of events that led to the final microstructure and the mode of failure of these joints were delineated.

  3. Disease: H00684 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available awler syndrome ; Steatocystoma multiplex Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders...0 167200 184500 PMID:21890491 (description) McLean WH, Moore CB Keratin disorders: from gene to therapy. Hum

  4. Disease: H00705 [KEGG MEDICUS

    Lifescience Database Archive (English)

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

  5. 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

  6. Disease: H00921 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00921 Revesz syndrome; Exudative retinopathy with bone marrow failure Revesz syndr... very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure

  7. 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

  8. 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...

  9. 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...

  10. 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

  11. Chateter-associated Urinary Tract Infections in Adults

    OpenAIRE

    Piljic, Dilista; Porobic-Jahic, Humera; Piljic, Dragan; Ahmetagic, Sead; Jahic, Rahima

    2013-01-01

    Introduction: Hospital-acquired Urinary tract infections make 35% of all the hospital-acquired infections, and about 80% of them are related to the catheterization of the urinary bladder Purpose: To determine clinical characteristics and dominant etiologic factors of Urinary Tract Infections associated with urinary catheter (C-UTIs). Methods: Determined clinical characteristics of C-UTIs were prospectively analyzed on 38 hospitalized patients in the Clinic for Infectious Diseases at the Unive...

  12. 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.

  13. [Structural congenital myopathies].

    Science.gov (United States)

    Erazo-Torricelli, Ricardo

    2013-09-06

    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.

  14. Disease: H00637 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia... or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital

  15. 75 FR 26258 - Government-Owned Inventions; Availability for Licensing

    Science.gov (United States)

    2010-05-11

    ..., pure red cell aplasia in immunosuppressed patients, and hydrops fetalis during ] pregnancy. In children... have duel functions as an initiator of TH1-type (cellular immunity) immune responses and as...

  16. Syndrome de Smith-Lemli-Opitz

    DEFF Research Database (Denmark)

    Pelluard-Nehmé, Fanny; Carles, Dominique; Alberti, Eve Marie;

    2005-01-01

    toe, postaxial polydactyly and genital anomalies with sexual ambiguity. We report a fetal case with intrauterine growth retardation, genital anomalies, multiple malformations with cardiac anomalies, renal aplasia and facial anomalies detected by prenatal ultrasound. Medical abortion was induced at 24...

  17. Spiral CT in aplasia of the pre-renal inferior vena cava as a cause of phlebothrombosis from the femoral veins to the inferior vena cava; Spiral-CT einer Aplasie der praerenalen Vena cava inferior als Ursache einer Phlebothrombose von den Oberschenkelvenen bis in die Vena cava inferior

    Energy Technology Data Exchange (ETDEWEB)

    Schweiger, U. [Strahlenklinik und Poliklinik, Universitaetsklinikum Rudolf Virchow, Freie Univ. Berlin (Germany); Schedel, H. [Strahlenklinik und Poliklinik, Universitaetsklinikum Rudolf Virchow, Freie Univ. Berlin (Germany); Thiede, U. [Deutsches Herzzentrum Berlin (Germany). Arbeitsgruppe Digitale Bildbearbeitung; Felix, R. [Strahlenklinik und Poliklinik, Universitaetsklinikum Rudolf Virchow, Freie Univ. Berlin (Germany)

    1994-12-31

    The case report focuses on the computed tomography of the thrombotic okklusion of the inferior vena cava, venae iliacae and femorales communes due to congenital interruption of the prerenal inferior vena cava. The embryology of the abnormality was discussed. (orig.) [Deutsch] Anhand einer Fallstudie wurden die Moeglichkeiten der computertomographischen Diagnostik bei einer durch Teilplasie der `praerenalen` Vena cava inferior hervorgerufenen Thrombose der Vv. femorales superficiales et profundae, der grossen Beckenvenen und der Vena cava inferior erlaeutert. In der Diskussion wurde auf die Embryologie der Missbildung eingegangen. (orig.)

  18. Clinical Study on Men's Pure Red Cell Aplasia Treated with Congrong Yishen Granule and Ciclosporina A%苁蓉益肾颗粒联合环孢菌素A治疗男性纯红细胞再生障碍的临床研究

    Institute of Scientific and Technical Information of China (English)

    吴佳丽; 成志; 俞聘; 陈均法

    2009-01-01

    目的:探讨苁蓉益肾颗粒联合环孢菌素A治疗男性纯红细胞再生障碍的疗效和机制.方法:48例患者随机分为两组,治疗组(24例)用苁蓉益肾颗粒联合环孢菌素A治疗,对照组(24例)用安特尔联合环孢菌素A治疗,两组均治疗12周,观察治疗前后两组相关临床指标(包括血红蛋白、红细胞、红细胞压积、睾酮、雌二醇、泌乳素、淋巴细胞亚群)的变化.结果:治疗12周后两组贫血指标均比治疗前有明显改善,两组疗效无明显差异.治疗后两组雌二醇、泌乳素水平较治疗前下降,睾酮水平较治疗前明显上升,两组对比无明显差异.淋巴细胞亚群分析表明治疗后两组CD+3、CD+8T淋巴细胞较治疗前明显下降,CD+4T淋巴细胞、CD4/CD8比值较治疗前明显上升(P<0.01),治疗后两组对比有统计学差异.结论:苁蓉益肾颗粒联合环孢菌素A治疗男性纯红细胞再生障碍有良好疗效,苁蓉益肾颗粒可通过促进睾酮分泌,刺激红细胞生成,并具有免疫调节作用.

  19. 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

  20. Skin and bones. I.

    Science.gov (United States)

    Orlow, S J; Watsky, K L; Bolognia, J L

    1991-08-01

    Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. They are grouped into eight categories: (1) inherited diseases (e.g., alkaptonuria, neurofibromatosis); (2) congenital disorders (e.g., Sturge-Weber and Proteus syndromes); (3) inflammatory conditions (e.g., dermatomyositis, sarcoidosis); (4) infections (e.g., dental sinus, syphilis); (5) neoplasias (e.g., histiocytosis, mastocytosis); (6) drug- and environment-induced (e.g., acroosteolysis, retinoid toxicity); (7) calcinosis cutis; and (8) osteoma cutis. Part I of our review discusses the first two categories.

  1. Skin and bones. II.

    Science.gov (United States)

    Orlow, S J; Watsky, K L; Bolognia, J L

    1991-09-01

    Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. They are grouped into eight categories: (1) inherited diseases (e.g., alkaptonuria, neurofibromatosis); (2) congenital disorders (e.g., Sturge-Weber and Proteus syndromes); (3) inflammatory conditions (e.g., dermatomyositis, sarcoidosis); (4) infections (e.g., dental sinus, syphilis); (5) neoplasias (e.g., histiocytosis, mastocytosis); (6) drug- and environment-induced (e.g., acroosteolysis, retinoid toxicity); (7) calcinosis cutis; and (8) osteoma cutis. The first part of this review, published in the August 1991 issue of this JOURNAL, dealt with the first two categories; part II discusses categories 3 through 8.

  2. Subepidermal calcified nodule in upper eyelid: A case report and review of the literature

    Science.gov (United States)

    Samaka, Rehab Monir; Al-Madhani, Ali; Hussian, Shereen Ossman

    2015-01-01

    Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin and is often associated with autoimmune diseases. A 3-year-old healthy Omani child presented for evaluation of asymptomatic hard nodule on the left upper eyelid. Pathological examination identified the mass as subepidermal calcified nodule. The patient had no history of trauma or metabolic disturbances. Serum levels of calcium and phosphate were normal. Idiopathic calcinosis cutis should be included in the differential diagnosis for eye lid mass. PMID:25709278

  3. Subepidermal calcified nodule in upper eyelid: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Rehab Monir Samaka

    2015-01-01

    Full Text Available Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin and is often associated with autoimmune diseases. A 3-year-old healthy Omani child presented for evaluation of asymptomatic hard nodule on the left upper eyelid. Pathological examination identified the mass as subepidermal calcified nodule. The patient had no history of trauma or metabolic disturbances. Serum levels of calcium and phosphate were normal. Idiopathic calcinosis cutis should be included in the differential diagnosis for eye lid mass.

