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Sample records for aplasia cutis congenita

  1. A Rare Case of Aplasia Cutis Congenita

    Directory of Open Access Journals (Sweden)

    Sumita Mehta

    2017-10-01

    Full Text Available Aplasia cutis congenita is a heterogenous group of disorders characterized by the absence of a portion of skin either localized or widespread at birth. Most commonly seen on the scalp (84%, it can affect any part of the body, including the trunk and limbs. We report a case of a baby born with aplasia cutis congenital managed conservatively.

  2. Aplasia Cutis Congenita Association with Fetus Papyraceus

    OpenAIRE

    Ahmet Özdemir; Osman Baştuğ; Serra Alçı

    2015-01-01

    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 tha...

  3. Aplasia cutis congenita with two completely different presentations

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    Sanchaita Bala

    2014-01-01

    Full Text Available Aplasia cutis congenita is a rare disorder, which presents with congenital absence of skin. Besides isolated presentation, it may manifest with other developmental malformation of cardiovascular, gastrointestinal, genitourinary and central nervous systems, and malformation syndromes such as chromosomal abnormalities, Adams-Oliver syndrome, Bart′s syndrome, and Johanson-Bilzzard syndrome. Here, we present two cases of aplasia cutis congenita, which represent two different types of the disease. The first case presented as non-syndromic aplasia cutis congenita of scalp, and the other case presented as a part of Bart′s syndrome.

  4. Aplasia cutis congenita with two completely different presentations

    OpenAIRE

    Sanchaita Bala; Sumit Sen; Atul Jain; Amlan K Biswas

    2014-01-01

    Aplasia cutis congenita is a rare disorder, which presents with congenital absence of skin. Besides isolated presentation, it may manifest with other developmental malformation of cardiovascular, gastrointestinal, genitourinary and central nervous systems, and malformation syndromes such as chromosomal abnormalities, Adams-Oliver syndrome, Bart′s syndrome, and Johanson-Bilzzard syndrome. Here, we present two cases of aplasia cutis congenita, which represent two different types of the disease....

  5. [Aplasia cutis congenita: Update and management].

    Science.gov (United States)

    Belkhou, A; François, C; Bennis, Y; Duquennoy-Martinot, V; Guerreschi, P

    2016-10-01

    Congenital skin aplasia, or aplasia cutis congenita (ACC) is a rare congenital disease. It is characterized by the absence of skin at birth, localized or widespread, of one or several areas. This condition commonly involve the scalp but can also involve more rarely the trunk or limbs. However it is most frequently an isolated disorder, it can be associated with other anomalies, such as the Adams-Oliver syndrome, the association with a fetus papyraceus or with an epidermolysis bullosa. Many hypothesis have been suggested: vascular, genetic, traumatic, pharmacological or an anomaly in the neural tube closure process, but the exact mechanism is still unknown. Morbidity and mortality of this malformation depends on the affected area and the size of the defect. The main risk is the infection, hemorrhage and thrombosis in the case of a scalp defect with an underlying bone defect, the exposure of the meninges and the superior sagittal sinus. The initial management of ACC will therefore involve several plastic surgery techniques, from more simple to more complex, using conservative wound care to flaps techniques. Other techniques can be performed later, in the management of ACC sequelae, such as skin expansion for scarring alopecia. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. [Surgical management of aplasia cutis congenita].

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    Betancourth-Alvarenga, J E; Vázquez-Rueda, F; Vargas-Cruz, V; Paredes-Esteban, R M; Ayala-Montoro, J

    2015-11-01

    Aplasia cutis congenita (ACC) is a rare congenital malformation that commonly involves the scalp, but can affect pericranium, bone and dura mater. Complications are rare, but can be fatal, so early treatment must be achieved. The treatment remains controversial with no consensus between the conservative and surgical approach. The aim of this study is to describe our experience in the management of ACC. Retrospective review of the medical records of all children up to 14 years diagnosed with ACC and treated between 2000 and 2013. There were a total of 22 cases of ACC with lesions ranging from 1cm (0.79 cm(2)) to 14cm (153.94 cm(2)). ACC of the scalp was found in 18 cases, with 3 in extremities and 1 in trunk. Conservative treatment was performed on 9 patients and 13 underwent surgical treatment (8 primary closures, 2 plasties, 2 skin grafts, and 1 skin flap). Two patients died due to complications of other diseases not related with the ACC. ACC is a rare disease that can be fatal. A complete initial assessment to establish early treatment is necessary to prevent this. Surgery should be considered as an initial therapeutic option in defects >4cm (>12.6 cm(2)) as it prevents the risk of fatal complications. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  7. Aplasia cutis congenita: report of 22 cases.

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    Mesrati, Hela; Amouri, Meriem; Chaaben, Hend; Masmoudi, Abdelrahmen; Boudaya, Sonia; Turki, Hamida

    2015-12-01

    Aplasia cutis congenita (ACC) is a rare malformation characterized by absent or scarred areas of skin at birth. Although most commonly found on the scalp, ACC can also involve other locations. Its etiology and pathogenesis remain unclear. To describe the epidemiologic, clinical, therapeutic, and evolutionary aspects of ACC through a hospital series. We conducted a retrospective study from 1995 to 2012 and reported all cases of ACC. We enrolled 22 cases (14 girls and eight boys) of ACC during 18 years. The mean age at diagnosis was 5.7 years. Sixteen ACC involved the scalp, five the trunk, and one the left buttock. ACC was oval-shaped in 20 cases, triangular in one case, and linear in one case. The mean size was 4 cm. ACC was associated with bone defects in two cases, various malformations in eight (37.1%), and with syndromic malformation in three (Adams-Olivier syndrome: two cases; Goltz syndrome: one case). Conservative treatment consisting of wound dressing with vaseline was indicated in six cases. Bone reconstruction was performed in two cases. Regular follow-up and no treatment was recommended in 14 cases. Our study emphasizes the frequent association of ACC with malformations (37.1%) and bone defects (9%). © 2015 The International Society of Dermatology.

  8. Treatment dilemma: conservative versus surgery in cutis aplasia congenita.

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    Bang, R L; Ghoneim, I E; Gang, R K; Al Najjadah, I

    2003-04-01

    Cutis aplasia congenita (CAC), a congenital absence of skin and its appendages, may extend into underlying muscles and bones. The scalp is the commonest site and it may be associated with acrania. CAC presents either as a thin transparent membrane, a black eschar, an ulcer or a healed scar. The dilemma of either immediate surgical management or conservative treatment is much more pronounced in the presence of acrania. Two patients with scalp lesions measuring 12 x 8 cm and 14 x 12 cm respectively and one patient with 4 cm wide circumferential trunk cutis aplasia treated conservatively are presented. The conservative treatment is simple, easy to carry out, and effective even for large defects; therefore, it is recommended in cutis aplasia congenita till complete healing. Surgical interventions such as tissue expansion and resurfacing, contracture release, etc. are for the correction of subsequent deformity at a later date.

  9. A Case of Aplasia Cutis Congenita, Type VII

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    Lee, Joung Sun; Lee, Jee Bum; Kim, Seong Jin; Won, Young Ho

    2008-01-01

    Aplasia cutis congenita (ACC) is a rare congenital defect in which localized or widespread areas of the skin are absent at birth. In the majority of cases, it is limited to the scalp especially on the vertex although other areas of the body may also be involved. Other congenital malformations can be associated with ACC. We present herein the case of a new born male with unilateral absence of skin on the extensor surface of the right lower leg. There was no associated malformation or skin disease such as blistering or nail abnormailty. According to the classification outlined by Frieden, the condition was diagnosed as type VII aplasia cutis congenita. The treatment of this large ulcer was conservative, wet dressing and prophylactic topical antibiotics. On follow up after 2 years showed that the patient was nearly cured of the ulcer and had only minimal scar formation. PMID:27303163

  10. A case of extensive aplasia cutis congenita: a conservative approach.

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    Starcevic, Mirta; Sepec, Marija Pozgaj; Zah, Vanja

    2010-01-01

    Aplasia cutis congenita is a rare, sporadic congenital malformation characterized by skin defects, sometimes extending to the underlying bone. We report a case of a boy born with a large rhomboid scalp and skull defect measuring 8 × 12 cm with no other anomalies. Conservative treatment led to the complete epithelization of the skin defect with secondary closure of the cranial vault without need for surgical intervention. © 2010 Wiley Periodicals, Inc.

  11. Tissue expansion for correction of baldness in aplasia cutis congenita

    NARCIS (Netherlands)

    Beekmans, S.J.A.; Don Griot, J.P.W.; Niessen, F.B.; Mulder, J.W.

    2009-01-01

    Aplasia cutis is a congenital absence of the skin, usually presenting on the scalp. In 20% of all cases, part of the skull is also absent. A residual area of baldness may still be present some years after surgical or conservative treatment. It is possible to excise the scarred hairless region and

  12. 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...

  13. Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome.

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    Hsieh, Chih-Wei; Wu, Yu-Hung; Lin, Shuan-Pei; Peng, Chun-Chih; Ho, Che-Sheng

    2012-01-01

    SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome. © 2012 Wiley Periodicals, Inc.

  14. Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita.

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    Gómez, María; Chiesura, Vilma; Noguera-Morel, Lucero; Hernández-Martín, Angela; García-Peñas, Juan José; Torrelo, Antonio

    2015-01-01

    We report on a child with multiple lesions of membranous aplasia cutis congenita of the scalp since birth who developed an extensive intracranial arteriovenous malformation several years later. Even in the absence of other clues to suggest intracranial anomalies, children with multiple scalp defects should be carefully surveyed and followed up in the long term. © 2015 Wiley Periodicals, Inc.

  15. Bullous aplasia cutis congenita: Case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Maria Teresa Garcia-Romero

    2011-01-01

    Full Text Available Aplasia cutis congenita is a rare condition characterized by the absence of skin and sometimes other underlying structures such as bone or dura. It can be a part of various syndromes and can be associated with multiple genetic diseases, malformation patterns, or a combination of all. It is even considered as a form frustre of a neural tube defect in several literatures. Bullous aplasia cutis congenita is a clinical subtype of the condition, with extremely few cases reported in the literature. It presents as a cystic or bullous lesion at birth, which eventually transforms into an atrophic, flat scar covered by a thin epithelium. Some cases present with a dark collar hair sign around the lesion, which can be even more indicative of an underlying neural tube defect. Management remains controversial and depends on the characteristics of the lesion, but conservative treatment is usually chosen.

  16. Aplasia cutis congenita associated with type I split cord malformation: Unusual case

    OpenAIRE

    Bashar Abuzayed; Pamir Erdincler

    2014-01-01

    A full-term newborn girl born with large skin, muscle, bone and dural defect in the lumbo-sacral area. The lesion included a split spinal cord by a perpendicular bony spur and connected from its tip to the upper lamina. Patient was diagnosed with aplasia cutis congenita (ACC) associated with type I split cord malformation (SCM). Neurological examination of the lower extremities was normal. Spinal X-rays showed a bony spur on the L2 vertebral column and laminar defect in the lumbo-sacral area....

  17. Aplasia cutis congenita associated with type I split cord malformation: Unusual case.

    Science.gov (United States)

    Abuzayed, Bashar; Erdincler, Pamir

    2014-01-01

    A full-term newborn girl born with large skin, muscle, bone and dural defect in the lumbo-sacral area. The lesion included a split spinal cord by a perpendicular bony spur and connected from its tip to the upper lamina. Patient was diagnosed with aplasia cutis congenita (ACC) associated with type I split cord malformation (SCM). Neurological examination of the lower extremities was normal. Spinal X-rays showed a bony spur on the L2 vertebral column and laminar defect in the lumbo-sacral area. Lesion was operated and closed according to anatomic layers. Clinical and intraoperative findings of this extremely rare case are discussed.

  18. SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity.

    Science.gov (United States)

    Lam, Joseph; Dohil, Magdalene A; Eichenfield, Lawrence F; Cunningham, Bari B

    2008-05-01

    Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of aplasia cutis congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant congenital melanocytic nevus and numerous areas of membranous aplasia cutis congenita. We propose the acronym SCALP (nevus sebaceus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus) to summarize the unique features of this case and review the two similar cases in the literature.

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

    International Nuclear Information System (INIS)

    Leboucq, N.; Montoya y Martinez, P.; Montoya-Vigo, F.; Castan, P.

    1994-01-01

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

  20. Aplasia cutis congenita: Two case reports and discussion of the literature

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    Alexandros, Blionas; Dimitrios, Giakoumettis; Elias, Antoniades; Evangelos, Drosos; Andreas, Mitsios; Sotirios, Plakas; Georgios, Sfakianos; Marios, Themistocleous S.

    2017-01-01

    Background: Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. The lesions may occur on every body surface although localized scalp lesions form the most frequent pattern (70%). Complete aplasia involving bone defects occurs in approximately 20% of cases. ACC can occur as an isolated defect or can be associated with a number of other congenital anomalies such as limb anomalies or embryologic malformations. In patients with large scalp and skull defects, there is increased risk of infection and bleeding along with increased mortality and therefore prompt and effective management is advised. Case Description: We describe two cases of ACC, involving a 4 × 3 cm defect managed conservatively and a larger 10 × 5 cm defect managed surgically with the use of a temporo-occipital scalp flap. Both cases had an excellent outcome. Conclusions: Multiple treatment regimens exist for ACC, but there is no consensus on treatment strategies. Conservative treatment has been described and advocated, but many authors have emphasized the disadvantages of this treatment modality. Decision between conservative and surgical management must be individualized according to lesion size and location. PMID:29204308

  1. Aplasia cutis congenita of the scalp- what are the steps to be followed? Case report and review of the literature*

    Science.gov (United States)

    Brzezinski, Piotr; Pinteala, Tudor; Chiriac, Anca E; Foia, Liliana; Chiriac, Anca

    2015-01-01

    Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4-day-old boy with a 5.6-cm- diameter tumor, with a central crust, non-indurate and no inflammatory rim; localized on the scalp and a small, atrophic hairless scar appeared 6 months later (approximately 5cm in length) at the site of the previous tumor. PMID:25672305

  2. Conservative Healing of an 11 × 9-cm Aplasia Cutis Congenita of the Scalp with Bone Defect

    Science.gov (United States)

    Fröjd, Victoria; Maltese, Giovanni; Kölby, Lars; Tarnow, Peter

    2014-01-01

    Objectives Aplasia cutis congenita is a rare congenital condition, and it is difficult to find scientific support for optimal treatment strategies. In addition, these may vary due to defect size, tissue layers involved, contemporary malformations, and the physiologic status of the affected child. Clinical Presentation This case report describes complete skin coverage in 20 weeks and uneventful healing of a large 11 × 9-cm defect of the vertex, involving both skin and skull bone, using conservative treatment. To prevent infection and promote healing, the defect was kept moist and covered at all times, and it was treated with surgical debridement when necessary. For infection control, ionized silver-coated dressings were used in addition to prophylactic antibiotics over the first 3.5 weeks. Follow-up was 2 years. Conclusion Surgical treatment is usually preferred for larger aplasia cutis congenita defects, but it is accompanied with potential risks and will exacerbate secondary reconstruction of alopecia or skull bone defects. This case shows that even very complex defects may be treated conservatively. PMID:25485218

  3. Cutis marmorata telangiectatica congenita

    OpenAIRE

    Ponnurangam, Vinoth N.; Paramasivam, Venkataraman

    2014-01-01

    Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or localised, reticulate erythematous rash. We report an eighty day old male child who presented with the above lesion involving the left upper and lower limbs with underlying atrophic changes.

  4. Cutis marmorata telangiectatica congenita

    Directory of Open Access Journals (Sweden)

    Vinoth N Ponnurangam

    2014-01-01

    Full Text Available Cutis marmorata telangiectatica congenita (CMTC is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or localised, reticulate erythematous rash. We report an eighty day old male child who presented with the above lesion involving the left upper and lower limbs with underlying atrophic changes.

  5. Cutis marmorata telangiectatica congenita

    Science.gov (United States)

    Ponnurangam, Vinoth N.; Paramasivam, Venkataraman

    2014-01-01

    Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or localised, reticulate erythematous rash. We report an eighty day old male child who presented with the above lesion involving the left upper and lower limbs with underlying atrophic changes. PMID:24616866

  6. A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome.

    Science.gov (United States)

    Burkhead, A; Poindexter, G; Morrell, D S

    2009-08-01

    Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of a portion of skin at birth. Skin defects are usually small (0.5 to 3 cm) and located on the scalp. Although there can be other physical or genetic abnormalities, ACC is most often a benign isolated condition. Rarely is an underlying bony defect present, and this association increases the rate of complications. We report a case of a newborn male with ACC of the entire crown and vertex scalp, non-ossified parietal skull and dysplastic corpus callosum. The patient's skull and skin defects were treated non-surgically, and he recovered well.

  7. [Macrocephaly-cutis marmorata telangiectatica congenita].

    Science.gov (United States)

    Girard, C; Bessis, D; Guillot, B

    2006-04-01

    Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities. A six month-old boy was seen for hyperplasia of the right side of the body. Clinical examination disclosed overgrowth, macrocephaly, a generalized reticulated, blue-violet vascular network, partial bilateral syndactyly between the 2nd and 3rd toes, and several superficial capillary malformations. Psychomotor development was normal. Brain MRI showed enlargement of the right lateral ventricle and hemisphere in relation to the left side but without malformation. Radiological examination of the skeleton showed asymmetry of the limbs. The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry. We set out the major components of this polymalformative syndrome that are rarely reported in the dermatologic literature.

  8. Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

    Science.gov (United States)

    Islam, Yasmin Florence Khodeja; Williams, Charles A; Schoch, Jennifer Jane; Andrews, Israel David

    2017-01-01

    We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

  9. Cutis marmorata telangiectatica congenita: clinical features in 35 cases

    NARCIS (Netherlands)

    A.C.A. Devillers (Arjan); F.B. de Waard-van der Spek (Flora); A.P. Oranje (Arnold)

    1999-01-01

    textabstractOBJECTIVE: To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during follow-up. DESIGN: Retrospective survey of the available medical data with

  10. Aplasia Cutis Congénita: Presentación de un caso

    Directory of Open Access Journals (Sweden)

    Rosa María Alonso Uría

    1998-06-01

    Full Text Available Se reportó el caso de un recién nacido, hijo de madre secundigesta, con una malformación congénita del cuero cabelludo, del tipo aplasia cutis congénita. Se describieron las características clínicas de ésta, su evolución, pronóstico y tratamiento. Se hizo énfasis en el cuidado y la prevención de las complicaciones, fundamentalmente infecciosas, en este tipo de neonatosThe case of a newborn, son of a secundigravida, with a congenital malformation of the scalp denominated aplasia cutis congenita is reported. Its clinical characteristics, evolutions, prognosis and treatment are described. Emphasis is made on the care and prevention of the complications, mainly infectious, in this type of neonates

  11. Genetics Home Reference: nonsyndromic aplasia cutis congenita

    Science.gov (United States)

    ... round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  12. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and literature review. ... At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abdominal radiograph ... Examination indicated no signs of child abuse; the parents refused an autopsy exam for the child.

  13. RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA.

    Science.gov (United States)

    Sassalos, Thérèse M; Fields, Taylor S; Levine, Robert; Gao, Hua

    2018-03-14

    To report a rare case of peripheral retinal neovascularization in a patient diagnosed with cutis marmorata telangiectatica congenita (CMTC). Observational case report. A 16-year-old girl was referred to clinic for retinal evaluation. The patient had a clinical diagnosis of CMTC later confirmed by skin biopsy. Examination revealed temporal peripheral retinal sheathing, as well as lattice degeneration in both eyes. Wide-field fluorescein angiogram showed substantive peripheral retinal nonperfusion with evidence of vascular leakage from areas of presumed retinal neovascularization. The patient subsequently had pan retinal photocoagulation laser treatment to each eye without complication. Cutis marmorata telangiectatica congenita is a rare vascular condition known to affect multiple organ systems including the eyes. Although ocular manifestations of CMTC are rare, instances of congenital glaucoma, suprachoroidal hemorrhage, and bilateral total retinal detachments resulting in secondary neovascular glaucoma have been reported. Our patient demonstrates the first reported findings of peripheral nonperfusion and retinal neovascularization related to CMTC in a 16-year-old girl. We propose early retinal examination, wide-field fluorescein angiogram, and early pan retinal photocoagulation laser treatment in patients with peripheral nonperfusion and retinal neovascularization from CMTC.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

  14. Aplasia Cutis Congénita: Presentación de un caso

    OpenAIRE

    Rosa María Alonso Uría; Irka Ballesté López

    1998-01-01

    Se reportó el caso de un recién nacido, hijo de madre secundigesta, con una malformación congénita del cuero cabelludo, del tipo aplasia cutis congénita. Se describieron las características clínicas de ésta, su evolución, pronóstico y tratamiento. Se hizo énfasis en el cuidado y la prevención de las complicaciones, fundamentalmente infecciosas, en este tipo de neonatosThe case of a newborn, son of a secundigravida, with a congenital malformation of the scalp denominated aplasia cutis congenit...

  15. Aplasia cutis congenita in a Nigerian child: A case report

    African Journals Online (AJOL)

    2015-10-01

    Oct 1, 2015 ... case was linked to trisomy 13 syndromes and the third case was linked to fetal valproate syndrome. None of these factors appeared to be relevant in our infant. Pathologically the lesions in ACC are non inflammatory and well demarcated as was the case in the index infant. Laboratory investigations in the ...

  16. Aplasia cutis congenita reminiscent of the lines of Blaschko

    NARCIS (Netherlands)

    Hennekam, R. C.

    1992-01-01

    A male newborn showing congenital symmetrical abdominal skin defects and an alopecia on the scalp following a spiral pattern is described. The pattern of distribution of both skin anomalies was reminiscent of the lines of Blaschko, indicating that somatic mosaicism is the most probable cause for the

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

    Science.gov (United States)

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

    2006-04-01

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

  18. CUTIS MARMORATA TELANGIECTATICA CONGENITA WITH SKIN ULCERATIONS IN A NEW BORN

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    Chatterjee, Rita; Dey, Subhendu

    2009-01-01

    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. PMID:20101343

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Cutis marmorata telangiectatica congenita: Clinical features in 35 cases

    NARCIS (Netherlands)

    A.C.A. Devillers (Arjan); F.B. de Waard-van der Spek (Flora); A.P. Oranje (Arnold)

    1999-01-01

    textabstractObjective: To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with curls marmorata telangiectatica congenita at onset and during follow-up. Design: Retrospective survey of the available medical data with an average follow-up of 1

  1. Cutis marmorata telangiectatica congenita in a preterm newborn – Case report and literature review

    Science.gov (United States)

    Matic, A; Pricic, S; Matic, Milan; Velisavljev Filipovic, G; Ristivojevic, A

    2012-01-01

    Background Cutis marmorata telangiectatica congenita (CMTC) is a sporadic congenital skin vascular abnormality. Significant number of patients has other congenital anomalies. Case Report We report a case of a preterm male newborn with cutis marmorata pattern presented on the skin of the face, right side of front of the trunk, whole back, glutei and both legs. Besides, microretrognatia and asymmetric, bad-formed, low-set ears were notable. Ophthalmologic findings showed visual impairment and pale optic nerve papilla. Monitoring of child showed mental underdevelopment and motor retardation. Conclusion CMTC is a rare finding with good prognosis of skin malformations, with an obligation of dermatologist and paediatrician to investigate other associated congenital anomalies. PMID:23115721

  2. APLASIA CUTIS CONGÉNITA – UM CASO CLÍNICO

    Directory of Open Access Journals (Sweden)

    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.

  3. Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.

    Science.gov (United States)

    Martínez-Lage, Juan F; Guillén-Navarro, Encarna; Almagro, María-José; Felipe-Murcia, Matías; López López-Guerrero, Antonio; Galarza, Marcelo

    2010-01-01

    Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a newly described condition characterized by macrocephaly (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations. This condition is usually documented in the Genetics' literature but it has been scarcely disseminated among neurosurgeons. Sudden death of uncertain origin has been reported in children with M-CMTC. Hydrocephalus and tonsillar herniation often occur in this syndrome. The appearance of symptoms and signs of intracranial hypertension or of brain stem compression in M-CMTC patients may herald the development of irreversible neurological damage or death. We report two children diagnosed with M-CMTC and hydrocephalus who were given a ventriculo-peritoneal shunt. In addition, one of them exhibited tonsillar herniation. Given the high incidence of hydrocephalus and/or tonsillar herniation that occurs in M-CMTC, serial neuroimaging studies and neurosurgical referral seem to be warranted in children with this syndrome.

  4. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

  6. Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body.

    Science.gov (United States)

    Corona-Rivera, Jorge Román; Acosta-León, Jorge; León-Hernández, Miguel Ángel; Martínez-Macías, Francisco Javier; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo

    2014-01-01

    To our knowledge, there are nine previous reports of patients with congenital scrotal agenesis (CSA), seven of which were bilateral, and unilateral in two, also named as hemiscrotal agenesis (HSA). Here, we report a male infant with the previously undescribed co-occurrence of HSA with cutis marmorata telangiectatica congenita (CMTC), and hydronephrosis due to vesicoureteral reflux, all of them on the left side. CMTC is a segmental vascular malformation usually attributed to mosaicism of a postzygotic mutation, whereas the mechanisms in the CSA involve a failure on the labioscrotal fold (LSF) development due to a localized 5α-reductase deficiency and/or androgen insensitivity. Since the skin with HSA was affected also by CMTC and by the fact that it exhibited lack of response to the topical testosterone treatment, all this suggests to us an androgen insensitivity mosaicism in our patient restricted to the left LSF, because skin with intact androgen receptors normally shows some type of response. Since CSA and/or HSA have been also seen in patients with PHACES, popitleal pterygium syndrome, or as part of a recently proposed familial entity with CSA (or agenesis of labia majora as its female counterpart), developmental delay, visual impairment, and moderate hearing loss, further reports could confirm this manifest genetic heterogeneity, highly evocative of somatic mosaicism in our patient. © 2013 Wiley Periodicals, Inc.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

    Science.gov (United States)

    Abumansour, Iman S; Hijazi, Hadia; Alazmi, Anas; Alzahrani, Fatma; Bashiri, Fahad A; Hassan, Hamdy; Alhaddab, Mohammed; Alkuraya, Fowzan S

    2015-08-01

    Cutis Marmorata Telangiectatica Congenita (CMTC) is a congenital localized or generalized vascular anomaly, usually sporadic in occurrence. It can be associated with other cutaneous or systemic manifestations. About 300 cases have been reported. The molecular etiology remains largely unknown. The main purpose of this study is to delineate the molecular basis for a syndromic CMTC phenotype in a consanguineous Saudi family. Clinical phenotyping including detailed neurological imaging, followed by autozygosity mapping and trio whole exome sequencing (WES) are also studied. We have identified a homozygous truncating mutation in ARL6IP6 as the likely cause of a syndromic form of CMTC associated with major dysmorphism, developmental delay, transient ischemic attacks and cerebral vascular malformations. This gene was previously implicated by genome wide association study (GWAS) as a susceptibility locus to ischemic stroke in young adults. We identify ARL6IP6 as a novel candidate gene for a syndromic form of CMTC. This suggests that ischemic stroke or transient ischemic attacks (TIA) may represent, at least in some cases, the mild end of a phenotypic spectrum that has at its severe end autosomal recessive CMTC. This finding contributes to a growing appreciation of the continuum of Mendelian and common complex diseases.

  9. Aplasia of the arteria carotis interna in a male patient with congenital myotonia

    International Nuclear Information System (INIS)

    Sakellariou, P.; Schirmer, M.; Seibert, H.

    1980-01-01

    In a 54 years old man who suffered from a myotonia congenita an intracranial aneurysm was suspected. Cerebral angiography revealed an aplasia of the left internal carotid artery. This very rate anomaly has not yet been described together with a myotonia congenita. (orig.) [de

  10. Leukemia cutis

    Directory of Open Access Journals (Sweden)

    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.

  11. Rmyoplasia congenita.

    Science.gov (United States)

    Banker, Nilesh L

    2002-05-01

    Amyoplasia congenita is a rare congenital disorder. Here such a case along with right sided inguinal hernia in 3-day-old male baby is presented with a brief review of literature. A 3-day-old male baby was presented with multiple bony deformities with right sided inguinoscrotal swelling since birth. It was diagnosed as a case of amyoplasia congenita along with a right sided inguinal hernia. The baby was managed with physiotherapy and right sided herniorrhaphy was done at 2 months and 2 days of age.

  12. Genetics Home Reference: pachyonychia congenita

    Science.gov (United States)

    ... easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as ... E, Schwartz ME, Rittié L. Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium ...

  13. Tuberculosis verrucosa cutis

    Directory of Open Access Journals (Sweden)

    Krishnabharath S

    2017-08-01

    Full Text Available We report a case of 23-year-old male patient with tuberculosis verrucous cutis on the foot for a duration of six months without responding to routine treatment. Tuberculosis is a common disease worldwide. Extrapulmonary tuberculosis contributes to 10% of cases. Cutaneous tuberculosis occupies a small spectrum of extrapulmonary tuberculosis. Tuberculosis verrucosa cutis is an exogenous infection occurring in a previously sensitized patient by direct inoculation of the organism. It occurs in sensitized patients with a moderate to high immune response. The diagnosis in our patient was confirmed by history, clinical examination, histopathological examination and the patient’s response to anti-tuberculous therapy.

  14. Genetics Home Reference: cutis laxa

    Science.gov (United States)

    ... 007-7893-1_11. Review. Citation on PubMed Urban Z, Davis EC. Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol. 2014 Jan;33:16-22. doi: ...

  15. Calcinosis Cutis and Calciphylaxis.

    Science.gov (United States)

    Jiménez-Gallo, D; Ossorio-García, L; Linares-Barrios, M

    2015-12-01

    Calcinosis cutis (CC) is defined as the deposition of calcium salts in the skin. The condition is divided into 5 types: calciphylaxis and dystrophic, metastatic, idiopathic, and iatrogenic CC. Dystrophic CC is the most common form and usually occurs in association with autoimmune diseases. CC can be treated surgically or with the use of drugs such as diltiazem, bisphosphonates, warfarin, ceftriaxone, probenecid, minocycline, or aluminum hydroxide. Calciphylaxis is defined as calcification of the media of small- and medium-sized blood vessels in the dermis and subcutaneous tissue. Clinically, calciphylaxis causes livedo racemosa, which progresses to retiform purpura and skin necrosis. First-line treatment is with sodium thiosulfate. We present a review of the calcifying disorders of the skin, focusing on their diagnosis and treatment. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

  16. Genetics Home Reference: dyskeratosis congenita

    Science.gov (United States)

    ... While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing ... of problems affecting quickly dividing cells in the body such as cells of the nail beds, hair ...

  17. Genetics Home Reference: myotonia congenita

    Science.gov (United States)

    ... stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity ...

  18. Aplasia of the optic nerve.

    Science.gov (United States)

    Tang, Daniel C W; Man, Eric M W; Cheng, Sunny C S

    2015-08-01

    Aplasia of the optic nerve is an extraordinarily rare congenital anomaly that affects one or both optic nerves and is associated with the absence of the central retinal vessel and retinal ganglion cells. We report a case of unilateral optic nerve aplasia in a 4-month-old infant who was found to have left microphthalmos on routine postnatal checkup. Family history, antenatal history, and systemic evaluation were unremarkable. Magnetic resonance imaging showed absent left optic nerve with left microphthalmos. The optic chiasm was present and slightly deviated towards the right side. The remaining cerebral and ocular structures were normal.

  19. Dermatomyositis with Calcinosis Cutis Universalis

    Directory of Open Access Journals (Sweden)

    S L Wadhwa

    1981-01-01

    Full Text Available An eleven year old child with dermatomyositis and calcinosis cutis universalis is presented. She showed heliotrope bloating of eyelids, Gottrons sign, proximal muscle wasting with contractures and extensive areas of calcification over the shoulder, pelvic girdles and proximal extremities. The dignosis was confirmed by biochemical and histopatholo "cal studies as 91 well as electromyography. High doses of steroids and supportive measures made the patient ambulatory.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. Cutis tricolor: a literature review and report of five new cases

    Science.gov (United States)

    Polizzi, Agata; Schepis, Carmelo; Morano, Massimiliano; Strano, Serena; Belfiore, Giuseppe; Palmucci, Stefano; Foti, Pietro Valerio; Pirrone, Concetta; Roggini, Mario; David, Emanule; Salpietro, Vincenzo; Milone, Pietro

    2016-01-01

    Background Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e.g., cutis marmorata telangectasica congenita (phacomatosis achromico-melano-marmorata)] or in the context of other skin (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis, PPV) or complex malformation phenotypes (e.g., microcephaly and dwarfism). Methods (I) Review of the existing literature; and (II) information on our personal experience (clinical, laboratory and imaging data) on new cases with cutis tricolor seen and followed-up at our institutions during years 2010–2016. Results The existing literature revealed 19 previous studies (35 cases) with pure cutaneous or syndromic cutis tricolor phenomena. Our personal experience included 5 unpublished patients (3 boys; 2 girls; currently aged 2 to 14 years) seen and followed-up at our Institutions in Italy who had: (I) skin manifestations of the cutis tricolor type (N=5); (II) skeletal abnormalities including small skull (n=2), obtuse angle of mandible (n=3), mild to moderate scoliosis (n=3), vertebral defects (n=3), and long bones bowing (n=3

  2. Lupus vulgaris with tuberculosis verrucosa cutis

    Directory of Open Access Journals (Sweden)

    Prasad PVS

    1994-01-01

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

  3. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    Science.gov (United States)

    ... congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in ...

  4. Cutis verticis gyrata secondary to acute monoblastic leukemia.

    Science.gov (United States)

    Passarini, B; Neri, I; Patrizi, A; Masina, M

    1993-04-01

    A 64-year-old man affected by acute monoblastic leukemia developed a cutis verticis gyrata during the terminal phase of hemopathy. The association between these two diseases is rare. The classification of cutis verticis gyrata in primary essential, primary non-essential and secondary forms is reviewed. Performing a skin biopsy is necessary in the diagnostic approach to patients with cutis verticis gyrata.

  5. 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).

  6. 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.

  7. Aerobic training in myotonia congenita

    DEFF Research Database (Denmark)

    Andersen, Grete; Løkken, Nicoline; Vissing, John

    2017-01-01

    INTRODUCTION: Exercise has not been investigated in myotonia congenita (MC). We investigated whether regular aerobic training can reduce myotonia and improve fitness. METHODS: Untrained patients with MC (age: 24-62 years; n = 6) completed 28 ± 3 sessions of 30-minute cycle ergometer training at 75......% of maximal capacity for 11 ± 1 weeks. Fitness was evaluated by maximal oxygen uptake. The level of myotonia was assessed by the Myotonia Behavior Scale, 14 step stair test, timed up and go test, and hand and eye closure-open tests. RESULTS: Training increased fitness by 9% (95% confidence interval [CI], 1......-17%; P = 0.02) and maximal workload by 10% (95% CI, 3-18%; P = 0.03). None of the myotonia tests changed in a clinically meaningful way. CONCLUSIONS: Regular endurance training improves fitness and maximal workload performance in patients with MC. The lack of creatine kinase elevations indicates...

