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Sample records for case cardiopatia congenita

  1. 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.

  2. Pachyonychia Congenita

    Science.gov (United States)

    ... Bullosa Lichen Sclerosus Pachyonychia Congenita Pemphigus Psoriasis Raynaud’s Phenomenon Rosacea Vitiligo All Diseases and Conditions Kids Pages ... on the soles of the feet when a child begins to walk. In some cases, blisters and ...

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

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    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.

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

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    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.

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

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

    2009-10-12

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

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

    African Journals Online (AJOL)

    2015-10-01

    Oct 1, 2015 ... or circular ulcers or scars.1 It could be in a localized area or widespread at birth. The condition is most commonly seen on the scalp in 90% of cases,2 but ACC can affect any part of the body.2, ... trauma, vascular compromise, maternal infections and ... and 9% on both the right and left leg respectively (see.

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

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    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?

  8. Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases.

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    Tamura, Shinichi; Imamura, Toshihiko; Urata, Takayo; Kobayashi, Miki; Gen, Mari; Tomii, Toshihiro; Do, Junko; Osone, Shinya; Ishida, Hiroyuki; Hosoi, Hajime; Kuroda, Hiroshi

    2017-10-01

    Although bone marrow failure in patients with dyskeratosis congenita (DKC) can be successfully treated with allogeneic hematopoietic cell transplantation (allo-HCT) using a reduced intensity conditioning (RIC) regimen, the outcome of nonhematological disorders in patients with DKC treated with allo-HCT using RIC has not been fully elucidated. Here, we describe the clinical course of nonhematological disorders after allo-HCT with RIC in 3 consecutive patients with DKC. Allo-HCT with RIC was feasible in all cases; however, patient 1 developed lethal pulmonary disease and patient 2 experienced progression of hepatic fibrosis. Careful follow-up of patient-specific complications is required after allo-HCT in patients with DKC.

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

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    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.

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

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    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.

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

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    Pajaziti, Laura; Rexhepi, Syzana; Shatri-Mu?a, Ylfete; Ferizi, Mybera

    2009-01-01

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

  12. Spondyloepiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Macpherson, R.I.; Wood, B.P.

    1980-01-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.) [de

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

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    Durković Jasmina

    2014-01-01

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

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

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

    1995-01-01

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

  15. Pachyonychia congenita: A rare genodermatosis

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    Puneet Agarwal

    2013-01-01

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

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

    African Journals Online (AJOL)

    Dyskeratosis congenita is a rare hereditary disease. It mainly affects males and manifest between 5 years and 12 years. Its classic manifestation consists of skin pigmentary changes, nail dystrophy, oral leukoplakia, bone marrow failure and predisposition to malignany. We report the case of a 9-year-old boy who presented ...

  17. 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.

  18. Genetics Home Reference: dyskeratosis congenita

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When dyskeratosis congenita is caused by mutations in other genes, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one ...

  19. 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......–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...

  20. Localised form of spondylo-epiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Hoeffel, J.C.; Mohy, R.; Collignon, P.; Moog, G.

    1988-01-01

    We report an unusual case of spondylo-epiphyseal dysplasia congenita which affected only the hips and the thoraco-lumbar spine. The epiphysis of the long bones are normal apart from the hips. Our child has a bilateral epiphyseal dysplasia of both proximal femoral epiphysis discovered incidentally at 11 months and confirmed later on at 8 years, associated with abnormalities of the superior margin of the vertebral bodies from T11 to L2. Very few similar cases have been reported anteriorly. (orig.) [de

  1. Incidental finding of cutaneous meningeal heterotopia in aplasia cutis congenita.

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    Kenyon, Katharine; Zedek, Daniel; Sayed, Christopher

    2016-07-01

    Aplasia cutis congenita and cutaneous meningeal heterotopia are both rare congenital conditions that most commonly occur on the scalp and may appear clinically and histologically similar. A subtype of aplasia cutis congenita, membranous aplasia cutis congenita, and cutaneous meningeal heterotopia are both proposed to result from neural tube closure errors. However, neither non-membranous nor membranous aplasia cutis congenita are known to occur together with cutaneous meningeal heterotopia in the same lesion. We report the incidental finding of cutaneous meningeal heterotopia within a lesion of aplasia cutis congenita. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Asymptomatic myotonia congenita unmasked by severe hypothyroidism.

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    Passeri, Elena; Sansone, Valeria A; Verdelli, Chiara; Mendola, Marco; Corbetta, Sabrina

    2014-04-01

    Myotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations. Here we report the case of a young woman who sought medical attention because of subacute onset of diffuse and severe limb myotonia. CLCN1 gene sequencing showed a heterozygous transversion (T550M), two polymorphisms and one silent mutation. Thyroid function screening revealed severe hypothyroidism. She was placed on l-thyroxine replacement therapy which dramatically improved myotonia. We conclude that hypothyroidism unmasked a genetically determined, clinically asymptomatic chloride channelopathy. Diagnostic work-up in patients with clinically isolated myotonia should not be limited to genetic screening of non-dystrophic or dystrophic myotonias. Considering the high prevalence of hypothyroidism in females, systematic thyroid function screening by looking for additional hypothyroid symptoms and serum TSH levels measurement is mandatory in these patients. Copyright © 2014 Elsevier B.V. All rights reserved.

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

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    Margarita Valdés-Flores

    2016-01-01

    Full Text Available 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. Resumo: Objetivo: A Artrogripose múltipla congênita é uma síndrome neuromuscular relativamente rara, com prevalência de 1:3000-5000 recém-nascidos. É por isso que, neste estudo, descrevemos as características clínicas de um grupo de 50 casos de pacientes mexicanos não relacionados com Artrogripose múltipla congênita. Métodos: Os pacientes foram diagnosticados por exame físico e radiográfico, e o histórico familiar foi avaliado. Resultados: Descrevemos 50 pacientes não relacionados com Artrogripose múltipla congênita.Nove deles apresentaram outras características (pectus excavatum, fissura palatina, retardo mental, agenesia da ulna, etc.. Foram

  4. Clouston syndrome can mimic pachyonychia congenita

    NARCIS (Netherlands)

    van Steensel, MAM; Jonkman, MF; van Geel, M; Steijlen, PM; McLean, WHI; Smith, FJD

    2003-01-01

    We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be

  5. 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.

  6. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

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    Macpherson, R.I.; Wood, B.P.

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

  7. An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

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    Onur Elbasan

    2017-12-01

    Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.

  8. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

    Science.gov (United States)

    Walne, Amanda J; Vulliamy, Tom; Kirwan, Michael; Plagnol, Vincent; Dokal, Inderjeet

    2013-03-07

    Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essential for telomere maintenance and regulation of homologous recombination, in an individual with familial HHS. Additional screening of RTEL1 identified biallelic mutations in 6/23 index cases with HHS but none in 102 DC or DC-like cases. All 11 mutations in ten HHS individuals from seven families segregated in an autosomal-recessive manner, and telomere lengths were significantly shorter in cases than in controls (p = 0.0003). This group had significantly higher levels of telomeric circles, produced as a consequence of incorrect processing of telomere ends, than did controls (p = 0.0148). These biallelic RTEL1 mutations are responsible for a major subgroup (∼29%) of HHS. Our studies show that cells harboring these mutations have significant defects in telomere maintenance, but not in homologous recombination, and that incorrect resolution of T-loops is a mechanism for telomere shortening and disease causation in humans. They also demonstrate the severe multisystem consequences of its dysfunction. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  9. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

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    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.

  10. [Aplasia cutis congenita associated with epidermolysis bullosa].

    Science.gov (United States)

    Muñoz-Guerrero, Félix; Muñoz-Solís, Adrián Antonio; Ornelas-Aguirre, José Manuel

    2017-12-01

    Aplasia cutis congenita (ACC) is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical. Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum. It was handled with allograft of epidermis cultured in vitro, general wound care and clinical follow-up. ACC associated with epidermolysis bullosa is one of the rarer forms of presentation. It is necessary to rule out other skin diseases. Clinical management is recommended with biological or synthetic skin cover, infection prevention, early treatment of complications and clinical follow. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  11. A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita

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    Yuichiro Ishida

    2018-02-01

    Full Text Available A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opacity which was localised at the posterior stromal depth in the central cornea. Unlike the two previously reported cases of diffuse and nodular patterns of corneal opacity in SEDC, the current case exhibited a rare form of corneal opacity. SEDC is one of the type II collagenopathies, characterised by dwarfism because the mutations in COL2A1 prevent bone growth. Although the existence of type II collagen has not been reported in the human corneal stroma, the aetiology of the opacity in the corneal stroma in SEDC type II collagenopathy is of interest.