  4. Microstructure of the Al2O3/Al2O3 Joint Brazed with Cu-Zn-Ti Filler Metal

    Institute of Scientific and Technical Information of China (English)

    Hongyuan FANG; Jianguo YANG; Xiuyu YU

    2001-01-01

    Microstructure and interface reactions of Al2O3 joints brazed by Cu-Zn-Ti alloy were studied by using SEM, EDS and XRD. The effects of brazing temperature and Ti content on interfacial reactions and microstructure were investigated, and the action of adding Zn into brazing alloy was also studied. TiO, Ti3Al and CuTi were formed at the interface of ceramics and the filler metal, while CuTi, Cu3Ti and α-Cu were found in the brazing. The thickness of the reaction layer increased with increasing of brazing temperature, under the same brazing process, the thickness increased with the Ti content.

  5. Comparison of Ertapenem and Ceftriaxone Therapy for Acute Pyelonephritis and Other Complicated Urinary Tract Infections in Korean Adults: A Randomized, Double-Blind, Multicenter Trial

    OpenAIRE

    PARK, DAE WON; Peck, Kyong Ran; Chung, Moon Hyun; Lee, Jin Seo; Park, Yoon Soo; Kim, Hyo Youl; Lee, Mi Suk; Kim, Jung Yeon; Yeom, Joon Sup; Kim, Min Ja

    2012-01-01

    The efficacy and safety of ertapenem, 1 g once daily, were compared with that of ceftriaxone, 2 g once daily, for the treatment of adults with acute pyelonephritis (APN) and complicated urinary tract infections (cUTIs) in a prospective, multicenter, double-blinded, randomized study. After ≥ 3 days of parenteral study therapy, patients could be switched to an oral agent. Of 271 patients who were initially stratified by APN (n = 210) or other cUTIs (n = 61), 66 (48.9%) in the ertapenem group an...

  6. Congenital myopathy with fiber type disproportion

    DEFF Research Database (Denmark)

    Gerdes, A M; Petersen, M B; Schrøder, H D;

    1994-01-01

    A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted...

  7. 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.

  8. Disease: H00788 [KEGG MEDICUS

    Lifescience Database Archive (English)

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

  9. 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

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

    OpenAIRE

    2009-01-01

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

  11. Nursing care of one case with Ehlers-Danlos syndrome%1例Ehlers-Danlos综合征病人的护理

    Institute of Scientific and Technical Information of China (English)

    蔡志敏

    2009-01-01

    @@ Ehlers-Danlos综合征(EDS)又名弹力过渡性皮肤(cutishyperelastica)、皮肤毛细管破裂(dermatorrhexis)、伴皮肤和关节松弛的皮肤毛细管破裂(dermatorrhexis with dermatochala-sis)、弹力皮肤(cutis elastica)等.

  12. 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

  13. Operations MANDREL and GROMMET Events MINUTE STEAK, DIESEL TRAIN, DIANA MIST, MINT LEAF, HUDSON MOON, DIAGONAL LINE, and MISTY NORTH, 12 September 1969 to 2 May 1972

    Science.gov (United States)

    1987-01-30

    weapons effects testing and seismic detection research responsi- bilities (VELA UNIFORM) for the Director, DASA. This organiza- tion maintained...1972), on aspects of containment, seismic shock, possible radiation releases, weather, and area control plans pertinent to that particular test...Associates and Hanford Cutie Pie Survey Meter (beta and gamma) - Technical Associates Juno Survey Meter (alpha, beta, and gamma) - Precision

  14. 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.

  15. 77 FR 11133 - Draft Guidance for Industry on Complicated Urinary Tract Infections: Developing Drugs for...

    Science.gov (United States)

    2012-02-24

    ...The Food and Drug Administration (FDA) is announcing the availability of a draft guidance for industry entitled ``Complicated Urinary Tract Infections: Developing Drugs for Treatment.'' The purpose of this guidance is to assist sponsors in the clinical development of drugs for the treatment of complicated urinary tract infections (cUTIs). Specifically, this guidance addresses FDA's current......

  16. Microstructural Evolution of Infrared Brazed CP-Ti Using Ti-Cu-Ni Brazes

    Institute of Scientific and Technical Information of China (English)

    C.T.Chang; T.Y.Yeh; R.K.Shiue; C.S.Chang

    2011-01-01

    Microstructural evolution of infrared vacuum brazed CP-Ti using two Ti-based braze alloys, Ti-15Cu-15Ni and Ti-15Cu-25Ni, has been investigated. The infrared braze d joint consisted of eutectic Ti2Cu/Ti2Ni intermetallic compounds and Ti-rich matrix. The eutectic Ti2Cu/Ti2Ni intermetallic compounds disappeared from the joint after being annealed at 900℃ for 1 h. In contrast, the depletion rate of both Cu and Ni from the braze alloy into CP-Ti substrate at 750℃ annealing was greatly decreased as compared with that annealed at 900℃. Blocky Ti2Cu/Ti2Ni phases were observed even if the specimen was annealed at 750℃ for 15 h. Because the Ni content of the Ti-15Cu-25Ni braze alloy is much higher than that of the Ti-15Cu-15Ni alloy, the amount of eutectic Ti2Cu/Ti2Ni phases in Ti-15Cu-25Ni brazed joint is more than that in Ti-15Ci-15Ni brazed joint. However, similar microstructural evolution can be obtained from the infrared brazed joint annealed at various temperatures and/or time for both filler metals.

  17. Cross-sectional imaging of complicated urinary infections affecting the lower tract and male genital organs

    Directory of Open Access Journals (Sweden)

    Massimo Tonolini

    2016-06-01

    Full Text Available Abstract Complicated urinary tract infections (C-UTIs are those associated with structural or functional genitourinary abnormalities or with conditions that impair the host defence mechanisms, leading to an increased risk of acquiring infection or failing therapy. C-UTIs occur in patients with risk factors such as neurogenic dysfunction, bladder outlet obstruction, obstructive uropathy, bladder catheterisation, urologic instrumentation or indwelling stent, urinary tract post-surgical modifications, chemotherapy- or radiation-induced damage, renal impairment, diabetes and immunodeficiency. Multidetector CT and MRI allow comprehensive investigation of C-UTIs and systemic infection from an unknown source. Based upon personal experience at a tertiary care hospital focused on the treatment of infectious illnesses, this pictorial essay reviews with examples the clinical features and cross-sectional imaging findings of C-UTIs affecting the lower urinary tract and male genital organs. The disorders presented include acute infectious cystitis, bladder mural abscesses, infections of the prostate and seminal vesicles, acute urethritis and related perineal abscesses, funiculitis, epididymo-orchitis and scrotal abscesses. Emphasis is placed on the possible differential diagnoses of lower C-UTIs. The aim is to provide radiologists greater familiarity with these potentially severe disorders which frequently require intensive in-hospital antibiotic therapy, percutaneous drainage or surgery. Teaching Points • Complicated urinary tract infections occur in patients with structural or functional risk factors. • CT and MRI comprehensively investigate complicated urinary infections and sepsis from unknown sources. • Infections of the urinary bladder, prostate, seminal vesicles, urethra and scrotum are presented. • Emphasis is placed on differential diagnoses of complicated lower urogenital infections. • Unsuspected urinary infections may be detected on CT