  8. Severe calcinosis cutis in an infant

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-05-01

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

  9. Phacomatosis cesioflammea with cutis marmorata-like lesions and unusual extracutaneous abnormalities: Is it a distinct disorder?

    Directory of Open Access Journals (Sweden)

    Shyam B Verma

    2017-01-01

    Full Text Available A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius, an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis. Although some similar complex cases have previously been reported, it seems too early to give them a specific name. Rather, the present case should be included, so far, into the group of unclassifiable types of phacomatosis pigmentovascularis.

  10. Congenıtal cutis laxa

    Directory of Open Access Journals (Sweden)

    Fuat Gürkan

    2003-03-01

    Full Text Available A case report is presenting about a rarely appering disease cutis laxa named also as Dermatomegaly and Generalise Elastosis. As it appears congenitally also seems with the accompaniment of infection, inflamation, collagen tissue diseases, hypersensitivity reactions and treatment with D- penicillamine.

  11. [Morphogenesis of vaginal aplasia. Therapeutic deductions].

    Science.gov (United States)

    Minh, H N; Smadja, A; Belaisch, J

    1985-01-01

    On the basis of the studies of the embryogenesis of the vagina, the authors consider that malformations classically described as being partial aplasia should not be separated from the total absence of the vagina. The important feature is the association of a functioning or non functioning uterus with the absence of the vagina. They believe that it is incorrect to describe the pouch of menstrual retention associated with a functioning uterus as "haematocolpos" and that is not justified to describe the cup-shaped vestibular depression as "hemi-vagina". According to the authors, although vaginal aplasia with a functioning uterus forming a pouch of menstrual retention constitutes an absolute indication for surgery, surgery is not justified in cases of vaginal aplasia with a non functioning uterus. If Frank's method fails in these cases, the patient or the couple should be referred to a sexologist, as women with this anomaly retain a perfect femininity, although unable to conceive.

  12. Pachyonychia congenita: A rare genodermatosis

    Directory of Open Access Journals (Sweden)

    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.

  13. A Case of Congenital Cutis Laxa (Generalized Elastolysis

    Directory of Open Access Journals (Sweden)

    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.

  14. Amoebiasis cutis in HIV positive patient

    Directory of Open Access Journals (Sweden)

    Bumb R

    2006-01-01

    Full Text Available Protozoan infections of the skin, particularly cutaneous amoebiasis, are rare in HIV-positive patients. We report a case of amoebiasis cutis in an HIV-positive truck driver with a history of frequent unprotected sexual exposures. He presented with multiple painful ulcers and sinuses with purulent discharge, necrotic slough and scarring in the perianal and gluteal region for the last 2 years. He was positive for HIV-1 and -2. Cutaneous biopsy revealed numerous Entamoeba histolytica in the trophozoite form, in addition to an inflammatory infiltrate and necrotic debris. He responded well to oral metronidazole and chloroquine. Amoebiasis cutis should be considered in the differential diagnosis of perianal ulcers, particularly in HIV-positive patients.

  15. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

    DEFF Research Database (Denmark)

    Boppudi, S; Bögershausen, N; Hove, H B

    2016-01-01

    Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more...

  16. Calcinosis cutis universalis – a rare manifestation of systemic lupus ...

    African Journals Online (AJOL)

    Calcinosis cutis (or skin and subcutaneous calcification) is a feature of a variety of rheumatic conditions (most commonly dermatomyositis and scleroderma), but is rarely reported in systemic lupus erythematosus (SLE ). When calcinosis cutis does occur in patients with SLE, it tends to be localised (circumscripta) rather than ...

  17. Computed tomography of atresia auris congenita

    International Nuclear Information System (INIS)

    Kiuchi, Sousuke; Koide, Fujio

    1983-01-01

    Computed tomography was performed in 9 patients with atresia auris congenita. In this study, scans were done in axial or coronal projection with the CT/T body scanner. The external auditory canals were involved in varying degrees from mild narrowing to complete atresia. In partial atresia, CT scanning demonstrated the patency of the canal, and also showed the cardrum as a clearly defined soft tissue. Simulatenously, the associated middle ear anomalies were well demonstrated. One of the most common deformities of the ossicular chains was fusion of the malleus and incus. In some cases, these ossicles were dislocated, and occasionally were fixed to the atresia plate or attic wall. Other variations of the temporal bone could be assumed. We concluded that CT is the technique of choice to evaluate patients with atresia auris congenita. (author)

  18. 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.

  19. Aplasia of the parotid gland in Down syndrome.

    Science.gov (United States)

    Ferguson, M M; Ponnambalam, Y

    2005-04-01

    Salivary gland aplasia has not to our knowledge been previously reported in association with Down syndrome. We present a case of bilateral parotid aplasia in a patient with Down syndrome. Clinically he had aplasia of the major salivary glands and symptoms of xerostomia. Thirteen other family members over three generations were examined, and all had functional parotid glands. We reviewed publications about Down syndrome and salivary aplasia, together with the data regarding his other clinical problems and family background. His oral problems were inadequate plaque control, dental caries, and erosion of the teeth.

  20. Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita.

    Science.gov (United States)

    Samuel, Bennett P; Duffner, Ulrich A; Abdel-Mageed, Aly S; Vettukattil, Joseph J

    2015-01-01

    Pulmonary arteriovenous malformations (PAVMs) are rare lesions known to cause cyanosis due to abnormal communication between the pulmonary arteries and veins. They are commonly seen in association with hereditary hemorrhagic telangiectasia, congenital heart disease, hepatopulmonary syndrome, and portopulmonary shunting, but rarely in patients with dyskeratosis congenita (DC). We describe a patient previously diagnosed with DC confirmed to have microscopic PAVMs after bone marrow transplantation and discuss possible pathogenic mechanisms. © 2015 Wiley Periodicals, Inc.

  1. Computational physics of plasma turbulence: CUTIE simulations

    Energy Technology Data Exchange (ETDEWEB)

    Thyagaraja, A.

    1995-11-01

    In this work, direct numerical simulations of two-fluid plasma turbulence using the CUTIE code developed at Culham are briefly described. It presents the formulation of the model, an outline of the solution methods employed and a set of results obtained for COMPASS-D-like conditions with the code. The calculations show the formation of self-organized coherent structures and the existence of ``meso-scale`` current and vorticity fluctuations in the presence of imposed toroidal flow and self-generated poloidal electric drifts. (author).

  2. Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child.

    Science.gov (United States)

    Blalock, Travis W; Teague, Daniel; Sheehan, Daniel J

    2011-06-01

    Epidermolytic hyperkeratosis is a rare congenital ichthyosis. Platelike osteoma cutis also is a rare diagnosis and is associated with abnormal ossification of cutaneous or subcutaneous tissue. A 17-month-old Hispanic girl presented with a plate of subcutaneous bone since birth as well as considerable scaling and hyperkeratosis centered around the joints. Histologic examination confirmed the diagnosis of both epidermolytic hyperkeratosis and osteoma cutis. Although there have been some cases of epidermolytic hyperkeratosis with other dermatologic conditions, we report a rare case of epidermolytic hyperkeratosis and platelike osteoma cutis.

  3. Reconstruction of bilateral tibial aplasia and split hand-foot ...

    African Journals Online (AJOL)

    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: ...

  4. CASE REPORT Calcinosis cutis universalis – a rare manifestation of ...

    African Journals Online (AJOL)

    . Calcinosis cutis is a well-known phenomenon in a variety of rheumatic conditions, particularly dermatomyositis, scleroderma and CREST. (calcinosis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangiectasia) but is ...

  5. Dyskeratosis Congenita: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Anila Karunakaran

    2013-01-01

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

  6. A CASE REPORT OF SARCOIDOSIS CUTIS LICHENOIDES

    Directory of Open Access Journals (Sweden)

    Desislava Tsvetanova

    2017-05-01

    Full Text Available Background: Sarcoidosis is a chronic multisystem granulomatous disease of unknown etiology, characterised bytheformation of noncaseating granulomas in the involved organs, such as the skin, lung, lymph nodes, eyes, joints, brain, kidneys and heart. Cutaneous involvement is about 25% with different clinical presentations, including papules, nodules, plaques, and infiltrated scars. The lichenoid pattern is one of the rarest types of cutaneous sarcoidosis. Purpose: To present 50 –year-old woman diagnosed with Sarcoidosis cutis lichenoides. Material and methods: We present a 50-year-old woman in good general condition, with skin rashes localised on upper limbs. The disease started four months ago. From physical examination, pathological cutaneous lesions affected right and left forearms and cubital folds, presented by papules of various sizes, pink in colour, smooth and shiny. Complete blood count, biochemistry, urine analysis and microbiology were in normal ranges except elevated levels of alpha-1 globulin and gamma- globulin. X-rays examination and abdominal ultrasound were normal too. Mantoux test was negative. Histopathological examination demonstrated granulomas located in the papillary dermis and composedof epithelioid and giant cells, a few lymphocytes, without necrosis. Consultations with pulmonologist and ophthalmologist showed no abnormalities. Results: The diagnosis Sarcoidosis cutis lichenoides was based on the medical history, general status, and morphological characteristics of skin lesions, histopathological examination and consultations. In the absence of organ involvement, systemic therapy with Methylprednisolone and topical treatment with Flumetasone pivalate 0.2mg/Salicylic acid 30mg/g was started. On the 5th day of treatment, we revealed initial resorption of papules. After discharging the patient from the hospital, systemic therapy with Methylprednisolone and topical treatment with Tacrolimus 0.1% ointment was conducted. There

  7. 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.

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

    OpenAIRE

    Valdés-Flores, Margarita; Casas-Avila, Leonora; Hernández-Zamora, Edgar; Kofman, Susana; Hidalgo-Bravo, Alberto

    2016-01-01

    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, ment...

  9. Unilateral aplasia of both cruciate ligaments

    Directory of Open Access Journals (Sweden)

    Liem Dennis

    2010-02-01

    Full Text Available Abstract Aplasia of both cruciate ligaments is a rare congenital disorder. A 28-year-old male presented with pain and the feeling of instability of his right knee after trauma. The provided MRI and previous arthroscopy reports did not indicate any abnormalities except cruciate ligament tears. He was referred to us for reconstruction of both cruciate ligaments. The patient again underwent arthroscopy which revealed a hypoplasia of the medial trochlea and an extremely narrow intercondylar notch. The tibia revealed a missing anterior cruciate ligament (ACL footprint and a single bump with a complete coverage with articular cartilage. There was no room for an ACL graft. A posterior cruciate ligament could not be identified. The procedure was ended since a ligament reconstruction did not appear reasonable. A significant notch plasty if not a partial resection of the condyles would have been necessary to implant a ligament graft. It is most likely that this would not lead to good knee stability. If the surgeon would have retrieved the contralateral hamstrings at the beginning of the planned ligament reconstruction a significant damage would have occurred to the patient. Even in seemingly clear diagnostic findings the arthroscopic surgeon should take this rare abdnormality into consideration and be familiar with the respective radiological findings. We refer the abnormal finding of only one tibial spine to as the "dromedar-sign" as opposed to the two (medial and a lateral tibial spines in a normal knee. This may be used as a hint for aplasia of the cruciate ligaments.

  10. Unilateral submandibular gland aplasia masquerading as cancer nodal metastasis.

    Science.gov (United States)

    Shipchandler, Taha Z; Lorenz, Robert R

    2008-01-01

    Five reports have examined unilateral submandibular gland aplasia. The purposes of this report are to demonstrate submandibular gland aplasia leading to contralateral gland hypertrophy in the setting of oral cavity cancer and to discuss the corresponding diagnostic and management challenges. This study is a case report of a 60-year-old male who presented with pain on the right side of the mobile tongue. This report uses literature review. A 60-year-old male presented with pain on the right side of the mobile tongue. Subsequent results of punch biopsy revealed squamous cell carcinoma in situ with foci of microinvasion of the tongue. Head and neck examination revealed no abnormalities. The patient underwent a wide-local excision of the tongue lesion. Postoperative computed tomographic (CT) scan showed an asymmetric mass on the ipsilateral side of the cancer in the region of the submandibular gland. The gland was noted to be abnormally large. A diagnosis of contralateral submandibular gland aplasia was made. The patient is cancer-free at 2 years postlocal excision. Salivary gland aplasia is an extremely rare disorder and is often associated with various congenital syndromes. Unilateral submandibular gland aplasia is even rarer with ours representing the sixth reported case. Aplasia is believed to stem from a regional disturbance in early fetal development. Common symptoms can include dysphagia, dry mouth, decreased taste, and tooth decay. In the presence of a history of oral cavity cancer, unilateral submandibular gland aplasia poses a challenge during postoperative cancer follow-up. Unilateral submandibular gland aplasia in the setting of oral cavity cancer poses a unique challenge for cancer follow-up. Hypertrophy of the submandibular gland on the other side can masquerade as nodal metastasis. Head and neck examination as well as CT scan can be inconclusive. Regular confirmatory tests such as fine needle aspiration biopsy and positron emission tomography/CT for

  11. ''Cutie Pie,'' A portable radiation instrument

    International Nuclear Information System (INIS)

    Ballou, C.O.

    1947-01-01

    A portable beta and gamma radiation meter of exceedingly small dimensions and weight has been developed. User acceptance has been more enthusiastic than any previous instrument of its type. The circuit, using one Victoreen V-32 tube, is the simplest electronic circuit possible for radiation work and gives high sensitivity. Stability exceeds anything of comparable sensitivity which has come to our attention. The short term stability is due to a circuit which prevents emission before the cathode reaches operating temperature. Long term stability has been improved by evacuating the tube enclosure and switch. The complete, one unit instrument, weighs four pounds two ounces, and is carried with a pistol grip. Exclusive of chamber and handle, its dimensions are 3'' wide, 6 1/2'' long, and 5'' high. The case is formed of aluminum and is designed to give excellent visibility of the meter. Three ranges of approximately 50, 500 and 5000 mr/hr have been incorporated in the instruments. The instrument has been named ''Cutie Pie'' due to its diminutive size

  12. 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.

  13. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    International Nuclear Information System (INIS)

    Guguloth, Ashwitha; Aswani, Yashant; Anandpara, Karan Manoj

    2016-01-01

    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

  14. Congenital aplasia of the semicircular canals.

    Science.gov (United States)

    Satar, Bulent; Mukherji, Suresh K; Telian, Steven A

    2003-05-01

    To describe the underrecognized inner ear malformation characterized by complete aplasia of the labyrinthine semicircular canals associated with a relatively well-formed cochlea, to investigate its relationship with known syndromic forms of hearing loss, and to hypothesize regarding the potential embryopathogenesis of this anomaly. A retrospective case review consisting of cases of sensorineural hearing loss with radiographic evidence demonstrating agenesis of the semicircular canals associated with a cochlea that was either morphologically normal or sufficiently well developed to accommodate the full insertion of a cochlear implant electrode. Cases were identified by computerized tomography findings that identified the anomaly under study. Departments of otolaryngology and radiology in a tertiary referral center, with a large cochlear implant program serving over 800 patients, more than half of whom are children. Fifteen patients with the anomaly under study were identified. Each patient underwent a complete otologic examination, audiometric studies, and high resolution computerized tomography of the temporal bone in axial and coronal planes. The bony morphology of the cochlea, round and oval windows, vestibule, semicircular canals, and vestibular aqueduct, and the course of the facial nerve were examined. Auditory findings and otologic treatment are presented. Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, congenital Heart defects, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or deafness), 1 met criteria for Noonan's syndrome, and one had features of both these syndromes. Although the cochlea was present in all cases, the cochlear morphology was usually abnormal in the CHARGE association patients. Of the 20 ears in the CHARGE subjects, only 3 ears (15%) were seen to have completely normal development of the cochlea in both the basal and upper turns. The others

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

    Directory of Open Access Journals (Sweden)

    Margarita Valdés-Flores

    2016-02-01

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

  16. 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.

  17. 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...

  18. Right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus

    International Nuclear Information System (INIS)

    Lee, Peter; McCauley, Roy; Westra, Sjirk; Baba, Timothy

    2006-01-01

    Pulmonary aplasia and bronchopulmonary foregut malformations in which a patent communication between the foregut and the pulmonary system is present are rare congenital abnormalities. Pulmonary aplasia associated with a pulmonary sling is an even rarer abnormality. We report a unique case of right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus diagnosed by multidetector helical CT. (orig.)

  19. Myotonia congenita in a Jack Russell terrier : clinical communication

    Directory of Open Access Journals (Sweden)

    R.G. Lobetti

    2009-05-01

    Full Text Available A 4-month-old male Jack Russell terrier was evaluated for non-painful muscle spasms and collapse associated with exercise and activity. Clinical examination revealed well-defined, non-painful hypertrophic muscles of the fore and hind limbs and exercise and excitement induced hindquarter bunny-hopping gait, which improved with activity but worsened with resting and with any sudden changes in direction of movement. Neurological examination and routine laboratory testing showed no abnormalities. DNA analysis for myotonia congenita showed the dog to have a gene mutation in the chloride ion channel, diagnostic for myotonia congenita, which has not been reported in the Jack Russell terrier breed.

  20. Unilateral Aplasia of Mandibular Condyle: A Rare Case Entity

    Directory of Open Access Journals (Sweden)

    Anil G Ghom

    2011-01-01

    Full Text Available Aplasia of the mandibular condyle is extremely rare when not seen in association with or as a part of any syndrome. The incidence is estimated to be 1 in 5.600 births. Growth disturbances in the development of the mandibular condyle may occur in utero late in the first trimester and may result in disorders, such as aplasia or hypoplasia of the mandibular condyle. We report a case of aplasia of left mandibular condyle along with hypoplasia of right condylar head in a 20-year-old female patent. The patient reported to the clinic with the complaint of proclined upper front teeth, wanting to improve her esthetics. Clinical, conventional radiography and computer tomographic studies revealed the complete absence of condyle on the left and hypoplasia of the head of mandibular condyle on the right side. The etiology was unknown and on the basis of history, clinical study and radiological examination it was suggested to be of developmental origin.

  1. 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.)

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

    Directory of Open Access Journals (Sweden)

    Nasim Jafari-Pozve

    2014-01-01

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

  3. Congenital skull defect and neurofibroma: without scalp and other abnormalities.

    Science.gov (United States)

    Wang, Jie-Cong; Wei, Liu; Xu, Jia; Liu, Jian-Feng; Gui, Lai

    2012-07-01

    Congenital skull defect is a rare malformation that is usually associated with congenital anomalies of the scalp and comparable lesions in the brain, spinal cord, limbs, and skeletal muscle. Most previously reported cases have described skull defects with aplasia cutis congenita and other congenital abnormalities. Very few patients with skull defects present with an intact scalp or neurofibroma. The authors report an adult patient with a rare congenital skull defect and local neurofibroma.

  4. 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.

  5. Pure red cell aplasia following irradiation of an asymptomatic thymoma

    International Nuclear Information System (INIS)

    Shibata, Kazuo; Masaoka, Akira; Mizuno, Takeo; Ichimura, Hideki

    1982-01-01

    An unusual case of pure red-cell aplasia (PRCA) developed sixteen days after irradiation of an asymptomatic thymoma. After removal of the encapsulated thymoma there was no improvement in the anemia, and no response to adrenocortical and anabolic steroid hormones or immunosuppressive agents. (author)

  6. Unilateral proximal focal femoral deficiency, fibular aplasia, tibial ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2014-04-30

    Apr 30, 2014 ... Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable. FFU syndrome. Rabah M. ... We report for the first time an Egyptian child with a rare unilateral .... 4th and 5th metatarsal bones are absent), absent middle phalanx of the 2nd ...

  7. 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.

  8. Amyloidosis cutis dyschromica: A rare reticulate pigmentary dermatosis

    Directory of Open Access Journals (Sweden)

    Shyam Verma

    2015-01-01

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

  9. Embolis cutis medicamentosa, a rare preventable iatrogenic complication

    Directory of Open Access Journals (Sweden)

    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.

  10. CUTIS VERTICIS GYRATA – A RARE CASE REPORT

    OpenAIRE

    Gopal; Meena; Sharath Kumar; Ramesh; Nandini

    2013-01-01

    ABSTRACT: Cutis verticis gyrata (CVG) is a skin deformity characterised by excessive growth of skin of the scalp, resulting in furrows and folds which are simila r to gyri of the brain cortex. A 25 year old male presented to the Dermatology department, Kempegowda institute of medical sciences with increased skin folds over scalp, forehead and face, increased oiliness of face, increased sweating, swelling of hands a nd feet and pain in limbs since 4 years. Routine blood in...

  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. 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.

  13. Laparoscopic morcellation of didelphic uterus with cervical and renal aplasia.

    Science.gov (United States)

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

    2009-01-01

    This is a case report (and review of the literature) of a 12-year and 10-month-old girl with a rare congenital anomaly of uterus didelphys, unilateral cervix aplasia, and ipsilateral renal aplasia. She had severe dysmenorrhea from the first menses. In an effort to preserve fertility, a cervical fistula was made that closed over. A laparoscopic hemi-hysterectomy was done successfully and rapidly with laparoscopic morcellation. Because no ureter was present, it was not necessary to trace it. For this congenital anomaly, laparoscopic morcellation of the obstructed hemiuterus is the preferred treatment either as a primary procedure or as a secondary procedure following failure of a surgical cervical fistula for the young patient.

  14. Pure Red Cell Aplasia Associated with Good Syndrome

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    Masayuki Okui

    2017-04-01

    Full Text Available Pure red cell aplasia (PRCA and hypogammaglobulinemia are paraneoplastic syndromes that are rarer than myasthenia gravis in patients with thymoma. Good syndrome coexisting with PRCA is an extremely rare pathology. We report the case of a 50-year-old man with thymoma and PRCA associated with Good syndrome who achieved complete PRCA remission after thymectomy and postoperative immunosuppressive therapy, and provide a review of the pertinent literature.

  15. Pure Red Cell Aplasia Following Thymothymectomy: A Case Report

    OpenAIRE

    CK RAO, Anuradha; NAYAL, Bhavna; MANOHAR, Chethan

    2013-01-01

    Thymoma, a rare epithelial neoplasm, is the most common anterior-superior mediastinal tumour. Thymoma can occur sporadically or in association with other conditions, such as myasthenia gravis, pure red cell aplasia (PRCA), and hypogammaglobulinemia. Only 5% of thymoma cases develop PRCA; however, 10–50% of patients presenting with PRCA have an associated spindle cell type thymoma. Thymoma complicated by PRCA is associated with a poor outcome. We report the case of a 38-year-old female who pre...

  16. 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.

  17. Acquired Localized Cutis Laxa due to Increased Elastin Turnover

    DEFF Research Database (Denmark)

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

    2016-01-01

    obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with microscopy, polymerase chain reaction, western blotting and cell culture experiments. Skin from the affected area lacked elastin fibers in electron microscopy but had higher mRNA expression of elastin....... In conclusion, we report a case of acquired localized cutis laxa with a lack of elastic fibers in the skin of the patient's upper body. The lack of elastic fibers in the affected skin was combined with increased mRNA expression and protein levels of elastin. These findings indicate that elastin synthesis...... was increased but did not lead to deposited elastic fibers in the tissue....

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

    Directory of Open Access Journals (Sweden)

    Gisele Moro do Nascimento

    2010-10-01

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

  19. Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

    Science.gov (United States)

    Cohen, Rony; Halevy, Ayelet; Aharoni, Sharon; Kraus, Dror; Konen, Osnat; Basel-Vanagaite, Lina; Goldberg-Stern, Hadassa; Straussberg, Rachel

    2016-10-01

    Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis). One of the patients has myoclonic epilepsy which may have contributed to his more severe clinical presentation. The literature on cutis laxa syndromes is reviewed.

  20. Rational management approach to pure red cell aplasia.

    Science.gov (United States)

    Balasubramanian, Suresh Kumar; Sadaps, Meena; Thota, Swapna; Aly, Mai; Przychodzen, Bartlomiej P; Hirsch, Cassandra M; Visconte, Valeria; Radivoyevitch, Tomas; Maciejewski, Jaroslaw P

    2018-02-01

    Pure red cell aplasia is an orphan disease, and as such lacks rationally established standard therapies. Most cases are idiopathic; a subset is antibody-mediated. There is overlap between idiopathic cases and those with T-cell large granular lymphocytic leukemia, hypogammaglobulinemia, and low-grade lymphomas. In each of the aforementioned, the pathogenetic mechanisms may involve autoreactive cytotoxic responses. We selected 62 uniformly diagnosed pure red cell aplasia patients and analyzed their pathophysiologic features and responsiveness to rationally applied first-line and salvage therapies in order to propose diagnostic and therapeutic algorithms that may be helpful in guiding the management of prospective patients, 52% of whom were idiopathic, while the others involved large granular lymphocytic leukemia, thymoma, and B-cell dyscrasia. T-cell-mediated responses ranged between a continuum from polyclonal to monoclonal (as seen in large granular lymphocytic leukemia). During a median observation period of 40 months, patients received a median of two different therapies to achieve remission. Frequently used therapy included calcineurin-inhibitors with a steroid taper yielding a first-line overall response rate of 76% (53/70). Oral cyclophosphamide showed activity, albeit lower than that produced by cyclosporine. Intravenous immunoglobulins were effective both in parvovirus patients and in hypogammaglobulinemia cases. In salvage settings, alemtuzumab is active, particularly in large granular lymphocytic leukemia-associated cases. Other potentially useful salvage options include rituximab, anti-thymocyte globulin and bortezomib. The workup of acquired pure red cell aplasia should include investigations of common pathological associations. Most effective therapies are directed against T-cell-mediated immunity, and therapeutic choices need to account for associated conditions that may help in choosing alternative salvage agents, such as intravenous immunoglobulin

  1. Aplasia pulmonar: a propósito de dos casos

    Directory of Open Access Journals (Sweden)

    Augusto Ignacio Siegert-Olivares

    2015-01-01

    Conclusiones: La aplasia pulmonar es una entidad infrecuente. Debido a la variabilidad en la presentación clínica debe tenerse un alto índice de sospecha ante el hallazgo de la radiopacidad total del hemitórax. Los métodos diagnósticos que se utilizan son radiografía, tomografía y gammagrafía. Para confirmar el diagnóstico se requiere realizar broncoscopia. La escisión del muñón y la traslocación diafragmática se han descrito como opciones quirúrgicas de tratamiento.

  2. Familial amyloidosis cutis dyschromica in three siblings: report from Indonesia

    Directory of Open Access Journals (Sweden)

    Melyawati Hermawan

    2014-11-01

    Full Text Available Amyloidosis cutis dyschromica (ACD is an extremely rare type of primary cutaneous amyloidosis. To date there are fewer than 40 published cases worldwide; some were reported affecting several family members. Its resemblance to other common pigmentation disorders makes it rarely recognized at first sight. Our patient, the 12-year-old firstborn son of non-consanguineous parents presented with generalized mottled pigmentation starting from lower extremities. His siblings suffered from similar condition. The clue for diagnosis is the amyloid deposition in the papillary dermis. The etiology of ACD is still unknown, but genetic factors and ultraviolet radiation are implicated. It is proposed that disturbance of keratinocyte repair following ultraviolet radiation results in amyloid deposition. The treatment remains a challenge. Oral acitretin treatment, thought to repair keratinization defect, gave a slight improvement in our case. Our is the first case of ACD reported in Indonesia.

  3. Extramedullary Myeloid Cell Tumour Presenting As Leukaemia Cutis

    Directory of Open Access Journals (Sweden)

    Thappa Devinder Mohan

    2002-01-01

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

  4. 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

  5. Pure red cell aplasia following thymothymectomy: a case report.

    Science.gov (United States)

    Ck Rao, Anuradha; Nayal, Bhavna; Manohar, Chethan

    2013-10-01

    Thymoma, a rare epithelial neoplasm, is the most common anterior-superior mediastinal tumour. Thymoma can occur sporadically or in association with other conditions, such as myasthenia gravis, pure red cell aplasia (PRCA), and hypogammaglobulinemia. Only 5% of thymoma cases develop PRCA; however, 10-50% of patients presenting with PRCA have an associated spindle cell type thymoma. Thymoma complicated by PRCA is associated with a poor outcome. We report the case of a 38-year-old female who presented with chest pain, and was diagnosed with an anterior mediastinal mass. A thymectomy was performed, and histopathological examination revealed mixed thymoma; two months later, the patient developed PRCA. The present case reinforces the need for clinicians to be vigilant with thymoma patients, even following thymectomy.

  6. Aspectos imunológicos da Leishmaniose Cutis Difusa

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    Aloysio Argollo

    1977-06-01

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

  7. 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.

  8. 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. © 2014 British Association of Dermatologists.

  9. Aspectos imunológicos da Leishmaniose Cutis Difusa

    Directory of Open Access Journals (Sweden)

    Aloysio Argollo

    1977-06-01

    Full Text Available Um caso de Leishmaniose Cutis Difusa é estudado quanto aos seus aspectos imunológicos. A imunidade celular foi investigada com testes intradérmicos, sensibilização artificia! do DNCB e dosagem de fator de inibição do macrófago (MIF. Embora alguns antígenos injetados tivessem dado reação positiva, a leishmanina foi não reatora evidenciando uma anergia específica. As imunoglobulinas G e M estavam elevadas. 0 encontro de anticorpos circulantes por alguns autores associando ao fato de que o complemento C3 era baixo em nosso paciente, levou-nos a considerar o consumo deste que fixado a complexos Ag-Ac circulantes poderiam explicar os surtos de febre e artralgias. Por fim são considerados os pontos de vista de autores diferentes em relação ao fato de que a LCD seria causada por espécie diferente de leishmânia, ou por defeito imunológico do paciente, destacando-se o trabalho de Convit³ em favor desta útlima hipótese.

  10. Case Descriptions and Observations About Cutis Marmorata From Hypobaric Decompressions

    Science.gov (United States)

    Conkin, Johnny; Pilmanis, Andrew A.; Webb, James T.

    2002-01-01

    There is disagreement about the pathophysiology, classification, and treatment of cutis marmorata (CM), so there is disagreement about the disposition and medical status of a person that had CM. CM is rare, associated with stressful decompressions, and may be associated with serious signs and symptoms of decompression sickness (DCS). CM presents as purple or bluish-red skin mottling, often in the pectoral region, shoulders, chest, or upper abdomen. It is unethical to induce CM in humans so all information comes from retrospective analysis of case reports, or from animal models. A literature search, seven recent case reports from the Johnson Space Center and Brooks Air Force Base Hypobaric DCS Databases, interviews with DCS treatment experts, and responses to surveys provided the factual information used to arrive at our conclusions and recommendations. The "weight of evidence" indicates that CM is a local, not centrally mediated or systemic response to bubbles. It is unclear whether obstruction of arterial or venous blood flow is the primary insult since the lesion is reported under either condition. Any neurological or cardiovascular involvements are coincidental, developing along the same time course. The skin could be the source of the bubbles due to its mass, the associated layer of fat, and the variable nature of skin blood flow. CM should not be categorized as Type II DCS, should be included with other skin manifestations in a category called cutaneous DCS, and hyperbaric treatment is only needed if ground level oxygen is ineffective in the case of altitude-induced CM.

  11. Dermatitis herpetiformis misdiagnosed and treated as tinea cutis glabrae

    Directory of Open Access Journals (Sweden)

    Marta Stawczyk-Macieja

    2016-02-01

    Full Text Available Introduction . Dermatitis herpetiformis is a rare bullous disorder. Autoimmunological disturbances associated with hypersensitivity to gluten play the main role in the etiopathogenesis of the disease. Clinical manifestations include polymorphic skin lesions which may cause diagnostic difficulties. Objective. To present a case of dermatitis herpetiformis diagnosed and treated without any clinical improvement as tinea cutis glabrae. Case report . A 20-year-old male patient was admitted for the evaluation of polymorphic skin lesions of 7-month duration distributed symmetrically on the skin of elbows, knees, face and the gluteal and sacral region. The patient was previously treated with systemic and topical antimycotic drugs. Due to a typical distribution of skin lesions as well as symptoms reported by the patient, we started to suspect Duhring’s disease. The diagnosis was confirmed by direct immunofluorescence of skin biopsy and serological tests. Systemic treatment with dapsone and a gluten-free diet led to clinical improvement. Conclusions . The morphology and localization of skin lesions in Duhring’s disease may be similar to the clinical presentation of fungal infection of the skin, which in equivocal cases should be excluded by a mycological test.

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

    OpenAIRE

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

    2002-01-01

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

  13. Leukemia Cutis: A Report of 17 Cases and a Review of the Literature.

    Science.gov (United States)

    Martínez-Leboráns, L; Victoria-Martínez, A M; Torregrosa-Calatayud, J L; Alegre de Miquel, V

    2016-11-01

    Dermatologic manifestations of leukemia can be both specific and nonspecific (e.g., opportunistic infections, purpura and ecchymosis, Sweet syndrome). Leukemia cutis refers to the infiltration of the skin with neoplastic leukocytes and its early diagnosis has important prognostic implications. We report on 17 cases of leukemia cutis seen in our department between 1994 and 2014 and describe the characteristics of the patients (age, sex, medical history), the morphology of the lesions, and associations with systemic disease. Most of the patients were male and the most common associated malignancy was acute myeloid leukemia. The most frequent dermatologic manifestations were nodules or erythematous papules on the limbs. We describe our experience with the diagnosis and management of leukemia cutis over a period of 20 years and emphasize the importance of clinical signs in the early diagnosis of this condition. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Pharmacological treatment in calcinosis cutis associated with connective-tissue diseases.

    Science.gov (United States)

    Dima, Alina; Balanescu, P; Baicus, C

    2014-01-01

    Dystrophic calcinosis cutis is a common manifestation in connective tissue diseases, but there's still no consensus on treatment. The purpose of this review is to discuss the current pharmacological options of treatment in calcinosis cutis related to rheumatic diseases. We performed an extensive MEDLINE search of articles from 1970 to January 2014 using the index word "calcinosis" and the co-indexing terms "treatment", "calcium channel blocker", "diltiazem", "nifedipine", "verapamil", "amlodipine", "anticoagulant", "warfarin", "bisphosphonate", "etidronate", "pamidronate", "alendronate", "risedronate", "aluminum hydroxide", "probenecid", "antibiotic", "tetracycline", "minocycline", "ceftriaxone", "colchicine", "intravenous immunoglobulin", "sodium thiosulfate", "TNF-alpha inhibitors", "infliximab", "rituximab", "thalidomide", "corticosteroids", "stem cell transplantation". Diltiazem is recommended by some authors as first-line approach in calcinosis cutis and is also the therapeutic principal referred by the largest number of available publications. It seems to be efficient in more than half of the reported cases. There remain, however, a significant number of patients in which another solution must be found. The general trends observed over time are of switching the search of solutions in dystrophic calcinosis cutis related to connective tissue diseases, from therapies on calcium metabolism to therapies for the underlying disease. The new options available in the management of calcinosis cutis, like biological therapies or intravenous immunoglobulin, seem to be promising, but not universally successful. In children with severe forms, hematopoietic stem cell transplantation can also be taken into consideration. Data for all therapies proposed in calcinosis cutis is generally reported in single cases and small case series and so, the existent data is all yielding a low level of evidence.