  12. Strain bidimensional na cardiopatia de Takotsubo Two-dimensional strain in Takotsubo cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Carlos Bellini G. Gomes

    2010-08-01

    Full Text Available Este relato apresenta o seguimento tardio de um caso de cardiomiopatia de Takotsubo com boa evolução clínica e melhora da função sistólica global ventricular esquerda. Contudo, observou-se persistência de significativa disfunção sistólica regional longitudinal que foi avaliada por meio de nova técnica ecocardiográfica (speckle tracking, com as medidas do strain (S e strain rate (SR correspondentes. Ressaltamos a importância desse novo método para o acompanhamento dessa cardiopatia, pois permite identificar os pacientes que persistem com disfunção sistólica e que possivelmente serão beneficiados com a manutenção da terapêutica clínica.This report presents the late follow-up of a case of Takotsubo cardiomyopathy with good clinical outcome and improved left ventricular global systolic function. However, there was persistence of significant regional longitudinal systolic dysfunction evaluated using a new echocardiographic technique (speckle tracking, with corresponding measures of strain (S and strain rate (SR. We emphasize the importance of this new method to monitoring this cardiomyopathy, since it identifies patients with persistent systolic dysfunction who will possibly benefit from maintenance of clinical therapy

  13. Cardiopatias congênitas e malformações extracardíacas

    Directory of Open Access Journals (Sweden)

    Rosana Cardoso M. Rosa

    2013-06-01

    Full Text Available OBJETIVO: Revisar a associação entre cardiopatias congênitas e malformações extracardíacas. FONTES DE DADOS: A pesquisa incluiu artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se os descritores "congenital heart disease", "congenital heart defects", "congenital cardiac malformations", "extracardiac defects" e "extracardiac malformations". Foram incluídos os artigos de séries de casos que exploravam especificamente a associação entre cardiopatias congênitas e malformações extracardíacas. SÍNTESE DOS DADOS: A cardiopatia congênita é responsável por cerca de 40% dos defeitos congênitos, sendo uma das malformações mais frequentes e a de maior morbimortalidade. Malformações extracardíacas são observadas em 7 a 50% dos pacientes com cardiopatia congênita, trazendo um risco ainda maior de comorbidade e mortalidade e tornando a cirurgia cardíaca mais arriscada. Diferentes estudos têm tentado avaliar a presença de anormalidades extracardíacas em pacientes portadores de cardiopatia congênita. Dentre as alterações descritas, destacam-se aquelas do trato urinário. Contudo, não houve um estudo que tenha avaliado do mesmo modo todos os pacientes. CONCLUSÕES: Anormalidades extracardíacas são frequentes em pacientes com cardiopatia congênita, sendo que os portadores de tais alterações podem apresentar um risco maior de morbimortalidade. Consequentemente, alguns autores vêm discutindo a importância e o custo-benefício da triagem destas crianças à procura de outras malformações por meio de exames complementares.

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

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    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.

  15. Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia

    Directory of Open Access Journals (Sweden)

    Unnati D. Desai

    2017-01-01

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

  16. Chloride channels in myotonia congenita assessed by velocity recovery cycles.

    Science.gov (United States)

    Tan, S Veronica; Z'Graggen, Werner J; Boërio, Delphine; Rayan, Dipa Raja; Norwood, Fiona; Ruddy, Deborah; Howard, R; Hanna, Michael G; Bostock, Hugh

    2014-06-01

    Myotonia congenita (MC) is caused by congenital defects in the muscle chloride channel CLC-1. This study used muscle velocity recovery cycles (MVRCs) to investigate how membrane function is affected. MVRCs and responses to repetitive stimulation were compared between 18 patients with genetically confirmed MC (13 recessive, 7 dominant) and 30 age-matched, normal controls. MC patients exhibited increased early supernormality, but this was prevented by treatment with sodium channel blockers. After multiple conditioning stimuli, late supernormality was enhanced in all MC patients, indicating delayed repolarization. These abnormalities were similar between the MC subtypes, but recessive patients showed a greater drop in amplitude during repetitive stimulation. MVRCs indicate that chloride conductance only becomes important when muscle fibers are depolarized. The differential responses to repetitive stimulation suggest that, in dominant MC, the affected chloride channels are activated by strong depolarization, consistent with a positive shift of the CLC-1 activation curve. Copyright © 2013 Wiley Periodicals, Inc.

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

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    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

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

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    Marta Loureiro

    2015-09-01

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

  19. Embolia cerebral na cardiopatia crônica chagásica

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    Abdo Badim

    1966-03-01

    Full Text Available Depois de breve análise sôbre a cardiopatia crônica chagásica e os fenômenos tromboembólicos dela decorrentes, o autor apresenta um exemplar da espécie com manifestações cerebrais, caracterizadas por afasia motora e hemiplegia sensitivo-motora, de predominância cefalobraquial. Foi o caso estudado sob os aspectos clínico, laboratorial e radiológico, os quais conduziram de modo inequívoco ao diagnóstico.

  20. Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

    Science.gov (United States)

    Yamaguchi, Hiroki; Sakaguchi, Hirotoshi; Yoshida, Kenichi; Yabe, Miharu; Yabe, Hiromasa; Okuno, Yusuke; Muramatsu, Hideki; Takahashi, Yoshiyuki; Yui, Shunsuke; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Inokuchi, Koiti; Ito, Etsuro; Ogawa, Seishi; Kojima, Seiji

    2015-11-01

    Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and genetic features of DKC have been investigated in Caucasian, Black, and Hispanic populations, but not in Asian populations. The present study aimed to determine the clinical and genetic features of DKC, HHS, and cryptic DKC among Japanese patients. We analyzed 16 patients diagnosed with DKC, three patients with HHS, and 15 patients with cryptic DKC. We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. This led to some patients previously considered to have unclassifiable BMF being diagnosed with cDKC through identification of new gene mutations. It thus seems important from a clinical viewpoint to re-examine the clinical characteristics, frequency of genetic mutations, and treatment efficacy in DKC, HHS, and cDKC.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

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

    NARCIS (Netherlands)

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

    2008-01-01

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

  3. 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:

  4. Carvedilol atenua o estresse oxidativo na cardiopatia chagásica crônica

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    Patrícia Budni

    2012-03-01

    Full Text Available FUNDAMENTO: Há cada vez mais evidências sugerindo que doença de Chagas envolve dano oxidativo e contribui para a progressão da doença cardíaca. OBJETIVO: Avaliar o efeito do carvedilol sobre marcadores de estresse oxidativo na doença de Chagas crônica. MÉTODOS: A população de estudo incluiu 42 pacientes com cardiopatia chagásica e os biomarcadores de estresse oxidativo foram medidos antes e após um período de seis meses de tratamento com carvedilol (37,5 mg/dia. Os pacientes foram considerados de acordo com a classificação de Los Andes, e a atividade da superóxido dismutase, catalase, glutationa peroxidase, S-transferase e redutase, mieloperoxidase e adenosina deaminase; e os níveis de glutationa reduzida, de espécies reativas do ácido tiobarbitúrico, proteína carbonil, vitamina E e óxido nítrico foram medidos no sangue. RESULTADOS: Após o tratamento com carvedilol, todos os grupos apresentaram reduções significativas nos níveis de proteína carbonil e glutationa reduzida, enquanto os níveis de óxido nítrico e atividade da adenosina aumentaram significativamente somente no grupo IA. Além disso, a maioria das enzimas antioxidantes apresentou diminuição de suas atividades, nos grupos IA e IB. CONCLUSÃO: Os dados sugerem que o tratamento com carvedilol foi eficaz na atenuação do dano oxidativo, um efeito que pode ser particularmente importante em doença de Chagas crônica com cardiopatia.

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Wei Cheng

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

  7. Prevalencia de malformaciones cardíacas congenitas en 44,985 nacimientos en Colombia§

    OpenAIRE

    Baltaxe,Erik; Zarante,Ignacio

    2006-01-01

    Objetivo: Estimar la prevalencia de malformaciones congenitas cardíacas en Colombia usando la metodología del Estudio Colaborativo Latinoamericano de Malformaciones Congenitas y hacer una descripción epidemiológica de la población estudiada. Material y métodos: Estudio prospectivo de casos y controles anidado en una cohorte que incluyó 44,985 neonatos nacidos entre junio 1 de 2001 y abril 30 de 2005 en once hospitales de Colombia. Resultados: Se reportaron 55 casos (1.2 por 1,000). Treinta y ...

  8. Incidência de acidente cerebro-vascular embólico na cardiopatia chagásica crônica

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    A. Spina-França

    1974-09-01

    Full Text Available A incidência de acidente vascular cerebral embólico na cardiopatia chagásica crônica foi avaliada a partir de duas séries consecutivas de casos: a primeira compreendendo 63 pacientes com cardiopatia chagásica crônica e, a segunda, 84 pacientes com acidentes cerebrovasculares, 59 dos quais de tipo não hemorrágico. Em relação aos casos de cardiopatia chagásica crônica a incidência de acidente vascular cerebral embólico mostrou-se da ordem de 3,17%; em relação aos acidentes cerebrovasculares, da ordem de 4,76% e quando considerados apenas aqueles de tipo não hemorrágico, da ordem de 6,78%.

  9. 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...

  10. 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.

  11. Botulinum toxin in myotonia congenita: it does not help against rigidity and pain.

    Science.gov (United States)

    Dressler, Dirk; Adib Saberi, Fereshte

    2014-05-01

    Botulinum toxin (BT) is a potent local muscle relaxant with analgetic properties. Myotonia congenita (MC) is a genetic disorder producing muscle rigidity and pain. BT injected into the trapezius produced mild paresis, but no effect on rigidity and pain. There were no signs of systemic effects. Lack of BT efficacy on MC rigidity confirms its origin from muscle membrane dysfunction rather than from inappropriate neuromuscular activation. Lack of BT efficacy on pain could be caused by lack of anti-rigidity effect. It could also be due to separate non-muscular pain mechanisms unresponsive to BT.