  18. Application of Fluoroquinolone Resistance Score in Management of Complicated Urinary Tract Infections.

    Science.gov (United States)

    Shah, Ansal; Justo, Julie Ann; Bookstaver, P Brandon; Kohn, Joseph; Albrecht, Helmut; Al-Hasan, Majdi N

    2017-02-13

    The fluoroquinolone resistance score (FQRS) predicts the probability of fluoroquinolone resistance with good discrimination. The score has been derived in patients with gram-negative bloodstream infections based on fluoroquinolone use within the past 6 months among other clinical and healthcare exposure criteria. This study aims to examine the utility of the FQRS in complicated urinary tract infections (cUTI) and determine whether extension of prior fluoroquinolone use to 12 months improves model discrimination. Adults with cUTI at Palmetto Health in central South Carolina, USA from April 1, 2015 through July 31, 2015 were prospectively identified. Multivariate logistic regression was used to examine the association between prior fluoroquinolone use and resistance. Among 238 patients, 54 (23%) had cUTI due to fluoroquinolone-resistant bacteria. Overall, the median age was 66 years, 151 (63%) were women and 137 (58%) had cUTI due to Escherichia coli Prior exposure to fluoroquinolones within 3 months (adjusted odds ratio [aOR] 23.4, 95% confidence intervals [CI]: 8.2-76.8, p<0.001) and within 3-12 months (aOR 13.2, 95% CI: 3.1-68.4, p<0.001) was independently associated with fluoroquinolone resistance as compared to no prior use. Area under receiver operating characteristic curve for the FQRS increased from 0.73 to 0.80 when prior fluoroquinolone use was extended from 6 to 12 months. FQRS ≥2 and ≥3 had negative predictive values of 91% and 90%, respectively. The modified FQRS stratifies patients with cUTI based on predicted probability of fluoroquinolone resistance with very good discrimination. Application of the modified FQRS may improve antimicrobial utilization in patients with acute pyelonephritis.

  19. Agenesis of the lung--a rare congenital anomaly of the lung.

    Science.gov (United States)

    De, Arun

    2013-01-01

    Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of chronic lung infection for any congenital abnormality of the lung including aplasia of the lung. This case also emphasizes that mildness of the attack does not exclude right sided aplasia of the lung.

  20. Agenesis of the Lung: A Rare Congenital Anomaly of the Lung

    Directory of Open Access Journals (Sweden)

    Arun De

    2013-01-01

    Full Text Available Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of chronic lung infection for any congenital abnormality of the lung including aplasia of the lung. This case also emphasizes that mildness of the attack does not exclude right sided aplasia of the lung.

  1. 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.)

  2. 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)

  3. 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

  4. 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.

  5. Disease: H00464 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ndrome; Ear-patella-short statute syndrome Patella dysplasias are a group of disorders that include aplasia/hypoplasia...oplasia: a rare constituent of congenital syndromes. Acta Orthop Belg 69:29-34 (200... the nail-patella syndrome. Pediatr Radiol. 27:432-5 (1997) PMID:12666288 (description) Sferopoulos NK, Tsitouridis I Ischiopubic hyp

  6. 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

  7. Laparoscopy in 100 consecutive patients with 128 impalpable testes

    DEFF Research Database (Denmark)

    Cortes, D; Thorup, J M; Lenz, K

    1995-01-01

    neoplasia (carcinoma in situ) was found. Germ cell hypoplasia or aplasia was demonstrated in 95% of patients with testicular parenchyma. Additional diagnoses were made in 49% of patients with bilaterally undescended testes (one or both of which were impalpable). CONCLUSION: We recommend laparoscopy...

  8. Laparoskopi af 100 konsekutive patienter med 128 ikkepalpable testes

    DEFF Research Database (Denmark)

    Cortes, D; Thorup, J M; Lenz, K

    1996-01-01

    . No intratubular germ cell neoplasia (carcinoma in situ) was proved. Germ cell hypoplasia or aplasia was demonstrated in 95% of cases with testicular parenchyma. We recommend laparoscopy as a safe procedure which leads to a diagnosis in patients with impalpable testes; the advent of laparoscopic procedure makes...

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

    DEFF Research Database (Denmark)

    Mølsted, Kirsten; Boers, Maria; Kjaer, Inger

    2010-01-01

    . The deviations were mostly in the posterior part of the dorsum sellae. Individuals with VCFS had increased cranial base angles. The results of this study combined with the information in the literature on the main defects in VCFS (palatal abnormalities, cardiac anomalies, thymic hypoplasia or aplasia...

  10. Cleidocranial dysostosis: a report on two familial cases

    Directory of Open Access Journals (Sweden)

    Carlos Guilherme Gaelzer Porciuncula

    2013-12-01

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

  11. Bilateral duplication of the internal auditory canal

    Energy Technology Data Exchange (ETDEWEB)

    Weon, Young Cheol; Kim, Jae Hyoung; Choi, Sung Kyu [Seoul National University College of Medicine, Department of Radiology, Seoul National University Bundang Hospital, Seongnam-si (Korea); Koo, Ja-Won [Seoul National University College of Medicine, Department of Otolaryngology, Seoul National University Bundang Hospital, Seongnam-si (Korea)

    2007-10-15

    Duplication of the internal auditory canal is an extremely rare temporal bone anomaly that is believed to result from aplasia or hypoplasia of the vestibulocochlear nerve. We report bilateral duplication of the internal auditory canal in a 28-month-old boy with developmental delay and sensorineural hearing loss. (orig.)

  12. Holt Oram syndrome: a registry-based study in Europe

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth

    2014-01-01

    were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were...

  13. 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

  14. 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...

  15. Increasing Access to Modern Multidisciplinary Breast Cancer Care

    Science.gov (United States)

    1999-08-01

    less common breast tumors (tubular, medullary , papillary, mucinous). The good news is that the less common tumors are easier to cure. Often women who...Ratio 95% Cl hematological toxicity reached WHO grade 3-4 in 69% of cycles for neutrope- I nia, with 5 febrile aplasia but without anemia and

  16. AFRRI Reports, Third Quarter 1994

    Science.gov (United States)

    1994-10-01

    provided indirect evidence that reconstitution of medullary and extramedullary hematopoiesis after sublethal irradia- tion is mediated by...hemopoietic aplasia . Exp. Hematol. 21:338. 10. Schuening. F. G., F. R. Appelbaum, H. J. Deeg, M. Sullivan-Pepe, T. C Graham, R. Hackman, K. M. Zsebo

  17. Gene Expression of Hematoregulatory Cytokines is Elevated Endogenously After Sublethal Gamma Irradiation and is Differentially Enhanced by Therapeutic Administration of Biologic Response Modifiers

    Science.gov (United States)

    1994-01-01

    reconstitution of medullary Days After Irradiation and extramedullary hematopoiesis after sublethal irradia- FIGURE 7. Comparative elects of BRMs on 30-day...stimulating factor on recovery from radiation-induced hcmopoi,:tic Other studies have documented the absence of myeloid aplasia . EAp. henatoL 21:33W

  18. Publications and Technical Reports of the United States Army Research Institute of Environmental Medicine, 1961-1992

    Science.gov (United States)

    1992-09-30

    1092-1095, 1975. 427. Steffin, M. An oxygen dependent current in aplasia neurons: An approach to the question of cellular hypoxic adaptation... medullary response patterns. Journal of Avplied Phvsiologv, 70:8-14, 1991. 1167. Kraemer, W.J., S.E. Gordon, S.J. Fleck, L.J. Marchitelli, R. Mello, J.E