  15. Leukemia cutis in an Indian female – a rare entity | Puri | Sudanese ...

    African Journals Online (AJOL)

    Leukemia cutis represents a skin infiltration by leukemic cells. Clinically it can mimic a wide variety of dermatoses. We describe a case of a 60 years old female who presented with multiple papulonodular and vesicular lesions over trunk, neck, axilla, abdomen and hands since 1 month. A skin biopsy revealed a leukemic ...

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

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    Vera Baptista

    2015-12-01

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

  17. Investigation into neurogenic bladder in arthrogryposis multiplex congenita.

    Science.gov (United States)

    Arantes de Araújo, Liubiana; Ferraz de Arruda Musegante, André; de Oliveira Damasceno, Edjane; Barroso, Ubirajara; Badaro, Roberto

    2013-12-01

    During the follow-up of children who had been diagnosed with arthrogryposis multiplex congenita (AMC), it was noted that some were experiencing dysfunctional voiding. Further investigation into these cases led to a diagnosis of neurogenic bladder. Few studies have investigated the relationship between AMC and neurogenic bladder, this being the first to describe the clinical characteristics of neurogenic bladder among these patients. A series of 26 cases were obtained from the electronic medical records of patients with AMC who were admitted to Hospital Sarah in Salvador between 1994 and 2007. The patients had all been diagnosed with neurogenic bladder through clinical symptoms, lower urinary tract exams, and urodynamic findings. There was urinary incontinence in 21 patients (81%), and 50% had a history of urinary tract infections. Renal function was altered in 4 patients (15%) and normal in 22 (85%). In the urodynamic study, 14 patients (64%) had detrusor overactivity and 6 (27%) had underactivity. Patients with AMC may show changes in the urinary tract, including neurogenic bladder. It is mandatory to study these symptomatic children with urinary disorders. Copyright © 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  18. Pachyonychia congenita: Report of two cases and mutation analysis

    Directory of Open Access Journals (Sweden)

    Jia-Ming Yeh

    2012-09-01

    Full Text Available Pachyonychia congenita (PC comprises a group of rare autosomal dominant genetic disorders that involve ectodermal dysplasia. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratoses, and oral leukokeratosis. Historically, PC has been subdivided into two subtypes, PC-1 or PC-2, on the basis of clinical presentation. However, differential diagnosis based on clinical grounds, especially in young and/or not fully penetrant patients, can be difficult. In addition, clinical analysis of the large case series has shown that there is considerable phenotypic overlap between these two subtypes recently. Based on the advent of molecular genetics and the identification of the genes causing PC, more specific nomenclature has been adopted. Therefore, diagnosis at the molecular level is useful and important to confirm the clinical impression. In this report, we describe two typical cases of PC with mutation analysis revealed a small deletion (514_516delACC, Asn172del and a point mutation (487 G > A, GAG → AAG, Glu163Lys in the KRT6A gene.

  19. 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.

  20. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts

    International Nuclear Information System (INIS)

    DeBauche, D.M.; Pai, G.S.; Stanley, W.S.

    1990-01-01

    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

  1. 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.

  2. 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

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

    International Nuclear Information System (INIS)

    Dubner, D.; Perez, M.; Gisone, P.

    1996-01-01

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

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

    International Nuclear Information System (INIS)

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

    1983-01-01

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

  5. Cyclosporin A Reversed Chemoresistance of a Patient with Pure Red Cell Aplasia Secondary to Thymoma.

    Science.gov (United States)

    Li, Peng; Du, Fengcai; Gong, Zhaohua; Hu, Baohong; Chi, Cheng; Chu, Hongjin; Chen, Jian

    2017-08-01

    This case study reports on a patient who relapsed with thymoma (mixed type) nine years after tumor resection. After four courses of rescue chemotherapy (docetaxel and cisplatinum), the patient was further diagnosed with pure red cell aplasia. It was noticed that cyclosporin A (CsA), which was administered to treat aplasia, could reverse chemoresistance. Its mechanism is not completely clear, but the hypothesis of CsA inhibiting P-glycoprotein mediated drug efflux is the most acceptable. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

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

    International Nuclear Information System (INIS)

    Dubner, D.; Gisone, P.; Perez, M.R.

    1995-01-01

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

  7. Aplazia Kutis Konjenita'lı Olguların Değerlendirilmesi ve İzlemi

    OpenAIRE

    KAYA, Barsan; TEKIN, Neslihan; AKSIT, Arif

    2015-01-01

    SUMMARY: Aplasia cutis congenita (ACC) is part of a heterogeneous group of disorders which is characterized by the absence of a portion of skin in a localized or widespread area effecting approximately 1 in 10,000 newborns. There is no sex predilection or increase in the frequency depending on ethnic origin. Lesions are mostly seen on the scalp as a solitary, small (0.5-3 cm) lesions with varying degrees in deepness. Although the association with various syndromes has been defined, it is most...

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

    Science.gov (United States)

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

    1992-01-01

    A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia. Images PMID:1453438

  9. Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients.

    NARCIS (Netherlands)

    Horlings, G.C.; Drost, G.; Bloem, B.R.; Trip, J.; Pieterse, A.J.; Engelen, B.G.M. van; Allum, J.H.J.

    2009-01-01

    OBJECTIVE: Patients with autosomal recessive myotonia congenita display myotonia and transient paresis that diminish with repetitive muscle contractions (warm-up phenomenon). A new approach is presented to quantify this warm-up phenomenon under clinically relevant gait and balance tasks. METHODS:

  10. 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.

  11. [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...

  12. 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.

  13. [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

  14. Surface Modification of C17200 Copper-Beryllium Alloy by Plasma Nitriding of Cu-Ti Gradient Film

    Science.gov (United States)

    Zhu, Y. D.; Yan, M. F.; Zhang, Y. X.; Zhang, C. S.

    2018-03-01

    In the present work, a copper-titanium film of gradient composition was firstly fabricated by the dual magnetron sputtering through power control and plasma nitriding of the film was then conducted to modify C17200 Cu alloy. The results showed that the prepared gradient Cu-Ti film by magnetron sputtering was amorphous. After plasma nitriding at 650 °C, crystalline Cu-Ti intermetallics appeared in the multi-phase coating, including CuTi2, Cu3Ti, Cu3Ti2 and CuTi. Moreover, even though the plasma nitriding duration of the gradient Cu-Ti film was only 0.5 h, the mechanical properties of the modified Cu surface were obviously improved, with the surface hardness enhanced to be 417 HV0.01, the wear rate to be 0.32 × 10-14 m3/Nm and the friction coefficient to be 0.075 at the load of 10 N, which are all more excellent than the C17200 Cu alloy. In addition, the wear mechanism also changed from adhesion wear for C17200 Cu substrate to abrasive wear for the modified surface.

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

    International Nuclear Information System (INIS)

    Kim, Min Sung; Jee, Won Hee; Kim, Sun Ki; Lee, So Yeon; Lim, Gye Yeon; Park, Gyeong Sin; Lee, Seok

    2010-01-01

    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

  16. Calcinosis Cutis Complicated by Compartment Syndrome Following Extravasation of Calcium Gluconate in a Neonate: A Case Report

    Directory of Open Access Journals (Sweden)

    Tuo-Kang Chen

    2010-08-01

    Full Text Available Hypocalcemia most frequently occurs in premature neonates. It is usually treated by intravenous (iv calcium supplementation. However, complications caused by extravasation of iv calcium gluconate include localized soft tissue calcification, necrosis, cellulitis, osteomyelitis, and even compartment syndrome. We present a rare case of iatrogenic calcinosis cutis complicated by compartment syndrome secondary to extravasation of iv calcium gluconate in a neonate. Emergent fasciotomy was performed twice for decompression of compartment syndrome. Histologic findings revealed necrosis and calcification. Appropriate antibiotics were administered to control secondary infection. To the best of our knowledge, there were no previous case reports of calcinosis cutis with compartment syndrome in infants. Although iatrogenic calcinosis cutis is generally a benign entity, the early recognition of the presentation of extravasation of calcium gluconate is important to avoid severe complications and possible medical malpractice disputes. This report aims to raise doctors' awareness of the presentation, course, and management of this relatively rare iatrogenic complication.

  17. The prevalence of frontal sinus aplasia in Mashhad, Northeast of Iran

    Directory of Open Access Journals (Sweden)

    Masoud Pezeshki Rad

    2009-04-01

    Full Text Available Introduction: There are various reports of the prevalence of frontal sinus aplasia in different geographical areas and ethnic origins. The size and shape of frontal sinus is different among various populations. This study used CT scan images to investigate the frequency of absence of frontal sinuses in adults of northeastern Iran. Materials and Methods: The present study was performed retrospectively on the axial and coronal CT scans of the paranasal sinuses from a series of 588 patients who had referred to CT scan ward of Mashhad Imam Reza hospital without any other sinus pathology. Results: The mean age of patients was 44.39± 19.44 years. Unilateral and bilateral aplasia of frontal sinuses was seen in 36 and 51 patients, respectively. The dominant sinus was in the left side in 68.24% of cases. Conclusion: The lower incidence of frontal sinus aplasia in this particular ethnic and geographical area relative to other populations emphasizes the effect of environmental and genetic factors on the development of frontal sinuses.  

  18. Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal.

    Science.gov (United States)

    Tăbăran, Alexandru-Flaviu; Nagy, Andras Laszlo; Cătoi, Cornel; Morar, Iancu; Tăbăran, Alexandra; Mihaiu, Marian; Bolfa, Pompei

    2015-12-30

    In veterinary medicine congenital abnormalities of the diaphragm and pericardium are rare, idiopathic malformations, being reported mainly in dogs. This report documents an unusual case of developmental defects in a foal consisting of diaphragmatic hernia concurrent with pericardial aplasia. Following a normal delivery, a full term, female Friesian stillborn foal with the placenta was presented for necropsy. External morphological examination indicated a normally developed foal. At necropsy, a large oval defect (approximately 20 × 15 cm in size) was observed in the left-dorsal side of the diaphragm (left lumbocostal triangle). This defect allowed the intestinal loops, spleen and partially the liver to translocate into the thorax. The loops of the left ascending colon, including the pelvic flexure and partially the small intestine covered the cranial and dorsal posterior parts of the heart due to the complete absence of the left pericardium. The remaining pericardium presented as a white, semi-transparent strip, partially covering the right side of the heart. The left lung and the main bronchus were severely hypoplastic to approximately one-fifth the size of their right homologue. The intermediate part of the liver, containing mainly the enlarged quadrate lobe was translocated in the thorax, severely enlarged and showed marked fibrosis. Histologically in the herniated lobes we diagnosed hepatic chronic passive congestion, telangiectasia and medial hypertrophy of blood vessels. Concomitant malformation involving diaphragmatic hernia and pericardial aplasia in horses have not been previously reported. Moreover, this is the first case describing pericardial aplasia in horse.

  19. [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.

  20. ACUTE MYELOGENOUS LEUKEMIA PRESENTING WITH ABRUPT ONSET LEUKEMIA CUTIS IN A YOUNG BOY: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Lohit Kumar

    2015-05-01

    Full Text Available We report an 25 - year - old young male patient who presented with sudden onset multiple generalized skin lesions of dusky erythematous plaques of various size and shape all over the body which tends to bleed on rubbing. Histological evaluation revealed leukemia cutis wit h underlying atypical infiltrate contained atypical myeloid forms consistent with acute myelogenous leukemia (AML. His skin biopsy provided the first evidence of progression to AML. AML presenting with sudden onset leukemia cutis in a young boy is an extr emely rare entity

  1. 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.

  2. Acquired cutis laxa associated with light and heavy chain deposition disease

    Directory of Open Access Journals (Sweden)

    Reena A Majithia

    2018-01-01

    Full Text Available Acquired cutis laxa (ACL is a rare connective tissue disorder characterized by pendulous and coarsely wrinkled skin. There have been few cases of its association to monoclonal immunoglobulin deposition disease (MIDD, which constitutes the light chain (LCDD, heavy chain (HCDD, and light and heavy chain (LHCDD deposition disease. MIDD predominantly involves the kidney. Skin is the next common organ to be affected by HCDD, which presents as ACL. We report the case of a 40-year-old male who presented with ACL associated with LHCDD. The clinical features of ACL in the present case appeared prior to the development of clinical features related to LHCDD.

  3. 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...

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

    DEFF Research Database (Denmark)

    Bultmann-Mellin, Insa; Conradi, Anne; Maul, Alexandra C

    2015-01-01

    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...

  5. X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

    OpenAIRE

    Knight, S.W.; Heiss, N.S.; Vulliamy, T.J.; Greschner, S.; Stavrides, G.; Pai, G.S.; Lestringant, G.; Varma, N.; Mason, P.J.; Dokal, I.; Poustka, A.

    1999-01-01

    Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 305000) has been shown to be caused by mutations in the DKC1 gene. The gene encodes a 514-amino-acid protein, dyskerin, that is homologous to Saccharomyces cerevisiae Cbf5p and rat Nap57 proteins. B...

  6. 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.

  7. 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.

  8. Uterovaginal Anastomosis for Cases of Cryptomenorrhea Due to Cervical Atresia with Vaginal Aplasia: Benefits and Risks.

    Science.gov (United States)

    Zayed, M; Fouad, R; Elsetohy, K A; Hashem, A T; AbdAllah, A A; Fathi, A I

    2017-12-01

    The objective of this study was to assess short-term benefits and risks of utero-vaginal anastomosis done for cases of cryptomenorrhea due to cervical atresia with vaginal aplasia. Prospective study. Surgical procedures were done between December 2013 and September 2015 at the department of Obstetrics and Gynecology, Cairo University Hospital. Five patients who had cryptomenorrhea due to cervical atresia associated with vaginal aplasia were included. Utero-vaginal anastomoses were performed in 2 stages; a stage of McIndoe vaginoplasty and a stage of excision of the atretic cervical tissue and anastomosing the uterus to the neovagina. Follow-up was done by gynecological and ultrasound examination in a duration ranged from 12 to 36 months. Occurrence of regular menstrual flow and relief of the severe cyclic pain. All patients had relief of the severe cyclic pain. Four patients had regular menstrual flow. One patient developed occlusion of the track after 1 year and needed dilatation once. Three patients developed low vaginal stenosis without occlusion of the track. One patient had rectal injury repaired without causing postoperative morbidity. Uterovaginal anastomosis is a promising conservative management option for cervical atresia with vaginal aplasia, which has benefits but is not free of risks. Long-term follow-up is still needed to judge its feasibility. We recommend performing McIndoe vaginoplasty as a starting stage before the anastomosis preferably in a separate setting. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  9. Adrenal and renal corticomedullary junction iron deposition in red cell aplasia

    Energy Technology Data Exchange (ETDEWEB)

    Rakow-Penner, Rebecca; Vasanawala, Shreyas [Stanford University School of Medicine, Department of Radiology, Stanford, CA (United States); Glader, Bert [Stanford University School of Medicine, Department of Pediatric Hematology and Oncology, Stanford, CA (United States); Yu, Huanzhou [Global MR Applied Science Lab, GE Healthcare, Menlo Park, CA (United States)

    2010-12-15

    Iron deposition can occur in the kidneys as a result of hemolysis or extensive iron overload from transfusions. With T2* MRI, renal iron deposition can be visualized. In this report, renal corticomedullary junction iron deposition is noted using T2* MRI in a boy with red cell aplasia. The renal corticomedullary junction iron deposition is an indication of the severity of his iron overload. This is an unusual finding and brings clinical attention to the boy's renal function for further evaluation. (orig.)

  10. Pure Red Cell Aplasia and Hypogammaglobulinemia in a Patient with Thymoma

    Directory of Open Access Journals (Sweden)

    Chen-Sung Lin

    2009-01-01

    Full Text Available Both pure red cell aplasia (PRCA and hypogammaglobulinemia are rarer conditions than myasthenia gravis (MG in thymoma patients. Several articles have discussed the relation between PRCA and thymoma or hypogammaglobulinemia and thymoma, and their proper treatments. Instances of both PRCA and hypogammaglobulinemia in a thymoma patient are few and reported sporadically in the literature. We discuss a 46-year-old woman with thymoma and simultaneous PRCA and hypogammaglobulinemia who achieved complete remission from PRCA after perioperative steroid administration and extended thymectomy, and review the literature.

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

    OpenAIRE

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

    2002-01-01

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

  12. Improving arm function by prosthetic limb replacement in a patient with severe arthrogryposis multiplex congenita.

    Science.gov (United States)

    Salminger, Stefan; Roche, Aidan D; Sturma, Agnes; Hruby, Laura A; Aszmann, Oskar C

    2016-10-05

    In patients with severe bilateral congenital arm deficiencies, even simple activities of daily living, such as feeding, may be major challenges. We report here a case of a patient with arthrogryposis multiplex congenita affecting all 4 extremities, who underwent prosthetic replacement after elective transhumeral amputation of his right functionless arm. A 22-year-old man with arthrogryposis multiplex congenita had severe deficits of his upper limbs. Previous surgeries for upper and lower limbs had enabled this patient to walk without aids; however, his upper limbs remained severely impaired. After prosthetic rehabilitation, including nerve and muscle transfers, a carefully planned elective amputation, signal processing and a comprehensive rehabilitation programme, the patient was able to independently conduct normal activities of daily living that had hitherto been impossible. The Disabilities of the Arm, Shoulder and Hand measure improved from 73.3 to 44.2, the Action Research Arm Test improved from 10 to 18 out of 57 points and the Southampton Hand Assessment Procedure improved from 8 to 23 after prosthetic replacement. Prosthetic replacement can improve upper limb function in patients with severe congenital limb deficiencies. In the case reported here, functional rehabilitation had a positive impact on the patient's quality of life and self-confidence, as he integrated the prosthesis into his body image.

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

    NARCIS (Netherlands)

    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.

    2013-01-01

    Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the

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

    Science.gov (United States)

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

    2008-01-01

    Summary 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. PMID:18669072

  15. Routine treatment of bilateral aplasia of upper lateral incisors by orthodontic space closure without mandibular extractions.

    Science.gov (United States)

    Zimmer, Bernd; Seifi-Shirvandeh, Nasrin

    2009-06-01

    This study aimed to gather statistically validated information on the changes in orthodontic variables in patients with bilateral upper lateral incisor aplasia treated with isolated orthodontic space closure. Data were collected from 25 (15 females, 10 males) consecutively treated, unselected adolescents [mean age at the end of treatment 16.4 years, standard deviation (SD) 1.3] after orthodontic space closure using push-and-pull mechanics (PPM). The changes in the relevant parameters were determined by comparing baseline and final lateral headfilms and casts. Following verification of normal distribution by means of a Kolmogorov-Smirnov test, a two-tailed t-test for related data was performed. SNA, ANB, OcP-NL, OcP-ML, upper space balance, overbite, overjet, bilateral molar relationship, and L1-NB changed significantly (P orthodontic space closure for bilateral upper lateral incisor aplasia using PPM can be regarded as a valid alternative to prosthetic solutions. Long-term use of Class III elastics does not lead to significant changes in relevant orthodontic parameters.

  16. [Postpartum parvovirus B19-associated acute pure red cell aplasia and hemophagocytic syndrome].

    Science.gov (United States)

    Tsuda, H; Shirono, K; Shimizu, K; Shimomura, T

    1995-07-01

    A 30-year-old postpartum woman was admitted to our hospital because of progressive anemia, malaise, night sweating, headache and low grade fever which began 9 days after delivery (day 0). She had normocytic hypochromic anemia accompanied with marked decrease in reticulocytes. In addition, a temporary decrease in platelets and white blood cells especially neutrophils were observed. Bone marrow smears showed an apparent decrease in erythroid cells and the presence of giant proerythroblasts (1.2%) as well as hemophagocytes (1.2%). IgM and IgG antibody against human parvovirus B19 (HPV) was detected on day 22 of the disease although negative results were obtained on day 3. The presence of the virus in the blood on admission was confirmed by dot-blot analysis. Thus, this case was diagnosed as acute pure red cell aplasia and hemophagocytic syndrome caused by HPV infection. This patient had been given iron for iron deficiency anemia before delivery and the iron deficiency was still present after the episode of the present disease although the iron metabolism data was perturbed during the disease. These findings suggest that HPV could cause acute pure red cell aplasia not only in patients with hemolytic anemia but also in patients with iron deficiency anemia or after acute bleeding. Furthermore it is suggested that pancytopenia often observed on HPV infection could be at least partly caused by hemophagocytic syndrome.

  17. Scrofuloderma associated with lupus vulgaris and tuberculosis verrucosa cutis in an immunocompetent boy

    Directory of Open Access Journals (Sweden)

    Angoori Gnaneshwar Rao

    2016-01-01

    Full Text Available Cutaneous tuberculosis is protean and diverse in its clinical manifestations, it usually manifests as a single clinical morphological form. However, three different morphological forms of cutaneous tuberculosis such as scrofuloderma (SFD, lupus vulgaris (LV, and tuberculosis verrucosa cutis (TVC may coexist in the same patient. Herein, we present coexistence of SFD, LV, and TVC in a 14-year-old boy, initially developed SFD in the left axilla and subsequently developed LV of the left elbow followed by TVC involving pubic region. Typical clinical morphology and epithelioid cell granuloma with Langhans giant cells on histopathological examination of the biopsy taken from the plaque of elbow and pubic region corroborated in establishing the diagnosis of SFD, LV, and TVC. The considerable clinical improvement was observed after 12 weeks of instituting four drugs antitubercular treatment.

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

    Science.gov (United States)

    2017-06-01

    AWARD NUMBER: W81XWH-15-1-0099 TITLE: DNA Damage and Oxidative Stress in Dyskeratosis Congenita: Analysis of Pathways and Therapeutic...Oxidative Stress in Dyskeratosis Congenita: Analysis of Pathways and Therapeutic Stategies Using CPISPR and iPSC Model Systems 5c. PROGRAM ELEMENT...NUMBER 6. AUTHOR(S) Frederick Goldman, MD 5d. PROJECT NUMBER Erik Westin, PhD 5e. TASK NUMBER E-Mail: fgoldman@peds.uab.edu 5f. WORK UNIT NUMBER

  19. 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.

  20. Cutis Laxa

    Science.gov (United States)

    ... Study ALL NEWS > Resources First Aid Videos Figures 3D Models Images Infographics Audio Pronunciations The One-Page Manual of Health Quizzes ... Commentary ALL NEWS > Resources First Aid Videos Figures 3D Models Images Infographics Audio Pronunciations The One-Page Manual of Health Quizzes ...

  1. Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

    Science.gov (United States)

    Bhola, Priya T; Hartley, Taila; Bareke, Eric; Boycott, Kym M; Nikkel, Sarah M; Dyment, David A

    2017-06-01

    De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families.

  2. 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.

  3. 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. 2008 Wiley-Liss, Inc.

  4. Transient pure red blood cell aplasia as clinical presentation of congenital hemolytic anemia: a case report.

    Science.gov (United States)

    Figueiredo, Sofia; Pio, Daniela; Martins, Margarida; Seabra, Carlos; Pinhal, Marisol; Parada, Arménia

    2009-06-17

    Hereditary elliptocytosis is a congenital hemolytic anemia characterized by the presence of oval shaped erythrocytes in the peripheral blood. In rare cases, transient pure red blood cell aplasia can be the initial clinical presentation.We report a case of a 27-month-old boy admitted with fever without focus, severe poikilocytic anemia, no evidence of hemolysis, a normocelular bone marrow and negative serological tests for viral infections. One month before admission, he had been treated with phenytoin and valproate after a seizure episode without fever.Analysis of red cell membrane proteins showed a 16% decrease in spectrin levels, also detected in his father and brother, confirming the diagnosis of elliptocytosis.Only his father carried the alpha(LELY) mutation, in trans to the alpha-spectrin mutation.

  5. [Thymoma with Pure Red Cell Aplasia;Report of a Case].

    Science.gov (United States)

    Hayakawa, Masanobu; Oda, Kazuyuki

    2017-09-01

    A thymoma with pure red cell aplasia (PRCA) is relatively rare. A 71-year-old woman complainted of dizziness and her blood cell count showed a severe anemia. She was diagnosed as PRCA by bone marrow aspiration biopsy, which showed marked decrease in number of erythroblasts. In addition, the chest computed tomography revealed a solid tumor in the anterior mediastinum. She underwent extended thymothymectomy through median sternotomy. The resected specimen was 10.5×9.7 cm in diameter. The pathological diagnosis was type AB thymoma of the World Health Organization classification, and Masaoka stage I. Ciclosporin was started to treat PRCA 3 months after the surgery, and she has been well for about 1 year after surgery without recurrence of thymoma or relapse of anemia.

  6. Diagnosis and treatment of thymoma associated with pure red cell aplasia: three cases report

    International Nuclear Information System (INIS)

    Wang Wencai; Xu Wuyin

    2000-01-01

    Objective: To discuss how to diagnose and treat thymoma associated with pure red cell aplasia (PRCA). Methods: Three patients of thymoma associated with PRCA were treated with thymothymectomy, and the local radiotherapy was conducted after operation for avoiding the thymoma reproduction. Determining of their peripheral blood hemoglobin was used to evaluate the postoperation result in PRCA. If PRCA can not be relieved, oral prednisone and cyclosporin A were given. Results: One patient with PRCA was cured, the second patient remained in remission by treatment with prednisone and CsA, and the third patient was in progress. Conclusion: The treatment by means of 'thymothymectomy-local radiotherapy-use of prednisone and CsA', is effective for thymoma associated with PRCA

  7. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.

    Science.gov (United States)

    Ballew, Bari J; Savage, Sharon A

    2013-06-01

    Dyskeratosis congenita (DC) is a cancer-prone inherited bone marrow failure syndrome caused by aberrant telomere biology. The mucocutaneous triad of nail dysplasia, abnormal skin pigmentation and oral leukoplakia is diagnostic, but is not always present; DC can also be diagnosed by the presence of very short leukocyte telomeres. Patients with DC are at high risk of bone marrow failure, pulmonary fibrosis, liver disease, cancer and other medical problems. Germline mutations in one of nine genes associated with telomere maintenance are present in approximately 60% of patients. DC is one among the group of clinically and biologically related telomere biology disorders, including Hoyeraal-Hreidarsson syndrome, Revesz syndrome, Coats plus (also known as cranioretinal microangiopathy with calcifications and cysts) and subsets of aplastic anemia, pulmonary fibrosis, nonalcoholic and noninfectious liver disease and leukemia. The authors review the pathobiology that connects DC and the related telomere biology disorders, methods of diagnosis and management modalities.

  8. p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita

    Directory of Open Access Journals (Sweden)

    Wilson Chun Fok

    2017-08-01

    Full Text Available Dyskeratosis congenita (DC is a bone marrow failure syndrome associated with telomere dysfunction. The progression and molecular determinants of hematopoietic failure in DC remain poorly understood. Here, we use the directed differentiation of human embryonic stem cells harboring clinically relevant mutations in telomerase to understand the consequences of DC-associated mutations on the primitive and definitive hematopoietic programs. Interestingly, telomere shortening does not broadly impair hematopoiesis, as primitive hematopoiesis is not impaired in DC cells. In contrast, while phenotypic definitive hemogenic endothelium is specified, the endothelial-to-hematopoietic transition is impaired in cells with shortened telomeres. This failure is caused by DNA damage accrual and is mediated by p53 stabilization. These observations indicate that detrimental effects of telomere shortening in the hematopoietic system are specific to the definitive hematopoietic lineages. This work illustrates how telomere dysfunction impairs hematopoietic development and creates a robust platform for therapeutic discovery for treatment of DC patients.

  9. X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.

    Science.gov (United States)

    Ismail, Heba M; Rincon, Marielisa

    2014-07-01

    Our objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency. Case report with literature review. A late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, and hyperkalemia. Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal 17-hydroxyprogesterone level. He was diagnosed with 18-hydroxylase deficiency based on low 18-hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months. At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level. An adrenocorticotropic hormone (ACTH) stimulation test revealed low levels of all adrenal cortex products, with an elevated ACTH level. He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita (AHC). His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to other families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing. We report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Our case raises a question unique to the era of assisted reproduction: should routine genetic screening of gamete donors be done for rare but potentially life-threatening conditions?

  10. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

    Science.gov (United States)

    Duverger, Olivier; Carlson, Jenna C; Karacz, Chelsea M; Schwartz, Mary E; Cross, Michael A; Marazita, Mary L; Shaffer, John R; Morasso, Maria I

    2018-01-01

    Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. We further demonstrated that these keratins are produced by ameloblasts and are incorporated into mature human enamel. Using genetic and intraoral examination data from 573 adults and 449 children, we identified several missense polymorphisms in KRT6A, KRT6B and KRT6C that lead to a higher risk for dental caries. Structural analysis of teeth from a PC patient carrying a p.Asn171Lys substitution in keratin-6a (K6a) revealed disruption of enamel rod sheaths resulting in altered rod shape and distribution. Finally, this PC-associated substitution as well as more frequent caries-associated SNPs, found in two of the KRT6 genes, that result in p.Ser143Asn substitution (rs28538343 in KRT6B and rs151117600 in KRT6C), alter the assembly of K6 filaments in ameloblast-like cells. These results identify a new set of keratins involved in tooth enamel formation, distinguish novel susceptibility loci for tooth decay and reveal additional clinical features of pachyonychia congenita.

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

    International Nuclear Information System (INIS)

    Rodriguez, Sonia Pilar; Zuluaga, Claudia Patricia; Uriza, Luis Felipe C; Sanchez M, Jully Mariana

    2008-01-01

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

  12. Clinical presentation of a patient with cutis laxa with systemic involvement: a case report.

    Science.gov (United States)

    Tofolean, Doina Ecaterina; Mazilu, Laura; Stăniceanu, Florica; Mocanu, Liliana; Suceveanu, Andra Iulia; Baz, Radu Octavian; Parepa, Raluca Irinel; Suceveanu, Adrian Paul; Bondari, Simona; Bondari, Dan; Voinea, Felix

    2015-01-01

    Cutis laxa (CL) or elastolysis is a rare inherited or acquired connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds (Mitra et al., 2013). The clinical presentation and the type of inheritance show considerable heterogeneity (Shehzad et al., 2010). We aimed to present the atypical case of a young male patient diagnosed at 36-year-old with CL with systemic involvement. The complex medical history, with a suspected but unconfirmed progeria at nine months, repeated lung and urinary infections, complicated inguinoscrotal hernia, prostatic hypertrophy, bilateral entropion, colorectal diverticula and heart failure, suggested a systemic genetic disease, but the absence of family history made the diagnosis of CL difficult. The skin biopsy and the characteristic features discovered during anatomopathological exam made possible the positive and differential diagnosis, creating the link between the various organ involvement and CL diagnosis. Because of the age of our patient, of normal growth and mental development, and negative family history, we suspected an autosomal dominant form of CL with early onset and severe manifestation. Of course, we cannot exclude a recessive form, due to the heterogeneity of this disease.

  13. Infiltration of porous samples of SiC with Cu-Ti alloys

    International Nuclear Information System (INIS)

    Sanchez, R; Iturriza, I; Ordonez, S; Martinez, V

    2004-01-01

    The necessity of generating new materials with certain properties has led to research on a wide range of ceramic-metal systems, in order to obtain compound materials that combine the attractive properties of ceramics (hardness, rigidity, resistance to wear and corrosion and low density) with the characteristic toughness and ductility of metals. An attractive system is that formed by silicon carbide and copper-based alloys. The copper at 1373 K does not wet the SiC, presenting a wet angle of 140 o and generating a weak union. Additions of Ti to the Cu have been shown to improve the wettability and characteristics of the union. This work studies the infiltration of samples of SiC that contain about 35% porosity. These samples were pre-sinterized at 1650 o C and later infiltrated, at 1400 o C, with Cu-Ti alloys containing 1% to 3% in weight of Ti. An important factor in this process is the decomposition of the SiC resulting from a reaction with the Cu, producing precipitation of C which then reacts with the Ti to form TiC and increase the concentration of Si in the Cu-based alloy (CW)

  14. 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.

  15. Aplasia and agenesis of the frontal sinus in Turkish individuals: a retrospective study using dental volumetric tomography.

    Science.gov (United States)

    Çakur, Binali; Sumbullu, Muhammed A; Durna, Nurhan Bayındır

    2011-04-08

    Agenesis of the paranasal sinuses is an uncommon clinical condition that appears mainly in the frontal (12%) and maxillary (5-6%) sinuses; in some populations, it appears at a higher proportion. This study investigated the prevalence of agenesis of the frontal sinuses using dental volumetric tomography (DVT) in Turkish individuals. The frontal sinuses of 410 patients were examined by DVT scans in the coronal planes for evidence of the absence of the frontal sinuses. A bilateral and unilateral absence of the frontal sinuses was seen in 0.73% and 1.22% of cases, respectively. In one case, both agenesis and aplasia of the frontal sinus was seen (0.24%). The low percentage of frontal sinus agenesis must be considered during pre-surgical planning related to the sinuses. DVT may be used as a diagnostic tool for the examination of frontal sinus aplasia.

  16. 48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

    Directory of Open Access Journals (Sweden)

    Baha Zantour

    2010-01-01

    Full Text Available A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.

  17. 48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

    Science.gov (United States)

    Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

    2010-01-01

    A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family. PMID:20827436

  18. [Nosologic discussion between Fanconi disease and congenital dyskeratosis: 1 case of congenital bone marrow aplasia].

    Science.gov (United States)

    Mseddi, S; Ben Aribia, N; Horchani, R; Elloumi, M; Elghezal, H; Souissi, T

    2006-09-01

    Based on a case report of aplastic anemia associated with malformation, we discuss the diagnostic criteria and the nosologic problem between the 2 principal aplastic anemia accompanied with malformation: Fanconi disease and dyskeratosis congenita. A 19-year-old girl, issued from a third degree consanguineous marriage, was admitted because of anemic and hemorrhagic syndrome. Physical examination showed several malformations: microphtalmia, brownish spots, generalized hyperpigmentation and ungueal dystrophy without mucosal leucoplasia. Statural and ponderal retardation were noted. On the hemogram there was a pancytopenia and on biopsy, the bone marrow was desertic. The caryotype performed on peripheral blood lymphocytes after sensibilisation with mitomycin C revealed chromosomal instability aspects. Based on these clinical and biological features, the diagnosis of hereditary aplastic anaemia was retained. The patient was given norethandrolone. She died 3 months later by septic shock. Coexistence of aplastic anemia with a malformative syndrome suggests most probably an hereditary form of aplastic anemia. Fanconi anemia is the most frequent. It associates characteristic anomalies of the face, with microphtalmia, brownish spots, statural and ponderal retardation, and thumb anomalies. Ungueal dystrophy, mucosal leucoplasia are almost pathognomonic of congenital dyskeratosis. When the malformative syndrome is not characteristic, the cytogenetic study may also fail to make the differential diagnosis, as was the situation in our case.