  12. Prevalência de dislipidemia em população infantil com cardiopatia congênita

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    Gabriela Fuenmayor

    2013-09-01

    Full Text Available A dislipidemia é um dos grandes fatores de risco associados a doenças cardiovasculares. Poucos são os dados relacionados ao impacto da cardiopatia congênita na prevalência da dislipidemia na população pediátrica. O objetivo deste estudo foi avaliar o perfil lipídico de crianças portadoras de cardiopatia congênita seguidas em um centro de referência. Foram incluídos 52 pacientes pediátricos que tiveram perfil lipídico, metabólico e clínico determinados entre janeiro de 2011 e julho de 2012. Com média de idade de 10,4 ± 2,8 anos e predominância do sexo masculino (1,38:1, nossa população apresentou 53,8% de pacientes com aumento no colesterol total e 13,4% (IC 95% de 6,6-25,2% de crianças que também apresentavam LDL > 130 mg/dL, caracterizando dislipidemia. Dos pacientes com dislipidemia, só doisforam classificados como obesos. Concluímos que a presença de cardiopatia congênita não confere risco aumentado associado à presença de dislipidemia, devendo o rastreamento nessa população seguir as mesmas diretrizes da população pediátrica normal, as quaistambém independem do estado nutricional da criança.

  13. Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results.

    Science.gov (United States)

    Gracis, M; Keith, D; Vite, C H

    2000-09-01

    Myotonia is a clinical sign characterized by the delay of skeletal muscle relaxation following the cessation of a voluntary activity or the termination of an electrical or mechanical stimulus. Recently, Miniature Schnauzers with myotonia congenita associated with defective chloride ion conductance across the skeletal muscle membrane were identified. Congenital myotonia in these dogs appears to follow an autosomal recessive mode of inheritance. Craniofacial and dental findings of eight Miniature Schnauzer dogs with myotonia congenita are described in the present paper. These findings include: delayed dental eruption of both deciduous and permanent dentition: persistent deciduous dentition; unerupted or partially erupted permanent teeth: crowding and rotation of premolar and or incisor teeth: missing teeth: increased interproximal space between the maxillary fourth premolar and first molar teeth: decreased interproximal space between the maxillary canine and lateral incisor teeth: inability to fully close the mouth due to malocclusion: distoclusion: and, decreased mandibular range of motion. A long narrow skull with a flattened zygomatic arch and greater mandibular body curvature were also consistent findings in the affected dogs. The small number of dogs studied prevents conclusive statements about the origin of these abnormalities, however it is interesting that only 1 of 45 unaffected Miniature Schnauzer dogs showed similar traits.

  14. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

    Science.gov (United States)

    Gramatges, Maria M; Bertuch, Alison A

    2013-12-01

    Telomeres are DNA-protein structures that form a protective cap on chromosome ends. As such, they prevent the natural ends of linear chromosomes from being subjected to DNA repair activities that would result in telomere fusion, degradation, or recombination. Both the DNA and protein components of the telomere are required for this essential function, because insufficient telomeric DNA length, loss of the terminal telomeric DNA structure, or deficiency of key telomere-associated factors may elicit a DNA damage response and result in cellular senescence or apoptosis. In the setting of failed checkpoint mechanisms, such DNA-protein defects can also lead to genomic instability through telomere fusions or recombination. Thus, as shown in both model systems and in humans, defects in telomere biology are implicated in cellular and organismal aging as well as in tumorigenesis. Bone marrow failure and malignancy are 2 life-threatening disease manifestations in the inherited telomere biology disorder dyskeratosis congenita. We provide an overview of basic telomere structure and maintenance. We outline the telomere biology defects observed in dyskeratosis congenita, focusing on recent discoveries in this field. Last, we review the evidence of how telomere biology may impact sporadic aplastic anemia and the risk for various cancers. Copyright © 2013 Mosby, Inc. All rights reserved.

  15. Transição para a parentalidade no contexto de cardiopatia congênita do bebê

    Directory of Open Access Journals (Sweden)

    Cristina Saling Kruel

    Full Text Available O estudo objetivou investigar o processo de transição para a parentalidade no contexto de cardiopatia congênita do bebê. Participaram do estudo quatro casais, cujos filhos nasceram com malformação cardíaca. Utilizou-se delineamento de estudo de caso coletivo. Mãe e pai foram entrevistados sobre os primeiros momentos após o nascimento do bebê e a experiência da maternidade e da paternidade, respectivamente. Análise de conteúdo indicou que o diagnóstico de cardiopatia do bebê interfere no processo de parentalização. Destacou-se a intensa preocupação das mães com a sobrevivência dos bebês, evidenciada por meio da dedicação exclusiva a eles. Os pais demonstram-se envolvidos com seus filhos, assumindo também a tarefa de proteger as mães. Conclui-se que os sentimentos relativos à parentalidade focalizaram-se na sobrevivência do bebê.

  16. 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

  17. Evolução dos conhecimentos sôbre a cardiopatia da doenca de Chagas: revisão crítica da literatura

    Directory of Open Access Journals (Sweden)

    Francisco S. Laranja

    1949-12-01

    Full Text Available Foi feita uma revisão critica da literatura sobre cardiopatia da Doença de Chagas, discutindo-se os principais aspectos clínicos desta cardiopatia á luz da experiência por nós adquirida nestes últimos anos. A evolução dos conhecimentos clínicos sobre esquisotripanose pode ser sintetisada em três fases: a A primeira corresponde á descoberta da doença, feita por Chagas, e á descrição por ele e seus primeiros colaboradores das manifestações clínicas essenciais da nova entidade mórbida, na qual distinguiu a forma aguda e várias formas crônicas. b Na segunda fase, a pesquisa orientou-se essencialmente pela busca dos casos de infecção aguda, havendo considerável duvida a respeito da realidade clinica das formas crônicas da infecção. Durante um longo período raros casos de cardiopatia crônica foram publicados. Ate o momento acual (1948 encontram-se na literatura estrangeira 134 casos de cardiopatia crônica chagásica, dos quais 9 autopsiados; ate fins de 1944, o numero de casos publicados no Brasil, fora de Lassance, era de 45, dos quais 3 autopsiados. c A terceira fase ou fase atual, tende a caracterisar-se por um interesse particular nos casos de infecção crônica, orientando-se porém a pesquisa cli¬nica essencialmente pelas manifestações da cardiopatia. Contribuições recentes de ordem clínica e experimental trouxeram ampla confirmação as idéias de Chagas a respeito desta cardiopatia e colocaram-na em posição de entidade clinica de realidade indiscutível. Sua importância social esta sendo determinada e os dados disponíveis já lhe apontam relevante significação em certas regiões. Mais de 600 casos de cardiopatia crônica chagásica foram publicados no Brasil nestes últimos quatro anos.

  18. Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

    Science.gov (United States)

    Ungar, Rachel A; Giri, Neelam; Pao, Maryland; Khincha, Payal P; Zhou, Weiyin; Alter, Blanche P; Savage, Sharon A

    2018-06-01

    Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome caused by germline mutations in telomere biology genes. Patients have extremely short telomeres for their age and a complex phenotype including oral leukoplakia, abnormal skin pigmentation, and dysplastic nails in addition to bone marrow failure, pulmonary fibrosis, stenosis of the esophagus, lacrimal ducts and urethra, developmental anomalies, and high risk of cancer. We evaluated a patient with features of DC, mood dysregulation, diabetes, and lack of pubertal development. Family history was not available but genome-wide genotyping was consistent with consanguinity. Whole exome sequencing identified 82 variants of interest in 80 genes based on the following criteria: homozygous, <0.1% minor allele frequency in public and in-house databases, nonsynonymous, and predicted deleterious by multiple in silico prediction programs. Six genes were identified likely contributory to the clinical presentation. The cause of DC is likely due to homozygous splice site variants in regulator of telomere elongation helicase 1, a known DC and telomere biology gene. A homozygous, missense variant in tryptophan hydroxylase 1 may be clinically important as this gene encodes the rate limiting step in serotonin biosynthesis, a biologic pathway connected with mood disorders. Four additional genes (SCN4A, LRP4, GDAP1L1, and SPTBN5) had rare, missense homozygous variants that we speculate may contribute to portions of the clinical phenotype. This case illustrates the value of conducting detailed clinical and genomic evaluations on rare patients in order to identify new areas of research into the functional consequences of rare variants and their contribution to human disease. © 2018 Wiley Periodicals, Inc.