  19. The Effect of Irradiation on Bone Remodelling and the Structural Integrity of the Vertebral Column

    Science.gov (United States)

    1990-01-01

    1965. Schantz, A, AL Schiller and SP Kadish. Localized aplasia in irradiated vertebral bone marrow: A frequently overlooked gross observation. Arch...undergo the bone remodelling sequence together bone marrow-the soft, fatty substance filling the medullary cavaties and spongy extremities of the long

  20. 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

  1. 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

  2. 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

  3. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

    NARCIS (Netherlands)

    Munnik, S.A. de; Bicknell, L.S.; Aftimos, S.; Al-Aama, J.Y.; Bever, Y. Van; Bober, M.B.; Clayton-Smith, J.; Edrees, A.Y.; Feingold, M.; Fryer, A.; Hagen, J.M. van; Hennekam, R.C.M.; Jansweijer, M.C.E.; Johnson, D.; Kant, S.G.; Opitz, J.M.; Ramadevi, A.R.; Reardon, W.; Ross, A.; Sarda, P.; Schrander-Stumpel, C.T.R.M.; Schoots, J.; Temple, I.K.; Terhal, P.A.; Toutain, A.; Wise, C.A.; Wright, M.; Skidmore, D.L.; Samuels, M.E.; Hoefsloot, L.H.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, M.H.F.

    2012-01-01

    Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identifi

  4. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    NARCIS (Netherlands)

    Bongers, M.H.F.

    2006-01-01

    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The el

  5. Meier-Gorlin syndrome: report of eight additional cases and review.

    NARCIS (Netherlands)

    Bongers, M.H.F.; Opitz, J.M.; Fryer, A.; Sarda, P.; Hennekam, R.C.M.; Hall, B.D.; Superneau, D.W.; Harbison, M.; Poss, A.; Bokhoven, J.H.L.M. van; Hamel, B.C.J.; Knoers, N.V.A.M.

    2001-01-01

    The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and postnatal growth retardation. Twenty-one cases have been reported in

  6. 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.

  7. Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway

    NARCIS (Netherlands)

    Heijnen, Harry F; van Wijk, Richard; Pereboom, Tamara C; Goos, Yvonne J; Seinen, Cor W; van Oirschot, Brigitte A; van Dooren, Rowie; Gastou, Marc; Giles, Rachel H; van Solinge, Wouter; Kuijpers, Taco W; Gazda, Hanna T; Bierings, Marc B; Da Costa, Lydie; MacInnes, Alyson W

    2014-01-01

    Mutations affecting the ribosome lead to several diseases known as ribosomopathies, with phenotypes that include growth defects, cytopenia, and bone marrow failure. Diamond-Blackfan anemia (DBA), for example, is a pure red cell aplasia linked to the mutation of ribosomal protein (RP) genes. Here we

  8. Pulsatile enophthalmos, severe esotropia, kinked optic nerve and visual loss in neurofibromatosis type-1

    Directory of Open Access Journals (Sweden)

    Virender Sachdeva

    2015-01-01

    Full Text Available Neurofibromatosis Type I if associated with aplasia of greater wing of sphenoid may be associated with a pulsatile exophthalmos. However, very rarely it may be associated with a pulsatile enophthalmos. This clinical image describes a rare presentation with pulsatile enophthalmos, esotropia and kinking of the optic nerve due to neurofibomatosis type I.

  9. 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.

  10. Spontaneous Perforation of Pyometra

    OpenAIRE

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

    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...

  11. 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.

  12. Modeling Prosopagnosia

    OpenAIRE

    Stollhoff, Rainer

    2010-01-01

    Prosopagnosia is defined as a profound deficit in facial identification which can be either acquired due to brain damage or is present from birth, i.e. congenital. Normally, faces and objects are processed in different parts of the inferotemporal cortex by distinct cortical systems for face vs. object recognition, an association of function and location. Accordingly, in acquired prosopagnosia locally restricted damage can lead to specific deficits in face recognition. However, in congenita...

  13. 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.

  14. 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.

  15. [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.

  16. Congenital inner ear malformation: three dimensional volume rendering image using MR CISS sequence

    Energy Technology Data Exchange (ETDEWEB)

    Song, Jong Woon; Lee, In Sook; Kim, Hak Jin; Goh, Eui Kyung; Kim, Lee Suk [College of Medicine, Pusan National Univ., Pusan (Korea, Republic of)

    2003-10-01

    To evaluate three-dimensional volume-rendering of congenital inner-ear malformations using the MR CISS(Constructive Interference in Steady State) sequence. MR CISS images of 30 inner ears of 15 patients (M:F=10.5; mean age, 6.5years) in whom inner-ear malformation was suspected were obtained using a superconducting Magnetom Vision System (Simens, Erlangen, Germany), with TR/TE/FA parameters of 12.25 ms/5.9 ms/70.deg.. The images obtained were processed by means of the volume rendering technique at an advanced workstation (Voxtol 3.0.0; GE Systems, advanced workstation, volume analysis). The cochlea and three semicircular canals were morphologically evaluated. Volume-rendered images of 25 inner ears of 13 patients demonstrated cochlear anomalies in the form of incomplete partition (n=18), hypoplasia (n=2), and severe hypoplasia (n=5). For the superior semicircular canal, findings were normal in 15 ears, though common crus aplasia (n=6), hypoplasia (n=4), aplasia (n=3), and a short and broad shape (n=2) were also observed. The posterior semicircular canal of 13 ears was normal, but common crus aplasia (n=6), a short and broad shape (n=5), aplasia (n=4), hypoplasia (n=3) were also identified. Twelve lateral semicircular canals, were normal, but other images depicted a short and broad shape (n=7), a dilated crus (n=5), a broad shape (n=4), and aplasia (n=2). In 14 patients the anomalies were bilateral, and in seven, the same anomalies affected both ears. Three-dimensional volume rendering images of the inner ear depicted various morphological abnormalities of the cochlea and semicircular canals. At that locations, anomalies were more complicated and varied than in the cochlea. Three-dimensional volume rendering imaging using the MR CISS technique provides anatomical information regarding the membranous labyrinth, and we consider this useful in the evaluation of congenital inner ear malformations.

  17. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Offiah, Amaka C. [Institute of Child Health, 30 Guilford Street, London (United Kingdom); Department of Radiology, Great Ormond Street Hospital for Children, London WC1 N 3JH (United Kingdom); Cornette, Luc [Peter Congdon Neonatal Intensive Care Unit, Clarendon Wing, Leeds General Infirmary, Leeds (United Kingdom); Hall, Christine M. [Department of Radiology, Great Ormond Street Hospital for Children, London WC1 N 3JH (United Kingdom)

    2003-07-01

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

  19. 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.

  20. Microstructure and Service Properties of Copper Alloys

    Directory of Open Access Journals (Sweden)

    Polok-Rubiniec M.

    2016-09-01

    Full Text Available This elaboration shows the effect of combined heat treatment and cold working on the structure and utility properties of alloyed copper. As the test material, alloyed copper CuTi4 was employed. The samples were subjected to treatment according to the following schema: 1st variant – supersaturation and ageing, 2nd variant – supersaturation, cold rolling and ageing. The paper presents the results of microstructure, hardness, and abrasion resistance. The analysis of the wipe profile geometry was realized using a Zeiss LSM 5 Exciter confocal microscope. Cold working of the supersaturated solid solution affects significantly its hardness but the cold plastic deformation causes deterioration of the wear resistance of the finally aged CuTi4 alloy.