  19. 48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

    OpenAIRE

    Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

    2010-01-01

    A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochon...

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

    Energy Technology Data Exchange (ETDEWEB)

    Thierry, D.; Bertho, J.M.; Chapel, A.; Gourmelon, P. [Institut de Protection et de Surete Nucleaire, Fountenay-aux-Roses (France)

    2000-05-01

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

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

    International Nuclear Information System (INIS)

    Thierry, D.; Bertho, J.M.; Chapel, A.; Gourmelon, P.

    2000-01-01

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

  2. Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Steiner

    2005-01-01

    Full Text Available Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa, growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD, gerodermia osteodysplastica (GO and wrinkly-skin syndrome (WWS. It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review concerning this diagnosis is also presented.

  3. Myotonia congenita

    Science.gov (United States)

    ... relaxes and the movement becomes normal. Some people experience the opposite effect (paradoxical myotonia) and get worse with ... reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Muscle Disorders ...

  4. Pachyonychia Congenita

    Science.gov (United States)

    ... Institutes of Health Get Email Updates Contact Us Top Utility Nav Community Outreach Publications in Asian Languages ... as this could cause pain and infection. Wearing gloves to protect the hands while doing things like ...

  5. Intralesional Infiltration with Meglumine Antimoniate for the Treatment of Leishmaniasis Recidiva Cutis in Ecuador.

    Science.gov (United States)

    Calvopiña, Manuel; Cevallos, William; Paredes, Yolanda; Puebla, Edison; Flores, Jessica; Loor, Richard; Padilla, José

    2017-11-01

    Meglumine Antimoniate (MA), administered intramuscularly for 21 continuous days is the recommended treatment of leishmaniases in Ecuador. However, because of its toxicity and requirement for intramuscular injections, treatment is frequently abandoned before completion. In addition, therapeutic failure and reactivation are not uncommon. Here we evaluate the efficacy and safety of MA administered intralesionally (IL) in leishmaniasis recidiva cutis (LRC). LRC is a special clinical variant of cutaneous leishmaniasis, characterized by reactivation at the edges of a primary cured lesion, presenting with active papules around the scar. Twenty-one patients were included in the study. All were diagnosed parasitologically by one of three diagnostic methods (smear, culture, and Leishmanin skin test). Each patient received MA intralesionally weekly for 4 weeks. Each papule was infiltrated until complete saturation. On average, patients received 1 mL of MA per administration. The criterion of cure was the complete resolution of the papules. Follow up was performed at 30, 90, and 180 days after treatment. At day 30 after treatment, 19 (90.5%) of 21 patients were clinically cured. The two patients, who did not heal by the fourth application, were cured on the seventh and eighth dose, achieving a clinical cure of 100% without subsequent reactivation. Mild to moderate local pain during infiltration was the only adverse reaction experienced by 81% of patients. In one case, subsequent infiltrations were discontinued because of a local allergic reaction. Complete compliance of patients to treatment and the small volume of drug administered make this method of administering MA an effective, safe, and inexpensive alternative. Consequently, IL could replace intramuscular administration in the treatment of LRC in Ecuador.

  6. Analysis of mutations in Menkes and X-linked cutis laxa patients

    Energy Technology Data Exchange (ETDEWEB)

    Das, S.; Levinson, B.; Gitschier, J. [Univ. of California, San Francisco, CA (United States)] [and others

    1994-09-01

    Menkes disease is an X-linked disorder of copper metabolism. The complex clinical phenotype is attribute to a deficiency of copper-containing enzymes resulting from a defect in copper transport. X-linked cutis laxa (XLCL), a mild, connective tissues disease may also be an allele of Menkes disease. A gene for the Menkes disease locus (MNK) has been isolated and found to code for a copper-transportion ATPase. Deletions in this gene have been observed in only 15-20% of patients by Southern blot analysis. We have analysed the MNK gene for mutations by RT-PCR and chemical cleavage mismatch detection in a group of 12 patients with severe Menkes phenotype and who were normal by Southern analysis. Mutations were observed in ten patients, and in each case, a different, debilitating mutation was present. Mutations that resulted in splicing abnormalities, detected by RT-PCR alone, were observed in six patients and included two splice site changes, a nonsense mutation, a missense mutation, a small duplication and a small deletion. Chemical cleavage analysis of the remaining six patients revealed the presence of one nonsense mutation, two adjacent 5 bp deletions and one missense mutation. A valine/leucine polymorphism was also observed. These findings, combined with the prior observation of large deletions in {approx}15% of patients, suggest that Southern blot hybridization and RT-PCR will identify mutations in the majority of patients. To date, no mutations have been found in 4 XLCL patients in the MNK coding region by chemical cleavage. However in 2 patients Southern blot changes have been detected with a 5{prime} UTR probe, suggesting mutations affecting regulatory elements.

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

    Science.gov (United States)

    Urban, Zsolt; Davis, Elaine C

    2014-01-01

    Cutis laxa (CL), a disease characterized by redundant and inelastic skin, displays extensive locus heterogeneity. Together with geroderma osteodysplasticum and arterial tortuosity syndrome, which show phenotypic overlap with CL, eleven CL-related genes have been identified to date, which encode proteins within 3 groups. Elastin, fibulin-4, fibulin-5 and latent transforming growth factor-β-binding protein 4 are secreted proteins which form elastic fibers and are involved in the sequestration and subsequent activation of transforming growth factor-β (TGFβ). Proteins within the second group, localized to the secretory pathway, perform transport and membrane trafficking functions necessary for the modification and secretion of elastic fiber components. Key proteins include a subunit of the vacuolar-type proton pump, which ensures the efficient secretion of tropoelastin, the precursor or elastin. A copper transporter is required for the activity of lysyl oxidases, which crosslink collagen and elastin. A Rab6-interacting goglin recruits kinesin motors to Golgi-vesicles facilitating the transport from the Golgi to the plasma membrane. The Rab and Ras interactor 2 regulates the activity of Rab5, a small guanosine triphosphatase essential for the endocytosis of various cell surface receptors, including integrins. Proteins of the third group related to CL perform metabolic functions within the mitochondria, inhibiting the accumulation of reactive oxygen species. Two of these proteins catalyze subsequent steps in the conversion of glutamate to proline. The third transports dehydroascorbate into mitochondria. Recent studies on CL-related proteins highlight the intricate connections among membrane trafficking, metabolism, extracellular matrix assembly, and TGFβ signaling. © 2013 Elsevier B.V. All rights reserved.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-09-01

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

  9. A case of pure red cell aplasia during nivolumab therapy for cardiac metastatic melanoma.

    Science.gov (United States)

    Yuki, Akihiko; Takenouchi, Tatsuya; Takatsuka, Sumiko; Ishiguro, Takuro

    2017-12-01

    Nivolumab is an antibody against programmed cell death 1 and functions as an immune checkpoint inhibitor for various malignancies, including unresectable melanomas. Nivolumab causes several immune-related adverse events, which typically include skin rash, pneumonitis, thyroid dysfunction, hepatitis, and colitis; in rare cases, anemia may be present. There are several reports of autoimmune hemolytic anemia that has developed in response to nivolumab; however, there are few reports of pure red cell aplasia (PRCA). We describe a patient who developed PRCA during nivolumab administration. A 70-year-old Japanese woman received nivolumab for cardiac metastasis from malignant melanoma from an unknown site. Twenty-one months after nivolumab administration (31 courses), treatment was discontinued because she developed severe anemia. Blood test results indicated normocytic, normochromic anemia, and reticulocytopenia, but all other components were normal. Bone marrow aspiration showed increased megakaryocytes and decreased erythroblasts; these findings were consistent with PRCA. Anemia improved without recurrence after treatment with corticosteroids and blood transfusions. The steroid dosage was reduced gradually, and to date, the patient has not experienced recurrence of anemia. The tumor decreased in size and the patient has shown a continued response to treatment with decrease in disease for 3 years. Although it is unclear how nivolumab causes PRCA, hematological toxicities have been reported in patients treated with immunotherapy drugs. PRCA might be an unrecognized immune-mediated adverse event that did not manifest during the clinical trial phase.

  10. Simultaneous occurrence of autoimmune hemolytic anemia and pure red cell aplasia.

    Science.gov (United States)

    Adachi, Masaaki

    2016-01-01

    Simultaneous onset of autoimmune hemolytic anemia (AIHA) and pure red cell aplasia (PRCA) is rare and any possible association between these two disorders remains obscure. A 46-year-old previously healthy woman was diagnosed as having AIHA based on severe anemia, positive direct and indirect Coomb's tests, decreased serum haptoglobin, elevated serum LDH, and indirect bilirubin-dominant hyperbilirubinemia. Oral steroid administration (1 mg/kg) and subsequent half-pulse steroid therapy ameliorated the AIHA, but the anemia was unexpectedly prolonged with the low peripheral blood reticulocyte count further decreasing to 0.11%. Bone marrow aspiration revealed a marked decrease in erythroblasts with an M/E ratio of 69.5. Anti-parvovirus B19 IgM antibody and serum B19 viral DNA (10 9 copy/ml) were detected but no other distinct abnormalities which might have caused acquired PRCA were detected. Therefore, she was considered likely to have idiopathic AIHA and acquired PRCA simultaneously. AIHA-mediated erythroblastosis probably raised the parvovirus B19 DNA level to an extraordinary degree and thereby led to severe aplastic crisis, subsequently causing prolonged anemia. Parvovirus B19 infection should be considered in AIHA patients showing unexpectedly low reticulocyte counts.

  11. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.

    Science.gov (United States)

    Sotos, Juan; Miller, Katherine; Corsmeier, Donald; Tokar, Naomi; Kelly, Benjamin; Nadella, Vijay; Zhong, Huachun; Wetzel, Amy; Adler, Brent; Yu, Chack-Yung; White, Peter

    2017-01-01

    We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism. At age 37, she underwent whole exome sequencing (WES) to identify pathogenic variants. WES revealed compound heterozygous variants in DCHS1 (rs145099391:G > A, p.P197L & rs753548138:G > A, p .T2334 M) [RefSeq NM_003737.3], diagnostic of Van Maldergem syndrome (VMS-1). VMS is a rare autosomal disorder reported in only 13 patients, characterized by intellectual disability, typical craniofacial features, auditory malformations, hearing loss, skeletal and limb malformations, brain abnormalities with periventricular neuronal heterotopia and other variable anomalies. Our patient had similar phenotypic abnormalities. She also had hypogonadotropic hypogonadism and amazia. Based on the clinical findings reported, two previously published patients with VMS may also have been affected by hypogonadotropic hypogonadism, but endocrine abnormalities were not evaluated or mentioned. This case highlights an individual with VMS, characterized by compound heterozygous variants in DCHS1 . Our observations may provide additional information on the phenotypic spectrum of VMS, including hypogonadotropic hypogonadism and amazia. However, the molecular genetic basis for endocrine anomalies observed in some VMS patients, including ours, remains unexplained.

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

    International Nuclear Information System (INIS)

    Kim, H.J.; Song, J.W.; Chon, K.-M.; Goh, E.-K.

    2004-01-01

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

  13. Localized orthodontic space closure for unilateral aplasia of lower second premolars.

    Science.gov (United States)

    Zimmer, Bernd; Schelper, Ina; Seifi-Shirvandeh, Nasrin

    2007-04-01

    The present study aimed to determine whether routine orthodontic space closure can be successfully achieved in patients with unilateral aplasia of the lower second premolars without extracting contralateral or opposing teeth. The dental records and lateral cephalograms of 17 consecutively treated subjects (11 females, 6 males) aged between 14.8 and 19.3 years at the end of active treatment (mean 16.1 years) were analysed. The spaces were closed by 'push-and-pull' mechanics (PPM). Pre- and post-treatment data were compared using a Student's t-test. At the end of active treatment, all parameters (ANB, SNA, SNB, ML/NL, U1-NA, L1-NB, overbite and overjet, upper and lower midline, upper and lower space balance) presented mean values close to accepted norms with satisfactory standard deviations (SDs). Five indicators of success changed significantly: (1) Space closure in the aplastic region was achieved. (2) On the aplastic side, a mean mesial molar relationship of 1.12 (SD 0.18) cusp width (cw) was achieved. The mean alteration from pre- to post-treatment was 1.53 cw (SD 0.29, P space and balanced space ratios.

  14. Seudolinfoma cutáneo “B”, variedad Linfocitoma cutis: A propósito de un caso CutaneousB-cell pseudolymphoma, Lymphocytoma cutis variety: Apropos of a case

    Directory of Open Access Journals (Sweden)

    José Manuel Díaz Fernández

    2006-12-01

    Full Text Available Se presenta el caso de una paciente con un seudolinfoma cutáneo de células “B” variedad Linfocitoma cutis, entidad caracterizada por procesos reactivos de la piel que pueden confundirse clínica e histopatológicamente con linfomas malignos auténticos. El mayor reto que se presenta en estos casos espoder diferenciar estas 2 entidades entre sí, pues ambas se consideran el espectro de una misma entidad, lo cual le confiere varias implicaciones diagnósticas, terapéuticas y patogénicas, por lo que los pacientes se deben mantener bajo vigilancia estrecha. Se revisan aspectos inmunopatológicos, histológicos y terapéuticos. Esta es la primera observación de presentación faciales nuestro medio.The case of a patient with a cutaneous B-cell pseudolymphoma, Lymphocytoma cutis variety, an entity characterized by reactive processes of the skin that may be clinical and histopathologically mistaken for authentic malignant lymphomas. The greatest challenge for these cases is to be able to differentiate these 2 entities between themselves, since both are considered as the spectrum of a same entity, which confers various diagnostic, therapeutic and pathogenic implications. That's why, the patients should be under close surveillance. Immunopathological, histological and therapeutic aspects are reviewed. This is the first observation of facial manifestations of these entities in our environment.

  15. Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.

    Science.gov (United States)

    Jyonouchi, S; Forbes, L; Ruchelli, E; Sullivan, K E

    2011-05-01

    Dyskeratosis Congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and cancer predisposition resulting from defective telomere maintenance. The immunologic features of DKC remain under diagnosed and under treated despite the fact that immunodeficiency is a major cause of premature mortality in DKC. This study undertook a retrospective review of 7 DKC patients diagnosed at the Children's Hospital of Philadelphia. In parallel, we reviewed previously reported immunologic findings in DKC patients. Immunologic abnormalities (lymphopenia, low B-cell numbers, hypogammaglobulinemia, and decreased T-cell function) were the most frequent laboratory findings at initial presentation, preceding the development of significant anemia or thrombocytopenia. Recurrent sinopulmonary or opportunistic infections were present in 6/7 patients. Infant-onset patients had more severe immunologic and somatic features (particularly severe enteropathy). In DKC, development of immunologic abnormalities can precede bone marrow failure, highlighting the importance of proper immunodeficiency management to minimize morbidity and premature mortality in this disease. © 2011 John Wiley & Sons A/S.

  16. 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

  17. Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism.

    Science.gov (United States)

    Loureiro, Marta; Reis, Filipa; Robalo, Brígida; Pereira, Carla; Sampaio, Lurdes

    2015-09-28

    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.

  18. 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. Crown Copyright © 2016. Published by Elsevier B.V. All rights reserved.

  19. 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.

  20. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21

    Energy Technology Data Exchange (ETDEWEB)

    Worley, K.C.; Ellison, K.A.; Zhang, Y.H.; Wang, D.F.; Mason, J.; Roth, E.J.; Adams, V.; Fogt, D.D.; Zhu, X.M.; Towbin, J.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1993-05-01

    The adrenal hypoplasia congenita (AHC) and glycerol kinase (GK) loci are telomeric to the Duchenne muscular dystrophy locus in Xp21. The authors developed a pair of yeast artificial chromosome (YAC) contigs spanning at least 1.2 Mb and encompassing the region from the telomeric end of the Duchenne muscular dystrophy (DMD) locus to beyond YHX39 (DXS727), including the genes for AHC and GK. The centromeric contig consists of 13 YACs reaching more than 600 kb from DMD through GK. The telomeric contig group consists of 8 YACs containing more than 600 kb including the markers YHX39 (DXS727) and QST-59 (DXS319). Patient deletion breakpoints in the region of the two YAC contigs define at least eight intervals, and seven deletion breakpoints are contained within these contigs. In addition to the probes developed from YAC ends, they have mapped eight Alu-PCR probes amplified from a radiation-reduced somatic cell hybrid, two anonymous DNA probes, and one Alu-PCR product amplified from a cosmid end, for a total of 26 new markers within this region of 2 Mb or less. One YAC in the centromeric contig contains an insert encompassing the minimum interval for GK deficiency defined by patient deletion breakpoints, and this clone includes all or part of the GK gene. 33 refs., 3 figs., 5 tabs.

  1. 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.

  2. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

    Science.gov (United States)

    Tassabehji, M; Metcalfe, K; Hurst, J; Ashcroft, G S; Kielty, C; Wilmot, C; Donnai, D; Read, A P; Jones, C J

    1998-06-01

    Elastin is the protein responsible for the characteristic elastic properties of many tissues including the skin, lungs and large blood vessels. Loss-of-function mutations in the elastin gene are known to cause the heart defect supravalvular aortic stenosis (SVAS). We and others have identified deletions, nonsense mutations and splice site mutations in SVAS patients that abolish the function of one elastin gene. We have now identified an elastin mutation in a patient with a completely different phenotype, the rare autosomal dominant condition cutis laxa. A frameshift mutation in exon 32 of the elastin gene is predicted to replace 37 amino acids at the C-terminus of elastin by a novel sequence of 62 amino acids. mRNA and immunoprecipitation studies show that the mutant allele is expressed. Electron microscopy of skin sections shows abnormal branching and fragmentation in the amorphous elastin component, and immunocytochemistry shows reduced elastin deposition in the elastic fibres and fewer microfibrils in the dermis. These findings suggest that the mutant tropoelastin protein is synthesized, secreted and incorporated into the elastic matrix, where it alters the architecture of elastic fibres. Interference with cross-linking would reduce elastic recoil in affected tissues and explain the cutis laxa phenotype.

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

    International Nuclear Information System (INIS)

    Barzilai, S.; Nagar, H.; Froumin, N.; Frage, N.; Aizenshtein, M.

    2009-01-01

    Scandia is a thermodynamically stable oxide and could be used as a structural material for a crucible in order to avoid a melt contamination. In the present study wetting experiments of Cu-Al and Cu-Ti melts on Scandia substrate were preformed at 1423 K by a sessile drop method. It was established that Al and Ti additions lead to the improved wetting and that the final contact angle decreases with increasing the additives concentration. For Al containing melts, the contact angle changes gradually with time, and a relatively thick interaction layer, which consists of Al 2 O 3 , Sc 2 O 3 , and metallic channels, was formed at the Sc 2 O 3 /Cu-Al interface. For Ti containing melts, the final contact angle is achieved already during heating, and an extremely thin layer based on a Ti-Sc-O compound was detected by AES at the Sc 2 O 3 /Cu-Ti interface. The results of a thermodynamic analysis, which takes into account the formation free energy of the oxides, involved in the systems, and the thermodynamic properties of the liquid solutions are in a good agreement with the experimental observations. (orig.)

  4. Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

    Directory of Open Access Journals (Sweden)

    Ji Won Koh

    2013-06-01

    Full Text Available X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1, and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1 gene deficiency. It is usually associated with hypogonadotropic hypogonadism, although in rare cases, it has been reported to occur in normal puberty or even central precocious puberty. This study addresses a case in which central precocious puberty developed in a boy with X-linked adrenal hypoplasia congenita who had complete deletion of the genes DAX-1, GK and IL1RAPL1 (Xp21 contiguous gene deletion syndrome. Initially he was admitted for the management of adrenal crisis at the age of 2 months, and managed with hydrocortisone and florinef. At 45 months of age, his each testicular volumes of 4 mL and a penile length of 5 cm were noted, with pubic hair of Tanner stage 2. His bone age was advanced and a gonadotropin-releasing hormone (GnRH stimulation test showed a luteinizing hormone peak of 8.26 IU/L, confirming central precocious puberty. He was then treated with a GnRH agonist, as well as steroid replacement therapy. In Korea, this is the first case of central precocious puberty developed in a male patient with X-linked adrenal hypoplasia congenita.

  5. Diagnóstico prenatal de artrogriposis múltiple congénita Prenatal diagnosis of arthrogryposis multiplex congenita

    Directory of Open Access Journals (Sweden)

    Ivonne Martínez Vidal

    2013-03-01

    Full Text Available La artrogriposis múltiple congénita puede definirse como una displasia articular sistémica, caracterizada por rigidez articular en múltiples localizaciones de forma congénita. Se presenta un caso en el que se diagnosticó prenatalmente este signo clínico, que puede tener múltiples causas subyacentes.Arthrogryposis multiplex congenita may be defined as a systemic articular dysplasia characterized by articular rigidity in a many locations of congenital origin. A case was presented in which this clinical sign was diagnosed at prenatal phase and it may have many underlying causes.

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

    DEFF Research Database (Denmark)

    Dunø, Morten; Colding-Jørgensen, Eskild; Grunnet, Morten

    2004-01-01

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

  7. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

    Science.gov (United States)

    Ejaz, Resham; Lionel, Anath C; Blaser, Susan; Walker, Susan; Scherer, Stephen W; Babul-Hirji, Riyana; Marshall, Christian R; Stavropoulos, Dimitri J; Chitayat, David

    2017-10-01

    Disorders of brain formation can occur from pathogenic variants in various alpha and beta tubulin genes. Heterozygous pathogenic variants in the beta tubulin isotype A gene, TUBB2A, have been recently implicated in brain malformations, seizures, and developmental delay. Limited information is known regarding the phenotypic spectrum associated with pathogenic variants in this gene given the rarity of the condition. We report the sixth individual with a de novo heterozygous TUBB2A pathogenic variant, who presented with a severe neurological phenotype along with unique features of arthrogryposis multiplex congenita, optic nerve hypoplasia, dysmorphic facial features, and vocal cord paralysis, thereby expanding the gene-related phenotype. © 2017 Wiley Periodicals, Inc.

  8. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

    NARCIS (Netherlands)

    Xue, Shifeng; Maluenda, Jérôme; Marguet, Florent; Shboul, Mohammad; Quevarec, Loïc; Bonnard, Carine; Ng, Alvin Yu Jin; Tohari, Sumanty; Tan, Thong Teck; Kong, Mung Kei; Monaghan, Kristin G.; Cho, Megan T.; Siskind, Carly E.; Sampson, Jacinda B.; Rocha, Carolina Tesi; Alkazaleh, Fawaz; Gonzales, Marie; Rigonnot, Luc; Whalen, Sandra; Gut, Marta; Gut, Ivo; Bucourt, Martine; Venkatesh, Byrappa; Laquerrière, Annie; Reversade, Bruno; Melki, Judith

    2017-01-01

    Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we

  9. Associação entre aplasia segmentar de veia safena magna e varizes em membros inferiores avaliada pelo ecocolor Doppler

    Directory of Open Access Journals (Sweden)

    Amélia Cristina Seidel

    2015-09-01

    Full Text Available ResumoContextoHá diferenças individuais no diâmetro da veia safena magna (VSM em membros normais e doentes; sendo possível a identificação dessas alterações pelo ecocolor Doppler.ObjetivoAvaliar a associação da aplasia segmentar da VSM com a presença de varizes e/ou insuficiência da mesma em membros inferiores, usando o ecocolor Doppler em pacientes com clínica de doença venosa crônica (DVC.Métodos1.408 pacientes com queixas compatíveis de DVC de membros inferiores, sendo 1.286 do sexo feminino, com idade entre 17 e 85 anos, examinados com ecocolor Doppler. Foram incluídos aqueles com classificação CEAP clínica C0 a C4. Pela avaliação clínica, a amostra foi distribuída em grupo A, pacientes com varizes, e grupo B, aqueles sem varizes. O ecocolor Doppler determinou se havia aplasia da VSM pela análise do seu trajeto no compartimento safeno e presença de veias varicosas nos diferentes sítios. Para estatística, foram considerados os testes Qui-quadrado ou Exato de Fisher e uma análise de resíduos em tabelas, com nível de significância de 5%.ResultadosNo grupo A houve 479 (83,9% de VSM insuficientes, 169 (38,2% com aplasia e 71 (80,7% com insuficiência e aplasia associadas. No grupo B, houve 92 (16,1% de VSM insuficientes, 273 (61,8% com aplasia e 17 (19,3% com insuficiência e aplasia associadas.ConclusãoA aplasia segmentar da VSM ocorre mais em membros inferiores que não apresentam varizes e/ou insuficiência da mesma, mas considerando-se a presença da associação de aplasia e insuficiência, houve maior incidência no grupo de membros que apresentavam varizes.

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

    International Nuclear Information System (INIS)

    De Revel, Th.

    2002-12-01

    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

  11. Treatment of graves' disease with antithyroid drugs in the first trimester of pregnancy and the prevalence of congenital malformation.

    Science.gov (United States)

    Yoshihara, Ai; Noh, JaedukYoshimura; Yamaguchi, Takuhiro; Ohye, Hidemi; Sato, Shiori; Sekiya, Kenichi; Kosuga, Yuka; Suzuki, Miho; Matsumoto, Masako; Kunii, Yo; Watanabe, Natsuko; Mukasa, Koji; Ito, Kunihiko; Ito, Koichi

    2012-07-01

    Several reports have suggested that propylthiouracil (PTU) may be safer than methimazole (MMI) for treating thyrotoxicosis during pregnancy because congenital malformations have been associated with the use of MMI during pregnancy. We investigated whether in utero exposure to antithyroid drugs resulted in a higher rate of major malformations than among the infants born to a control group of pregnant women. We reviewed the cases of women with Graves' disease who became pregnant. The pregnancy outcomes of 6744 women were known, and there were 5967 live births. MMI alone had been used to treat 1426 of the women, and 1578 women had been treated with PTU alone. The 2065 women who had received no medication for the treatment of Graves' disease during the first trimester served as the control group. The remaining women had been treated with potassium iodide, levothyroxine, or more than one drug during the first trimester. The antithyroid drugs were evaluated for associations with congenital malformations. The overall rate of major anomalies in the MMI group was 4.1% (50 of 1231), and it was significantly higher than the 2.1% (40 of 1906) in the control group (P = 0.002), but there was no increase in the overall rate of major anomalies in the PTU group in comparison with the control group (1.9%; 21 of 1399; P = 0.709). Seven of the 1231 newborns in the MMI group had aplasia cutis congenita, six had an omphalocele, seven had a symptomatic omphalomesenteric duct anomaly, and one had esophageal atresia. Hyperthyroidism in the first trimester of pregnancy did not increase the rate of congenital malformation. In utero exposure to MMI during the first trimester of pregnancy increased the rate of congenital malformations, and it significantly increased the rate of aplasia cutis congenita, omphalocele, and a symptomatic omphalomesenteric duct anomaly.

  12. Familial athrogryposis multiplex congenita in Gusau, Nigeria: Case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Bilkisu Ilah Garba

    2017-01-01

    Full Text Available Arthrogryposis multiplex congenita (AMC is characterized by contractions of multiple joints present at birth with fat or fibrous tissue partially or totally replacing muscles. The etiology is from the interplay of genetic and environmental factors. A 2-day-old male term neonate presented with a history of multiple contractures in all limbs since birth, fever, and vomiting of 1-day duration. An older sibling, a male child had similar multiple contractures in all limbs and died a few days after birth. A maternal aunt had a male child with multiple contractures of all limbs who also died a few days after birth. Parents are young and not related. Our case had multiple contractures and specific posture involving all the limbs; however no cardiac or neurological abnormality was observed. He was managed as a case of neonatal sepsis with AMC (likely X-linked with antibiotics and had plaster of Paris applied on the lower limbs. He did well and was discharged home to be followed up at the clinic. He, however, did not come for follow-up and died at home at the age of 10 weeks. Arthrogryposis is a common congenital presentation which requires comprehensive musculoskeletal evaluation and genetic consultation. Early rehabilitation requires the involvement of the parents or guardians and a multidisciplinary approach. This is to optimize possibility of making a diagnosis and providing parents with accurate information regarding the likelihood of recurrence. However, accurate information on recurrence is only possible when the cause of the AMC in any patient/family under investigation is identified.

  13. A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle.

    Science.gov (United States)

    Agerholm, Jørgen S; McEvoy, Fintan J; Menzi, Fiona; Jagannathan, Vidhya; Drögemüller, Cord

    2016-06-30

    Bovine arthrogryposis multiplex congenita (AMC) is a syndromic term for a congenital condition characterized by multiple joint contractures. Rare inherited forms of bovine AMC have been reported in different breeds. For AMC in Angus cattle a causative genomic deletion encompassing the agrin (AGRN) gene, encoding an essential neural regulator that induces the aggregation of acetylcholine receptors (AChRs), is known. In 2015, three genetically related cases of generalized AMC affecting Red dairy calves were diagnosed in Denmark. The family history of three affected calves suggested an autosomal recessive inheritance. Single nucleotide polymorphism (SNP) genotyping showed a single genomic region of extended homozygosity of 21.5 Mb on chromosome 19. Linkage analysis revealed a maximal parametric LOD score of 1.8 at this region. By whole genome re-sequencing of the three cases, two private homozygous non-synonymous variants were detected in the critical interval. Both variants, located in the myosin phosphatase Rho interacting protein (MPRIP) and the cholinergic receptor nicotinic beta 1 subunit gene (CHRNB1), were perfectly associated with the AMC phenotype. Previously described CHRNB1 variants in humans lead to a congenital myasthenic syndrome with impaired neuromuscular transmission. The cattle variant represents a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein. This study provides the first phenotypically and genetically characterized example of a bovine AMC phenotype that represents an inherited neuromuscular disorder corresponding to human congenital myasthenic syndrome. The identified CHRNB1 loss of function variant is predicted to have a deleterious effect on fetal AChR function, which could explain the lethal phenotype reported in this study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of

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

    Science.gov (United States)

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

    2017-03-01

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

  15. Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

    Science.gov (United States)

    Renard, Marjolijn; Holm, Tammy; Veith, Regan; Callewaert, Bert L; Adès, Lesley C; Baspinar, Osman; Pickart, Angela; Dasouki, Majed; Hoyer, Juliane; Rauch, Anita; Trapane, Pamela; Earing, Michael G; Coucke, Paul J; Sakai, Lynn Y; Dietz, Harry C; De Paepe, Anne M; Loeys, Bart L

    2010-01-01

    Fibulin-4 is a member of the fibulin family, a group of extracellular matrix proteins prominently expressed in medial layers of large veins and arteries. Involvement of the FBLN4 gene in cardiovascular pathology was shown in a murine model and in three patients affected with cutis laxa in association with systemic involvement. To elucidate the contribution of FBLN4 in human disease, we investigated two cohorts of patients. Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. In a second group of 22 patients presenting with arterial tortuosity, stenosis and aneurysms, FBLN4 mutations were identified in three patients, two homozygous missense mutations (p.Glu126Lys and p.Ala397Thr) and compound heterozygosity for missense mutation p.Glu126Val and frameshift mutation c.577delC. Immunoblotting analysis showed a decreased amount of fibulin-4 protein in the fibroblast culture media of two patients, a finding sustained by diminished fibulin-4 in the extracellular matrix of the aortic wall on immunohistochemistry. pSmad2 and CTGF immunostaining of aortic and lung tissue revealed an increase in transforming growth factor (TGF)β signaling. This was confirmed by pSmad2 immunoblotting of fibroblast cultures. In conclusion, patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis. This confirms the important role of fibulin-4 in vascular elastic fiber assembly. Furthermore, we provide the first evidence for the involvement of altered TGFβ signaling in the pathogenesis of FBLN4 mutations in humans. PMID:20389311

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

    Science.gov (United States)

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

    2016-01-01

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

  17. 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

  18. Synergetic Effect of Graphene and MWCNTs on Microstructure and Mechanical Properties of Cu/Ti3SiC2/C Nanocomposites

    Science.gov (United States)

    Jiang, Xiaosong; Song, Tingfeng; Shao, Zhenyi; Liu, Wanxia; Zhu, Degui; Zhu, Minhao

    2017-11-01

    Multi-walled carbon nanotubes (MWCNTs) and graphenes have been taken for novel reinforcements due to their unique structure and performance. However, MWCNTs or graphenes reinforced copper matrix composites could not catch up with ideal value due to reinforcement dispersion in metal matrix, wettability to metal matrix, and composite material interface. Taking advantage of the superior properties of one-dimensional MWCNTs and two-dimensional graphenes, complementary performance and structure are constructed to create a high contact area between MWCNTs and graphenes to the Cu matrix. Mechanical alloying, hot pressing, and hot isostatic pressing techniques are used to fabricate Cu matrix self-lubricating nanocomposites. Effects of MWCNTs and graphenes on mechanical properties and microstructures of Cu/Ti3SiC2/C nanocomposites are studied. The fracture and strengthening mechanisms of Cu/Ti3SiC2/C nanocomposites are explored on the basis of structure and composition of Cu/Ti3SiC2/C nanocomposites with formation and function of interface.

  19. Methimazole Induced Total Myeloid Aplasia with Delayed Recovery Despite Granulocyte Colony Stimulating Factor (G-CSF): Marrow Progenitor Recovery Kinetics.

    Science.gov (United States)

    Sarker, Tania; Özgönenel, Bülent; Gadgeel, Manisha; Buck, Steven; Adhikari, Amita; Ravindranath, Yaddanapudi

    2016-06-01

    An eighteen-year-old female with Graves thyrotoxicosis presented with methimazole-induced agranulocytosis and total myeloid aplasia. The bone marrow at presentation showed complete absence of myeloid precursors and striking plasmacytosis. 16 days later, myeloid precursors were still absent morphologically; however bone marrow flow cytometry and cell culture detected an improvement in myelogenesis, which was soon followed by clinical recovery of agranulocytosis. Neutrophil recovery was delayed until day 22 after cessation of methimazole despite G-CSF use, consistent with a direct toxic effect on committed myeloid cells. Our findings suggest that cell culture and flow cytometric evaluation of bone marrow myeloid progenitors can be used as a guide to anticipate neutrophil recovery.

  20. 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.

  1. 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.

  2. Third Party Cord Blood Transplant Boosts Autologous Hematopoiesis in a Case of Persistent Bone Marrow Aplasia after Double Transplant Failure for B-Thalassemia Major

    OpenAIRE

    Visani, Giuseppe; Picardi, Paola; Guiducci, Barbara; Loscocco, Federica; Giardini, Claudio; Lucesole, Moira; Barulli, Sara; Ricciardi, Teresa; Isidori, Alessandro

    2013-01-01

    A 9-year-old female received an allogeneic stem cell transplant (SCT) from an ABO-incompatible HLA-matched sibling for ?-thalassemia major, without achieving a complete donor chimerism. Subsequently, the patient received five donor lymphocyte infusions, without increasing donor chimerism, and autologous SCT. Due to the persistent bone marrow aplasia, the patient received a second allogeneic SCT from the same donor without obtaining any engrafment. After the double transplant failure, we perfo...