  19. Anormalidades cromossômicas entre pacientes com cardiopatia congênita

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2013-12-01

    Full Text Available FUNDAMENTO: As anormalidades cromossômicas (ACs representam importante causa de cardiopatia congênita (CC. OBJETIVO: Determinar a frequência, os tipos e as características clínicas de ACs identificadas em uma amostra prospectiva e consecutiva de pacientes com CC. MÉTODO: Nossa amostra foi composta por pacientes com CC avaliados em sua primeira hospitalização em uma unidade cardíaca de tratamento intensivo de um hospital pediátrico de referência do sul do Brasil. Todos os pacientes foram submetidos à avaliação clínica e citogenética, através do cariótipo de alta resolução. Os defeitos cardíacos foram classificados segundo Botto e cols. Na análise estatística utilizou-se o qui-quadrado, o teste exato de Fisher e odds ratio (p < 0,05. RESULTADOS: Nossa amostra foi composta de 298 pacientes, 53,4% do sexo masculino, com idades variando de um dia a 14 anos. Anormalidades cromossômicas foram observadas em 50 pacientes (16,8%, sendo que 49 deles eram sindrômicos. Quanto às ACs, 44 delas (88% eram numéricas (40 pacientes com +21, dois com +18, um com triplo X e um com 45,X e seis (12% estruturais [dois pacientes com der(14;21, +21, um com i(21q, um com dup(17p, um com del(6p e um com add(18p]. O grupo de CCs mais associado a ACs foi o do defeito de septo atrioventricular. CONCLUSÕES: ACs detectadas pelo cariótipo são frequentes entre pacientes com CC. Assim, os profissionais - especialmente aqueles que trabalham em serviços de cardiologia pediátrica - devem estar cientes das implicações que a realização do cariótipo pode trazer, tanto para o diagnóstico, tratamento e prognóstico desses pacientes como para o seu aconselhamento genético.

  20. 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

  1. TOLERÂNCIA AO EXERCÍCIO, FUNÇÃO PULMONAR, FORÇA MUSCULAR RESPIRATÓRIA E QUALIDADE DE VIDA EM CRIANÇAS E ADOLESCENTES COM CARDIOPATIA REUMÁTICA

    OpenAIRE

    Andressa Lais Salvador de Melo; Yasmin França Bezerra de Lira; Luziene Alencar Bonates Lima; Fabiana Cavalcanti Vieira; Alexandre Simões Dias; Lívia Barboza de Andrade

    2018-01-01

    RESUMO Objetivo: Apesar da alta prevalência de cardiopatia reumática no nosso país, a ocorrência de prejuízos funcionais em crianças e adolescentes com cardiopatia reumática não está esclarecida. Este estudo visou avaliar tolerância ao exercício, força muscular respiratória, função pulmonar e qualidade de vida de crianças e adolescentes com cardiopatia reumática. Métodos: Estudo transversal, realizado de agosto a dezembro de 2014, com portadores de cardiopatia reumática de 8 a 16 anos de ...

  2. O papel da translucência nucal no rastreamento de cardiopatias congênitas The role of nuchal translucency in the screening for congenital heart defects

    Directory of Open Access Journals (Sweden)

    Rafael Frederico Bruns

    2006-09-01

    Full Text Available OBJETIVO: Avaliar a acurácia da medida da translucência nucal (TN entre onze e treze semanas e seis dias como marcador ultra-sonográfico para rastreamento de cardiopatias congênitas (CC. MÉTODOS: Estudo multicêntrico retrospectivo, no qual foram analisadas gestações únicas de fetos euplóides. A medida da TN foi realizada no exame de primeiro trimestre quando os fetos tinham entre 45 e 84 mm de comprimento cabeça-nádega (CCN, segundo os critérios estabelecidos pela Fetal Medicine Foundation. Os casos foram seguidos até um mês após o parto para avaliar a presença de CC. RESULTADOS: Foram analisadas 3.664 gestações, das quais vinte recém-nascidos apresentaram alguma cardiopatia congênita até o primeiro mês de vida (prevalência de 0,55%. A mediana da TN nos fetos com CC foi de 1,70 mm e nos fetos sem CC foi de 1,60 mm; entretanto, não houve diferença significativa entre as duas medianas (Teste de Mann-Whitney, p>0,05. A sensibilidade da TN na detecção de CC variou de 15% a 20%, com probabilidade de falso-positivos de 86,4% a 97,9%, dependendo do ponto de corte utilizado. A razão de chance para CC foi alta, quando comparada com as indicações clássicas de ecocardiografia fetal, variando de 4,7 a 33,7, de acordo com o ponto de corte utilizado. CONCLUSÃO: Apesar da baixa sensibilidade do teste, a TN aumentada é um importante fator de risco para CC, devendo ser incluída na estratégia do seu rastreamento pré-natal.OBJECTIVE: Assess the accuracy of the nuchal translucency (NT measurement between 11 and 13 weeks and 6 days of gestation as a sonographic marker to screen for congenital heart defects (CHD. METHODS: Multicentric retrospective study, analyzing single pregnancies from euploid fetuses. NT measurement was performed in the first trimester, when fetuses had from 45 to 84 mm of crown-rump length (CRL, according to the criteria established by the Fetal Medicine Foundation. Cases were followed until 1 month after

  3. 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.

  4. Incidência da cardiopatia chagásica em 15.000 necrópsias consecutivas e sua associação com os «megas»

    Directory of Open Access Journals (Sweden)

    A. J. A. Barbosa

    1970-08-01

    Full Text Available Os AA. estudaram, a incidência da cardiopatia chagásica em 15.000 necrópsias consecutivas e sua associação com os megas. Em 875 cardiopatias chagásicas houve 145 casos de megas, ou seja, 16,56%, com predominância do sexo masculino. No branco houve maior incidência (55 de megas do que no mulato (53 e no negro (31 dentre 858 cardiopatias chagásicas. Em 848 cardiopatias chagásicas, 85,78% eram de indivíduos que faleceram entre 21 e 60 anos. O maior número de cardiopatias (120 ou 14,14% e de "megas'' (21 ou 15,78% foi encontrado nos indivíduos entre 36 a 40 anos. Os nossos resultados mostram uma incidência diferente da associação cardiopatia-mega, em comparação da observada em outras regiões do País e em outros países da América do Sul.

  5. A inclusão do escore de risco na tomada de decisão em cardiopatia valvar

    Directory of Open Access Journals (Sweden)

    Ricardo Casalino

    2012-06-01

    Full Text Available Fatos clínicos e dados numéricos sustentam interpretações sobre qualidade de vida e sobrevida no portador de cardiopatia valvar. Tais dados são úteis na tomada de decisão sobre interrupção da história natural e substituição por uma história pós-correção hemodinâmica. Competência e expertise interdisciplinar são exigidas para maximizar o resultado necessário e possível. Contudo, o ideal das recomendações para a obtenção do mais alto grau de satisfação terapêutica pelo portador de cardiopatia valvar sofre a influência de um conjunto de variáveis, parte ligadas a especificações do paciente, parte decorrentes de limitações dos métodos. O racional do escore de risco validado para marcadores múltiplos é o acréscimo de acurácia quantitativa à avaliação clínica prognóstica baseada na heterogeneidade da experiência individual e na intuição. Nesse contexto, o uso dos escores de riscos com função de predizer mortalidade pós-operatória são ferramentas úteis, de fácil aplicabilidade e que nos oferece dados objetivos sobre a situação do paciente. Das ferramentas disponíveis (EuroSCORE, STS score e Ambler Score e utilizadas de forma assistencial, nenhuma apresenta validação em nossa população.

  6. 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.

  7. Myotonia congenita

    Science.gov (United States)

    ... trouble swallowing in an infant Long-term (chronic) joint problems Weakness of the abdominal muscles When to ... A.M. Editorial team. Muscle Disorders Read more Neuromuscular Disorders Read more NIH MedlinePlus Magazine Read more ...

  8. Myotonia Congenita

    Science.gov (United States)

    ... the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies. Information from the National Library of Medicine’s MedlinePlus ...

  9. Atrichia congenita

    Directory of Open Access Journals (Sweden)

    Marfatia Y

    1991-01-01

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

  10. O conduto valvulado bovino contegra, um biomaterial para o tratamento cirúrgico de cardiopatias congênitas

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available O Contegra, um enxerto de veia jugular bovina, tem sido amplamente utilizado como biomaterial de preferência no tratamento cirúrgico das cardiopatias congênitas, especialmente como um conduto para a reconstrução da via de saída ventricular direita. Este artigo tem como objetivo fazer uma revisão abrangente sobre os desfechos clínicos do Contegra. Foram recuperados, coletados e analisados, relatos de Contegra publicados desde 2002. Havia 1.718 Contegra, aplicados em 1.705 pacientes. Os tamanhos dos condutos foram de 8-22 mm. As idades dos pacientes foram de recém-nascidos até 74,5 anos, com prevalência de pacientes pediátricos. O diagnóstico primário foi cardiopatia congênita em todos os casos, sendo os três diagnósticos principais: tetralogia de Fallot, tronco arterioso e atresia pulmonar, que representaram 25,6%, 16,7% e 13,1%, respectivamente. O Contegra foi utilizado como enxerto tubular na posição pulmonar em 1635 (95,9% pacientes, como remendo monocúspide em 12 (0,7%, como enxerto na posição da valva pulmonar ou monocúspide em 40 (2,3%, e, como conduto artéria pulmonar-veia cava inferior na operação de Fontan, em 18 (1,1% pacientes, respectivamente. O reimplante de conduto foi realizado em 141 (8,3% pacientes, 33,8 ± 37 (8,6-106,8 meses após a inserção do conduto inicial. A plástica do conduto foi necessária em seis (0,4% e a reintervenção em 83 (4,9% dos pacientes. As indicações do reimplante do conduto incluíram estenose importante da anastomose distal, pseudoaneurisma da anastomose proximal e regurgitação importante do conduto. Quanto ao bom desempenho, disponibilidade e longevidade, o Contegra é um biomaterial adequado para a reconstrução da via de saída ventricular direita e como remendo para reparo de comunicação interventricular, mas não é apto para a operação de Fontan.