  1. 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

  2. Pasárgada enegrecida: encruzilhando as poéticas brasileiras e cabo-verdianas

    Directory of Open Access Journals (Sweden)

    Ricardo Silva Ramos de Souza

    2014-12-01

    Full Text Available O presente artigo propõe um estudo comparativo a partir da exposição de pontos de vista das autorias negras nas literaturas brasileira e cabo-verdiana, apresentando nos poemas dos brasileiros Cuti e Éle Semog e dos cabo-verdianos, José Luis Hopffer C. Almada e Abraão Vicente, temáticas que valorizem os negros, sinalizem problemas do cânone literário, revisem a história oficial, critiquem a memória coletiva e o projeto de identidade homogênea dos seus países, e como a discriminação racial atua na subjetividade dos corpos negros. O suporte teórico é formado, dentre outros, por Carlos Moore, Kabengele Munanga, Stuart Hall, Cuti, Jesus Chucho García, Jurandir Freire Costa, Michael Pollak e Frantz Fanon.

  3. Clinical Investigation Program: Annual Progress Report

    Science.gov (United States)

    1992-09-30

    Failure ....... 82 90/124 C The Effectiveness of Octreotide (Sandostatin*) to Prevent Pancreatitis Caused by Endoscopic Pancreacto- Biliary Procedures: A...203 T Cryoprecipitate in the Treatment of Seroma . 275 92/204 0 Effect of Intravenous Erythromycin on Post- Operative Ileus ...JE: Cutaneous sarcoidal granulo- mas in a patient with primary biliary cirrhosis. Cutis 49:271- 274, 1992. Homas PB, David-Bajar KM, Fitzpatrick JE

  4. „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!

  5. Medical image of the week: CREST plus ILD

    OpenAIRE

    Oliva I; Knox KS

    2013-01-01

    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 predomi...

  6. Microstructure and Service Properties of Copper Alloys

    OpenAIRE

    Polok-Rubiniec M.; Konieczny J.; Labisz K.; Włodarczyk-Fligier A.

    2016-01-01

    This elaboration shows the effect of combined heat treatment and cold working on the structure and utility properties of alloyed copper. As the test material, alloyed copper CuTi4 was employed. The samples were subjected to treatment according to the following schema: 1st variant – supersaturation and ageing, 2nd variant – supersaturation, cold rolling and ageing. The paper presents the results of microstructure, hardness, and abrasion resistance. The analysis of the wipe profile geometry was...

  7. Assoziation einer HIV-Infektion mit ausgewählten Hauterkrankungen unter besonderer Berücksichtigung des Immunstatus

    OpenAIRE

    2013-01-01

    Ziele: I. Prävalenzermittlung spezifischer Hauterkrankungen bei HIV-Patienten. II. Zusammenhänge zwischen der Immunsuppression u. dem Auftreten einer atopischen bzw. seborrhoischen Dermatitis sowie der Psoriasis. III. Klinische Bedeutung der Xerosis cutis, eines Pruritus u. des Gesamt-IgEs. Methoden: Bei 196 HIV-Patienten kamen neben der klinischen Inspektion u. der Erfassung laborchemischer Parameter, standardisierte Diagnostik-bzw. Schweregradscores zum Einsatz. Ergebnisse: E...

  8. Terra firma-forme dermatosis

    OpenAIRE

    2013-01-01

    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...

  9. 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...

  10. Ceftolozane/Tazobactam: A Review in Complicated Intra-Abdominal and Urinary Tract Infections.

    Science.gov (United States)

    Scott, Lesley J

    2016-02-01

    Globally, the increasing prevalence of multidrug-resistant pathogens continues to pose major problems in healthcare systems and, at least in part, is driving an initiative to develop new antibacterials, such as ceftolozane (a cephalosporin β-lactam). Adding a β-lactamase inhibitor (e.g. tazobactam) to a β-lactam extends its spectrum of activity against β-lactamase-producing microorganisms (a key mechanism of resistance to β-lactams). Ceftolozane/tazobactam (Zerbaxa™), a β-lactam/β-lactamase inhibitor combination, is indicated for the treatment of adults with complicated intra-abdominal infections (cIAI) or complicated urinary tract infections (cUTI), including pyelonephritis. In multinational, phase 3 noninferiority trials, intravenous ceftolozane/tazobactam was an effective and generally well tolerated treatment in patients with cIAI or cUTI. In the ASPECT-cIAI trial, ceftolozane/tazobactam plus metronidazole was noninferior to meropenem in terms of clinical cure rates at the test-of-cure (TOC) visit, with clinical cure rates in subgroup analyses consistent with those in the primary analysis. In the ASPECT-cUTI trial, ceftolozane/tazobactam was superior to levofloxacin in terms of composite cure rates (clinical cure plus microbiological eradiation) at the TOC visit. Further clinical experience should help to more definitively position ceftolozane/tazobactam in the treatment of cIAI and cUTI, including in patients with renal impairment. In the meantime, given its very good in vitro activity against extended-spectrum β-lactamase-producing Enterobacteriaceae and drug-resistant Pseudomonas aeruginosa isolates, ceftolozane/tazobactam provides a potential alternative to currently approved antibacterials for empirical treatment of cIAI and cUTI in adults.

  11. Studies on kinetics of albumin in uraemic patients on chronic haemodialysis: evidence of interstitial albumin wash-down

    DEFF Research Database (Denmark)

    Hildebrandt, P; Jensen, H A; Henriksen, Jens Henrik Sahl

    1983-01-01

    filtration of albumin in microcirculatory beds with permeable capillaries (splanchnic organs), in between the haemodialysis treatment, and filtration of protein-poor fluid in areas with 'tight' capillaries (skeletal muscle, cutis) resulting in interstitial space protein depletion here. As the patients were...... considered to be in steady state during the measurements, the increased TERalb indicates increased lymph flux of albumin. The interstitial space protein 'wash-down' and increased lymph drainage probably serve as oedema prevention....

  12. Density functional theory studies on the structural and physical properties of Cu-doped anatase TiO2(101) surface

    Science.gov (United States)

    Zhang, Wei; Yin, Jiu-Ren; Tang, Xian-Qiong; Zhang, Ping; Ding, Yan-Huai

    2017-01-01

    Structure and physical properties of anatase TiO2 (101) surface doped with copper have been studied by using density functional theory. Results show that Cu@Ti and Cu@O systems behave as p and n type semiconductors, respectively. Anatase TiO2 (101) surface exhibits a blue shift in optical absorption spectra compared with pure TiO2 bulk materials. Enhanced photocatalytic activity at wavelength around 400 nm could be contributed by the change in electronic structure.

  13. CREST syndrome and periodontal surgery: a case report.

    Science.gov (United States)

    Stanford, T W; Peterson, J; Machen, R L

    1999-05-01

    CREST syndrome is a slowly progressive form of systemic scleroderma. It is characterized by calcinosis cutis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia. There are limited reports of dental treatment for patients with this syndrome, and no reports of periodontal surgical procedures. This paper presents a case report of periodontal surgical treatment in a 38-year-old female patient with CREST syndrome, and a discussion of the clinical manifestations of the syndrome as they relate to dental treatment.

  14. 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.

  15. Comparison of ertapenem and ceftriaxone therapy for acute pyelonephritis and other complicated urinary tract infections in Korean adults: a randomized, double-blind, multicenter trial.