  3. Double inter-internal carotid artery communication through intercavernous anastomosis and posterior communicating artery associated with multiple intracranial artery segmental agenesis/aplasia.

    Science.gov (United States)

    Park, Yae Won; Yoo, Joonsang; Kim, Dong Joon

    2018-02-01

    Segmental internal carotid artery (ICA) and basilar artery (BA) agenesis/aplasia are rare vascular anomalies. We report an extremely rare case of combined ICA, BA, and A1 segmental absence presenting with double inter-ICA collateral communication through the intercavernous anastomosis and posterior communicating arteries. The patient presented with diplopia and transient ischemic attack. The pathogenesis of the anatomic anomalies and clinical symptoms are discussed.

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

    Directory of Open Access Journals (Sweden)

    Marco L Davila

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

  5. [Thymoma Associated with Pure Red Cell Aplasia Treated with Ciclosporin as Remission-induction Therapy before Thymectomy].

    Science.gov (United States)

    Kawakami, Toru; Ishida, Itaru; Yoshimura, Ryuichi; Sugawara, Takafumi; Oura, Hiroyuki; Miyairi, Yasuro

    2015-06-01

    A thymoma with pure red cell aplasia( PRCA) is relatively rare, and the treatment of the disease has not established yet. We describe a case of a thymoma associated with PRCA treated with a surgery and remission-induction therapy by ciclosporin. An 80-year-old man complained of dizziness and his blood cell count showed a severe anemia. He was diagnosed as PRCA by bone-marrow aspiration biopsy, which showed abatement of erythroblasts. In addition, the chest computed tomography revealed a solid tumor in the anterior mediastinum, strongly suggesting a thymoma. Oral administration of ciclosporin as remission-induction therapy for PRCA was started at 1st. The treatment contributed to partial remission for PRCA without blood transfusion. Consecutively thymectomy through median sternotomy was performed at 6 weeks after initiation of the treatment without any transfusions or complications. Histology of the solid tumor showed the thymoma of type B2 in World Health Organization (WHO) category. We continued to treat PRCA with ciclosporin after the surgery. The patient has been surviving for 2 years after surgery without any recurrence of thymoma or relapse of anemia. Combined therapy of surgery and remission-induction therapy with ciclosporin assumed to be a good strategy of the treatment for the patient with a thymoma associated with PRCA.

  6. Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins

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    Cristina Olivieri

    2017-10-01

    Full Text Available Dyskeratosis congenita (DC is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia, pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS, also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1. Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It’s possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in DKC1 or in genes responsible for autosomal DC/HHS.

  7. Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing.

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    Ying Zhang

    Full Text Available Dyskeratosis congenita (DC is a rare bone marrow failure syndrome in which hematopoietic defects are the main cause of mortality. The most studied gene responsible for DC pathogenesis is DKC1 while mutations in several other genes encoding components of the H/ACA RNP telomerase complex, which is involved in ribosomal RNA(rRNA processing and telomere maintenance, have also been implicated. GAR1/nola1 is one of the four core proteins of the H/ACA RNP complex. Through comparative analysis of morpholino oligonucleotide induced knockdown of dkc1 and a retrovirus insertion induced mutation of GAR1/nola1 in zebrafish, we demonstrate that hematopoietic defects are specifically recapitulated in these models and that these defects are significantly reduced in a p53 null mutant background. We further show that changes in telomerase activity are undetectable at the early stages of DC pathogenesis but rRNA processing is clearly defective. Our data therefore support a model that deficiency in dkc1 and nola1 in the H/ACA RNP complex likely contributes to the hematopoietic phenotype through p53 activation associated with rRNA processing defects rather than telomerase deficiency during the initial stage of DC pathogenesis.

  8. Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

    Science.gov (United States)

    Khincha, Payal P; Dagnall, Casey L; Hicks, Belynda; Jones, Kristine; Aviv, Abraham; Kimura, Masayuki; Katki, Hormuzd; Aubert, Geraldine; Giri, Neelam; Alter, Blanche P; Savage, Sharon A; Gadalla, Shahinaz M

    2017-08-13

    Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters. We compared TL measurements (TLMs) by the three most commonly used methods, quantitative polymerase chain reaction (qPCR), flow cytometry with fluorescence in situ hybridization (flow FISH) and Southern blot, in a cohort of patients with the telomere biology disorder dyskeratosis congenita (DC) and in their unaffected relatives (controls). We observed a strong correlation between the Southern blot average TL and the flow FISH total lymphocyte TL in both the DC patients and their unaffected relatives ( R ² of 0.68 and 0.73, respectively). The correlation between the qPCR average TL and that of the Southern blot method was modest ( R ² of 0.54 in DC patients and of 0.43 in unaffected relatives). Similar results were noted when comparing the qPCR average TL and the flow FISH total lymphocyte TL ( R ² of 0.49 in DC patients and of 0.42 in unaffected relatives). In conclusion, the strengths of the correlations between the three widely used TL assays (qPCR, flow FISH, and Southern blot) were significantly different. Careful consideration is warranted when selecting the method of TL measurement for research and for clinical studies.

  9. Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

    Science.gov (United States)

    Khincha, Payal P.; Hicks, Belynda; Jones, Kristine; Aviv, Abraham; Kimura, Masayuki; Katki, Hormuzd; Aubert, Geraldine; Giri, Neelam; Alter, Blanche P.; Savage, Sharon A.; Gadalla, Shahinaz M.

    2017-01-01

    Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters. We compared TL measurements (TLMs) by the three most commonly used methods, quantitative polymerase chain reaction (qPCR), flow cytometry with fluorescence in situ hybridization (flow FISH) and Southern blot, in a cohort of patients with the telomere biology disorder dyskeratosis congenita (DC) and in their unaffected relatives (controls). We observed a strong correlation between the Southern blot average TL and the flow FISH total lymphocyte TL in both the DC patients and their unaffected relatives (R2 of 0.68 and 0.73, respectively). The correlation between the qPCR average TL and that of the Southern blot method was modest (R2 of 0.54 in DC patients and of 0.43 in unaffected relatives). Similar results were noted when comparing the qPCR average TL and the flow FISH total lymphocyte TL (R2 of 0.49 in DC patients and of 0.42 in unaffected relatives). In conclusion, the strengths of the correlations between the three widely used TL assays (qPCR, flow FISH, and Southern blot) were significantly different. Careful consideration is warranted when selecting the method of TL measurement for research and for clinical studies. PMID:28805708

  10. Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.

    Science.gov (United States)

    Sugitani, Hideki; Hirano, Eiichi; Knutsen, Russell H; Shifren, Adrian; Wagenseil, Jessica E; Ciliberto, Christopher; Kozel, Beth A; Urban, Zsolt; Davis, Elaine C; Broekelmann, Thomas J; Mecham, Robert P

    2012-06-22

    Elastin is the extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin. Because the elastin gene has undergone significant changes in the primate lineage, modeling elastin diseases in non-human animals can be problematic. To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the human elastin gene contained in a bacterial artificial chromosome. When expressed as a transgene in mice, mutant elastin was incorporated into elastic fibers in the skin and lung with adverse effects on tissue function. In contrast, only low levels of mutant protein incorporated into aortic elastin, which explains why the vasculature is relatively unaffected in this disease. RNA stability studies found that alternative exon splicing acts as a modifier of disease severity by influencing the spectrum of mutant transcripts that survive nonsense-mediated decay. Our results confirm the critical role of the C-terminal region of tropoelastin in elastic fiber assembly and suggest tissue-specific differences in the elastin assembly pathway.

  11. Alternative Splicing and Tissue-specific Elastin Misassembly Act as Biological Modifiers of Human Elastin Gene Frameshift Mutations Associated with Dominant Cutis Laxa*

    Science.gov (United States)

    Sugitani, Hideki; Hirano, Eiichi; Knutsen, Russell H.; Shifren, Adrian; Wagenseil, Jessica E.; Ciliberto, Christopher; Kozel, Beth A.; Urban, Zsolt; Davis, Elaine C.; Broekelmann, Thomas J.; Mecham, Robert P.

    2012-01-01

    Elastin is the extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin. Because the elastin gene has undergone significant changes in the primate lineage, modeling elastin diseases in non-human animals can be problematic. To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the human elastin gene contained in a bacterial artificial chromosome. When expressed as a transgene in mice, mutant elastin was incorporated into elastic fibers in the skin and lung with adverse effects on tissue function. In contrast, only low levels of mutant protein incorporated into aortic elastin, which explains why the vasculature is relatively unaffected in this disease. RNA stability studies found that alternative exon splicing acts as a modifier of disease severity by influencing the spectrum of mutant transcripts that survive nonsense-mediated decay. Our results confirm the critical role of the C-terminal region of tropoelastin in elastic fiber assembly and suggest tissue-specific differences in the elastin assembly pathway. PMID:22573328

  12. RADIOLOGICAL FINDINGS IN COCHLEAR IMPLANT CASES IN PRELINGUAL DEAFNESS- A STUDY AND ANALYSIS OF MICHEL’S APLASIA AND ITS VARIATIONS

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    Bharathi Mohan Mathan

    2017-04-01

    Full Text Available BACKGROUND The incidence of Prelingual deafness with bilateral profound sensory neural hearing loss varies among different regions with overall prevalence rate of one case per 1000 live births. Overall, there are more than 40 million such children all over the World. Hearing losses may be genetic or non-genetic. Genetic hearing losses (50% may be syndromic (15% or nonsyndromic (35%. Genetic hearing loss may be Autosomal or X-linked, Dominant or Recessive, Syndromic or Non-Syndromic. Adequate radiological assessment and confirmation of select cases is utmost important before proceeding to cochlear implant surgery. This study aims at a statistical analysis of various radiological presentation in bilateral profound sensory neural hearing loss in prelingual deafness children selected for cochlear implant in our Institution for a period of one year from January 2016 to January 2017, with study and analysis of Michel’s Aplasia and its variations included in the study. MATERIALS AND METHODS The study is done as a retrospective study at Vellore Medical College at the ENT Department for a period of one year from Jan 2016- Jan 2017, based on the radiological presentation of 20 children included in the study group with other prior investigations. Interpretation was done based on the inner ear anomalies and individual variations are analysed. Study Design- Retrospective study. RESULTS Radiological analysis of 20 cases included in the study group of Prelingual deafness candidates with bilateral profound sensory neural hearing loss selected for cochlear implant showed that three cases had Michel’s Aplasia with individual radiological variations which were analysed, while other cases had radiologically normal middle and inner ear. CONCLUSION Inner ear anomalies of children with bilateral profound sensory neural hearing loss are variable. Although, incomplete partition type and cochlear Hypoplasia type are common according to International studies, Michel

  13. Appearance of ocular vestibular evoked myogenic potential elicited by bone-conducted vibration in a patient with CHARGE syndrome with aplasia of all semicircular canals.

    Science.gov (United States)

    Zhang, Qing; Kaga, Kimitaka; Takegoshi, Hideki; Matsuda, Takeshi

    2014-03-01

    We report VEMP results in a patient with aplasia of bilateral semicircular canals and a small vestibular cavity. The patient was a 27-year-old male. The computed tomograph showed absolutely no formation of his semicircular canals, together with hypoplasia of his vestibular cavity and cochlea in both ears. His oVEMP was recorded near the extraocular muscles on the left side when elicited by BCV in the Fz. The clinical profile of this patient suggested that oVEMP elicited by BCV recorded near the extraocular muscles originated from otolithic end organs, and not from semicircular canal afferents. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  14. 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

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    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).

  15. Tuberculosis Lymphoedema Cutis

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    Gangopadhyay Asok Kumar

    2001-01-01

    Full Text Available Lymphoedema following cutaneous tuberculosis is a rare occurrence. A case of elephantiasis of leg following lupus vulgaris is presented. It can still be seen in rural India in untreated advanced cutaneous tuberculosis.

  16. A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck.

    Science.gov (United States)

    Cakmak, Seray Külcü; Gönül, Müzeyyen; Kiliç, Arzu; Gül, Ulker; Koçak, Oğuzhan; Demiriz, Murat

    2008-04-01

    Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy, and skin pigmentation. We present a case of DC associated with esophageal stricture, Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck. A 22-year-old man attended our clinic with leukoplakia of the oral mucosa and nail dystrophy. In addition to these findings, poikilodermia on his neck and upper and lower extremities, bilateral ectropion, webbed neck, and low posterior hair neck was detected on dermatologic examination. Esophagoscopy demonstrated esophageal stricture. Cranial magnetic resonance imaging showed tonsillar herniation, and thoracoabdominal computed tomography revealed absence of inferior vena cava.

  17. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.

    Science.gov (United States)

    Imbrici, Paola; Altamura, Concetta; Camerino, Giulia Maria; Mangiatordi, Giuseppe Felice; Conte, Elena; Maggi, Lorenzo; Brugnoni, Raffaella; Musaraj, Kejla; Caloiero, Roberta; Alberga, Domenico; Marsano, Renè Massimiliano; Ricci, Giulia; Siciliano, Gabriele; Nicolotti, Orazio; Mora, Marina; Bernasconi, Pia; Desaphy, Jean-Francois; Mantegazza, Renato; Camerino, Diana Conte

    2016-10-01

    Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. We report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype in 1 patient, located in the extracellular I-J loop. The purpose of this study was to provide a solid correlation between T335N dysfunction and clinical symptoms in the affected patient as well as to offer hints for drug development. Our multidisciplinary approach includes patch-clamp electrophysiology on T335N and ClC-1 wild-type channels expressed in tsA201 cells, Western blot and quantitative PCR analyses on muscle biopsies from patient and unaffected individuals, and molecular dynamics simulations using a homology model of the ClC-1 dimer. T335N channels display reduced chloride currents as a result of gating alterations rather than altered surface expression. Molecular dynamics simulations suggest that the I-J loop might be involved in conformational changes that occur at the dimer interface, thus affecting gating. Finally, the gene expression profile of T335N carrier showed a diverse expression of K + channel genes, compared with control individuals, as potentially contributing to the phenotype. This experimental paradigm satisfactorily explained myotonia in the patient. Furthermore, it could be relevant to the study and therapy of any channelopathy.-Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. M., Ricci, G., Siciliano, G., Nicolotti, O., Mora, M., Bernasconi, P., Desaphy, J.-F., Mantegazza, R., Camerino, D. C. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies. © The Author(s).

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

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    Carlos Augusto Alencar Júnior

    1998-09-01

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

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

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    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.

  20. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

    Science.gov (United States)

    Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Beyhan; Ruddy, Deborah M; Wakeling, Emma; Ørstavik, Karen Helene; Snape, Katie M; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura; Zenker, Martin

    2015-06-01

    Adams-Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by additional cardiovascular or neurological features. Both autosomal-dominant and autosomal-recessive disease transmission have been observed, with recent gene discoveries indicating extensive genetic heterogeneity. Mutations of the DOCK6 gene were first described in autosomal-recessive cases of AOS and only five DOCK6-related families have been reported to date. Recently, a second type of autosomal-recessive AOS has been attributed to EOGT mutations in three consanguineous families. Here, we describe the identification of 13 DOCK6 mutations, the majority of which are novel, across 10 unrelated individuals from a large cohort comprising 47 sporadic cases and 31 AOS pedigrees suggestive of autosomal-recessive inheritance. DOCK6 mutations were strongly associated with structural brain abnormalities, ocular anomalies, and intellectual disability, thus suggesting that DOCK6-linked disease represents a variant of AOS with a particularly poor prognosis. © 2015 WILEY PERIODICALS, INC.

  1. An RNA-splicing mutation (G{sup +51VS20}) in the Type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

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    Tiller, G.E.; Polumbo, P.A. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States); Weis, M.A.; Eyre, D.R. [Univ. of Washington, Seattle, WA (United States); Gruber, H.E.; Rimoin, D.L.; Cohn, D.H. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)]|[Univ. of California School of Medicine, Los Angeles, CA (United States)

    1995-02-01

    Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal {alpha}1(II) collagen chains and chains that lacked amino acids 256-273 of the triple-helical domain. PCR amplification of this region of COL2A1, from genomic DNA, yielded products of normal size, while amplification of cDNA yielded a normal sized species and a shorter fragment missing exon 20. Sequence analysis of genomic DNA from the fetus revealed a G{yields}T transversion at position +5 of intron 20; the affected father was also heterozygous for the mutation. Allele-specific PCR and heteroduplex analysis of a VNTR in COL2A1 independently confirmed the unaffected status of a fetus in a subsequent pregnancy. Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U{sub 1} small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. Electron micrographs of diseased cartilage showed intracellular inclusion bodies, which were stained by an antibody to {alpha}1(II) procollagen. Our findings support the hypothesis that {alpha}-chain length alterations that preserve the Gly-X-Y repeat motif of the triple helix result in partial intracellular retention of {alpha}1(II) procollagen and produce mild to moderate chondrodysplasia phenotypes. 50 refs., 6 figs., 1 tab.

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

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    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.

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

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    Sílvia Pimenta de Carvalho

    2003-10-01

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

  4. 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.

    2013-01-01

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

  5. 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. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Pachyonychia Congenita and Mental Deficiency

    Directory of Open Access Journals (Sweden)

    V Ramesh

    1988-01-01

    Full Text Available Pachyonychia congenital was seen in two different families. In one family the disease was present in only one child, while in the other family the disease was traceable in 5 generations involving 36 members. One individual had associated mental retardation.

  7. MRI findings of congenita dysosmia

    International Nuclear Information System (INIS)

    You Hui; Feng Feng; Liu Jianfeng; Wu Xueyan; Wang Jian; Ni Daofeng; Sun Hongyi; Chen Jun; Jin Zhengyu

    2009-01-01

    Objective: To study the MRI findings of congenital dysosmia. Methods: Forty-seven patients with congenital dysosmia (39 with Kallmann syndrome and 8 with isolated dysosmia) and 21 normal volunteers underwent MRI examination. The features of congenital malformation were recorded. The volume of olfactory bulbs, depth of olfactory sulci as well as diameters of pituitary glands and stalks were measured. The rate of dysplasia of olfactory bulbs and tracts in the two patients groups was compared with X 2 test. The difference of volume of olfactory bulbs between the two groups was evaluated with nonparametric test. And the difference of diameters of pituitary glands and stalks was analyzed with analysis of variance. Results: All the patients had abnormal findings in olfactory bulbs, tracts and/or olfactory sulci on MR images. The patterns of congenital malformation may be dysplastic of hypoplastic, symmetric or asymmetric. The proportion of patients with dysplasia of olfactory bulbs and tracts in Kallmann syndrome patients (31/39) was higher than that in isolated dysosmia ones (2/8) (X 2 = 6.998, P =0.008), and the olfactory bulbs'volume of patients with Kallmann syndrome (median 8 mm 3 ) was smaller than that of patients with isolated dysosmia (median 22 mm 3 ) (Z = -2.902, P =0.004). The pituitary glands were smaller and the stalks were thinner in patients with Kallmann syndrome than those in volunteers [ the anteroposterior diameter of pituitary glands in Kallmann syndrome (7.22 ± 1.93) mm, that in normal volunteers (9.94 ± 1.59) mm, F= 16.835, P =0.000; height of pituitary glands in Kallmann syndrome (3.71 ± 1.74) mm, that in normal volunteers (6.00 ± 1.24) mm, F =16.092, P =0.000; the anteroposterior diameter of pituitary stalks in Kallmann syndrome (1.19 ± 0.55) mm, that in normal volunteers (1.88 ± 0.49) mm, F =13.060, P =0.000]. Conclusions: In congenital dysosmic patients, dysplasia or hypoplasia of olfactory bulbs, tracts and sulci can be clearly depicted on MR images. MR imaging is valuable for clinical diagnosis and treatment. (authors)

  8. Genetics Home Reference: anonychia congenita

    Science.gov (United States)

    ... of cells to one another (adhesion), cell movement (migration), and many other cellular activities. During early development, ... a personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data ...

  9. An Exceptional Case of Complete Septate Uterus With Unilateral Cervical Aplasia (Class U2bC3V0/ESHRE/ESGE Classification) and Isolated Mullerian Remnants: Combined Hysteroscopic and Laparoscopic Treatment.

    Science.gov (United States)

    Di Spiezio Sardo, Attilio; Giampaolino, Pierluigi; Scognamiglio, Marianna; Varelli, Carlo; Nazzaro, Giovanni; Mansueto, Gelsomina; Nappi, Carmine; Grimbizis, Grigoris F

    2016-01-01

    To report the combined hysteroscopic and laparoscopic treatment of a complete septate uterus with unilateral cervical aplasia (class U2bC3V0/ESHRE/ESGE classification) and isolated mullerian remnants. Step-by-step presentation of the surgical treatment (Canadian Task Force classification 4). Complete septate uterus with unilateral cervical aplasia (formally Robert's uterus) is characterized by the presence of a uterine septum completely dividing the endometrial cavity into an obstructed hemicavity and a contralateral nonobstructing hemicavity connected normally to the existing cervix. It has always been described as isolated without any associated anomaly. A 30-year-old woman was referred to our department for dysmenorrhea and primary infertility. Hysterosalpingography showed the presence of a right (RT) hemiuterus with a patent fallopian tube; further evaluation with 2- and 3-dimensional ultrasound and magnetic resonance imaging showed an externally normal-appearing uterus, a right normal hemicavity connected normally with the existed cervix and, a left hemicavity fully divided from the right one by a complete septum and not connected with the cervix. Interestingly, a peculiar complex mass with cystic areas, attached posterolaterally from the left side to the uterine wall at the level of the isthmus and the upper cervix, was also diagnosed. The study protocol was approved by our local institutional review board. During outpatient hysteroscopy, a right uterine hemicavity with a single ostium was identified without any communication with the left hemicavity. The patient was then scheduled for combined laparoscopic and hysteroscopic treatment. During laparoscopy, a normal uterine body with multiple myomas and a pseudocystic lesion attached posteriorly and left laterally to the uterus at the level of the isthmus and the upper cervix were shown; no communication between the cystic part of that lesion and the isthmus or the cervicovaginal canal was observed. During

  10. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease carrying a new mutation in the CLCN1 gene

    Directory of Open Access Journals (Sweden)

    Fernando Morales

    2008-03-01

    Full Text Available Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The clinical diagnosis was established using ocular, cardiac, neurological and electrophysiological tests and the molecular diagnosis was done by PCR, SSCP and sequencing of the CLCN1 gene. The proband and the other affected individuals exhibited proximal and distal muscle weakness but no hypertrophy or muscular pain was found. The myotatic reflexes were lessened and sensibility was normal. Electrical and clinical myotonia was found only in the sufferers. Slit lamp and electrocardiogram tests were normal. Two affected probands presented diminution of the sensitive conduction velocities and prolonged sensory distal latencies. The clinical spectrum for this family is in agreement with a clinical diagnosis of Becker myotonia. This was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P was found in the family and absent in 200 unaffected chromosomes. No latent myotonia was found in this family; therefore the ability to cause this subclinical sign might be intrinsic to each mutation. Implications of the structure-function-genotype relationship for this and other mutations are discussed. Adequate clinical diagnosis of a neuromuscular disorder would allow focusing the molecular studies toward the confirmation of the initial diagnosis, leading to a proper clinical management, genetic counseling and improving in the quality of life of the patients and relatives. Rev. Biol. Trop. 56 (1: 1-11. Epub 2008 March 31.La miotonía congénita es una enfermedad muscular caracterizada por miotonía, hipertrofia y rigidez. Se presenta con dos patrones de herencia, autosómica dominante en cuyo

  11. The C-terminal extension unique to the long isoform of the shelterin component TIN2 enhances its interaction with TRF2 in a phosphorylation- and dyskeratosis congenita-cluster-dependent fashion.

    Science.gov (United States)

    Nelson, Nya D; Dodson, Lois M; Escudero, Laura; Sukumar, Ann T; Williams, Christopher L; Mihalek, Ivana; Baldan, Alessandro; Baird, Duncan M; Bertuch, Alison A

    2018-03-26

    TIN2 is central to the shelterin complex, linking the telomeric proteins TRF1 and TRF2 with TPP1/POT1. Mutations in TINF2 , which encodes TIN2, that are found in dyskeratosis congenita (DC) result in very short telomeres and cluster in a region shared by the two TIN2 isoforms, TIN2S (short) and TIN2L (long). Here we show that TIN2L, but not TIN2S, is phosphorylated. TRF2 interacts more with TIN2L than TIN2S, and both the DC-cluster and phosphorylation promote this enhanced interaction. The binding of TIN2L, but not TIN2S, is affected by TRF2-F120, which is also required for TRF2's interaction with end processing factors such as Apollo. Conversely, TRF1 interacts more with TIN2S than with TIN2L. A DC-associated mutation further reduces TIN2L-TRF1, but not TIN2S-TRF1, interaction. Cells overexpressing TIN2L or phosphomimetic-TIN2L are permissive to telomere elongation, whereas cells overexpressing TIN2S or phosphodead-TIN2L are not. Telomere lengths are unchanged in cell lines in which TIN2L expression has been eliminated by CRISPR/Cas9-mediated mutation. These results indicate that TIN2 isoforms are biochemically and functionally distinguishable, and that shelterin composition could be fundamentally altered in patients with TINF2 mutations. Copyright © 2018 Nelson et al.

  12. 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.

  13. 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.

  14. Outcome of neonatal surgeries in Nnewi, Nigeria

    African Journals Online (AJOL)

    Prune belly syndrome. 2 (1.4). Neonatal testicular torsion. 2 (1.4). Vaginal atresia. 1 (0.7). Musculoskeletal. Abscesses. 6 (4.1). Congenital cutis aplasia. 2 (1.4). Tumours. Sacrococcygeal teratoma. 4 (2.7). Cystic hygroma. 2 (1.4). Cervical teratoma. 2 (1.4). Total. 147 (100.0). Outcome of neonatal surgeries Ekwunife et al.

  15. Calcinosis Cutis Long after Rhinoplasty with Silicone

    Science.gov (United States)

    Honda, Yuki; Tanizaki, Hideaki; Otsuka, Atsushi; Miyachi, Yoshiki; Kabashima, Kenji

    2014-01-01

    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. PMID:25685132

  16. 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.

  17. Clinical Transcriptomics in Systemic Vasculitis (CUTIS)

    Science.gov (United States)

    2018-04-10

    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

  18. 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.

  19. ''Cutie Pie,'' A portable radiation instrument

    CERN Document Server

    Ballou, C O

    1947-01-01

    A portable beta and gamma radiation meter of exceedingly small dimensions and weight has been developed. User acceptance has been more enthusiastic than any previous instrument of its type. The circuit, using one Victoreen V-32 tube, is the simplest electronic circuit possible for radiation work and gives high sensitivity. Stability exceeds anything of comparable sensitivity which has come to our attention. The short term stability is due to a circuit which prevents emission before the cathode reaches operating temperature. Long term stability has been improved by evacuating the tube enclosure and switch. The complete, one unit instrument, weighs four pounds two ounces, and is carried with a pistol grip. Exclusive of chamber and handle, its dimensions are 3'' wide, 6 1/2'' long, and 5'' high. The case is formed of aluminum and is designed to give excellent visibility of the meter. Three ranges of approximately 50, 500 and 5000 mr/hr have been incorporated in the instruments. The instrument has been named ''Cu...

  20. Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

    OpenAIRE

    Choi, Yeon-Chul; Yum, Mi-Sun; Kim, Min-Jee; Lee, Yun-Jung; Ko, Tae-Sung

    2016-01-01

    Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the...

  1. Total aplasia of the paranasal sinuses

    OpenAIRE

    Korkmaz, Hakan; Korkmaz, Mukadder

    2013-01-01

    Although a variety of theories have been proposed about functions of the paranasal sinuses, not one is clear today. Nonetheless, paranasal sinus?related diseases are associated with a high rate of morbidities. Therefore, it is essential to identify the structure and pathophysiology of the paranasal sinuses. Computed tomography (CT) is a valuable tool displaying anatomic variations and diseases. Because paranasal sinus development is a complex and long-lasting process, there are great structur...

  2. Autosomal Recessive Myotonia Congenita, A Muscle ...

    African Journals Online (AJOL)

    Background: The muscle diseases are frequently encountered in medical clinics in Nigeria. In many cases however they are not optimally managed. The ion channel diseases, 'channelopathies', are a group of muscle disorders that share a lot of clinical similarity. Misdiagnosis can occur especially in resource poor settings ...

  3. [Macrocephaly-capillary malformation. A neonatal case].

    Science.gov (United States)

    Coste, K; Sarret, C; Cisse, A; Delabaere, A; Francannet, C; Vanlieferinghen, P

    2012-09-01

    Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities. Since 2007, this syndrome has been renamed macrocephaly-capillary malformation. The pregnancy was marked by polyhydramnios associated with fetal macrosomia and macrocephaly. Clinical examination of the newborn confirmed overgrowth, macrocephaly, and found skin abnormalities with diffuse marbled skin, filtrum and upper lip vascular anomaly, and several superficial capillary malformations on the chest and abdomen, partial bilateral syndactyly between the 2nd and 3rd toes, and right hemi-hypertrophy of the body. Brain magnetic resonance imaging showed moderate right hemimegalencephaly. Radiological examination of the skeleton showed asymmetry of the limbs. At 8 months, the medical follow-up confirmed the diagnosis and its neurosurgical treatment of hydrocephalus secondary to an Arnold Chiari malformation. The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly, and body asymmetry. We describe the major components of this multiple malformative syndrome that is rarely reported in the pediatric literature, especially in newborns. This syndrome should be detected early because medical multidisciplinary follow-up is necessary to prevent different complications (neurological, orthopedic, or oncologic). Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  4. Pneumococcal vaccine failure: can it be a primary immunodeficiency?

    Science.gov (United States)

    Moinho, Rita; Brett, Ana; Ferreira, Gisela; Lemos, Sónia

    2014-06-12

    Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotype Streptococcus pneumoniae was isolated in the blood culture. On follow-up, detailed medical history, laboratory and genetic investigation led to the diagnosis of X linked dyskeratosis congenita. Dyskeratosis congenita is an inherited disorder that causes shortening or dysfunction of telomeres, affecting mainly rapidly dividing cells (particularly in the skin and haematopoietic system). It leads to bone marrow failure, combined immunodeficiency and predisposition to cancer. The confirmation of this diagnosis allows genetic counselling and medical monitoring of these patients, in order to detect early complications such as bone marrow aplasia or malignancies. 2014 BMJ Publishing Group Ltd.

  5. Las hematodermias la luz de un caso de leucemia cutis

    Directory of Open Access Journals (Sweden)

    Rafael Carrizosa Argáez

    1951-08-01

    años de edad, procedente de Funes (Nariño cuyos padres nos informan que hace más o menos un año se inició la enfermedad con la aparición de un tumor en la región malar izquierda, tumor que fue aumentando de volumen hasta cubrir el ojo izquierdo; que entonces se practicó la extirpación quirúrgica del tumor; pero que, al cabo de poco tiempo, aquél reapareció, y que simultáneamente comenzaron a formarse tumores semejantes en el resto de la cara así como también en las extremidades y en la región pectoral.

  6. Congenital cutis laxa with rectal and uterovaginal prolapse

    OpenAIRE

    Sanjiv V Choudhary; Shazia Bisati; Sankha Koley

    2011-01-01

    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 ab...

  7. Penerapan Hak Cuti Melahirkan Bagi Pekerja Perempuan di Sektor Formal

    Directory of Open Access Journals (Sweden)

    VG. Tinuk Istiarti

    2013-05-01

    Full Text Available Background:The Policy for Women Labors in the Act No. 1 1951 states that women are not allowed to work 1,5 months before and after bearing a child. However, up to the present time, its implementation is not effective. Objective:This explorative research uses quantitative and qualitative approach which objective is to observe the knowledge, attitude and behavior of the woman labourers towards their right of child birth leave. Method of his research is also aimed at observing the employers in imlementing the child birth leave right of the woman labourers and the ralated constraints of the practices. The qualitiative samples consist of 300 respondens of the woman labourers and the qualitative samples consist of 18 employers “Depnaker” staff, 18 SPSI members and 15 woman labourers. Instruments for collecting data are questionaire and interviewguides. Qualitative data are analysed by using frequency distribution while qualitative data are analysed by using content analysis. Result:The research results shows that the knowledge and attitude of the woman labourers towards the rights of child birth leave are good enough. However in practice it is not well implemented as that in the regulation, because employers never give additional wages, such as pregnancy and childbirth allowances despite their agreement to implement it. Conclusion:Most employers are not consistent in implementing the right of child birth leave. It can be seen from the fact that the implementation is met only to each own company’s condition. Those who have had or are in the process of having PKB for example are more consistent than those who have not. Contraints of the implementation of childbirth leave are as follows: 1. Not all employers well comprehend the right of child births leave, 2. The surveillance and empowerment of Disnaker is not effective, 3 The law enforcement to the employers who break the rules is very weak, and 4. The role of SPSI in giving supervision is not yet significant. Key words: Child birth leave, woman labourers, formal sector

  8. Leiomyoma cutis: a clinicopathological series of 37 cases.

    Science.gov (United States)

    Malhotra, Purnima; Walia, Harpreet; Singh, Avninder; Ramesh, V

    2010-10-01

    Cutaneous leiomyomas are benign smooth muscle tumors that comprise three distinct types such as piloleimyoma, angioleiomyoma, and genital leiomyoma. 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. 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. 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. 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.

  9. Leiomyoma cutis: A clinicopathological series of 37 cases

    Directory of Open Access Journals (Sweden)

    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.

  10. Pure red-cell aplasia associated with carbamazepine

    African Journals Online (AJOL)

    1990-08-18

    Aug 18, 1990 ... phenobarbitone and clonazepam without success. On 1. February 1988 medication was changed to carbamazepine (50 mg in the morning and 100 mg at night), which controlled the seizures satisfactorily. She received no other drugs. A full blood count done on 23 March 1988 was within normal limits.

  11. Pure red-cell aplasia associated with carbamazepine

    African Journals Online (AJOL)

    1990-08-18

    Aug 18, 1990 ... tricyclic antidepressants.2 Urufesired side-effects may occur and involve the haematopoietic, hepatic, genito-urinary, nervous, digestive, cardiovascular ... of 7 months and was initially treated with a combination of phenobarbitone and clonazepam without success. On 1. February 1988 medication was ...

  12. Unilateral proximal focal femoral deficiency, fibular aplasia, tibial ...

    African Journals Online (AJOL)

    Egyptian Journal of Medical Human Genetics ... He has a family history of congenital cyanotic heart disease. ... may be due to a rare autosomal dominant mutation with possible gonadal mosaicism and with variable expression in the family, as limb anomaly in one child and cyanotic congenital heart disease in another child.