  11. Alterações neurológicas nas cardiopatias congênitas um estudo neuropatológico

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    S. Rosemberg

    1992-03-01

    Full Text Available Estudo neuropatológico foi realizado em 190 autópsias consecutivas de pacientes com cardiopatias congênitas: 116 casos foram operados (grupo cirúrgico, GCg e os 74 restantes formam o grupo clínico (GCI. Alterações neuropatológicas foram observadas em 71 casos (41 no GCg e 30 no GCI. Entretanto, a maior parte dos 129 casos com exame normal morreu nas primeiras 72 horas após a cirurgia ou os eventos clínicos responsáveis pela morte. Quase todas as alterações foram hipóxico-isquêmicas. Infartos, únicos ou múltiplos, foram encontrados em 41 casos (23 no GCg e 18 no GCI. Mecanismo embólico foi detectado em 12 casos. Alterações hipóxicas difusas estavam presentes em 17 casos (10 no GCg e 7 no GCI. Hemorragias foram encontradas em 11 (6 no GCg e 5 no GCI. Em 17 casos (5 no GCI e 12 no GCg, o quadro foi o de uma leucomalacia periventricular. Todos os casos eram concernentes a crianças abaixo de 6 meses de idade. Em 7 casos, alterações inflamatórias foram detectadas (micro-abscessos difusos em 6 e abscesso de lobo frontal em 1. Quase todos os casos em ambos os grupos apresentaram complicações clínicas, isoladas ou associadas, potencialmente danosas para o cérebro, como parada cardíaca, baixo débito cardíaco, hipoxemia e insuficiência respiratória. Foi impossível determinar, em cada caso, a magnitude do fator ou fatores responsáveis pelo padrão neuropatológico correspondente. Não houve diferenças do padrão neuropatológico entre as cardiopatias com hiper ou hipofluxo pulmonar.

  12. 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.

  13. 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.

  14. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

    Science.gov (United States)

    Ballew, Bari J; Yeager, Meredith; Jacobs, Kevin; Giri, Neelam; Boland, Joseph; Burdett, Laurie; Alter, Blanche P; Savage, Sharon A

    2013-04-01

    Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere biology. The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation. Germline mutations in telomere biology genes account for approximately one-half of known DC families. Using exome sequencing, we identified mutations in RTEL1, a helicase with critical telomeric functions, in two families with HH. In the first family, two siblings with HH and very short telomeres inherited a premature stop codon from their mother who has short telomeres. The proband from the second family has HH and inherited a premature stop codon in RTEL1 from his father and a missense mutation from his mother, who also has short telomeres. In addition, inheritance of only the missense mutation led to very short telomeres in the proband's brother. Targeted sequencing identified a different RTEL1 missense mutation in one additional DC proband who has bone marrow failure and short telomeres. Both missense mutations affect the helicase domain of RTEL1, and three in silico prediction algorithms suggest that they are likely deleterious. The nonsense mutations both cause truncation of the RTEL1 protein, resulting in loss of the PIP box; this may abrogate an important protein-protein interaction. These findings implicate a new telomere biology gene, RTEL1, in the etiology of DC.

  15. Cotidiano da gravidez de risco por cardiopatia: estudo fenomenológico das relações assistenciais

    Directory of Open Access Journals (Sweden)

    Thaís Vasconselos Amorim

    Full Text Available RESUMO Objetivo: Desvelar o cotidiano das relações assistenciais do ser-aí-mulher na gravidez de alto risco por doença cardíaca. Métodos: Pesquisa qualitativa fenomenológica. Dezessete participantes foram entrevistadas em instituição referência para risco materno e os significados expressos foram analisados à luz do pensamento de Martin Heidegger. Resultados: As mulheres significaram terem sido cobradas pelos médicos por engravidarem e; saberem que o cardiologista dá o parecer, mas o obstetra é quem vai decidir a via de parto. Conclusão: Evidenciaram-se relações assistenciais pautadas na ótica fisiopatológica de acompanhamento gestacional e invisibilidade da equipe de enfermagem junto à gestante. Se por um lado os resultados apontam a necessidade de transcender para uma relação existencial que considera a mulher como ser-aí dotada de possibilidades, por outro anuncia a importância do cuidado de enfermagem congruente às necessidades de gestantes portadoras de cardiopatia na perspectiva de se fazer percebido e anunciado pelo ser-cuidado.

  16. 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

  17. Operação de Blalock-Taussig modificada para o tratamento paliativo de cardiopatias congênitas com hipofluxo pulmonar Blalock-Taussig operation for palliative treatment of congenital heart disease with low pulmonary flow

    Directory of Open Access Journals (Sweden)

    Miguel A Maluf

    1995-09-01

    úrgica. A operação de Blalock-Taussig modificada demonstrou ser um método confiável e seguro no tratamento paliativo das cardiopatias com hipofluxo pulmonarFrom January 1990 to November 1994, 72 patients with congenital heart defects and low pulmonary flow underwent modified Blalock-Taussig produce. There were 44 (61.1% males and 28 (38.8% females with ages ranging from 2 days to 11 years (average 9 months. Thirty eight (52,8% patients had Tetralogy of Fallot; 7 (9,7% had pulmonary atresia with intact ventricular septum (PA/IVS; 6 (8.4%, had transposition of the great arteries (TGA with pulmonary stenosis (PS; 6 (8,4% had tricuspid atresia (TA with PS; 6 (8.4% had double inlet of right ventricle (RV or left ventricle (LV and PS; 3 (4.2% had corrected transposition of the great arteries (CTGA with ventricular septal defects (VSD and PS; 2 (2.7% had double outlet of RV or LV and PS; 2 (2.7% had atrio-ventricular canal defects (A-VC and PS; 2 (2.7% patients had right or left Isomerism and PS. The decision to surgical indication was based on: a new borns with "ductus dependent" heart defects; b lactents with important cianosis or hypoxia; c infants with heart defects without possibilities of biventricular correction. The surgical technique employed was the Blalock-Taussig operation using 4 or 5 mm Polytetrafluoroethy (PTFE prosthesis in 69 (94.5% cases, umbilical vein in 3 (4.1% cases and bovine thoracic artery in 1 (1.4% case. Before the arteries were clamped 1 mg/kg of héparine was given without mobilization, with protamine, after the procedure. During the post-operative period, anticoagulants were not given. The prosthesis obstruction was the main cause of death and was related to artery anatomy: subclavian and pulmonary artery diameter and/or problems with the technique. The modified Blalock-Taussig operation showed itself to be a reliable palliative treatment to heart defects with low pulmonary flow

  18. Rastreamento e diagnóstico ecocardiográfico das arritmias e cardiopatias congênitas fetais Screening and echocardiographic diagnosis of arrhythmias and congenital heart diseases in the fetus

    Directory of Open Access Journals (Sweden)

    Sandra Regina Marques Carvalho

    2006-05-01

    Full Text Available OBJETIVO: analisar os resultados obtidos em programa de rastreamento e diagnóstico de arritmias e cardiopatias congênitas centrado em uma unidade terciária e determinar a importância do diagnóstico precoce na evolução fetal e neonatal. MÉTODOS: foram analisados os resultados da avaliação cardíaca fetal efetuada em 1159 gestantes em dois níveis diferentes. Nível I: uso da ultra-sonografia morfológica com o objetivo de rastrear a presença de alteração cardíaca, sem estabelecer um diagnóstico diferencial. Nível II: por ecocardiograma fetal com o objetivo de diagnosticar as cardiopatias fetais existentes. Os resultados da detecção de arritmias bem como da avaliação das alterações estruturais foram comparados, sendo estabelecidas a sensibilidade e a especificidade para ambos os níveis no pré-natal, ao exame pós-natal ou à necropsia. A concordância entre ambos os níveis foi calculada pelo índice kappa. RESULTADOS: as arritmias detectadas no nível I foram confirmadas em todos os casos e não houve falso-negativos, sendo que em cinco pacientes houve necessidade de tratamento intra-útero. A detecção das alterações estruturais obtidas no nível I teve sensibilidade de 72% e especificidade de 98%, com 28% de falso-positivos. No nível II estes parâmetros foram, respectivamente, de 100 e 99%. De acordo com o coeficiente kappa de 57%, um grau de concordância de categoria moderada foi observado entre ambos os níveis. Das cardiopatias congênitas da nossa série 51% necessitaram intervenção farmacológica ou invasiva no período neonatal. CONCLUSÃO: o estudo ultra-sonográfico obstétrico é fundamental no rastreamento das alterações cardíacas fetais. O ecocardiograma fetal apresentou alto índice de sensibilidade e especificidade no diagnóstico das arritmias e cardiopatias congênitas, possibilitando o tratamento precoce das alterações graves.PURPOSE: to analyze the results of a screening and diagnostic