    Science.gov (United States)

    Park, Dae Won; Peck, Kyong Ran; Chung, Moon Hyun; Lee, Jin Seo; Park, Yoon Soo; Kim, Hyo Youl; Lee, Mi Suk; Kim, Jung Yeon; Yeom, Joon Sup; Kim, Min Ja

    2012-05-01

    The efficacy and safety of ertapenem, 1 g once daily, were compared with that of ceftriaxone, 2 g once daily, for the treatment of adults with acute pyelonephritis (APN) and complicated urinary tract infections (cUTIs) in a prospective, multicenter, double-blinded, randomized study. After ≥ 3 days of parenteral study therapy, patients could be switched to an oral agent. Of 271 patients who were initially stratified by APN (n = 210) or other cUTIs (n = 61), 66 (48.9%) in the ertapenem group and 71 (52.2%) in the ceftriaxone group were microbiologically evaluable. The mean duration of parenteral and total therapy, respectively, was 5.6 and 13.8 days for ertapenem and 5.8 and 13.8 days for ceftriaxone. The most common pathogen was Escherichia coli. At the primary efficacy endpoint 5-9 days after treatment, 58 (87.9%) patients in the ertapenem group and 63 (88.7%) in the ceftriaxone had a favorable microbiological response. When compared by stratum and severity, the outcomes in the two groups were equivalent. The frequency and severity of drug-related adverse events were generally similar in both treatment groups. The results indicate that ertapenem is highly effective and safe for the treatment of APN and cUTIs.

  16. Phenomenological thermodynamics and the structure formation mechanism of the CuTi₂S₄ rhombohedral phase.

    Science.gov (United States)

    Talanov, Michail V; Shirokov, Vladimir B; Talanov, Valery M

    2016-04-21

    The theory of structural phase transition in CuTi2S4 is proposed. The symmetry of order parameters, thermodynamics and the mechanism of the atomic structure formation of the rhombohedral Cu-Ti-thiospinel have been studied. The critical order parameter inducing the phase transition has been found. Within the Landau theory of phase transitions, it is shown that the phase state may change from the high-symmetry cubic disordered Fd3[combining macron]m phase to the low-symmetry ordered rhombohedral R3[combining macron]m phase as a result of phase transition of the first order close to the second order. It is shown that the rhombohedral structure of CuTi2S4 is formed as a result of the displacements of all types of atoms and the ordering of Cu-atoms (1 : 1 order type in tetrahedral spinel sites), Ti-atoms (1 : 1 : 6 order type in octahedral spinel sites), and S-atoms (1 : 1 : 3 : 3 order type). The Cu- and Ti-atoms form metal nanoclusters which are named a "bunch" of dimers. The "bunch" of dimers in CuTi2S4 is a new type of self-organization of atoms in frustrated spinel-like structures. It is shown that Ti-atoms also form other types of metal nanoclusters: trimers and tetrahedra.

  17. 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.

  18. 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...

  19. 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)

  20. 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.

  1. CAR T-cells merge into the fast lane of cancer care.

    Science.gov (United States)

    Frey, Noelle V; Porter, David L

    2016-01-01

    Chimeric antigen receptors (CARs) can be introduced into T-cells redirecting them to target specific tumor antigens. CAR-modified T cells targeting CD19 have shown remarkable activity against CD19+ malignancies including B cell acute lymphocytic leukemia (ALL), chronic lymphocytic leukemia (CLL), and non-Hodgkin lymphomas (NHL). Complete remission rates as high as 90% have been observed for patients with relapsed and refractory ALL and greater than 50% response rates have been seen in heavily pre-treated CLL and NHL. Excitingly, some remissions have been durable without any additional therapy, a finding which correlates with in-vivo T-cell persistence and B-cell aplasia. The major treatment related toxicities include B-cell aplasia, neurologic toxicities, and a potentially severe cytokine release syndrome. This review summarizes outcomes for patients treated with CD19-CAR T-cells while exploring the field's challenges and future directions.

  2. Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.

    Science.gov (United States)

    Ceylaner, S; Ceylaner, G; Altun, M; Coşkun, A; Danisman, N

    2009-01-01

    We report here a female fetus with anencephaly, omphalocele and unilateral radial aplasia. The combination of two of these three malformations were reported in a number of patients diagnosed as Gershoni-Barush syndrome, ORR phenotype, VATER association, Schisis association, OEIS complex, Schinzel phocomelia syndrome and Acalvaria but they have not been reported all together in the same patient up to date. We hypothesize that, some or all these syndromes given above may be related etiologically.

  3. 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.).

  4. 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.

  5. Creation of a Neovagina by Laparoscopic Modified Vecchietti Technique: Anatomic and Functional Results.

    Science.gov (United States)

    Baptista, Eduardo; Carvalho, Giselda; Nobre, Carlos; Dias, Isabel; Torgal, Isabel

    2016-09-01

    Purpose To evaluate the anatomic and functional results of a laparoscopic modified Vecchietti technique for the creation of a neovagina in patients with congenital vaginal aplasia. Methods Retrospective study of nine patients with congenital vaginal aplasia submitted to the laparoscopic Vecchietti procedure, in our department, between 2006 and 2013. The anatomical results were evaluated by assessing the length, width and epithelialization of the neovagina at the postoperative visits. The functional outcome was evaluated using the Rosen Female Sexual Function Index (FSFI) questionnaire and comparing the patients' results to those of a control group of 20 healthy women. The statistical analysis was performed using SPSS Statistics version 19.0 (IBM, Armonk, NY, USA), Student t-test, Mann-Whitney U test and Fisher exact test. Results The condition underlying the vaginal aplasia was Mayer-Rokitansky-Küster-Hauser syndrome in eight cases, and androgen insensitivity syndrome in one case. The average preoperative vaginal length was 2.9 cm. At surgery, the mean age of the patients was 22.2 years. The surgery was performed successfully in all patients and no intra or postoperative complications were recorded. At the first postoperative visit (6 to 8 weeks after surgery), the mean vaginal length was 8.1 cm. In all cases, the neovagina was epithelialized and had an appropriate width. The mean FSFI total and single domain scores did not differ significantly from those of the control group: 27.5 vs. 30.6 (total); 4.0 vs. 4.2 (desire); 4.4 vs. 5.2 (arousal); 5.2 vs. 5.3 (lubrication); 4.2 vs. 5.0 (orgasm); 5.3 vs. 5.5 (satisfaction) and 4.4 vs. 5.4 (comfort). Conclusions This modified laparoscopic Vecchietti technique is a simple, safe and effective procedure, which allows patients with congenital vaginal aplasia to have a satisfactory sexual activity, comparable to that of normal controls.

  6. Medical imaging for congenital anomalies of the lung. Focused on tracheobronchial and parenchymal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Kohda, Ehiichi; Shiraga, Nobuyuki; Higuchi, Mutsumi; Ishibashi, Ryouchi [Tachikawa Hospital, Tokyo (Japan)

    2003-02-01

    This is a review of medical imaging studies for congenital anomalies of the lung focused on tracheobronchial and parenchymal anomalies. It is important to know the findings of these developmental anomalies, because they are frequently manifested as infectious diseases or mass. Documented details are pulmonary agenesis, aplasia, pulmonary hypoplasia, tracheal agenesis, bridging bronchus, tracheal bronchus, congenital tracheal stenosis, bronchial atresia, bronchobiliary fistula, bronchogenic cyst, bronchopulmonary sequestration, congenital cystic adenomatoid malformation, and pulmonary lymphangiectasia. (author)

  7. [Computed tomography and magnetic resonance imaging of congenital abnormalities of the temporal bone].