  13. Genetics Home Reference: Müllerian aplasia and hyperandrogenism

    Science.gov (United States)

    ... do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. ... Encyclopedia: Ovarian Overproduction of Androgens MedlinePlus Encyclopedia: Primary Amenorrhea General Information from MedlinePlus (5 links) Diagnostic Tests ...

  14. Aplasia versus pancytopenia, including the pure red cell variant

    African Journals Online (AJOL)

    production or intramedullary destruction, also known as shunting, that occurs with vitamin B12 and folate deficiency. This needs to be distinguished from the myelodysplastic. (preleukaemic) syndromes. The variability in presentation can be misleading and, to rapidly arrive at the correct interpretation of the patient's problem, ...

  15. Bilateral microtia, canal atresia and aplasia of cochleovestibular nerve.

    Science.gov (United States)

    Asma, A; Roslenda, A R; Fadzilah, I; Mazita, A; Marina, M B; Ab Aziz, A

    2017-04-01

    A six-month-old baby with congenital patent ductus arteriosus (PDA), bilateral microtia and canal atresia was referred for hearing assessment. The audiology assessment revealed bilateral profound hearing loss, which is atypical for a case of pure canal atresia. Imaging was performed much earlier than usual and, as suspected, the patient also had bilateral severe inner ear anomaly. It is extremely rare for a person to have both external and inner ear anomaly because of the different embryological origin. The only suitable hearing rehabilitation option for this kind of patients is brainstem implant. However, the parents had opted for sign language as a form of communication.

  16. "Understanding Adam" multiple reciprocal translocations: complex case presentation.

    Science.gov (United States)

    Linder, Carie E; Lu, Xianglan; Kim, Young Mi; Li, Shibo; Pineda, Jose

    2009-01-01

    This article presents a case review of a newborn diagnosed with a complex chromosomal rearrangement, as demonstrated through a painted chromosomal analysis. This infant presented with multiple dysmorphology including cutis aplasia, multiple ocular malformations, bilateral cleft lip and palate, and postnatal hydrocephaly. A chromosomal analysis revealed multiple-ways, balanced translocation involving chromosomes 3, 4, 6, 8, and 9. This case study provides a unique opportunity to, in retrospect, trace each malformation exploring the pathophysiology, etiology, and correlating origin with chromosomal variation. Careful review of this case, enhanced by the visually augmented representation of each translocation, will increase understanding of chromosomal anomalies and their implications in embryological development and clinical presentation.

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

    Directory of Open Access Journals (Sweden)

    Margarita Valdés‐Flores

    2016-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Evgeniya A Kochenova

    2016-03-01

    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 treatment of wrist contracture that are selected by determining the level of spinal cord lesion will enable physicians to predict the outcome and improve the function and appearance of the wrist.

  19. 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.

  20. Dyskeratosis congenita in a Nigerian boy | Ibrahim | Nigerian ...

    African Journals Online (AJOL)

    Full blood count showed pancytopenia and bone marrow biopsy showed hypocellular marrow with no abnormal cells. He was transfused with pack red blood cells, platelets concentrate and was commenced on co-trimoxazole prophylaxis and anabolic steroid. He is currently on follow-up in the paediatric clinic. Keywords: ...

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

    Science.gov (United States)

    ... infertility). Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and ... signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the ...

  2. MARCADORES SONOGRAFICOS DE CARDIOPATIAS CONGENITAS: DESPROPORCION DE LAS CAVIDADES CARDIACAS

    OpenAIRE

    Viñals L.,Fernando; Giuliano B,Arrigo

    2002-01-01

    La coartación aórtica es una cardiopatía congénita (Cc) de muy difícil diagnóstico antenatal. La forma neonatal es de presentación crítica con dependencia ductal, por lo que la sospecha antenatal permite programar un adecuado manejo neonatal inmediato. En esta tercera publicación, destacamos la importancia de la visualización de una desproporción de las 4 cámaras como marcador sonográfico de Cc. En nuestra serie de Cc, hemos detectado 8 fetos con desproporción de las 4 cámaras; 3 de ellos res...

  3. Homocystinuria due to cystathionine beta synthase deficiency

    Directory of Open Access Journals (Sweden)

    Rao T

    2008-01-01

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

  4. A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma.

    Science.gov (United States)

    Thong, M K; Thompson, E; Keenan, R; Simmer, K; Harbord, M; Davidson, G; Haan, E

    1999-10-01

    Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.

  5. Prevalence of dermatoses in the neonates in Pondichery

    Directory of Open Access Journals (Sweden)

    Baruah M

    1991-01-01

    Full Text Available This study records the preliminary observation on neonatal dermatoses in relation to sex, birth weight and gestational age in 500 newborns delivered between August 1986 and September 1987 at JIPMER Hospital, Pondichery, Physiological dermatoses seen in 100% of the newborns, in the order of frequency were : linea nigra, Epstein′s pearls, physiological scaling, milia and erythema toxicum. Salmon patches were the commonest vascular birthmarks (34.6% Twenty-three per cent had transient neonatal angioma, an entity not described earlier. Infectious dermatoses observed were pyoderma (3%, staphylococcal scalded skin syndrome, congenital syphilis, congenital candidiasis and a case of tinea corporis, probably the youngest described in literature. The commonest congenital malformation of the skin was absence of the outer fold of the helix (3.5%. An unusual case of aplasia cutis involving the scalp and both flanks associated with bilateral corneal opacities was observed.

  6. ‘Bacteroides cutis,’ a new bacterial species isolated from human skin

    Directory of Open Access Journals (Sweden)

    S. Belkacemi

    2018-03-01

    Full Text Available We report the main characteristics of ‘Bacteroides cutis’ sp. nov., strain Marseille-P4118T (= CSUR P4118, a new species within the genus Bacteroides. This strain was isolated from a skin sample of a 75-year-old man from Marseille.

  7. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.

    NARCIS (Netherlands)

    Morava, E.; Willemsen, M.A.A.P.; Wopereis, S.; Laak, H.J. ter; Lefeber, D.J.; Wevers, R.A.; Cruysberg, J.R.M.

    2006-01-01

    PURPOSE: Several types of inborn errors of the O-glycan biosynthesis are known, leading to clinically very distinct phenotypes. Children with O-mannosyl glycan biosynthesis defects commonly present as a severe form of congenital muscular dystrophy with decreased alpha-dystroglycan staining,

  8. Manson Chicks and Microskirted Cuties : Pornification in Thomas Pynchon's Inherent Vice

    NARCIS (Netherlands)

    Cook, S.J.

    2015-01-01

    Many sexual encounters in Thomas Pynchon’s fiction have occurred beyond the mainstream, generating theatres of perversity which dramatise the death wish and enact power relations from wider arenas. However, in Inherent Vice they change in nature. With the exception of scenes which use Charles Manson

  9. calcinosis cutis – a series of 59 consecutive cases confined among ...

    African Journals Online (AJOL)

    2013-04-04

    Apr 4, 2013 ... Office and the hospital management approved the conduct of the study. Explanation was given to study participants about the study objectives and procedures, and that their blood and tissue samples will be used for the research purpose only, i.e. to analyse electrolytes and for pathological examination.

  10. 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

  11. 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

    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

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

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Araujo Chagas

    2016-01-01

    Full Text Available Abstract We report on the case of a 40-year-old male who was admitted to the clinic with a large ulcer on his left buttock, 3 days after an intramuscular benzathine penicillin injection. The patient was diagnosed with Nicolau syndrome, a rare vascular complication in which a lesion develops after intramuscular injection. Symptoms are intense pain at the injection site, erythema, and livedoid dermatitis, which leads to necrosis of skin, subcutaneous tissue and muscle tissue. It was described by Nicolau after intramuscular injections of bismuth salt for syphillis therapy. Nicolau syndrome is rare, but its symptoms are devastating and healthcare professionals must be aware of this clinical entity, since intramuscular injections are common procedures for administration of drugs.

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

    OpenAIRE

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

    2016-01-01

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

  14. Right Renal Vein Aplasia Associated With Diverted Renal Venous Drainage Through Lower Pole

    International Nuclear Information System (INIS)

    Bozlar, Ugur; Ugurel, Mehmet Sahin; Bedir, Selahattin; Ors, Fatih; Coskun, Unsal; Aydur, Emin

    2008-01-01

    We report a unique anomalous renal venous drainage on a 25-year-old man who had congenital absence of the right renal vein and an aberrant venous drainage through the lower pole of the kidney into the inferior vena cava. To our knowledge, this anomaly has not been previously reported in the peer-reviewed literature. State-of-the-art imaging findings are presented.

  15. Ectopic Intrathoracic Hepatic Tissue and Accessory Lung Lobe Aplasia in a Dog.

    Science.gov (United States)

    Lande, Rachel; Dvorak, Laura; Gardiner, David W; Bahr, Anne

    2015-01-01

    A 6 yr old male Yorkshire terrier was presented for an ~6 yr history of progressive cough and dyspnea. Thoracic radiographs revealed a 6 cm diameter mass within the right caudal thorax. Thoracic ultrasound identified an intrathoracic mass ultrasonographically consistent with liver tissue and a chronic diaphragmatic hernia was suspected. Exploratory laparotomy was performed, but no evidence of a diaphragmatic hernia was identified. Thoracic exploration identified abnormal lung parenchyma. The accessory lung lobe was removed using a stapling devise near its base. The consolidated mass had the gross appearance of liver and was histologically identified as ectopic hepatic tissue. Ectopic hepatic tissue, unlike ectopic splenic and pancreatic tissue, is rare and generally has a subdiaphragmatic distribution. This solitary case report demonstrates that ectopic intrathoracic hepatic tissue should be considered a differential diagnosis for a caudal mediastinal mass.

  16. [Treatment of bone marrow aplasia in phase I of acute lymphatic leukemia treatment in children].

    Science.gov (United States)

    Tiefenbach, A; Konja, J; Potkonjak-Sekso, M

    1979-01-01

    In the first phase of treatment of acute lymphatic leukemia in children (ALL) with aggresive cytostatic protocols, the doctor is, in some patients, forced to modify the antitumor therapy over a certain period of time because of bone marrow depression. The authors attempted to pull patients with ALL through this critical phase of the disease - by administering "profilactically" Lithium Carbonate (Li2CO3) ( in order to stimulate granulopoiesis) or, if anaemia, leukopenia and thrombocytopenia had already occurred, by administering concentrates of erythrocytes, leukocytes and platelets - without discontinuing the administration of cytostatics. The results of these attempts are reported.

  17. A Rare Case of Apical Root Resorption during Orthodontic Treatment of Patient with Multiple Aplasia

    OpenAIRE

    Agrawal, Chintan M; Mahida, Khyati; Agrawal, Charu C; Bothra, Jitendrakumar; Mashru, Ketan

    2015-01-01

    External apical root resorption is an adverse effect of orthodontic treatment. It reduces the length of root and breaks the integrity of teeth and dental arch. Orthodontics is the only dental specialty that clinically uses the inflammatory process to correct the mal-aligned teeth. Hence, it is necessary to know the risk factors of root resorption and do everything to reduce the rate of root resorption. Hence, all predisposing factors which are systemic as well as local should be considered be...

  18. Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.

    Science.gov (United States)

    McVeigh, Terri P; Soye, Jonathan A; Gordon, Emma; Lynch, Sally A

    2018-02-10

    Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Similar appearances have been reported in children exposed to thalidomide or cocaine, but sporadic patients have also been reported without a prior history of exposure to known teratogens. © 2018 Wiley Periodicals, Inc.

  19. Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: a new syndrome?

    Science.gov (United States)

    Samson, G; Gardner, J C

    1996-01-11

    We describe a growth-retarded newborn infant with craniosynostosis, microcephaly, hydrancephaly, oligodactyly, humero-radial synostosis, and normal chromosomes. The combination of anomalies has hitherto been unreported and we consider this to be a "new" syndrome.

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

    Science.gov (United States)

    ... Less commonly, people with this condition have premature fusion of certain bones of the skull (craniosynostosis), a ... 4335-40. Review. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

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

    OpenAIRE

    BARACAT, P. J. F.

    2015-01-01

    A escoliose é uma deformidade tridimensional da coluna vertebral1 que pode ocorrer em qualquer fase da vida, por diferentes razões, porém, quando iniciada de forma prematura, na infância ou durante o período gestacional, maior o risco de se tornar grave3 e necessitar de tratamento cirúrgico. A Reeducação Postural Global (RPG) tem sido bastante utilizada no tratamento conservador das escolioses2 , de forma isolada ou aliada ao uso de colete de Milwaukee quando ainda exis...

  2. Ictiosis congenita: Presentación clínico-patológica de 4 casos

    Directory of Open Access Journals (Sweden)

    Mercedes Cárdenas Bruno

    1996-12-01

    Full Text Available Se presentan las características clínicas, histológicas y el estudio genético de 4 casos de ictiosis. Se clasificaron clínicamente como sigue: ictiosis laminar: 2 casos, con patrón de herencia autosómica recesiva; ictiosis Hystrix: 1 caso, con patrón de herencia autosómica dominante; ictiosis ligada al X: 1 caso con patrón de herencia recesiva. El estudio microscópico demostró en uno de los casos de ictiosis laminar, hiperqueratosis, con disminución de la capa granulosa en algunas zonas y ausencia de ésta en otras; en el otro caso la lesión es de aspecto psoriasiforme con hiperqueratosis, paraqueratosis y microabscesos de Munro; en la ictiosis Hystrix se observó una hiperqueratosis epidermolítica y la ictiosis ligada al X mostró una hiperqueratosis con capa granulosa normal.The clinical and histological characteristics as well as the genetic study of 4 cases of ichthyosis are presented. They were clinically classified as follows: laminar ichthyosis, 2 cases with recesive autosomal inheritance pattern; Hystrix ichthyosis, 1 case with dominant autosomal inheritance pattern; ichthyosis linked to X, 1 case with recesive inheritance pattern. The microscopic study showed hyperkeratosis in one of the cases of laminar ichthyosis, with reduction of the granulose layer in some zones and abcense of this in others. In the other case, the lesion has a psoriasiform aspect with hyperkeratosis, parakeratosis, and Munro's microabscesses. In Hystrix ichthyosis it was observed an epidermolytic hyperkeratosis; whereas in the ichthyosis linked to X it was found a hyperkeratosis with normal granulose layer.

  3. 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.

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

    NARCIS (Netherlands)

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

    1994-01-01

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

  5. 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

  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. 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.

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

    Science.gov (United States)

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

    2013-01-01

    Bone marrow graft failure and poor graft function are frequent complications following hematopoietic stem cell transplantation and result in significant morbidity and mortality. Both conditions are associated with graft versus host disease (GVHD), although the mechanism remains undefined. Here we show in two distinct murine models of GVHD (complete MHC- and class II-disparate) that mimic human peripheral blood stem cell transplantation that Th1 CD4+ cells induce bone marrow failure in allogeneic recipients. Bone marrow failure following transplant of allogeneic naïve CD4+ T cells was associated with increased CD4+ Th1 cell development within bone marrow and lymphoid tissues. Using IFNγ-reporter mice, we found that Th1 cells generated during GVHD induced bone marrow failure following transfers into secondary recipients. Homing studies demonstrated that transferred Th1 cells express CXCR4, which was associated with accumulation within bone marrow and spleen. Allogeneic Th1 cells were activated by radiation-resistant host bone marrow cells and induced bone marrow failure through an IFNγ-dependent mechanism. Thus, allogeneic Th1 CD4+ cells generated during GVHD traffic to hematopoietic sites and induce bone marrow failure via IFNγ-mediated toxicity. These results have important implications for prevention and treatment of bone marrow graft failure following hematopoietic stem cell transplantation. PMID:23523972

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

    International Nuclear Information System (INIS)

    Becard, N.

    2003-01-01

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

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

    Science.gov (United States)

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

    2012-01-01

    Sirenomelia, also known as mermaid syndrome, is a developmental malformation of the caudal body characterized by leg fusion and associated anomalies of pelvic/urogenital organs including bladder, kidney, rectum and external genitalia. Most affected infants are stillborn, and the few born alive rarely survive beyond the neonatal period. Despite the many clinical studies of sirenomelia in humans, little is known about the pathogenic developmental mechanisms that cause the complex array of 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 (Bmp4flox/flox) and the Isl1 (Islet1)-Cre mouse line. Isl1-Cre is expressed in the peri-cloacal region and the developing hindimb field. Isl1Cre;Bmp4flox/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. PMID:23028455

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

    Science.gov (United States)

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

    2012-01-01

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

  12. [2 cases of congenital humero-radial synostosis].

    Science.gov (United States)

    Sólyom, L

    1978-01-01

    Two cases of a rare congenital deformity, humeroradial aplasia are reported in the article. In the first case the deformity was unilateral, in the second case a bilateral aplasia was associated to hip dislocation and aplasia of the os ischii.

  13. 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...

  14. Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

    OpenAIRE

    Khincha, Payal P.; Dagnall, Casey L.; Hicks, Belynda; Jones, Kristine; Aviv, Abraham; Kimura, Masayuki; Katki, Hormuzd; Aubert, Geraldine; Giri, Neelam; Alter, Blanche P.; Savage, Sharon A.; Gadalla, Shahinaz M.

    2017-01-01

    Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters. We compared TL measurements (TLMs) by the three most commonly used methods, quantitative polymerase chain reaction (qPCR), flow cytometry with fluorescence in situ hybridization (flow FISH) and Southern blot, in a cohort of patients with the telomere biology disor...

  15. MARCADORES SONOGRAFICOS DE CARDIOPATIAS CONGENITAS. INTERRUPCION DE LA VENA CAVA INFERIOR: A PROPOSITO DE NUESTRA EXPERIENCIA Y RESULTADOS

    OpenAIRE

    Viñals L.,Fernando; Muñoz F.,Marcela; Giuliano B.,Arrigo

    2002-01-01

    Consideramos marcadores de cardiopatías congénitas al grupo de lesiones que, pudiendo ser variantes normales, se asocian a defectos cardíacos. En esta primera publicación destacamos la importancia del diagnóstico de la interrupción de la vena cava inferior (VCI) y su continuación por el sistema azygos, como un marcador de isomerismo auricular y poliesplenia. En toda nuestra serie de cardiopatías congénitas (Cc), hemos diagnosticado 5 anomalías de la VCI, 4 de ellas correspondieron a interrupc...

  16. 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.

  17. CT of the congenital and spleen acquired abnormalities; TC de las anomalias congenitas y adquiridas del bazo

    Energy Technology Data Exchange (ETDEWEB)

    Gil, A.; Ibarburen, C.; Anton, E.; Temprano, C.; Salgado, F. M.; Davila, J. [Hospital de Mostoles. Madrid (Spain)

    2000-07-01

    This study aims to review the X-ray characteristics of the different entities that can affect the spleen by illustrating the semiology that is seen in the Computed tomography (CT). We review 239 cases of splenic pathology that occurred during a period of 15 years (1985-1999). All of the patients underwent a CT with and without i. v. contrast. Most of the patients were submitted to a splenectomy and histological correlation was performed. The CT is the imaging technique of choice in the diagnosis of splenic diseases since the ultrasonography, although a very sensitive technique, is very inspecific. (Author) 36 refs.

  18. Disease: H00906 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome Macrocepha...ly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group o...ival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis... deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS sy

  19. Suspected Spontaneous Reports of Birth Defects in the UK Associated with the Use of Carbimazole and Propylthiouracil in Pregnancy

    Directory of Open Access Journals (Sweden)

    Pamela Bowman

    2011-01-01

    Full Text Available The concept of a carbimazole embryopathy underlies current Endocrine Society advice to avoid this drug in early pregnancy, favouring propylthiouracil as an alternative for the treatment of maternal hyperthyroidism. We aimed to establish whether suspected spontaneous reporting of adverse drug reactions in the UK via the Yellow Card Scheme supports a carbimazole embryopathy and the lack of association between propylthiouracil and congenital anomalies. All birth defects related to maternal treatment with carbimazole or propylthiouracil reported over a 47-year period via the Yellow Card Scheme were analysed. 57 cases with 97 anomalies were reported following in utero exposure to carbimazole. These anomalies included aplasia cutis, choanal atresia, tracheo-oesophageal fistula, and patent vitellointestinal duct, which have previously been reported in association with carbimazole/methimazole exposure in utero. Only 6 cases with 11 anomalies were reported for propylthiouracil, all within the last 15 years. Therefore, these findings may support a carbimazole embryopathy. There are few birth defects associated with propylthiouracil, but this should be interpreted in the context of higher historical prescription rates for carbimazole.

  20. Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes.

    NARCIS (Netherlands)

    Trip, J.; Pillen, S.; Faber, C.G.; Engelen, B.G.M. van; Zwarts, M.J.; Drost, G.

    2009-01-01

    Patients with non-dystrophic myotonias, including chloride (myotonia congenita) and sodium channelopathies (paramyotonia congenita/potassium aggravated myotonias), may show muscular hypertrophy in combination with some histopathological abnormalities. However, the extent of muscle changes has never

  1. Tesis de la Facultad de Medicina: la cuti-reaccion de Von Pirquet y los alumnos de las escuelas publicas de Bogotá

    Directory of Open Access Journals (Sweden)

    Vicente Sáenz Caycedo

    1933-01-01

    limpiada con alcohol o éter y depositar luégo sobre ella una pequeña porción de Tuberculina; de doce a veinticuatro horas después se ha formado una pápula rojiza cuando la reacción es positiva, debida al estado alérgico del portador de bacilos vivos; y termina su trabajo con dos cuadros que condensan su experimentación sobre la Tuberculina en 3.166 niños de las Escuelas públicas de Bogotá, de ambos sexos y cuyas edades oscilaban Entre cinco y catorce años; los cuadros son los siguientes.

  2. 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.

  3. Third party cord blood transplant boosts autologous hematopoiesis in a case of persistent bone marrow aplasia after double transplant failure for β-thalassemia major

    Directory of Open Access Journals (Sweden)

    Giuseppe Visani

    2013-04-01

    Full Text Available A 9-year-old female received a double allogeneic stem cell transplant (SCT from an ABO-incompatible HLA-matched sibling for β-thalassemia major, without achieving a complete donor chimerism. Subsequently, the patient received autologous SCT and five donor lymphocyte infusion, without increasing donor chimerism. After the double transplant failure, we performed an unrelated transplant from a full-matched umbilical cord blood (UCBT. Due to the severe immunosuppression of the patient, we did not administer any conditioning regimen nor GVHD prophylaxis. On day +40 after UCBT, trilinear engraftment was documented. Surprisingly, the hematopoietic reconstitution was related to the re-expansion of the autologous (β-thalassemic hematopoietic stem cell, as documented by chimerism studies on both peripheral blood and bone marrow. At present, 30 months after UCBT, there is stable hematopoietic autologous reconstitution. This is the first description of the restoration of autologous hematopoiesis obtained with cord blood infusion in a thalassemia-major patient after a double transplant failure.

  4. Combination Therapy for Radiation-Induced Bone Marrow Aplasia in Nonhuman Primates Using Synthokine SC-55494 and Recombinant Human Granulocyte Colony-Stimulating Factor

    National Research Council Canada - National Science Library

    MacVittle, Thomas J; Farese, Ann M; Herodin, Francis; Grab, Lisa B; Baum, Charles M; McKearn, John P

    1996-01-01

    .... After irradiation on day (d) 0, cohorts of animals subcutaneously received single-agent protocols of either human serum albumin (HSA; every day [OD], 15 microng/kg/d. n = 10). Synthokine (twice daily [BID...

  5. 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)

  6. 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

    International Nuclear Information System (INIS)

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

    1994-01-01

    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)

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

    International Nuclear Information System (INIS)

    Yang Jicheng; Zhang Yun; Sheng Weihua

    1997-08-01

    The E coil highly expressing rhIL-6 constructed by our department was fermented and rhIL-6 products were extracted and purified. The specific activity of the purified rhIL-6 products reached 4.83 x 10 8 IU/mg. The rhIL-6 products were used to treat BALB/c mice injured by 60 Co irradiation for six days (2 μg/big/each). The results showed that the bleeding time, coagulation time and prothrombin time of the rhIL-6 treatment group were significantly shorter than those of the control group (P<0.01), the platelet count and WBC increased by 130% and 165% in the treatment group as compared with the control, the numbers of CFU-Mix cultured in vitro and CFU-s in spleen were significantly higher than those in the control group (P<0.01). These results suggest that rhIL-6 exerts beneficial effects on the recovery of mice from radiation-induced injuries of hematopoietic stem/progenitor cells, and thus helps recovery from radiation injury of bone marrow and hematopoietic function. (17 refs., 4 figs., 5 tabs.)

  8. Morphological and functional rehabilitation of severely infra-occluded primary molars in the presence of aplasia of the permanent premolar: a clinical report.

    Science.gov (United States)

    Giachetti, Luca; Bertini, Fabio; Landi, Debora

    2005-02-01

    This clinical report describes the fixed prosthodontic rehabilitation of an infra-occluded primary molar. Diagnostic considerations included the patient's age, occlusal status, condition of the infra-occluded tooth including the degree of infra-occlusion and root resorption, as well as adjacent alveolar bone levels. Due to the patient's young age, an invasive prosthetic approach was delayed in favor of an onlay restoration, which represented a more rapid and conservative therapeutic choice. The treatment involved the design and fabrication of a composite onlay on the deciduous molar using a ceramic optimized polymer on a fiber-reinforced composite framework. Three years later, intraoral radiography showed satisfactory marginal adaptation. No change was observed in periodontal tissues.

  9. Air Break During Preoxygenation and Risk of Altitude Decompression Sickness

    Science.gov (United States)

    2010-10-01

    manifestations include symptoms generally classifi ed as peripheral nervous system symptoms: pins and needles, tingling, prickling, urticaria, cutis ...Webb JT . Case descriptions and observa- tions about cutis marmorata from hypobaric decompres sions . Houston : Johnson Space Center ; April

  10. Characterization of Contaminant Migration Potential Through In-Place Sediment Caps

    Science.gov (United States)

    2009-04-01

    Elizabeth Cutie , Battelle QAO -ii- Work Plan Distribution List Victor Magar ENVIRON (Chicago, IL) Bruce Sass Battelle (Columbus, OH...Cincinnati, OH) Brenda Bachman USACE (Seattle, WA) Craig Jones Sea Engineering, Inc. (Santa Cruz, CA) Elizabeth Cutie Battelle (Columbus, OH...Battelle Senior Research Scientist Ms. Elizabeth Cutie Battelle, Columbus, OH (614) 424-4899 Battelle QA Officer NRMRL = National Risk Management Research

  11. 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; 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...

  12. [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

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

    NARCIS (Netherlands)

    Belligni, Elga F.; Dokal, Inderjeet; Hennekam, Raoul C. M.

    2011-01-01

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

  14. 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.

  15. Anestesia general y analgesia para la resolución de una hernia peritoneapericárdica congenita en perro: caso clínico

    OpenAIRE

    Costa, Margarida; Alexandre, Nuno; Alves, Ricardo; Bação, Maria; Martín, Maria; Garcia, Monica; Celdrán, Diego; Lima, Juan; Sánchez, Francisco

    2010-01-01

    O objectivo deste trabalho foi proporcionar uma anestesia inalatória e analgesia multimodal segura e eficaz num caso clínico de uma reparação cirúrgica de uma hérnia peritoneopericárdica num cão

  16. [Aetiology of childhood alopecia].

    Science.gov (United States)

    Cortés G, Andrea; Mardones V, Felipe; Zemelman D, Viviana

    2015-01-01

    Childhood alopecia is a relative rare event in general paediatric dermatology practice. Hair loss in children may have multiple causes, and there are different types of alopecia according to age groups. The aim of the study was to describe the clinical and epidemiological profile of alopecia in children from two Chilean paediatric hospitals. Descriptive analysis of clinical records of patients from the Dermatology Department of Roberto del Rio and Luis Calvo Mackenna Hospitals between January 2007 and June 2010. Patients with clinical diagnosis of alopecia were included. A total of 345 clinical records were analysed, with 179 males (51.9%). The median age was 72 months. Overall, the most common diagnoses were: alopecia areata (AA), (36.8%), tinea capitis (TC), (21%), nevus sebaceous (13.2%), and tellogen effluvium (8.7%). According to age groups, in newborns, the most common causes were aplasia cutis and nevus sebaceous. In toddlers, pre-school and school children, the principal causes were nevus sebaceous, AA and TC. Trichotillomania was also significant in school children. In adolescents, nevus sebaceous, AA and tellogen effluvium were the most frequent diagnoses. AA was statistically associated with autoimmune disease, thyroid disease, nail disorder, psychiatric disease, and Down's syndrome. The most common aetiological agent in TC was M. canis (86.6%). Trichotillomania was also statistically associated to psychiatric disorders. In this study, the main causes of alopecia in children were acquired and non-scarring alopecia. In our results, the type of alopecia varies according to age group. Some types of childhood alopecia showed a close correlation to psychiatric disorders. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

    Science.gov (United States)

    Caglayan, Ahmet Okay; Baranoski, Jacob F.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Aslan; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Omay, E. Zeynep Erson; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Baris; Minja, Frank J.; Šestan, Nenad; Yasuno, Katsuhito; Bilguvar, Kaya; Caksen, Huseyin; Gunel, Murat

    2014-01-01

    BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. Upon further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology – allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of encephaloceles. PMID:25456301

  18. Investigation of the Genetics of Hematologic Diseases

    Science.gov (United States)

    2017-10-17

    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

  19. Thermal Analysis of Copper-Titanium-Multiwall Carbon Nanotube Composites.

    Science.gov (United States)

    Hamamda, Smail; Jari, Ahmed; Revo, S; Ivanenko, K; Jari, Youcef; Avramenko, T

    2017-12-01

    The aim of this research is the thermostructural study of Cu-Ti, Cu-Ti 1 vol% multiwall carbon nanotubes (MWCNTs) and Cu-Ti 3 vol% MWCNTs. Several investigation techniques were used to achieve this objective. Dilatometric data show that the coefficient of thermal expansion of the nanocomposite containing less multiwall carbon nanotubes is linear and small. The same nanocomposite exhibits regular heat transfer and weak mass exchange with the environment. Raman spectroscopy shows that the nanocomposite with more MWCNTs contains more defects. This implies that the carbon nanotubes have better dispersion in Cu-Ti 1 vol% MWCNTs. Infrared spectroscopy reveals that Cu-Ti 1 vol% MWCNTs has better crystallinity than Cu-Ti 3 vol% MWCNTs.

  20. Radiological Defense. Volume 4. An Introduction to Radiological Instruments for Military Use

    Science.gov (United States)

    1950-01-01

    curve.. 22 survey meter (IM-3/PD) ------------- 65 ligiire 25. Neher-llarper vacuum tube quiench Figure 57. Tracerlab Cutie Pie (IM-5/PD...gamnina ion SIC-2A- Victorcen -------------- 356- --- Zento. I-’P-----------Beta-gainmasion ebamber- SIC-7A-. Sylvania --------------- RD-316-- Cutie pie...SIC-7B - Tracer Lab ------------- SlU-1A- Cutie pie. I MI-7A/PD --------- Drift ineter ----------- --SIC-5A --- Kelley Koett ----------- K-320

  1. Defense Science Board 2005 Summer Study on Reducing Vulnerabilities to Weapons of Mass Destruction

    Science.gov (United States)

    2007-05-01

    vi I P RE F A CE EX E CUTI VE SUMMA R Y I vii Executive Summary Reducing U.S. vulnerabilities to weapons of mass...integrated WMD intelligence community focused on improving strategic “knowledge” through innovative collection, dramatically EX E CUTI VE SUMMA R...right policy. EX E CUTI VE SUMMA R Y I xi The credibility of declaratory policies depends on the ability of the United States to

  2. Accelerated Decompression from Saturation at 132 Feet of Sea Water With Isobaric oxygenation at 60 Feet of Sea Water

    Science.gov (United States)

    2009-02-01

    saturation (Sa02) were monitored continuously via individually fitted pulse oximeters (Heska, model #4404, Des Moines, IA). Cutis marmorata was...observation period and the 4th after 2 h 36 min. There were no cases of pain only DeS and 75% of the pigs experienced cutis which occurred between 31 and 112...suffering severe Des within the initial 2 hour observation period. Two animals (14%) suffered pain only DeS (1 with accompanying cutis ) and 8/14 (57

  3. AFIRM-Wake Forest/University of Pittsburgh Consortium

    Science.gov (United States)

    2012-07-01

    of the skin. I. The cleavability of the cutis . (Translated from Langer, K. (1861). Zur Anatomie und Physiologie der Haut. I. Uber die Spaltbarkeit...der Cutis . Sitzungsbericht der Mathem atisch-naturwissenschaftlichen Classe der Kaiserlichen Academie der Wissenschaften, 44, 19.). British Journal of...References 1. On the anatomy and physiology of the skin. I. The cleavability of the cutis . (Translated from Langer, K. (1861). Zur Anatom ie und

  4. The Influence of Thermal Exposure on Diver Susceptibility to Decompression Sickness

    Science.gov (United States)

    2007-11-01

    pain with paresthesia, and two were of pain with cutis marmorata (cutaneous manifestation of DCS hallmarked by a raised, cyanotic mottling or marbling...Symptom/Sign: #* Pain + cutis marmorata: 2 Hand, wrist, and other involvement extending 11 Pain + paresthesia: 1, 2 proximally no farther than elbow Pain...within normal limits and patient was released symptom-free. Diver had worn gloves during cold-water decompression. Diagnosis: cutis marmorata; Type II DCS

  5. Redistribution of Decompression Stop Time from Shallow to Deep Stops Increases Incidence of Decompression Sickness in Air Decompression Dives

    Science.gov (United States)

    2011-07-22

    presumed cutis marmorata. Patient had rapid resolution of rash and itching at arrival at 60 fsw. Patient completed USN Treatment Table 6 without...normal throughout the entire episode. Final Dx is Type I DCS, cutis marmorata. 25 20060216 Type I 125 220 A 37 year old active duty male diver...consistent with a diagnosis of Cutis Marmorata, and decision was made to treat patient on a Treatment Table 6. Patient was placed in chamber and pressed to

  6. Intravenous Perfluorocarbon After Onset of Decompression Sickness Decreases Mortality in 20-kg Swine

    Science.gov (United States)

    2010-06-01

    were observed for signs of cutis marmorata ("skin bends") as previously described (3). Skin bends have been shown to reliably precede the on- set of...severe DCS in 20-kg swine (1). Treatment At the onset of cutis marmorata, a photograph of the lesion was obtained and the principle investigator...beneficial is highly encouraging. We used the onset of cutis marmorata to trigger PFC (or saline) administration and oxygen. In developing this model

  7. Guide to Altitude Decompression Sickness Research

    Science.gov (United States)

    2010-05-01

    benefit to continuing the test once these symptoms are recognized. Skin manifestations. 1. Skin mottling or marbling ( cutis marmorata; red to purple...torque wrench 0958-1002 rope pull 1002-1006 Echo-imaging station; Check for cutis marmorata 1006-1010 REST 1010-1014 cycle 1014-1018...pull 1054-1058 Echo-imaging station; Check for cutis marmorata 1058-1102 cycle 1102-1106 torque wrench 1106-1110 REST 1110-1114 rope

  8. Decompression from Saturation Using Oxygen: Its Effect on DCS and RNA in Large Swine

    Science.gov (United States)

    2010-01-01

    signs of cutis mamarota (skin bends) or distress. Af- ter an initial 2-h observation period the animals walked out ~f the MLAC .. Animals were evaluated...Decompression Sickness Definitions DCS was clinically divided into three broad categories: 1) cutis marmorata; 2) pain-only DCS; and 3) severe DCS... Cutis marmorata is a skin manifestation that appears as hyperemia, progressing to dark, violet patches. Pain- only DCS includes limb lifting, foot

  9. Assessment of WWMCCS Performance in a Post-Nuclear Attack Environment. Sanitized

    Science.gov (United States)

    1975-11-01

    34*•- . ,: - " ,,= #-t. -" " . ...... .. .* . ." .: ... •. - -, ,." .. " ’- . . ,-" I- ; -, " • 6 *.,.,.•.. - ~ -~** * - - an/-- - j.. UNSTREI[SSED (1;"", CUTI

  10. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

    Science.gov (United States)

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-10-24

    Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are characterised by distinctive facies and postaxial limb deficiencies, involving the 5th finger, metacarpal/ulnar/fibular/and metatarsal. The patient, an 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs respectively. In addition, there was a unilateral tibio-fibular hypoplasia (hemimelia) associated with hypoplasia of the terminal phalanges and malsegmentation of the upper thoracic vertebrae, causing effectively the development of thoracic kyphosis. In the typical form of the preaxial acrofacial dysostosis, there are aberrations in the development of the first and second branchial arches and limb buds. The craniofacial dysmorphic features are characteristic such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb defects. Nager and de Reynier in 1948, who used the term acrofacial dysostosis (AFD) to distinguish the condition from mandibulofacial dysostosis. Neither the facial features nor the limb defects in our present patient appear to be absolutely typical with the previously reported cases of AFD. Our patient expands the phenotype of syndromic preaxial limb malformation complex. He might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex.