  19. 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

  20. Perfil de adolescentes e adultos portadores de cardiopatia congênita atendidos em ambulatório da especialidade no Conjunto Hospitalar de Sorocaba

    Directory of Open Access Journals (Sweden)

    Jéssica Vasques Rodrigues Almenara

    2014-10-01

    Full Text Available Introdução: Adolescentes e adultos portadores de cardiopatias congênitas têm hoje expectativa de vida crescente em todo o mundo, graças aos avanços da medicina no que diz respeito a novas técnicas cirúrgicas ou métodos para diagnóstico precoce; Objetivos: Caracterizar o perfil de adolescentes e adultos portadores de cardiopatias congênitas atendidos no ambulatório de Cardiologia Pediátrica do CHS, por período de 10 meses, e estimular criação de ambulatório para seu atendimento especializado; Metodologia: Preenchimento, pelo pesquisador, de uma Ficha Clínica elaborada de acordo com itens considerados essenciais para descrição do perfil dos pacientes, durante entrevistas realizadas nos atendimentos, mediante assinatura do Termo de Consentimento pelo sujeito de pesquisa, e posteriormente, através de consulta aos prontuários. Resultados: Através de estatística descritiva, foram caracterizados perfis de 76 pacientes, com idades de 12 a 57 anos, média de 17 e mediana de 15. As cardiopatias mais frequentes foram comunicação interventricular (22,4% e estenose aórtica (17,1%. Concomitantemente, 76,3% dos entrevistados não apresentavam sintomas. Os pacientes foram agrupados de acordo com a classificação funcional N.Y.H.A, tendo predominado os da classe I (80,3%, e também categorizados quanto ao quadro evolutivo. Conclusões: A criação ambulatórios especializados para atender essa população pode proporcionar melhor prognóstico e tratamento, controle dos sintomas e melhora na qualidade de vida.

  1. 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.

  2. Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita

    Directory of Open Access Journals (Sweden)

    Rosana Cardoso Manique Rosa

    Full Text Available FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC, trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (USA, comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009, com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034. No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal.

  3. 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

    Osteopathia striata congenita with cranial sclerosis (OSCS) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the X-linked gene WTX (FAM123B, AMER1). Females present with longitudinal striations of sclerotic bone along the long axis of long bones and cranial...... 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...... neighbouring loci may result in abnormal neurodevelopment. In this cohort of 13 females with OSCS resulting from deletions of WTX, a relationship is observed where deletion of ARHGEF9 and/or MTMR8 in conjunction with WTX results in an additional neurodevelopmental phenotype whereas deletion of ASB12 along...

  4. 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

    via p53. Together, this evidence suggests that ROS may be causative towards establishing a senescent state in a short-telomere background. Little ...attrition facilitates entry into senescence. Keywords (limit to 20 words ) Dyskeratosis congenita, bone marrow failure, aging, telomere...Results Dissemination Data from this project has been presented publicly at the American Society of Hematology (ASH) in December of 2015 as a poster

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

    OpenAIRE

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

    2015-01-01

    Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by the presence of short telomeres at presentation. Mutations in ten different genes, whose products are involved in the telomere maintenance pathway, have been shown to cause DC. The X-linked form is the most common form of the disease and is caused by mutations in the gene DKC1, encoding the protein dyskerin. Dyskerin is required for the assembly and stability of telomerase and is also involved in ribosom...

  6. Avaliação da deglutição em lactentes com cardiopatia congênita e síndrome de Down: estudo de casos

    OpenAIRE

    Fraga, Deborah Fick Böhm; Pereira, Karine da Rosa; Dornelles, Sílvia; Olchik, Maira Rosenfeld; Levy, Deborah Salle

    2015-01-01

    O presente estudo teve por objetivo realizar avaliação fonoaudiológica da deglutição em lactentes com diagnóstico de síndrome de Down e cardiopatia congênita (DSAV tipo A de Rastelli) internados na unidade 2A e Unidade de Tratamento Intensivo Pediátrica da instituição de origem, com suspeita de dificuldade de deglutição, encaminhados ao serviço de fonoaudiologia. Trata-se de uma pesquisa de caráter descritivo-qualitativo, nessa foi possível avaliar dois lactentes durante o período de janeiro ...

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

    Directory of Open Access Journals (Sweden)

    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.

  8. eNOS se correlaciona com a biogênese mitocondrial em corações com cardiopatia congênita e cianose

    Directory of Open Access Journals (Sweden)

    Juan Xiao

    2012-09-01

    Full Text Available FUNDAMENTO: O programa de biogênese mitocondrial no coração parece apresentar remodelação adaptativa após estresse biomecânico e oxidativo. Os mecanismos adaptativos que protegem o metabolismo do miocárdio durante a hipóxia são coordenados, em parte, pelo óxido nítrico (NO. OBJETIVO: Observar a biogênese mitocondrial e expressão do óxido nítrico sintase (NOS em corações de cardiopatia congênita com cianose; discutir a resposta mitocondrial à hipóxia crônica do miocárdio. MÉTODOS: Foram investigados 20 pacientes com defeitos cardíacos cianóticos (n = 10 ou acianóticos (n = 10. Foram estudadas amostras do miocárdio na via de saída ventricular direita, tomadas durante a operação. A análise morfométrica de mitocôndrias foi realizada por microscopia eletrônica de transmissão. A relação mtDNA/nDNA foi determinada com PCR em tempo real. Os níveis de transcrição da subunidade I da citocromo c oxidase (COXI, coativador-1α do receptor γ ativado por proliferador de peroxissoma (PGC-1α, o fator respiratório nuclear 1 (NRF1, e fator de transcrição mitocondrial A (Tfam foram detectados por reação em cadeia da polimerase via transcriptase reversa (RT-PCR ativado por fluorescência em tempo real. Os níveis proteicos de COXI e nNOS, iNOS e eNOS foram medidos por técnica de Western Blot. RESULTADOS: A densidade volumétrica mitocondrial (Vv e a densidade numérica (Nv foram significativamente elevadas em pacientes com cianose, em comparação com a cardiopatia congênita acianótica. MtDNA elevada e suprarregulação dos níveis de COXI, PGC-1 α, NRF1 e Tfam mRNA foram observadas em pacientes cianóticos. Os níveis de proteína de COXI e eNOS foram significativamente maiores no miocárdio de pacientes cianóticos que nos de acianóticos. Os níveis de transcrição do PGC-1α se correlacionam com os níveis de eNOS. CONCLUSÃO: A biogênese mitocondrial é ativada no miocárdio da via de saída ventricular na

  9. TOLERÂNCIA AO EXERCÍCIO, FUNÇÃO PULMONAR, FORÇA MUSCULAR RESPIRATÓRIA E QUALIDADE DE VIDA EM CRIANÇAS E ADOLESCENTES COM CARDIOPATIA REUMÁTICA

    Directory of Open Access Journals (Sweden)

    Andressa Lais Salvador de Melo

    2018-03-01

    Full Text Available RESUMO Objetivo: Apesar da alta prevalência de cardiopatia reumática no nosso país, a ocorrência de prejuízos funcionais em crianças e adolescentes com cardiopatia reumática não está esclarecida. Este estudo visou avaliar tolerância ao exercício, força muscular respiratória, função pulmonar e qualidade de vida de crianças e adolescentes com cardiopatia reumática. Métodos: Estudo transversal, realizado de agosto a dezembro de 2014, com portadores de cardiopatia reumática de 8 a 16 anos de idade. Os participantes, após preenchimento dos questionários socioeconômico, clínico e de qualidade de vida, foram submetidos a espirometria, manovacuometria e teste de caminhada de seis minutos. As variáveis e seus valores de referência foram comparados pelo teste t de Student pareado. Para comparar as diferenças entre as distâncias percorridas prevista e observada, considerando-se as categorizações dos participantes, foi utilizado o teste t de Student. Correlações entre essas diferenças e as variáveis quantitativas foram feitas pelo coeficiente de Pearson, sendo significante p<0,05. Resultados: Os 56 participantes obtiveram distância percorrida inferior à prevista (p<0,001. As diferenças entre as distâncias prevista e observada mostraram correlação positiva com a frequência cardíaca basal (r=0,3545; p=0,007. A força muscular expiratória também foi inferior à prevista (p<0,001. A qualidade de vida foi de 70; 77 e 67%, respectivamente, nos domínios geral, físico e psicossocial. Conclusões: Crianças e adolescentes com cardiopatia reumática apresentam tolerância reduzida ao exercício, a qual está relacionada com uma maior frequência cardíaca basal; eles também demonstram prejuízo na força expiratória e na qualidade de vida.