    Science.gov (United States)

    Czerny, C; Gstöttner, W; Imhof, H

    2003-03-01

    Congenital abnormalities of the temporal bone are mostly accompanied by conductive or sensori-neural hearing loss. Before any therapeutic procedures are done high resolution CT (HRCT) and magnetic resonance imaging (MRI) should be performed to establish the correct diagnosis and to plan the potentially surgical intervention. HRCT best depicts osseous changes especially those of the external auditory canal and the middle ear containing the ossicles and the osseous structures of the temporal bone and the petrous bone containing the inner ear. MRI excellently shows soft tissue changes of the inner ear especially on the high resolution 3DT2-weighted sequences which give a superb contrast between the nerves and the cerebro-spinal fluid. Malformations of the external auditory canal consists of aplasia or hypoplasia and those of the middle ear range form extreme hypoplasia or aplasia to very mild deformations of the ossicles. Malformations of the inner ear also range form complete aplasia to very mild hypoplasia of the organs of the inner ear as well as malformations concerning the nerves in the internal auditory canal range from aplasia to hypoplasia. Malformations of the temporal bone can either occur isolated or in combination in which malformations of the external and middle ear may be accompanied by those of the inner ear. Furthermore, malformations of the temporal bone may also occur in otofacial, otocervical or otoskeletal syndromes. These syndromes may be accompanied by certain malformations of the temporal bone. HRCT and MRI are both excellent methods to depict congenital abnormalities of the temporal bone and of the inner ear and should be used as complementary methods because HRCT best depicts osseous changes and MRI superbly depicts soft tissue changes. Both methods are important to establish the correct diagnosis to plan the therapeutic procedures.

  8. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

    Science.gov (United States)

    Tekin, M; Oztürkmen Akay, H; Fitoz, S; Birnbaum, S; Cengiz, F B; Sennaroğlu, L; Incesulu, A; Yüksel Konuk, E B; Hasanefendioğlu Bayrak, A; Sentürk, S; Cebeci, I; Utine, G E; Tunçbilek, E; Nance, W E; Duman, D

    2008-06-01

    Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. FGF3 sequence changes were not found in eight unrelated probands with isolated inner ear anomalies or with a cochlear malformation along with auricle and tooth anomalies. We identified two new homozygous FGF3 mutations, p.Leu6Pro (c.17T>C) and p. Ile85MetfsX15 (c.254delT), in four subjects from two unrelated families with LAMM. The p.Leu6Pro mutation occurred within the signal site of FGF3 and is predicted to impair its secretion. The c.254delT mutation results in truncation of FGF3. Both mutations completely co-segregated with the phenotype, and heterozygotes did not have any of the phenotypic findings of LAMM. Some affected children had large skin tags on the upper side of the auricles, which is a distinctive clinical component of the syndrome. Enlarged collateral emissary veins associated with stenosis of the jugular foramen were noted on computerized tomographies of most affected subjects with FGF3 mutations. However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely.

  9. Experiences from Cochlear Implantation and Auditory Brainstem Implantation in Adults and Children : Electrophysiological Measurements, Hearing Outcomes and Patient Satisfaction

    OpenAIRE

    Lundin, Karin

    2016-01-01

    Cochlear implants (CIs) and auditory brainstem implants (ABIs) are prostheses for hearing used in patients with profound hearing impairment. A CI requires an operational cochlear nerve to function in contrast to an ABI. ABIs were initially designed for adult patients with neurofibromatosis type 2 (NF2), suffering from bilateral vestibular schwannomas. Now ABIs are also used for patients, both adults and children, with congenital cochlear malformations, cochlear nerve hypoplasia/aplasia, and c...

  10. 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...

  11. 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide

    OpenAIRE

    Ghosh, Amiya K.; Hurd, Toby; Hildebrandt, Friedhelm

    2012-01-01

    Ciliopathies are a heterogeneous group of diseases that exhibit broad clinical phenotypes, including renal cysts, retinal degeneration, and cerebellar vermis aplasia. Nephronophthisis (NPHP) is a renal ciliopathy that causes chronic kidney disease and is characterized by kidney cysts at the cortico-medullary border. Among the 10 different disease-causing genes (NPHP1-NPHP10), mutations in NPHP3, NPHP6, or NPHP8 cause the most severe ciliopathy variants of NPHP, Joubert syndrome, and Meckel Sy...

  12. AFRRI (Armed Forces Radiobiology Research Institute) Annual Research Report 1 October 1981-30 September 1982.

    Science.gov (United States)

    1982-09-30

    activity were found in the kidney cortex after irradiation, but at 6 hours postirradiation, the values for the medullary Na-dependent, K-ATPase...induced lymphomyelopoietic aplasia and its attendant cellular and hunoral immune dysfunctions. Specific objec- tives include Novel applications of...The splenectomy emphasizes the medullary response to an intraperitoneal injection of 10 p’g Escherichia coli (LPS-W). Significant differences were

  13. Nuclear Weapon Effect Research at PSR (Pacific-Sierra Research Corporation) - 1983. Symptomatology of Acute Radiation Effects in Humans after Exposure to Doses of 75 to 4500 Rads (cGy) Free-in-Air

    Science.gov (United States)

    1984-08-31

    oblongata, the reflex is initiated by chemicals transported in the blood, impulses carried by autonomic fibers from abduminal organs to the medullary ...result not from direct radiation effects on the nervous system but from chemical compounds acting mainly on the medullary trigger zone.ý It is thought... aplasia and subsequent pancytopenia. References 14, 85. References 7, 65, 107. tReferences 13, 85. Reference 16. t t References 42, 50, 65, 81

  14. Annual Research Progress Report. Fiscal Year 1989. Volume 1

    Science.gov (United States)

    1989-10-01

    Patients Suspected of Having Pheochromocytoma, Paraganglioma or Medullary Hyperplasia. (0) C-58-89 Neuroimaging in Tourette Syndrome. (See C-57-89) (0...Assessment of Difluorodeoxycytidine (LY188011). Am. Soc. Clin. Onc., May 1989. (C) Vukelja, S.J., Kirshnan, J., et al. Resolution of Pure Red Cell Aplasia ...Evaluation of 13il-miBG ( Ji-meta-iodobenzylguanidine sulfate) in Patients Suspected of Having Pheochromocytoma, Paraganglioma or Medullary Hyperplasia

  15. AFRRI (Armed Forces Radiobiology Research Institute) Reports, January-March 1985

    Science.gov (United States)

    1985-01-01

    stains for cell sorting 56 genesis 213 Anticoagulants long-term hematopoiesis, role :472 granulocytic diffeentiation 56 medullary vs.extramedullary 215...functional ability of the mononuclear and macro- phage progeny of the M-CFC derived from the bone marrow and extra- medullary sources. The point to be...hemopoictic aplasia , the implications vival2’. The exact correlation between giucan’s hemo- and possible applications of glueall treatment are in- poietic

  16. USAFSAM Review and Analysis of Radiofrequency Radiation Bioeffects Literature. Fifth Report.

    Science.gov (United States)

    1985-03-01

    and the associated defects of protruding 0 tongue and aplasia of the upper cranial bones were evident in 17-22% of the fetuses; and other severe...focal vascular congestion. The cut surfaces of the kidneys showed congestion at the cortico- medullary junction and in the medulla. One tumor, a nodular...hypothalamic and medullary temperatures always above corresponding colonic temperatures. The plotted temperature data (brain vs colonic temperature) indicate a

  17. A Literature Review - Problem Definition Studies on Selected Toxic Chemicals. Volume 3. Occupational Health and Safety Aspects of 2,4,6-Trinitrotoluene (TNT)

    Science.gov (United States)

    1978-04-01

    observed (79). CLINICAL MANIFESTATIONS OF’TNT TOXICITY The main pathological manifestations of TNT toxicity are acute yellow atrophy of the liver, aplasia ...epithelium of the convuluted tubules. Straight tubules in the medullary zone contained brownish material. No fat globules were observed in the glomerult...heavily loaded with fat globules; the medullary portion, on the other hand, contained some brownish material which did not stain as hemosiderin. No

  18. 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

  19. Bone Marrow Transplantation for Severe Aplastic Anemia Secondary to Temozolomide

    OpenAIRE

    Morris, E. Brannon; Kasow, Kimberly; Reiss, Ulrike; Ellison, David; Broniscer, Alberto

    2008-01-01

    Radiotherapy (RT) and concomitant/adjuvant therapy with temozolomide (Temodar) is a common treatment regimen for children and adults with glioma. Although temozolomide is generally well tolerated with temporary myelosuppression as the primary dose-limiting toxicity, irreversible bone-marrow aplasia after treatment with temozolomide has been reported. We report the case of an adolescent patient with a high-grade glioma who, after > 2 years of event-free survival, underwent successful bone marr...