  11. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review

    OpenAIRE

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-01-01

    Introduction Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are char...

  12. Combined Administration of Recombinant Human Megakaryocyte Growth and Development Factor and Granulocyte Colony-Stimulating Factor Enhances Multilineage Hematopoietic Reconstitution in Nonhuman Primates after Radiation-Induced Marrow Aplasia

    National Research Council Canada - National Science Library

    Farese, Ann M; Hunt, Pamela; Grab, Lisa B; MacVittie, Thomas J

    1996-01-01

    ... the combined administration of PEG-rMGDF and r-methionyl human granulocyte colonystimulating factor "r-metHuG-CSF" on hematopoietic reconstitution after 700 cGy 60Co gamma, total body irradiation in nonhuman primates...

  13. Congenital anomalies of the inferior vena cava: importance of multiplanar imaging methods: an iconographic essay; Anomalias congenitas da veia cava inferior: valor dos metodos multiplanares em seu diagnostico - ensaio iconografico

    Energy Technology Data Exchange (ETDEWEB)

    Viana, Sergio Lopes; Mendonca, Jose Luiz Furtado de; Freitas, Flavia Mendes Oliveira [Clinica Radiologica Vila Rica, Brasilia, DF (Brazil)] (and others). E-mail: radiolog@uol.com.br

    2006-10-15

    The inferior vena cava is the result of a complex embryologic process which takes place between 6 and 8 weeks of intra-uterine life. Several variations can occur during this process, and a defective embryogenesis of this vessel may lead to the development of anatomic variants. Although many of these variants are asymptomatic, the radiologist should be aware of them and of the potential medico-legal issues involved, especially in cases in which abdominal surgery or hemodynamic procedures are contemplated. In this paper, the major congenital anomalies involving the inferior vena cava are reviewed under the form of a pictorial essay, highlighting the role of the multiplanar imaging methods (volumetric computed tomography and magnetic resonance imaging) in their diagnosis. Keywords: Congenital variations; Inferior vena cava; Renal veins; Computed tomography; Magnetic resonance imaging. author)

  14. Tomographic and clinical aspects of the central nervous system anomalies associated to the craniofacial congenital changes; Aspectos tomograficos e clinicos das anomalias estruturais do sistema nervoso central associadas as alteracoes congenitas do macico facial

    Energy Technology Data Exchange (ETDEWEB)

    Bellucci, Angela Delete

    1994-12-31

    This work proposes to study people presenting craniofacial congenital anomalies, with or without mental disorders, regardless their association to other anomalies in the body middle line, aiming to verify the central nervous system frequency of concurrence with structural anomalies associated, within the clinic and phenotype spectra of that syndromes. (author). 182 refs., 36 figs.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genoty...

  16. Evaluation of Insecticides, Repellents, and Other Approaches to the Control of Coastal Stand Flies, Culicoides spp.

    Science.gov (United States)

    1984-05-01

    late September-early October. Cuti - coidee hollensia was most abundant during October through mid- November. Only an occasional specimen was collected...Med. Entomol.). Kline, D. L. and J. R. Wood. Habitat characterization of salt marsh Cuti - coides spp. larvae at Yankeetown, Florida: IV. Relative

  17. Mathematical Approaches to WMD Defense and Vulnerability Assessments of Dynamic Networks

    Science.gov (United States)

    2016-07-01

    the smallest integer satisfying z 1 + ✏; 3 for each community Ci 2 C do 4 compute the c-way balanced partitioning; 5 Cuti = set of edges to cut Ci...into c parts; 6 S S [ Cuti ; 7 end 8 return S; 5 Evacuation Modeling The research summarized here is from a current submission by Vogiatzis and Pardalos

  18. Genetics Home Reference: epidermolytic hyperkeratosis

    Science.gov (United States)

    ... link) The Swedish Information Centre for Rare Diseases: Ichthyosis General Information from MedlinePlus (5 links) Diagnostic Tests ... congenita of Brocq bullous ichthyosiform erythroderma EHK epidermolytic ichthyosis hyperkeratosis, epidermolytic Related Information How are genetic conditions ...

  19. Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

    Science.gov (United States)

    2017-07-24

    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

  20. Oxygen Breathing Accelerates Decompression from Saturation at 40 msw in 70-kg Swine

    Science.gov (United States)

    2010-07-01

    continuously using pulse oximeters (Heska, model #4404, Des Moines, IA). Type I DCS included cutis marmorata, defined as ob- served cyanotic patches on the...thanasia), Type I ( cutis or pain), and Type II (cardiopul- monary or neurological) DCS during the 2 h after surfacing. The secondary endpoint was the...h saturation at 18 msw) in a 15-swine cohort (mean weight 69.5 kg) resulted in 86.6% Type I cutis , 40% cardiopul- monary DCS, and 73.3% neurologic

  1. 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...

  2. 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

  3. Myeloid Neoplasms.

    Science.gov (United States)

    Subtil, Antonio

    2017-09-01

    The classification of myeloid neoplasms has undergone major changes and currently relies heavily on genetic abnormalities. Cutaneous manifestations of myeloid neoplasms may be the presenting sign of underlying bone marrow disease. Dermal infiltration by neoplastic cells may occur in otherwise normal skin or in sites of cutaneous inflammation. Leukemia cutis occasionally precedes evidence of blood and/or bone marrow involvement (aleukemic leukemia cutis). Copyright © 2017 Elsevier Inc. All rights reserved.

  4. FRET biosensor uncovers cAMP nano-domains at ?-adrenergic targets that dictate precise tuning of cardiac contractility

    OpenAIRE

    Surdo, Nicoletta C.; Berrera, Marco; Koschinski, Andreas; Brescia, Marcella; Machado, Matias R.; Carr, Carolyn; Wright, Peter; Gorelik, Julia; Morotti, Stefano; Grandi, Eleonora; Bers, Donald M.; Pantano, Sergio; Zaccolo, Manuela

    2017-01-01

    Compartmentalized cAMP/PKA signalling is now recognized as important for physiology and pathophysiology, yet a detailed understanding of the properties, regulation and function of local cAMP/PKA signals is lacking. Here we present a fluorescence resonance energy transfer (FRET)-based sensor, CUTie, which detects compartmentalized cAMP with unprecedented accuracy. CUTie, targeted to specific multiprotein complexes at discrete plasmalemmal, sarcoplasmic reticular and myofilament sites, reveals ...

  5. Bacterial flora of the sigmoid neovagina

    NARCIS (Netherlands)

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

    1993-01-01

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

  6. Short rib-polydactyly syndrome type II (Majewski: Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-03-01

    Conclusion: Tibial aplasia, choroid plexus cysts and polycystic kidneys can be prominent prenatal ultrasound findings of type II SRPS. The present case provides evidence for a correlation of NEK1 mutation with type II SRPS.

  7. Human syndromes with congenital patellar anomalies and the underlying gene defects.

    NARCIS (Netherlands)

    Bongers, E.M.H.F.; Kampen, A. van; Bokhoven, J.H.L.M. van; Knoers, N.V.A.M.

    2005-01-01

    Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso-ventral patterning, cartilage and

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

    International Nuclear Information System (INIS)

    Thierry, D.

    1994-01-01

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

  9. Graft-versus-host-like disease complicating thymoma: lack of AIRE expression as a cause of non-hereditary autoimmunity?

    NARCIS (Netherlands)

    Offerhaus, G. Johan; Schipper, Marguerite E. I.; Lazenby, Audrey J.; Montgomery, Elizabeth; Morsink, Folkert H. M.; Bende, Richard J.; Musler, Alex R.; van Lier, Rene A. W.; van Noesel, Carel J. M.

    2007-01-01

    Three patients with graft-versus-host-like enterocolonopathy are reported. Their history was remarkable for thymoma and other autoimmune manifestations such as thrombocytopenia, red cell aplasia, interface dermatitis, Sjogren sialadenits, vanishing bile ducts and rheumatoid arthritis. In all

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

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2008-01-01

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

  11. PERANCANGAN SISTEM INFORMASI ADMINISTRASI KARYAWAN RADIO

    Directory of Open Access Journals (Sweden)

    Adi Wahyu Pribadi

    2017-05-01

    Full Text Available Bidang usaha yang bergerak dibidang Stasiun Radio yang  berguna sebagai penyedia jasa berita dan hiburan. kesulitan dalam proses pencarian dan mengelola data karyawan,  absensi karyawan, waktu hadir karyawan ataupun pertukaran shift para penyiar yang terkadang lupa atau tidak tercatat karena hilangnya dokumen atau lain sebagainya, adanya kesulitan pada waktu tertentu dalam mengatur atau menghandle perubahan gaji yang tidak menentu, data cuti dan perhitungan cuti karyawan yang tidak tercatat sehingga hak cuti karyawan tidak terhitung dengan baik, tidak tercatatnya data karyawan yang telah resign atau telah mengundurkan diri, pengelolaan data PHK (Pemutusan Hubungan Kerja karyawan sehingga perhitungan pesangon yang terkadang sering terjadi kesalahan. Dalam penelitian ini penulis menggunakan metode waterfall, observasi dan wawancara. Pada implementasi ditampilkan proses login, penginputan : data karyawan, absensi, pengajuan cuti, pengunduran diri, klarifikasi surat peringatan dan PHK, perubahan gaji, pengembangan skill, penilaian kinerja. Dapat disimpulkan bahwa sistem ini menangani semua pencatatan master karyawan, perubahan gaji berdasarkan penilaian kinerja karyawan dan UMR, pengunduran diri karyawan dan pencatatan dan pengklasifikasian SP dan PHK yang akan diberikan kepada karyawan, sehingga  HRD, R&D, Finance & Administration dan Manager Perusahaan dapat mendapatkan informasi dan laporan dengan mudah. Sistem ini juga memudahkan karyawan dalam melakukan proses absensi, cuti, pengembangan skill. Pengontrolan dalam pencatatan dan keamanan data dapat ditangani dengan baik karena setiap user mempunyai password masing-masing dan diberikan menu yang sesuai dengan proses yang akan dijalankan

  12. Properties of pressure-sensitive adhesive tapes with soft adhesives to human skin and their mechanism.

    Science.gov (United States)

    Tokumura, Fumio; Homma, Takeyasu; Tomiya, Toshiki; Kobayashi, Yuko; Matsuda, Tetsuaki

    2007-05-01

    The use of soft adhesives in the manufacture of pressure-sensitive adhesive tapes has recently increased. The dermal peeling force of adhesive tapes with soft adhesives was studied. Four kinds of adhesive tapes with adhesives of different softness were made, by adding varying amounts of isopropyl myristate as a softener. The tapes were applied on the flexor side of the forearm of six healthy male volunteers. The dermal peeling force, the amount of stripped corneocytes, the level of pain when the tapes were removed and the degree of penetration of adhesives into the sulcus cutis (skin furrows) were evaluated at 1 and 24 h after application of the tapes. Furthermore, a skin model panel (a sulcus cutis and crista cutis model panel) and a crista cutis model panel were constructed from a general stainless-steel panel, and the peeling force of the tapes against the model panels was measured. As the softness of adhesives increased, the peeling force against a general stainless-steel panel with a flat surface decreased, although the peeling force against human skin did not significantly change. The amount of stripped corneocytes on the removed tapes and the level of pain when the tapes were removed decreased with the increase in softness of the adhesives. These results suggest that adhesive tapes with soft adhesives that contain isopropyl myristate as a softener are suitable for the skin. Furthermore, the degree of penetration of adhesive into the sulcus cutis increased as the softness of adhesives increased. Upon evaluation of the peeling force against the model panels, as the softness of adhesives increased, there was a slight decrease in the peeling force against the skin model panel, while there was a remarkable decrease in the peeling force against the crista cutis model panel. These results suggest that the lack of change in the dermal peeling force as the softness of adhesives increased was caused by penetration of soft adhesive into the sulcus cutis, and that the

  13. Global Plasma Turbulence Simulations of q=3 Sawtoothlike Events in the RTP Tokamak

    Science.gov (United States)

    de Baar, M. R.; Thyagaraja, A.; Hogeweij, G. M.; Knight, P. J.; Min, E.

    2005-01-01

    A two-fluid computer model of electromagnetic tokamak turbulence, CUTIE, is used to study the dynamic structure and turbulent transport in the Rijnhuizen Tokamak Project tokamak. A discharge with dominant, off-axis electron cyclotron heating is the main focus of the simulations which were extended over several resistive diffusion times. CUTIE reproduces the turbulent transport and MHD phenomena of the experiment. The noninductive components of the current density profile, viz., the dynamo current and the bootstrap current, are identified as key players in the turbulent transport and its suppression and in off-axis MHD events.

  14. Heat Pinches in Electron-Heated Tokamak Plasmas: Theoretical Turbulence Models versus Experiments

    Science.gov (United States)

    Mantica, P.; Thyagaraja, A.; Weiland, J.; Hogeweij, G. M. D.; Knight, P. J.

    2005-10-01

    Two fluid turbulence models, the drift wave based quasilinear 1.5D Weiland model and the electromagnetic global 3D nonlinear model cutie, have been used to account for heat pinch evidence in off-axis modulated electron cyclotron heating experiments in the Rijnhuizen Tokamak Project. Both models reproduce the main features indicating inward heat convection in mildly off-axis cases. In far-off-axis cases with hollow electron temperature profiles, the existence of outward convection was reproduced only by cutie. Turbulence mechanisms driving heat convection in the two models are discussed.

  15. Training Extract AFSC 51XX Computer Systems Officer AFPT 90-51X-468.

    Science.gov (United States)

    1983-06-01

    ADOITIONAL CUTIES 2.30 5.8 3.. 54 .1 SB, 5 1.9 6 591 DCOELOP PROGRAMMING AIDS SUCH AS QUICK-REFERENCE TARLES 2.°2 14. 11.4 13.5 1 .2 7.0 N 586 DETERMINE...OPERATIONAL OATA BASE INTEGAITT 1.C0 42.2 12.3 27.0 16.4 3T A IJSSI3N R55 ERSONNEL TO OUTY POSITIONS OR ACEITIONAL CUTIES .08 9.6 9.8 13.5 36 7.8 63

  16. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia

    NARCIS (Netherlands)

    Aubert, Geraldine; Strauss, Kevin A; Lansdorp, Peter M; Rider, Nicholas L

    2017-01-01

    Background: Mutations in the long noncoding RNA RNase component of the mitochondrial RNA processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). The CHH disease phenotype has some overlap with dyskeratosis congenita, a wellknown "telomere

  17. Diagnostic value of cardiac cineangiography

    International Nuclear Information System (INIS)

    Han, Man Chung; Yeon, Kyung Mo; Im, Chung Gie; Yoo, Shi Joon

    1979-01-01

    Cineangiography is essential and excellent tool for evaluation of anatomy and pathophysiology of heart disease. 114 cases of cardiac cineangiography were analyzed. The following conditions are easily interpreted and diagnosed accurately by cineangiography. 1. Valvular insufficiency, especially small amount. 2. Valve motion, shape analysis. 3. Detection of shunt. 4. Ventricle wall movement. 5. Complexed congenita cardiac anomaly. 6. Coronary artery stenosis.

  18. The channelopathies: An overview | Blanckenberg | Southern ...

    African Journals Online (AJOL)

    Included in this diverse array of diseases are malignant hyperthermia, long QT syndrome, myotonia congenita, Eaton Lambert syndrome, certain forms of migraine and epilepsy, as well as cystic fibrosis.1 The common pathophysiology in all these diseases is an inherited abnormality of the amino acid sequence of the ...

  19. The channelopathies: an overview

    African Journals Online (AJOL)

    QuickSilver

    is responsible for the transmembrane passage of various ions. Included in this diverse array of diseases are malignant hyperthermia, long QT syndrome, myotonia congenita, Eaton Lambert syndrome, certain forms of migraine and epilepsy, as well as cystic fibrosis.1. The common pathophysiology in all these diseases is an ...

  20. 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.

  1. Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

    Directory of Open Access Journals (Sweden)

    Amar M. Taksande

    2009-11-01

    Full Text Available Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case of arthrogryposis in infant of diabetic mother with multiple congenital anomalies.

  2. 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...

  3. BMT Abatacept for Non-Malignant Diseases

    Science.gov (United States)

    2018-03-29

    Hurler Syndrome; Fanconi Anemia; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Shwachman-Diamond Syndrome; Diamond-Blackfan Anemia; Dyskeratosis-congenita; Chediak-Higashi Syndrome; Severe Aplastic Anemia; Thalassemia Major; Hemophagocytic Lymphohistiocytosis; Sickle Cell Disease

  4. Improved starch digestion of sucrase deficient shrews treated with oral glucoamylase enzyme supplements

    Science.gov (United States)

    Although named because of its sucrose hydrolytic activity, this mucosal enzyme plays a leading role in starch digestion because of its maltase and glucoamylase activities. Sucrase deficient mutant shrews, Suncus murinus, were used as a model to investigate starch digestion in patients with Congenita...

  5. Browse Title Index

    African Journals Online (AJOL)

    Items 51 - 88 of 88 ... Vol 5, No 1 (2007), Outpatient management protocol of skin tattoos with simple chemo/dermabrasion technique. Abstract. J A Mohammad, A A Al-Rasheed, A M Alhamod. Vol 3, No 1 (2005), Pachyonychia Congenita type 1, with Cutaneous Horn: a single case report, Abstract. jAdel HH Bashir. Vol 8, No 2 ...

  6. Multiple pterygium syndrome with marked pterygia of the fingers and ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2011-10-04

    Oct 4, 2011 ... congenita [2], or Bonnevie–Ullrich syndrome [3,4] and more recently multiple ... by multiple congenital joint contractures, multiple skin webs ... etal deformities [8]. * Corresponding author. Address: 2 Tomanbay St., Hammamat. ElKoba, Cairo, Egypt. E-mail address: shawkyrabah@yahoo.com (R.M. Shawky).

  7. HYPOKALEMIC PERIODIC PARALYSIS AND THE DIHYDROPYRIDINE RECEPTOR (CACNLIA3) - GENOTYPE-PHENOTYPE CORRELATIONS FOR 2 PREDOMINANT MUTATIONS AND EVIDENCE FOR THE ABSENCE OF A FOUNDER EFFECT IN 16 CAUCASIAN FAMILIES

    NARCIS (Netherlands)

    ELBAZ, A; VALESANTOS, J; JURKATROTT, K; LAPIE, P; OPHOFF, RA; BADY, B; LINKS, TP; PIUSSAN, C; VILA, A; MONNIER, N; PADBERG, GW; ABE, K; FEINGOLD, N; GUIMARAES, J; WINTZEN, AR; VANDERHOEVEN, JH; SAUDUBRAY, JM; GRUNFELD, JP; LENOIR, G; NIVET, H; ECHENNE, B; FRANTS, RR; FARDEAU, M; LEHMANNHORN, F; FONTAINE, B

    Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases,

  8. Is the thrombopoietin assay useful for differential diagnosis of thrombocytopenia? Analysis of a cohort of 160 patients with thrombocytopenia and defined platelet life span.

    Science.gov (United States)

    Gouin-Thibault, I; Cassinat, B; Chomienne, C; Rain, J D; Najean, Y; Schlageter, M H

    2001-09-01

    Thrombopoietin (TPO), the major hormone controlling platelet production, has been measured in thrombocytopenias with discordant results. The aim of our work was to assess the value of the TPO assay for differential diagnosis of thrombocytopenias in a large cohort of patients classified according to the results of their platelet isotopic study. We measured TPO (R&D Systems) in serum of 160 thrombocytopenic patients referred to our department for platelet life span isotopic studies. We classified patients as follows: (a) idiopathic or autoimmune thrombocytopenia group (ITP; patients with increased platelet destruction and shortened platelet life span; n = 67); (b) pure genetic thrombocytopenia group (patients with decreased platelet production, normal platelet life span, and without bone marrow aplasia; n = 55); (c) bone marrow aplasia group (BM; patients with decreased platelet production, normal platelet life span, and bone marrow aplasia; n = 13). In patients with pure genetic thrombocytopenia, TPO (median, 55 ng/L) was not different from TPO in patients with ITP (median, 58 ng/L) or controls (n = 54; median, 51 ng/L). Only in patients with bone marrow aplasia was TPO significantly higher (median, 155 ng/L) and negatively correlated to the platelet count (r(2) = 0.5014). Although the median serum TPO is increased in thrombocytopenia with decreased platelet production from bone marrow aplasia, it does not differentiate patients with pure genetic thrombocytopenia from those with ITP.

  9. Imaging features of lower limb malformations above the foot.

    Science.gov (United States)

    Bergère, A; Amzallag-Bellenger, E; Lefebvre, G; Dieux-Coeslier, A; Mezel, A; Herbaux, B; Boutry, N

    2015-09-01

    Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella. Copyright © 2015 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

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

    International Nuclear Information System (INIS)

    Pereira, P.L.; Schick, F.; Farnsworth, C.T.; Mattke, A.; Duda, S.H.; Claussen, C.D.; Einsele, H.; Kollmansberger, C.

    1999-01-01

    Purpose: Evaluation of MR standard imaging and short time inversion recovery (STIR) imaging to assess changes in red bone marrow cellularity after high-dose chemotherapy (HDC) and peripheral blood stem cells transplantation (PBSCT). Results: STIR sequences demonstrated marked changes in signal intensity not only until the aplasia occurred but also during bone marrow repopulation. An increased signal intensity was observed after HDC in 13/15 patients (87%), followed by a decrease in signal intensity immediately after aplasia in 14/15 patients (93%). Signal intensity further changed parallel to marrow engraftment in 11/15 patients (73%). T 2 -TSE only showed clear changes during repopulation in 8/15 patients (53%). The individual course of the signal in T 1 -TSE was markedly inhomogeneous. Conclusions: STIR sequences show bone marrow edema during aplasia and marrow cellularity during reconstitution and are suitable for characterisation of red bone marrow after HDC and autologous PBSCT. (orig.) [de

  11. Mycobacterium intracellulare Infection Mimicking Progression of Scleroderma

    DEFF Research Database (Denmark)

    Krabbe, Simon; Engelhart, Merete; Thybo, Sören

    2017-01-01

    nail fold capillaries, interstitial lung disease, Raynaud's phenomenon, esophageal dysmotility, and positivity for rheumatoid factor and anti-SSA antibodies. She developed massive inflammatory changes of the cutis, the subcutis, and the muscle fasciae of the right leg, that after several failed...

  12. Inventory of Community Satisfaction and Family Support Measures

    Science.gov (United States)

    1991-02-01

    Uri you. last PCs tiiovV to youir ctirrent location, how many monthis (lid yout how-u to wait lot have voto been waiting) for permanent housing? or...0 Drug use 0 0 0 0 . Family separations because of traininci. field Cuty. PCS. TDY. etc. 0 0 O 0 r Juvenile delinquency 0 0 0 0 Lack of employment

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

    International Nuclear Information System (INIS)

    Liang, Y.H.; Wang, H.Y.; Yang, Y.F.; Wang, Y.Y.; Jiang, Q.C.

    2008-01-01

    The evolution process of TiC formation in the 20 wt.% Cu-Ti-C powder mixtures was studied by using differential thermal analysis (DTA), X-ray diffraction (XRD) and scanning electron microscopy (SEM). The Ti x Cu y compounds (Ti 2 Cu, TiCu, Ti 3 Cu 4 and TiCu 4 ) formed initially via solid-state diffusion reactions between Cu and Ti particles; and then Ti 2 Cu and TiCu can form a Cu-Ti eutectic liquids at about 1233 K. The unreacted Ti and C particles dissolved into the Cu-Ti liquids and led to the formation of Cu-Ti-C ternary liquids; subsequently, TiC particulates precipitated out of the saturated liquids. At the same time, also the formation of Ti 2 Cu occurred at the interface between the Cu-Ti liquids and the unreacted Ti particles. As the temperature increased further, the Ti 2 Cu melted and more Cu-Ti liquids formed; and then C particles continuously dissolved into the Cu-Ti-C liquids and TiC particulates gradually precipitated out of the saturated liquids

  14. Author Details

    African Journals Online (AJOL)

    Mahajan, BB. Vol 6, No 1 (2008) - Articles Leukemia cutis in an Indian female – a rare entity. Abstract · Vol 8, No 2 (2010) - Articles Addisons disease in an Indian female – A rarity. Abstract. ISSN: 1815-3941. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More ...

  15. Pathogenetic Basis of Aortopathy and Aortic Valve Disease

    Science.gov (United States)

    2018-02-19

    Aortopathies; Thoracic Aortic Aneurysm; Aortic Valve Disease; Thoracic Aortic Disease; Thoracic Aortic Dissection; Thoracic Aortic Rupture; Ascending Aortic Disease; Descending Aortic Disease; Ascending Aortic Aneurysm; Descending Aortic Aneurysm; Marfan Syndrome; Loeys-Dietz Syndrome; Ehlers-Danlos Syndrome; Shprintzen-Goldberg Syndrome; Turner Syndrome; PHACE Syndrome; Autosomal Recessive Cutis Laxa; Congenital Contractural Arachnodactyly; Arterial Tortuosity Syndrome

  16. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice

    Czech Academy of Sciences Publication Activity Database

    Wang, Y.L.; Zhou, X.Y.; Oberoi, K.; Phelps, R.; Couwenhoven, R.; Sun, M.; Rezza, A.; Holmes, G.; Percival, C.J.; Friedenthal, J.; Krejčí, Pavel

    2012-01-01

    Roč. 122, č. 6 (2012), s. 2153-2164 ISSN 0021-9738 Institutional support: RVO:68081707 Keywords : CUTIS-GYRATA-SYNDROME * ACTIVATED PROTEIN-KINASE * GROWTH-FACTOR RECEPTOR-2 Subject RIV: BO - Biophysics Impact factor: 12.812, year: 2012

  17. Effectiveness of Wharton's jelly stem cells in gastroschisis repair ...

    African Journals Online (AJOL)

    The inner surface of the umbilical patch is a 'live' structure with WJ, which contains mucoid connective tissue and fibroblast-like cells – that is, stem cells producing cutis, adipose, and connective tissue. Results Using our method, early control assessment of 18 of 21 patients with gastroschisis, at intervals of 1–3 months, ...

  18. 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

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

  19. Intraoral telangiectasias associated with Raynaud disease: a report of two cases.

    Science.gov (United States)

    Philipone, Elizabeth; Yoon, Angela J; Zegarelli, David

    2010-01-01

    The finding of intraoral telangiectasias in two patients previously diagnosed with Raynaud disease is reported. Neither patient exhibited any other feature of CREST syndrome, namely, calcinosis cutis, esophageal dysfunction, or sclerodactyly. To the authors' knowledge, this is the first time intraoral telangiectasias has been reported in conjunction with Raynaud disease in the absence of any other features of CREST syndrome.

  20. Verrucous hemangioma

    Directory of Open Access Journals (Sweden)

    M J Cyriac

    1990-01-01

    Full Text Available A 45 years old male had a warty growth on the thigh diagnosed as verrucous hemangioma histopathologically. Earlier he had received treatment under the clinical diagnoses of verruca vulgaris and tuberculosis verrucosa cutis. The lesion was treated with surgical excision and grafting.

  1. Author Details

    African Journals Online (AJOL)

    Agarwal, A. Vol 2, No 2 (2010) - Articles Tuberculosis Verrucosa Cutis Developing over a Keloid: A Rare Presentation Abstract PDF. ISSN: 2006-8808. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

  2. 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...

  3. Nephrogenic systemic fibrosis: late skin manifestations

    DEFF Research Database (Denmark)

    Bangsgaard, Nannie; Marckmann, Peter; Rossen, Kristian

    2009-01-01

    confluent dermal plaques with thickening and hardening. In contrast, 3 patients presented with wrinkled, redundant skin as seen in cutis laxa. Patients with NSF had significantly poorer scores than control patients on the Daily Life Quality Index (mean [SD], 11. 4 [7.4] vs 1.5 [2. 3]; P

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

    International Nuclear Information System (INIS)

    Konde, L.J.; Thrall, M.A.; Gasper, P.; Dial, S.M.; McBiles, K.; Colgan, S.; Haskins, M.

    1987-01-01

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

  5. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence

    DEFF Research Database (Denmark)

    Bjørsum-Meyer, T.; Herlin, M.; Qvist, N.

    2016-01-01

    -Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane...... library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five...

  6. 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.)

  7. Disección de la arteria vertebral asociada a síndrome MURCS

    OpenAIRE

    Santos, M; Cruz, S; Casimiro, C; Biscoito, M; Costa, M

    2017-01-01

    La asociación MURCS (OMIM 60176), también conocida como síndrome de Mayer-RokitanskyKüster-Hauser de tipo II, constituye una rara malformación que afecta aproximadamente a una de cada 50.000 mujeres [1,2]. Consiste en la combinación de aplasia de los conductos de Müller, aplasia o ectopia renal unilateral y displasia de los somitas cervicodorsales, relacionado con deformidades vertebrales del espectro Klippel-Feil, y asociado o no a malformaciones occipitoatloideas [2]. La disección de la ...

  8. Management of complicated urinary tract infections in a referral center in Mexico.

    Science.gov (United States)

    Cornejo-Dávila, Victor; Palmeros-Rodríguez, Mario A; Uberetagoyena-Tello de Meneses, Israel; Mayorga-Gómez, Edgar; Garza-Sáinz, Gerardo; Osornio-Sánchez, Victor; Trujillo-Ortiz, Luis; Sedano-Basilio, Jorge E; Cantellano-Orozco, Mauricio; Martínez-Arroyo, Carlos; Morales-Montor, Jorge G; Pacheco-Gahbler, Carlos

    2015-02-01

    Urinary tract infections are a common problem encountered by primary care, emergency physicians and urologists. A complicated urinary tract infection (CUTI) responds less effectively to the standard treatment. E. coli is the most common pathogen (40-70 %). In Mexico, there are ciprofloxacin resistance rates of 8-73 %, to trimethoprim/sulfamethoxazole 53-71 % and cephalosporins 5-18 %, with an ESBL E. coli prevalence of 10 %. For infections producing gas or purulent material, the percutaneous or endoscopic drainage is the standard. To describe the management of patients with CUTIs, their specifically clinical course and eventual culture results determining the most common isolated microorganisms and their resistance. The clinical records of patients hospitalized with CUTIs from January 2012 to July 2013 were reviewed. One hundred and seventy-three patients were included. Acute pyelonephritis was the most common presentation (53.2 %). The most common microorganism was E. coli (83 %), with ESBL prevalence of 71.4 % and a resistance to quinolone, cephalosporin and trimethoprim of 89.7, 64.7 and 60.3 %, respectively. The most common factors associated with development of CUTIs were recent use of antibiotics (95.3 %) and obstructive uropathy (73.4 %). A total of 41 % received carbapenems and 40.5 % received minimally invasive treatments. Overall mortality was 2.9 %. There were a greater ESBL-producing pathogen prevalence and an over 50 % resistance to classically first-choice antibiotics. The minimally invasive treatments for complicated infections are fundamental; however, nephrectomy still has a role. Wide-spectrum antimicrobial therapy and minimally invasive approaches are the most common treatments for CUTIs in our center, and a reevaluation regarding antibiotic use in Mexico needs to be done.

  9. 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

  10. Maxillary sinus agenesis - report of two cases

    International Nuclear Information System (INIS)

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

    2000-01-01

    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)

  11. 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...

  12. Right lung agenesis | Kumar | African Journal of Paediatric Surgery

    African Journals Online (AJOL)

    Congenital pulmonary agenesis or aplasia is extremely rare. Although more than fi fty percent of patients die before fi rst fi ve years of age, some individuals may remain asymptomatic throughout their life. A threemonth- old female child with right pulmonary agenesis presented to us with severe respiratory distress. She was ...

  13. Tracheobronchial Branching Anomalies

    International Nuclear Information System (INIS)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick; Park, A Young

    2010-01-01

    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. Azoospermia in a Male with Klippel–Feil Anomaly

    Directory of Open Access Journals (Sweden)

    Maria Uloko

    2017-07-01

    Full Text Available Müllerian-duct aplasia, renal agenesis, and cervical somite dysplasia (MURCS is a rare genetic disorder. Previously thought to be exclusive in females, there have now been a small number of case reports describing a male analogue. We describe a patient with obstructive azoospermia and Klippel–Feil anomaly.

  15. 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

  16. Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association.