  10. Avaliação do tratamento cirúrgico da cardiopatia congênita em pacientes com idade superior a 16 anos

    Directory of Open Access Journals (Sweden)

    Luiz Fernando Caneo

    2012-05-01

    Full Text Available FUNDAMENTO: O número crescente de crianças com cardiopatias congênitas em evolução demanda maior preparo dos profissionais e das instituições que as manuseiam. OBJETIVO: Descrever o perfil dos pacientes com idade superior a 16 anos com cardiopatia congênita operados e analisar os fatores de risco preditivos de mortalidade hospitalar. MÉTODOS: Mil, quinhentos e vinte pacientes (idade média 27 ± 13 anos foram operados entre janeiro de 1986 e dezembro de 2010. Foram realizadas análise descritiva do perfil epidemiológico da população estudada e análise dos fatores de risco para mortalidade hospitalar, considerando escore de complexidade, ano em que a cirurgia foi realizada, procedimento realizado pelo cirurgião pediátrico ou não e presença de reoperação. RESULTADOS: Ocorreu um crescimento expressivo no número de casos a partir do ano 2000. A média do escore de complexidade foi 5,4 e os defeitos septais corresponderam a 45% dos casos. A mortalidade geral foi 7,7% e o maior número de procedimentos (973 ou 61,9% com maior complexidade foi realizado por cirurgiões pediátricos. Complexidade (OR 1,5, reoperação (OR 2,17 e cirurgião pediátrico (OR 0,28 foram fatores de risco independentes que influenciaram a mortalidade. A análise multivariada mostrou que o ano em que a cirurgia foi realizada (OR 1,03, a complexidade (OR 1,44 e o cirurgião pediátrico (OR 0,28 influenciaram no resultado. CONCLUSÃO: Observa-se um número crescente de pacientes com idade superior a 16 anos e que, apesar do grande número de casos simples, os mais complexos foram encaminhados para os cirurgiões pediátricos, que apresentaram menor mortalidade, em especial nos anos mais recentes. (Arq Bras Cardiol. 2012; [online].ahead print, PP.0-0

  11. Registros de cardiopatia congênita em crianças menores de um ano nos sistemas de informações sobre nascimento, internação e óbito do estado do Rio de Janeiro, 2006-2010

    Directory of Open Access Journals (Sweden)

    Camilla Ferreira Catarino

    Full Text Available Resumo OBJETIVO: descrever a ocorrência de casos de cardiopatia congênita em menores de um ano de vida registrados nos sistemas de informações em saúde do estado do Rio de Janeiro no período de 2006 a 2010. MÉTODOS: estudo descritivo, com dados do Sistema de Informações sobre Nascidos Vivos (Sinasc, Sistema de Informações Hospitalares do Sistema Único de Saúde (SIH/SUS e Sistema de Informações sobre Mortalidade (SIM. RESULTADOS: foram encontrados 345 registros no Sinasc, 1.089 crianças internadas (SIH/SUS e 1.121 óbitos de menores de um ano tendo como causa básica cardiopatia congênita (SIM; a prevalência de cardiopatias congênitas foi de 3,18/10 mil nascidos vivos; as cardiopatias foram as principais causas de óbito no grupo das malformações congênitas, com coeficiente de mortalidade de 1,03/1.000 nascidos vivos. CONCLUSÃO: houve sub-registro de casos de cardiopatia congênita no Sinasc, demonstrando a dificuldade do diagnóstico precoce.

  12. Parâmetros Ecocardiográficos e Sobrevida na Cardiopatia Chagásica com Disfunção Sistólica Importante

    Directory of Open Access Journals (Sweden)

    Daniela do Carmo Rassi

    2014-04-01

    Full Text Available Fundamento: O ecocardiograma fornece dados importantes na avaliação cardiológica de pacientes em insuficiência cardíaca. A identificação de parâmetros ecocardiográficos na cardiopatia chagásica grave auxiliaria na implementação terapêutica e na avaliação prognóstica. Objetivo: Correlacionar parâmetros ecocardiográficos com desfecho mortalidade cardiovascular em pacientes com fração de ejeção 70,71 mL/m2 foi associado ao aumento significativo na mortalidade (log rank p < 0,0001. Conclusão: O volume indexado do átrio esquerdo mostrou-se como único fator de predição independente de mortalidade nesta população de pacientes chagásicos e com disfunção sistólica importante.

  13. 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.

  14. O conduto valvulado bovino contegra, um biomaterial para o tratamento cirúrgico de cardiopatias congênitas The contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2012-01-01

    Full Text Available O Contegra, um enxerto de veia jugular bovina, tem sido amplamente utilizado como biomaterial de preferência no tratamento cirúrgico das cardiopatias congênitas, especialmente como um conduto para a reconstrução da via de saída ventricular direita. Este artigo tem como objetivo fazer uma revisão abrangente sobre os desfechos clínicos do Contegra. Foram recuperados, coletados e analisados, relatos de Contegra publicados desde 2002. Havia 1.718 Contegra, aplicados em 1.705 pacientes. Os tamanhos dos condutos foram de 8-22 mm. As idades dos pacientes foram de recém-nascidos até 74,5 anos, com prevalência de pacientes pediátricos. O diagnóstico primário foi cardiopatia congênita em todos os casos, sendo os três diagnósticos principais: tetralogia de Fallot, tronco arterioso e atresia pulmonar, que representaram 25,6%, 16,7% e 13,1%, respectivamente. O Contegra foi utilizado como enxerto tubular na posição pulmonar em 1635 (95,9% pacientes, como remendo monocúspide em 12 (0,7%, como enxerto na posição da valva pulmonar ou monocúspide em 40 (2,3%, e, como conduto artéria pulmonar-veia cava inferior na operação de Fontan, em 18 (1,1% pacientes, respectivamente. O reimplante de conduto foi realizado em 141 (8,3% pacientes, 33,8 ± 37 (8,6-106,8 meses após a inserção do conduto inicial. A plástica do conduto foi necessária em seis (0,4% e a reintervenção em 83 (4,9% dos pacientes. As indicações do reimplante do conduto incluíram estenose importante da anastomose distal, pseudoaneurisma da anastomose proximal e regurgitação importante do conduto. Quanto ao bom desempenho, disponibilidade e longevidade, o Contegra é um biomaterial adequado para a reconstrução da via de saída ventricular direita e como remendo para reparo de comunicação interventricular, mas não é apto para a operação de Fontan.Contegra, a bovine jugular vein graft, has been widely used as a preferable biomaterial in the surgical treatment of

  15. O conduto valvulado bovino contegra, um biomaterial para o tratamento cirúrgico de cardiopatias congênitas The contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2012-12-01

    Full Text Available O Contegra, um enxerto de veia jugular bovina, tem sido amplamente utilizado como biomaterial de preferência no tratamento cirúrgico das cardiopatias congênitas, especialmente como um conduto para a reconstrução da via de saída ventricular direita. Este artigo tem como objetivo fazer uma revisão abrangente sobre os desfechos clínicos do Contegra. Foram recuperados, coletados e analisados, relatos de Contegra publicados desde 2002. Havia 1.718 Contegra, aplicados em 1.705 pacientes. Os tamanhos dos condutos foram de 8-22 mm. As idades dos pacientes foram de recém-nascidos até 74,5 anos, com prevalência de pacientes pediátricos. O diagnóstico primário foi cardiopatia congênita em todos os casos, sendo os três diagnósticos principais: tetralogia de Fallot, tronco arterioso e atresia pulmonar, que representaram 25,6%, 16,7% e 13,1%, respectivamente. O Contegra foi utilizado como enxerto tubular na posição pulmonar em 1635 (95,9% pacientes, como remendo monocúspide em 12 (0,7%, como enxerto na posição da valva pulmonar ou monocúspide em 40 (2,3%, e, como conduto artéria pulmonar-veia cava inferior na operação de Fontan, em 18 (1,1% pacientes, respectivamente. O reimplante de conduto foi realizado em 141 (8,3% pacientes, 33,8 ± 37 (8,6-106,8 meses após a inserção do conduto inicial. A plástica do conduto foi necessária em seis (0,4% e a reintervenção em 83 (4,9% dos pacientes. As indicações do reimplante do conduto incluíram estenose importante da anastomose distal, pseudoaneurisma da anastomose proximal e regurgitação importante do conduto. Quanto ao bom desempenho, disponibilidade e longevidade, o Contegra é um biomaterial adequado para a reconstrução da via de saída ventricular direita e como remendo para reparo de comunicação interventricular, mas não é apto para a operação de Fontan.Contegra, a bovine jugular vein graft, has been widely used as a preferable biomaterial in the surgical treatment of

  16. Realce Tardio miocárdico por Ressonância Magnética Cardíaca pode identificar risco para Taquicardia Ventricular na Cardiopatia Chagásica Crônica

    OpenAIRE

    Ronaldo Peixoto de Mello; Gilberto Szarf; Paulo Roberto Schvartzman; Edson Minoru Nakano; Mariano Martinez Espinosa; Denis Szejnfeld; Verônica Fernandes; João A. C. Lima; Claudio Cirenza; Angelo A.V. De Paola

    2012-01-01

    FUNDAMENTO: Testes invasivos e não invasivos têm sido usados para identificar risco para Taquicardia Ventricular (TV) em pacientes com Cardiopatia Chagásica Crônica (CCC). Ressonância Magnética Cardíaca (RMC) pela técnica do Realce Tardio (RT) pode ser útil para selecionar pacientes com disfunção ventricular global ou segmentar, com alto grau de fibrose e maior risco para TV clínica. OBJETIVO: Melhorar a identificação de elementos preditivos de TV em pacientes com CCC. MÉTODO: Quarenta e um p...