  20. Bronchiolitis as a feature of kartagener syndrome: a case report.

    Science.gov (United States)

    Ozkaya, Sevket; Sahin, Unal; Gumus, Aziz; Taşç, Filiz; Cnarka, Halit; Yavuz, Asiye

    2011-01-01

    Kartagener syndrome (KS), also known as immotile cilia syndrome or as a primary ciliary dyskinesia, is characterized by the triad of situs inversus, bronchiectasis, and chronic pansinusitis. A few studies reported that diffuse bronchiolitis might be one of the characteristic features of the lung in KS. We aimed to present the radiologic characteristics of KS, including diffuse bronchiolitis, sinus aplasia, and situs inversus totalis in a single case.

  1. Bilateral Carotid and Vertebral Rete Mirabile Presenting with a Prominent Anterior Spinal Artery Mimicking a Spinal Dural AV Fistula at MRI

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Young; Cha, Sang Hoon [Chungbuk National University College of Medicine, Iksan (Korea, Republic of)

    2011-11-15

    Bilateral carotid and vertebral rete mirabile (CVRM) is a very rare condition. We report a new case of CVRM initially detected by magnetic resonance imaging (MRI) of the cervical spine. MRI demonstrated tortuous vascular signal voids limited to the anterior cerebrospinal fluid space mimicking spinal dural arteriovenous fistula. A diagnosis of CVRM was confirmed on the basis of angiographic findings of rete formation associated with bilateral aplasia of the cavernous internal carotid and vertebral arteries without abnormal arteriovenous connection.

  2. Quilopericárdio idiopático

    Directory of Open Access Journals (Sweden)

    Fernandes Fábio

    1998-01-01

    Full Text Available Descrevemos um caso de derrame pericárdico idiopático em que, durante investigação diagnóstica, foi constatado ser um quilopericárdio. A linfografia mostrou aplasia parcial do ducto torácico. Realizamos uma breve revisão da etiopatogenia, quadro clínico, métodos diagnósticos complementares e possibilidades terapêuticas do quilopericárdio.

  3. Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

    OpenAIRE

    Dowton, S B; Hing, A V; Sheen-Kaniecki, V; Watson, M. S.

    1997-01-01

    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defect...

  4. Poland syndrome with absent ribs

    OpenAIRE

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

    2014-01-01

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

  5. Poland syndrome with absent ribs

    Directory of Open Access Journals (Sweden)

    Rupam Kumar Ta

    2014-01-01

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

  6. 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.

  7. 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)

  8. The neuroradiological findings in a case of Revesz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scheinfeld, Meir H. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Montefiore Medical Center, Department of Radiology, Bronx, NY (United States); Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Kolb, Edward A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pediatrics, The Children' s Hospital at Montefiore, Bronx, NY (United States); Engel, Harry M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Ophthalmology, Bronx, NY (United States); Weidenheim, Karen M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pathology, Bronx, NY (United States)

    2007-11-15

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  9. 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...

  10. 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.

  11. Tratamiento de la luxación congénita de cadera inveterada según la técnica de klisic

    OpenAIRE

    Fernández Palazzi, F.; Deseda, C.; Palacio, D.; Goatache, G.

    1993-01-01

    En este trabajo se valoran retrospectivamente un grupo de 15 pacientes, con edades superiores a los 6 años, afectos de luxación congenita inveterada y que fueron intervenidos (16 caderas) mediante la técnica de Klisic. El tiempo medio de seguimiento fue de 4 años. En 12 caderas se habían realizado previamente distintas técnicas quirúrgicas sin obtener resultados satisfactorios. Tras efectuar la técnica de Klisic, 11 caderas presentaban un centraje coxofemoral satisfactorio. Se objetivos necro...

  12. 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.

  13. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

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

  14. 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.

  15. 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.

  16. Literatura e resistência: vozes negras na literatura brasileira

    OpenAIRE

    Sarteschi, Rosangela

    2015-01-01

    Vozes negras no sistema literário brasileiro contam outras histórias, engendrando, assim, diferentes formas de compreender e elaborar o mundo a partir de novas perspectivas históricas e sociais que, ao assumir o comando e a autoria de sua própria escrita, concorrerão para o estabelecimento de um sistema literário baseado na heterogeneidade, na pluralidade e na diversidade. A presente comunicação pretende, portanto, aproximar alguns poemas de Cuti, Conceição Evaristo, Edimilson de Almeida Pere...

  17. [Nicolau syndrome induced by intramuscular injection of a hexavalent vaccine in a 6-month-old girl].

    Science.gov (United States)

    Stefano, Paola C; Garello, Mónica; Nolte, María F; Lamy, Patricia; Giglio, Norberto; Castellano, Vanesa; Gentile, Ángela

    2017-02-01

    Nicolau syndrome, also known as embolia cutis medicamentosa or livedo-like dermatitis, is a sudden tissue necrosis, a rare complication of intramuscular injection of some drugs. We report a case of a 6-month-old girl who received intramuscularly the third dose of hexavalent vaccine (DTaP- HVB-IPV/HIb), and immediately presented a livedoid lesion around the injection site, progressing to necrosis. We reinforce the importance of early diagnosis to perform a suitable treatment and clinical follow-up to avoid ischemic secondary complications.

  18. Microstructural characterization of copper based alloys produced by reactive milling; caracterizacion microestructural de aleaciones base cobre obtenidas mediante molienda reactiva

    Energy Technology Data Exchange (ETDEWEB)

    Palma, R.; Sepulveda, A.; Zuniga, A.; Donoso, E.; Dianez, M. J.; Criado, J. M.

    2010-07-01

    The micro and nano structure of Cu-Al, Cu-V and Cu-Ti alloys produced by reactive milling were analyzed using X-ray diffraction (XRD) and transmission electron microscopy (TEM). Samples with different milling times (t= 0, 10, 20 and 30 h) were considered. The grain size, dislocation density and residual micro strain were evaluated form the XRD data using the Williamson-Hall and Klug-Alexander methods. The evolution of texture as a function of milling time was also studied using XRD. It was found, using TEM, that the grain size and dispersoid size were nano metric in all three alloys considered. (Author) 12 refs.

  19. Cutaneous B-cell chronic lymphocytic leukaemia resembling a granulomatous rosacea.

    Science.gov (United States)

    di Meo, Nicola; Stinco, Giuseppe; Trevisan, Giusto

    2013-10-16

    B-cell chronic lymphocytic leukemia (B-CLL) is a low-grade lymphoproliferative disease. Cutaneous involvement of B-CLL is limited and, in most cases, it represents non-specific manifestations related to an impaired immune system. Leukemic skin infiltrates (leukemia cutis) occur in 4-20% of patients. Herein we report the case of a 65-year-old woman with B-CLL presenting with papular, nodular, and plaque skin infiltrates affecting the nose, mimicking granulomatous rosacea. We discuss several aspects of rare cutaneous manifestations of B-CLL involving the face.

  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.