    Science.gov (United States)

    Castori, Marco; Rinaldi, Rosanna; Cappellacci, Sandra; Grammatico, Paola

    2008-05-15

    VACTERL association is one of the most common recognizable patterns of human malformation and has been recently defined as a multiple polytopic developmental field defect. Limb anomalies are a key component of this condition and characteristically reflect perturbation of radial ray development. However, the pattern of appendicular malformations in VACTERL association is wider and includes a broad spectrum of additional and apparently nonspecific anomalies. We report on the sporadic case of a 4-10/12-year-old boy presenting with multiple costovertebral defects, dextrocardia, bilateral radial ray hypo/aplasia, unilateral kidney agenesis and anal atresia. Homolaterally to the more severe radial ray defect and kidney aplasia, he also has a complex lower limb malformation, consisting of distal tibial aplasia, clubfoot, hallucal deficiency and preaxial polydactyly. Literature review identifies 24 additional patients with VACTERL manifestations and lower limb malformations (excluding cases with isolated secondary deformations). Tibial hypo/aplasia with or without additional tibial field defects, reported in about 2/3 (68%) of the patients, represents the most common finding, while involvement of the fibular ray is rare (20%) and very often accompanies tibial anomalies. The relatively high frequency of tibial ray anomalies in VACTERL patients could easily be explained by the principle of homology of the developmental field theory. Careful search of lower limb anomalies of the "tibial type" is, therefore, indicated in all patients with multiple polytopic developmental field defects. 2008 Wiley-Liss, Inc.

  17. Mayer-Rokitansky-Kuster-Hauser syndrome: Surgical management ...

    African Journals Online (AJOL)

    The Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is a rare anomaly characterized by congenital aplasia of the uterus and vagina in women showing normal development of secondary sexual characters and normal 44 XX karyotype. We report our experience in the management of two patients with congenital ...

  18. Ureteral switch for bilateral ureteropelvic junction obstruction in a ...

    African Journals Online (AJOL)

    L.E. Mubenga

    Abstract. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina. Secondary sexual characteristics and karyotype are normal. This syndrome affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently ...

  19. Ureteral switch for bilateral ureteropelvic junction obstruction in a ...

    African Journals Online (AJOL)

    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina. Secondary sexual characteristics and karyotype are normal. This syndrome affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with ...

  20. Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    NARCIS (Netherlands)

    van Rahden, V.A.; Rau, I.; Fuchs, S.; Kosyna, F.K.; de Almeida, H.L.; Fryssira, H.; Isidor, B.; Jauch, A.; Joubert, M.; Lachmeijer, A.M.A.; Zweier, C.; Moog, U.; Kutsche, K.

    2014-01-01

    Background: Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase

  1. 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.

  2. Bilateral duplication of the internal auditory canal

    International Nuclear Information System (INIS)

    Weon, Young Cheol; Kim, Jae Hyoung; Choi, Sung Kyu; Koo, Ja-Won

    2007-01-01

    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.)

  3. Testicular compensation in Nguni (Bos indicus, Sanga) bulls with ...

    African Journals Online (AJOL)

    Testicular compensation in Nguni. (Bos indicus, Sanga) bulls with unilateral gonadal hypoplasia and aplasia. G.W. Kay* and E.H.H. Meyer. Animal and Dairy Science Research Institute, Private Bag X2,. Irene, 1675 Republic of South Africa. *To whom correspondence should be addressed. The testosterone response to ...

  4. Fanconi's anaemia and anaesthesia

    African Journals Online (AJOL)

    Adele

    of patients. These range from renal aplasia or hypoplasia; horseshoe or ectopic kidneys, to double ureters. Hypogo- nadism is common and often associated with cryptorchidism. CNS manifestations are also varied and 15% are develop- mentally delayed - most likely on the basis of microcephaly or other sensory deficits.

  5. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.

    NARCIS (Netherlands)

    Hynes, A.M.; Giles, R.H.; Srivastava, S.K.; Eley, L.; Whitehead, J.; Danilenko, M.; Raman, S.; Slaats, G.G.G.; Colville, J.G.; Ajzenberg, H.; Kroes, H.Y.; Thelwall, P.E.; Simmons, N.L.; Miles, C.G.; Sayer, J.A.

    2014-01-01

    Nephronophthisis (NPHP) is the major cause of pediatric renal failure, yet the disease remains poorly understood, partly due to the lack of appropriate animal models. Joubert syndrome (JBTS) is an inherited ciliopathy giving rise to NPHP with cerebellar vermis aplasia and retinal degeneration. Among

  6. QUIZ CASE Paediatric neuro-imaging: Diagnosis

    African Journals Online (AJOL)

    Olfactory aplasia. Monoventricle. Intermediate severity. Dorsal cyst seen when thalami are fused. Frontal horns absent. Occipital horns normal. Mild subtype. Present later with visual difficulties or developmental delay. ± Mild olfactory bulb and tract hypogenesis. Mild cognitive and vision impairment. Facial features similar.

  7. Genitourinary dysplasia in a cat

    International Nuclear Information System (INIS)

    Baines, S.J.; Speakman, A.J.; Williams, J.M.; Cheeseman, M.T.

    1999-01-01

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

  8. FREE CONJUNCTIVAL AUTOGRAFT IN THE MANAGEMENT OF ...

    African Journals Online (AJOL)

    hi-tech

    2000-11-11

    Nov 11, 2000 ... pathogenesis of pterygium include ultraviolet light (UVL) exposure(2,7,9), infrared light exposure(7), chronic inflammation, elastodysplasia and elastodystrophy and stem cell aplasia(10). Cameron's global survey of pterygium established a direct relationship between prevalence rates and proximity to the ...

  9. Author Details

    African Journals Online (AJOL)

    Mamman, AI. Vol 18, No 3 (2009) - Articles Zidovudine induced pure red cell aplasia: A case report. Abstract. ISSN: 1115-2613. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL · News.

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

    NARCIS (Netherlands)

    Halim, Liem Andhyk|info:eu-repo/dai/nl/412608294; Brinks, Vera|info:eu-repo/dai/nl/31395979X; Jiskoot, Wim; Romeijn, Stefan; Praditpornsilpa, Kearkiat; Assawamakin, Anunchai; Schellekens, Huub|info:eu-repo/dai/nl/068406762

    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

  11. Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway

    NARCIS (Netherlands)

    Antunes, Ana T.; Goos, Yvonne J.; Pereboom, Tamara C.; Hermkens, Dorien; Wlodarski, Marcin W.; Da Costa, Lydie; MacInnes, Alyson W.

    Mutations in ribosomal protein (RP) genes can result in the loss of erythrocyte progenitor cells and cause severe anemia. This is seen in patients with Diamond-Blackfan anemia (DBA), a pure red cell aplasia and bone marrow failure syndrome that is almost exclusively linked to RP gene

  12. Epilepsy in KCNH1-related syndromes

    NARCIS (Netherlands)

    Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo

    Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb

  13. Prune-Belly Syndrome: A Case Report from Rwanda | Ngendahayo ...

    African Journals Online (AJOL)

    Background: Prune-Belly syndrome, Eagle-Barret syndrome and triad syndrome, all refer to congenital anomalies involving abdominal musculature, urinary tract and testicles. The syndrome consists of a triad of abdominal muscle aplasia, massive ureteral and bladder dilatation and cryptorchidism. Kidneys are often affected ...

  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. Development and simulation of a passive upper extremity orthosis for amyoplasia

    DEFF Research Database (Denmark)

    Jensen, Erik Føge; Raunsbæk, Joakim; Lund, Jan Nørgaard

    2018-01-01

    Introduction People who are born with arthrogryposis multiplex congenita are typically not able to perform activities of daily living (ADL) due to decreased muscle mass, joint contractures and unnatural upper extremity positioning. They are, therefore, potential users of an assistive device capable....... Results For a given configuration using a mono- and a bi-articular spring, the simulations showed that spring stiffnesses of 400?Nm?1 and of 1029?Nm?1, respectively, were able to lower the maximal muscle activity estimated by the musculoskeletal model to a level in which the 10 postures can be realized....... Conclusion By augmenting residual muscle strength with a partially gravity-balanced passive orthosis, ADLs may be achievable for people with arthrogryposis multiplex congenita....

  16. Targeting MED1 LxxLL Motifs for Tissue-Selective Treatment of Human Breast Cancer

    Science.gov (United States)

    2014-09-01

    development, with some of such siRNAs in early-stage clinical trials for treatment of diseases including pachyonchyia congenita, menopausal osteoporosis ...approval of Pegaptanib (Macugen, Eyetech Pharmaceutics/Pfizer) by the US Food and Drug Administration (FDA) for the treatment of age- related macular...protein known to function in angiogenesis and neovascularization in age- related macular degeneration (AMD) and diabetic macular edema (DME) (24, 25

  17. Prevalence study of genetically defined skeletal muscle channelopathies in England.

    Science.gov (United States)

    Horga, Alejandro; Raja Rayan, Dipa L; Matthews, Emma; Sud, Richa; Fialho, Doreen; Durran, Siobhan C M; Burge, James A; Portaro, Simona; Davis, Mary B; Haworth, Andrea; Hanna, Michael G

    2013-04-16

    To obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these disorders. Analysis of demographic, clinical, electrophysiologic, and genetic data of all patients assessed at our national specialist channelopathy service. Only patients living in the United Kingdom with a genetically defined diagnosis of nondystrophic myotonia or periodic paralysis were eligible for the study. Prevalence rates were estimated for England, December 2011. A total of 665 patients fulfilled the inclusion criteria, of which 593 were living in England, giving a minimum point prevalence of 1.12/100,000 (95% confidence interval [CI] 1.03-1.21). Disease-specific prevalence figures were as follows: myotonia congenita 0.52/100,000 (95% CI 0.46-0.59), paramyotonia congenita 0.17/100,000 (95% CI 0.13-0.20), sodium channel myotonias 0.06/100,000 (95% CI 0.04-0.08), hyperkalemic periodic paralysis 0.17/100,000 (95% CI 0.13-0.20), hypokalemic periodic paralysis 0.13/100,000 (95% CI 0.10-0.17), and Andersen-Tawil syndrome (ATS) 0.08/100,000 (95% CI 0.05-0.10). In the whole sample (665 patients), 15 out of 104 different CLCN1 mutations accounted for 60% of all patients with myotonia congenita, 11 out of 22 SCN4A mutations for 86% of paramyotonia congenita/sodium channel myotonia pedigrees, and 3 out of 17 KCNJ2 mutations for 42% of ATS pedigrees. We describe for the first time the overall prevalence of genetically defined skeletal muscle channelopathies in England. Despite the large variety of mutations observed in patients with nondystrophic myotonia and ATS, a limited number accounted for a large proportion of cases.

  18. Measuring quality of life impairment in skeletal muscle channelopathies.

    Science.gov (United States)

    Sansone, V A; Ricci, C; Montanari, M; Apolone, G; Rose, M; Meola, G

    2012-11-01

    Fatigue and pain have been previously shown to be important determinants for decreasing quality of life (QoL) in one report in patients with non-dystrophic myotonia. The aims of our study were to assess QoL in skeletal muscle channelopathies (SMC) using INQoL (individualized QoL) and SF-36 questionnaires. We administered INQoL and SF-36 to 66 Italian patients with SMC (26: periodic paralysis, 36: myotonia congenita and 4: Andersen-Tawil) and compared the results in 422 patients with myotonic dystrophies (DM1: 382; and DM2: 40). (i) INQoL index in SMC is similar to that in DMs (P = 0.79). (ii) Patients with myotonia congenita have the worst perception of QoL. (iii) Myotonia has the most detrimental effect on patients with myotonia congenita, followed by patients with DM2 and then by patients with DM1 and hyperkalemic periodic paralysis. (iv) Pain is a significant complaint in patients with myotonia congenita, hypokalemic periodic paralysis and DM2 but not in DM1. (v) Fatigue has a similar detrimental effect on all patient groups except for patients with hyperkalemic periodic paralysis in whom muscle weakness and myotonia more than fatigue affect QoL perception. (vi) Muscle symptoms considered in INQoL correlate with physical symptoms assessed by SF-36 (R from -0.34 to -0.76). QoL perception in patients with SMC is similar to that of patients with DMs, chronic multisystem disabling conditions. Our results provide information to target treatment and health care of these patients. The sensitivity of INQoL to changes in QoL in the SMC needs to be further explored in longitudinal studies. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS.

  19. Congenital malformations in neonates: analysis of morbidity and associated factors

    OpenAIRE

    Rosana Alves de Melo; Flávia Emília Cavalcante Valença Fernandes; Ana Kariny Costa Araújo; Nadja Maria dos Santos; Maria Elda Alves de Lacerda Campos; Priscylla Helena Alencar Falcão Sobral; Vitória de Barros Siqueira; Roseane da Silva Lemos; Saulo Bezerra Xavier; Alana Mirelle Coelho Leite; Rachel Mola; Luciana Pessoa Maciel; Roberto Luis Pereira dos Santos; Lusineide Carmo Andrade de Lacerda; Gerlene Grudka Lira

    2017-01-01

    Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc). The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenita...

  20. Josef Jadassohn (1863–1936), Felix Lewandowsky (1879–1921), and their syndrome

    Science.gov (United States)

    Al Aboud, Ahmad; Al Aboud, Khalid

    2011-01-01

    Josef Jadassohn (1863–1936) and his assistant, Felix Lewandowsky (1879–1921), were eminent German dermatologists who had several dermatology conditions linked eponymously. One such condition is Jadassohn–Lewandowsky syndrome, which is a type of pachyonychia congenita – a disease that is characterized by severe thickening of the nail due to massive nail hyperkeratosis. This report describes Jadassohn–Lewandowsky syndrome and the men behind this disease. PMID:22253542

  1. Josef Jadassohn (1863-1936), Felix Lewandowsky (1879-1921), and their syndrome.

    Science.gov (United States)

    Al Aboud, Ahmad; Al Aboud, Khalid

    2011-01-01

    Josef Jadassohn (1863-1936) and his assistant, Felix Lewandowsky (1879-1921), were eminent German dermatologists who had several dermatology conditions linked eponymously. One such condition is Jadassohn-Lewandowsky syndrome, which is a type of pachyonychia congenita - a disease that is characterized by severe thickening of the nail due to massive nail hyperkeratosis. This report describes Jadassohn-Lewandowsky syndrome and the men behind this disease.

  2. Josef jadassohn--an appreciation on the occasion of his 150th birthday.

    Science.gov (United States)

    Weyers, Wolfgang

    2013-10-01

    Josef Jadassohn was a pioneering dermatologist who influenced the development of his specialty in many ways. He introduced the patch test for detection of hypersensitivity reactions, gave original descriptions of several entities, such as nevus sebaceous, granulosis rubra nasi, and pachyonychia congenita, and edited the Handbuch der Haut- und Geschlechtskrankheiten, the most comprehensive textbook of dermatology ever published. Moreover, Jadassohn left a phalanx of distinguished students, including Felix Lewandowsky, Wilhelm Lutz, Max Jessner, Hans Biberstein, Hermann Pinkus, and Marion B. Sulzberger.

  3. 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.

  4. A Comparative Study of Computer-Aided Clinical Diagnosis of Birth Defects.

    Science.gov (United States)

    1981-01-21

    Disease Frame in PIP FRAME NAME: ACHONDROPLASIA TYPE: SYNDROME FINDING: STATURE WITH LEVEL SHORT, TYPE DISPROPORTIONATE. AND ONSET AT-BIRTH FINDING...ready for use by the medical community. ---- _ ------ - M -1 n . .i -97. H.B. Sherman Appendix I - List of Syndromes ACHONDROPLASIA ACROFACIAL...Appendix 11 - List of Clinical Cases Case Number Case Name 1 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 2 ACHONDROPLASIA 3 SPONDYLOEPIPHYSEAL DYSPLASIA

  5. The Right Hemisphere Planum Temporale Supports Enhanced Visual Motion Detection Ability in Deaf People: Evidence from Cortical Thickness

    OpenAIRE

    Shiell, Martha M.; Champoux, Fran?ois; Zatorre, Robert J.

    2016-01-01

    After sensory loss, the deprived cortex can reorganize to process information from the remaining modalities, a phenomenon known as cross-modal reorganization. In blind people this cross-modal processing supports compensatory behavioural enhancements in the nondeprived modalities. Deaf people also show some compensatory visual enhancements, but a direct relationship between these abilities and cross-modally reorganized auditory cortex has only been established in an animal model, the congenita...

  6. 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.

  7. 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.

  8. 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.

  9. Unusual Sites of Cutaneous Tuberculosis: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Dimple Chopra

    2017-01-01

    Full Text Available Cutaneous tuberculosis (CTB is an uncommon small subset of extrapulmonary tuberculosis, comprising 1–1.5% of all extrapulmonary tuberculosis manifestations, which manifests only in 8.4–13.7% of all tuberculosis cases. Lupus vulgaris (LV and tuberculosis verrucosa cutis (TBVC are forms of reinfection tuberculosis and often occur in presensitized patients, by exogenous inoculation. We report two cases of cutaneous tuberculosis at unusual sites. A 35-year-old female having a forehead lesion for 2 years was diagnosed as having tuberculosis verrucosa cutis and another 16-year-old girl with lesion in left axilla for 10 years was proven to have lupus vulgaris. The delayed diagnosis was possibly due to lower clinical suspicion due to the presentation of CTB at unusual sites. This highlights the importance of keeping TB as an important differential as misdiagnosis or delayed diagnosis of this entity can lead to prolonged morbidity.

  10. Analysis of the radial transport of tracers in a turbulence simulation

    Science.gov (United States)

    Sánchez Burillo, G.; van Milligen, B. Ph.; Thyagaraja, A.

    2009-04-01

    It has been suggested that radial transport in turbulent plasmas may be nonlocal and non-Markovian. In this paper the transport of test particles in the global, electromagnetic, three-dimensional code CUTIE [A. Thyagaraja et al., Phys. Plasmas 12, 090907 (2005)] is characterized. This code includes a nonlinear feedback mechanism between the meso- and macroscales that are expected to lead to some degree of self-organization that should be reflected in the trajectories of the tracer particles. Several techniques are used to analyze these trajectories, and indeed long-range spatial and temporal correlations are detected, indicating that effective global radial transport in CUTIE does not satisfy the traditional paradigm of diffusive transport. Part of this result can be explained from the existence of propagating ballistic events, and another part from a dependence of local transport properties on the safety factor: local transport is found to depend sensitively on the position relative to specific rational surfaces.

  11. Transport phenomena in RTP: experiment and numerical simulations

    Science.gov (United States)

    Thyagaraja, A.; de Baar, M. R.; Knight, P.; Hogeweij, G. M. D.; Min, E.

    2002-11-01

    CUTIE (a computer model to simulate saturated 2 fluid electromagnetic global turbulence) is used to simulate the transition from an Ohmic to an RTP (circular cross-section, R=0.72m, a=0.16 m) type-D discharge. This is a discharge with dominant, off-axis ECH in which steady state hollow temperature profiles are observed. The dynamics of the q-profile, the bootstrap current, the turbulence drive terms, the E × B flow and the dynamo terms will be followed. The numerical results will be compared with the experimental observations. In particular, we will show that CUTIE positions the barriers near simple rational q values, naturally generates advective transport to support off-axis maxima in Te and produces off-axis MHD events similar to what has been observed in RTP.

  12. Profile-turbulence interactions, magnetohydrodynamic relaxations, and transport in tokamaks

    Science.gov (United States)

    Thyagaraja, A.; Knight, P. J.; de Baar, M. R.; Hogeweij, G. M. D.; Min, E.

    2005-09-01

    The dynamical behavior of the global, two-fluid, electromagnetic model of a tokamak plasma is explored under conditions corresponding to the Rijnhuizen tokamak project [A. J. H. Donné, Plasma Phys. Rep. 20, 192 (1994)] using the CUTIE code [A. Thyagaraja, Plasma Phys. Controlled Fusion 42, B255 (2000)]. Simulations of an off-axis electron-cyclotron-heated (350kW) hydrogen discharge and a purely Ohmic one over several resistive evolution times (τres≃15-20ms) are described. The results illustrate profile-turbulence interactions and the spectral transfer processes implicated in the spontaneous generation and maintenance of mesoscale zonal flows and dynamo currents. Relaxation phenomena, including off- and on-axis sawteeth and periodically repeating edge ballooning instabilities mediated by these mechanisms, are presented. The CUTIE model reproduces many observed features of the experiment qualitatively and suggests that global electromagnetic simulations may play an essential role in understanding tokamak turbulence and transport.

  13. Numerical simulations of turbulence in RTP discharges with dominant off-axis ECH

    Energy Technology Data Exchange (ETDEWEB)

    De Baar, Marco R.; Hogeweij, Pick G.M.; Lopes Cardozo, Niek J. [FOM Instituut voor Plasmafysica Rijnhuizen, Trilateral Euregio Cluster, Nieuwegein (Netherlands); Thyagaraja, Anantanarayanan; Knight, Peter J. [EURATOM/UKAEA Fusion Assoc., Culham Science Centre, Abingdon (United Kingdom)

    2003-07-01

    A two-fluid computer model, CUTIE, of saturated global tokamak turbulence is used to study the transition from an Ohmic to an Rijnhuizen Tokamak Project (RTP) type-D discharge (a discharge with dominant, off-axis ECH featuring steady state hollow temperature profiles). The simulations were done for a few current diffusion times. In particular the role of the evolving q-profile in the self-organization of the plasma has been studied. The dynamics of the bootstrap current, the turbulence drive terms, the ExB flow and the dynamo terms in the induction equation will be discussed. The effect of MHD activity on turbulent transport has been investigated. It will be explained why CUTIE 1) produces barriers near simple rational q values as in RTP, and 2) naturally generates the required advective transport to support off-axis maxima in T{sub e}. (author)

  14. Spectral characteristics of edge magnetic turbulence in COMPASS-D[Nuclear fusion; Edge localised modes

    Energy Technology Data Exchange (ETDEWEB)

    Han, W.; Thyagaraja, A.; Fielding, S. [and others

    1998-12-01

    Edge fluctuation data from both COMPASS-D and calculations with the large-eddy simulation code CUTIE have been analysed with a number of techniques, revealing coherent structures which exhibit high frequency standing-wave oscillations; some of those observed during ELMs have an 'inverse-chirp' character and these are related to a disturbance of the plasma boundary in the lower-inboard quadrant of the poloidal plane. A 'precursor' mode, seen in Ohmic discharges at about 220kHz just before large ELMs, appears to be outward ballooning in character. Although the CUTIE calculations do not yet include ELM simulations, the results seem to correspond qualitatively with those seen between ELMs or during ELM-free periods on COMPASS-D. (author)

  15. Spectral characteristics of edge magnetic turbulence in COMPASS-D

    Science.gov (United States)

    Han, W. E.; Thyagaraja, A.; Fielding, S. J.; Valovic, M.

    2000-02-01

    Edge fluctuation data from both COMPASS-D and calculations with the large-eddy simulation code CUTIE have been analysed with a number of techniques, revealing coherent structures which exhibit high-frequency, standing-wave oscillations; some of those observed during edge localized modes (ELMs) have an `inverse-chirp' character and these are related to a disturbance of the plasma boundary in the lower-inboard quadrant of the poloidal plane. A `precursor' mode, seen in Ohmic discharges at about 220 kHz just before large ELMs, appears to be outward ballooning in character. Although the CUTIE calculations do not yet include ELM simulations, the results seem to correspond qualitatively with those seen between ELMs or during ELM-free periods on COMPASS-D.

  16. FRET biosensor uncovers cAMP nano-domains at β-adrenergic targets that dictate precise tuning of cardiac contractility.

    Science.gov (United States)

    Surdo, Nicoletta C; Berrera, Marco; Koschinski, Andreas; Brescia, Marcella; Machado, Matias R; Carr, Carolyn; Wright, Peter; Gorelik, Julia; Morotti, Stefano; Grandi, Eleonora; Bers, Donald M; Pantano, Sergio; Zaccolo, Manuela

    2017-04-20

    Compartmentalized cAMP/PKA signalling is now recognized as important for physiology and pathophysiology, yet a detailed understanding of the properties, regulation and function of local cAMP/PKA signals is lacking. Here we present a fluorescence resonance energy transfer (FRET)-based sensor, CUTie, which detects compartmentalized cAMP with unprecedented accuracy. CUTie, targeted to specific multiprotein complexes at discrete plasmalemmal, sarcoplasmic reticular and myofilament sites, reveals differential kinetics and amplitudes of localized cAMP signals. This nanoscopic heterogeneity of cAMP signals is necessary to optimize cardiac contractility upon adrenergic activation. At low adrenergic levels, and those mimicking heart failure, differential local cAMP responses are exacerbated, with near abolition of cAMP signalling at certain locations. This work provides tools and fundamental mechanistic insights into subcellular adrenergic signalling in normal and pathological cardiac function.

  17. Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)

    OpenAIRE

    Kantanen, Mari; Kiuru-Enari, Sari; Salonen, Oili; Kaipainen, Markku; Hokkanen, Laura

    2014-01-01

    Hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant form of systemic amyloidosis caused by a c.640G>A or c.640G>T mutation in the gene coding for gelsolin. Principal clinical manifestations include corneal lattice dystrophy, cranial neuropathy and cutis laxa with vascular fragility. Signs of minor CNS involvement have also been observed, possibly related to cerebral amyloid angiopathy (CAA). To investigate further if AGel amyloidosis carries a risk for a specific neuro...

  18. TMI-2 health physics program

    International Nuclear Information System (INIS)

    Ruhter, P.

    1980-01-01

    The field instrumentation used in the TMI-2 decontamination is basically the Eberline standard line of instruments: the R01 Cutie Pie, the R02 and 2A boxes, and a Teletector. Personnel monitoring is done with a Harshaw TLD badge with two chips. The protective clothing is cotton PC's in multiple layers. The mix of isotopes in the TMI-2 coolant system and the health physics impact are discussed. Other potential protective clothings are discussed

  19. The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene

    OpenAIRE

    Eun, So-Hee; Ha, Ki Ssu; Je, Bo-Kyung; Lee, Eung Seok; Choi, Byung Min; Lee, Jung Hwa; Eun, Baik-Lin; Yoo, Kee Hwan

    2007-01-01

    Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also ha...

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

    International Nuclear Information System (INIS)

    Adlassnig, A.; Schuster, J. C.; Smetana, W.; Reicher, R.

    1997-01-01

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

  1. Cutaneous Tuberculosis Ineastern Libya

    Directory of Open Access Journals (Sweden)

    A J Kanwar

    1988-01-01

    Full Text Available Analysis of the clinical and laboratory data from 21 patents of cutaneous tuberculosis seen over a period of 10 years revealed that it is rare in eastern Libya. There were 15 males and 6 females. Lupus vulgaris was seen in 11, scrofuloderma in 4. Three patients each had tuberculosis verrucosa cutis and papulonecrotic tuberculid. The diagnosis in each case was confirmed histopathologically.

  2. A clinicopathological study of 50 cases of cutaneous tuberculosis in Jamnagar District

    Directory of Open Access Journals (Sweden)

    Acharya K

    1997-01-01

    Full Text Available A clinicopathological study of 50 cases of cutaneous tuberculosis was carried out. Majority of patients (30% belonged to the age group 11-20 years. Male to female ratio was 3 : 2. In our study commonest type of cutaneous tuberculosis was lupus vulgaris (36% followed by tuberculosis verrucosa cutis (32% and scrofuloderma (28%. Face and neck were the commonest sites (36% affected. All the patients showed significant response to antituberculosis treatment within a period of 9 months.

  3. Squamous cell carcinoma arising from long-term (50-year) Lupus vulgaris: is there a need for a close medical follow-up in such chronic diseases?

    Science.gov (United States)

    Leocata, P; Crisman, G; Vitale, A R; Siniscalchi, G; Biondi, P; Colella, G

    2009-12-01

    Skin manifestations of tuberculous infection (Mycobacterium tuberculosis) are represented by miliary tuberculosis of the skin, tuberculous chancre, scrofuloderma, tuberculosis verrucosa cutis, periorificial tuberculosis, and lupus vulgaris (LV). Among this group, LV is the most common skin condition, diagnosed in 10% of tuberculotic patients. The authors report herein a case of squamous cell carcinoma (SCC) arising from long-standing (50-year) LV and underline the need of an extensive follow-up of tuberculotic lesions.

  4. Global numerical simulations of turbulence and transport in a tokamak

    Energy Technology Data Exchange (ETDEWEB)

    Thyagaraja, A.

    1996-07-01

    In this work an attempt is made to present an overview of the work on global numerical simulations of tokamak turbulence and transport being conducted at Culham using a two-fluid, electromagnetic, Large Eddy Simulation (LES) code called CUTIE which has been developed for the purpose. This review discusses the motivation and philosophy behind the construction of this code, its principal features, some results and the possible course of future investigations. (UK).

  5. Analysis of measured and simulated electromagnetic turbulence in COMPASS-D

    Energy Technology Data Exchange (ETDEWEB)

    Han, W.E.; Barocio, S.; Thyagaraja, A. [UKAEA/Euratom Fusion Association, Abingdon (United Kingdom). Culham Sci. Centre

    1998-12-01

    Edge fluctuation data from both COMPASS-D and calculations with the large-eddy simulation code CUTIE have been analysed with a number of techniques. Poloidal asymmetries have been uncovered with an antiballooning character and high frequency standing-wave oscillations have been seen, both between and during ELMs. The latter case is manifested in a strong inverse-chirp feature. These results raise fundamental questions for ELM theory and suggest promising avenues for further exploration. (orig.) 5 refs.

  6. Identifikation af forkullet lig ved hjælp af ganeaftryk og koralnyresten

    DEFF Research Database (Denmark)

    Leth, Peter Mygind; Bindslev, Dorthe Arenholt; Kristensen, Ingrid Bayer

    1997-01-01

    , at cristae cutis danner et mønster, som er unikt for hvert enkelt menneske, selv identiske tvillinger. Ganens plicae palatinae danner også et karakteristisk mønster, som på tilsvarende måde kan benyttes til identifikation af dødfundne, fx forkullede lig fra brandtomter. På forkullede lig vil ganen ofte være...

  7. 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.

  8. 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.

  9. Preparation, antibacterial effects and corrosion resistant of porous Cu–TiO2 coatings

    International Nuclear Information System (INIS)

    Wu, Haibo; Zhang, Xiangyu; Geng, Zhenhua; Yin, Yan; Hang, Ruiqiang; Huang, Xiaobo; Yao, Xiaohong; Tang, Bin

    2014-01-01

    Antibacterial TiO 2 coatings with different concentrations of Cu (Cu–TiO 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 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 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 2 coatings. The Cu–TiO 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.

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

    Science.gov (United States)

    Miller, Benjamin W.; Huntington, Jennifer A.; Nicolau, David P.

    2016-01-01

    Abstract 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. PMID:26096377

  11. 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)

  12. Agenesis of Submandibular Glands: A Report of Two Cases with Review of Literature

    Directory of Open Access Journals (Sweden)

    Medine Kara

    2014-01-01

    Full Text Available Background. Congenital absence of the submandibular gland (SMG is a rare condition. Although complaints such as dry mouth, dental problems, or difficulty in swallowing may be seen, the subjects may also be asymptomatic. The absence of the SMG may be associated with hypertrophy of the contralateral SMG. Case Report. We report the case of a 44-year-old woman with incidentally detected left SMG aplasia, with contralateral SMG hypertrophy mimicking a mass, and the case of a 46-year-old woman with incidentally detected bilateral SMG aplasia, demonstrated by computerized tomography (CT and magnetic resonance imaging (MRI. Conclusion. It is important for the clinician to know that this very rare abnormality may exist. When such a case is encountered, symptoms and findings should be reevaluated and, if necessary, conservative therapy should be initiated. The possibility of observing additional deformities should be kept in mind and an evaluation should be done for other cases in the family.

  13. Cleidocranial dysplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-03-15

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

  14. Cochlear implant: what the radiologist should know

    International Nuclear Information System (INIS)

    Gomes, Natalia Delage; Couto, Caroline Laurita Batista; Gaiotti, Juliana Oggioni; Costa, Ana Maria Doffemond; Ribeiro, Marcelo Almeida; Diniz, Renata Lopes Furletti Caldeira

    2013-01-01

    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)

  15. 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.

  16. MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

    Directory of Open Access Journals (Sweden)

    Anna Dabkowska-Huc

    2013-01-01

    Full Text Available A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established. We report the case of an 18-year-old woman who presented with primary amenorrhea, right kidney, Arnold-Chiari malformation, and Klippel-Feil syndrome. In addition, the patient showed the following unusual features: right ovarian and Skenes gland agenesis, cubitus valgus with hyperextension and decreased range of motion at elbows, and facial changes. Moreover, the performed DNA analysis showed interstitial duplication in chromosome 5 (5q35.1. In the duplicated region, there are genes whose function is not well known. It is thought that they have an influence on the early stages of development and their joining in the later period can lead to neoplastic disorders, especially leukemias.

  17. 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.

  18. New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study.

    Science.gov (United States)

    Rodrigo, Maria Jesus; Idoipe, Miriam; Izquierdo, Silvia; Satue, Maria; Mateo, Antonio; Sanchez, Antonio; Garcia-Martin, Elena; Pablo, Luis

    2018-01-01

    Aplasia/agenesis of lacrimal and salivary glands is a rare congenital defect that has been associated with disturbances in fibroblast growth factor 10 (FGF10). It can present with symptoms of congenital lacrimal obstruction, dry eye, and dry mouth. We report the ophthalmological and genetic study of a 19-year-old woman and her relatives suffering from this syndrome. A new probably pathogenic variant is described in the FGF10 gene.

  19. Isolated unilateral pulmonary agenesis and other fetal thoracic anomalies.

    Science.gov (United States)

    Russell, Bronwyn C; Whitecar, Paul; Nitsche, Joshua F

    2014-06-01

    Although the diagnostic workup and management regimens for many of the common fetal thoracic lesions have been well described, the understanding of pulmonary agenesis is more limited. A better understanding of the published reports of this condition is essential to provide proper care for these complicated pregnancies. The aims of this study were to provide a better understanding of the difficulties in the diagnosis and management of fetal thoracic lesions and to consolidate what is known about unilateral pulmonary agenesis. We performed a review of the English medical literature covering the last 20 years (1993-2013) in PubMed, MEDLINE, and MD Consult using search terms pulmonary agenesis, pulmonary aplasia, unilateral pulmonary agenesis, unilateral pulmonary aplasia, lung agenesis, lung aplasia, unilateral lung agenesis, and unilateral lung aplasia. Prenatal diagnosis of pulmonary agenesis and other fetal thoracic lesions can be particularly challenging given that many anomalies have similar appearance on ultrasound. Fetal magnetic resonance imaging has been used in several of the reported cases to clarify the diagnosis. Once confirmed, there are several important prognostic factors to consider in the management of unilateral pulmonary agenesis. Poor prognostic factors include right-sided agenesis, the presence of genetic abnormalities, and other associated congenital anomalies. Fetal magnetic resonance imaging can be a useful imaging modality when the diagnosis is unclear after ultrasound imaging. The management of cases with a poor prognosis should be guided by the nature of the associated anomalies. Cases of isolated pulmonary agenesis have an overall good prognosis and can be managed conservatively during pregnancy, with consideration of delivery at a tertiary care facility in case postnatal respiratory issues arise.

  20. Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

    Directory of Open Access Journals (Sweden)

    Manar Alwohaib

    2017-10-01

    Full Text Available Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Keywords: Alacrima, Lacrimal gland, Lacrimal gland agenesis, Punctal plugs