  17. O carvedilol potencializa o efeito antioxidante das vitaminas E e C na cardiopatia chagásica crônica

    Directory of Open Access Journals (Sweden)

    Patrícia Budni

    2013-10-01

    Full Text Available FUNDAMENTO: A doença de Chagas continua a ser uma importante doença endêmica no país, sendo o acometimento cardíaco a sua manifestação mais grave. OBJETIVO: Verificar se o uso concomitante de carvedilol potencializará o efeito antioxidante das vitaminas E e C na atenuação do estresse oxidativo sistêmico na cardiopatia chagásica crônica. MÉTODOS: Foram estudados 42 pacientes com cardiopatia chagásica, agrupados de acordo com a classificação modificada de Los Andes, em quatro grupos: 10 pacientes no grupo IA (eletrocardiograma e ecocardiograma normais: sem envolvimento do coração, 20 pacientes do grupo IB (eletrocardiograma normal e ecocardiograma anormal: ligeiro envolvimento cardíaco, oito pacientes no grupo II (eletrocardiograma e ecocardiograma anormais, sem insuficiência cardíaca: moderado envolvimento cardíaco e quatro pacientes no grupo III (eletrocardiograma e ecocardiograma anormais com insuficiência cardíaca: grave envolvimento cardíaco. Os marcadores de estresse oxidativo foram medidos no sangue, antes e após um período de seis meses de tratamento com carvedilol e após seis meses de terapia combinada com vitaminas E e C. Os marcadores foram: atividades da superóxido dismutase, catalase, glutationa peroxidase, glutationa S-transferase e redutase, mieloperoxidase e adenosina deaminase, e os níveis de glutationa reduzida, de espécies reativas do ácido tiobarbitúrico, proteína carbonilada, vitamina E e óxido nítrico. RESULTADOS: Após o tratamento com carvedilol, todos os grupos apresentaram diminuições significativas dos níveis de proteína carbonilada e glutationa reduzida, enquanto os níveis de óxido nítrico e atividade da adenosina aumentaram significativamente apenas no grupo menos acometido (IA. Além disso, a maioria das enzimas antioxidantes mostrou atividades diminuídas nos grupos menos acometidos (IA e IB. Com a adição das vitaminas ao carvedilol houve diminuição dos danos em prote

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

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    Mario Zaidenberg

    1993-02-01

    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

  19. Estudo pareado da cardiopatia chagásica no Rio Grande do Sul, Brasil Matched study of Chagas' cardiopathy in Rio Grande do Sul, Brazil

    Directory of Open Access Journals (Sweden)

    Giovanni Baruffa

    1985-12-01

    Full Text Available São estudados 666 pares de indivíduos, sendo 344 masculinos e 322 femininos, com sorologia positiva/negativa para doença de Chagas, obtidos em inquérito sorológico-eletrocardiográfico entre populações rurais não selecionadas de 17 municípios do sul Rio Grande do Sul, Brasil. Na análise dos eletrocardiogramas foram consideradas só as alterações sugestivas de cardiopatia chagásica: bloqueio átrio-ventricular de 1º, e 2º e 3º, BCRD isolado ou associado ao HBAE, HBAE isolado, extrasístoles ventriculares freqüentes e/ou polifocais e/ou bigeminadas e trigeminadas; alterações de ST e T; zonas eletricamente inativas. Com este critério apresentaram eletrocardiogramas alterados 201 pessoas soropositivas (30,2% e 66 soronegativas (9,9%. O gradiente de 20,3%, sendo 21,5% nos homens e 18,9% nas mulheres, mostrou-se significativo ao nível de p A study of 666 matched pairs (344 males and 322 females with positive/negative complement fixation test for Chagas' disease is reported. The pairs were obtained at random by a serological and eletrocardiographical study among rural people of an endemic area in Southern Rio Grande do Sul, Brazil (17 municipalities. Besides non specific ECG alterations, the following abnormalities suggestive of Chagas' aetiology were found: atrio-ventricular complete or incomplete block; right bundle branch block either isolated or in association with left hemiblock; frequent and/or polyfocal and/or bigeminated or trigeminated premature beats; abnormalities in ST and T; eletrically inactive areas. According to these criteria 201 seropositive (30.2% and 66 seronegative (9.9% individuals showed abnormal ECG signs. The 20.3% gradient, (21.5% in male and 18.9% in female pairs, of the matched pairs was significant at p < 0,001 level. According to these results, a significant prevalence of eletrocardiografical abnormalities suggesting chagastic cardiomiopathy occurs in seropositive individuals.

  20. Gastrostomia endoscópica em pacientes com cardiopatia complicada Percutaneous endoscopic gastrostomy in cardiologic complicated patients

    Directory of Open Access Journals (Sweden)

    Celso CUKIER

    2000-10-01

    was the main indication of percutaneous endoscopic gastrostomy and occurred after 35,58 ± 26,79 days, after iniciated enteral nutrition. There were no complications during procedure. On late post operatory period there were local infection in one cases, treated with local care. In conclusion, percutaneous endoscopic gastrostomy is a secure technique with low incidence of complications and its indication should be earlier.

  1. Adultos com cardiopatia congênita submetidos à primeira cirurgia: prevalência e resultados em um hospital terciário Adults with congenital heart disease undergoing first surgery: prevalence and outcomes at a tertiary hospital

    Directory of Open Access Journals (Sweden)

    Gustavo Alves de Mello

    2012-12-01

    Full Text Available INTRODUÇÃO: O tratamento cirúrgico da cardiopatia congênita em adultos apresentou importante crescimento nos últimos anos. Contudo, ainda assim, o número de pacientes que atingem a idade adulta sem tratamento cirúrgico adequado permanece elevado. OBJETIVO: Avaliar os resultados hospitalares e diagnósticos dos pacientes adultos com cardiopatia congênita submetidos à primeira operação. MÉTODOS: Estudo retrospectivo, que analisou prontuários de pacientes operados para correção de cardiopatia congênita com idade maior ou igual a 18 anos. O critério de exclusão foi cirurgia para reoperação. Foi analisado o período entre dezembro de 2007 e dezembro de 2010, com inclusão de 79 pacientes. RESULTADOS: Os defeitos do septo atrial foram os mais prevalentes (53,1%, seguidos de comunicação interventricular (15,2%, coarctação da aorta (6,3% e canal atrioventricular parcial (6,3%. Treze (16,4% pacientes apresentavam doença associada adquirida e 14 pacientes (17,7%, congênita. Trinta e três (41,8% pacientes apresentavam hipertensão pulmonar. O tempo médio de internamento em UTI e hospitalar foi de 3,9 e 14,5 dias, respectivamente. Complicações ocorreram em 18 (22,8% pacientes, sendo as infecciosas as mais comuns. A mortalidade hospitalar foi de dois (2,5% pacientes. CONCLUSÃO: O tratamento da cardiopatia congênita em adultos como primeira cirurgia apresentou resultado bastante favorável. Contudo, em nossa série, houve maior tempo de internamento em UTI e hospitalar.INTRODUCTION: Surgical treatment of congenital heart disease in adults showed a significant growth in recent years. But even so, the number of patients who reach adulthood without adequate surgical treatment remains high. OBJECTIVE: To demonstrate the results and hospital diagnoses of adult patients with congenital heart disease underwent the first surgery. METHODS: A retrospective analysis of records of patients operated for correction of congenital heart

  2. Variabilidade entre cardiologistas na abordagem aos pacientes em prevenção secundária da cardiopatia isquêmica Variability among cardiologists in the management of patients under secondary prevention of ischemic heart disease

    Directory of Open Access Journals (Sweden)

    Ricardo Stein

    2004-09-01

    Full Text Available OBJETIVO: Comparar o manejo dos pacientes com cardiopatia isquêmica, atendidos por cardiologistas em ambulatório geral de cardiologia, com aquele realizado em ambulatório específico de cardiopatia isquêmica, dando ênfase à solicitação do perfil lipídico e ao tratamento farmacológico prescrito. MÉTODOS: Dados obtidos de prontuário médico de 52 pacientes consecutivos atendidos no ambulatório de cardiopatia isquêmica (grupo I e de 43 acompanhados no ambulatório de cardiologia geral (grupo II, sendo o diagnóstico anatômico de cardiopatia isquêmica, condição básica para sua inclusão. Considerou-se critério para dislipidemia, colesterol total > 200mg/dl e/ou LDL colesterol > 100 mg/dl em pacientes em uso ou não de hipolipemiantes e o uso de drogas hipolipemiantes, mesmo quando os níveis de colesterol total e/ou LDL colesterol eram OBECTIVE: To compare the management of patients with ischemic heart disease being followed up in a general cardiology outpatient clinic with that of patients being followed up in an outpatient clinic specific for ischemic heart disease, emphasizing the lipid profile and the pharmacological treatment prescribed. METHODS: Data were collected from the medical records of 52 patients consecutively treated in the outpatient clinic for ischemic heart disease (group I and of 43 patients treated in the general cardiology outpatient clinic (group II, the anatomical diagnosis of ischemic heart disease being the basic condition for their inclusion in the study. The criteria for dyslipidemia were as follows: total cholesterol > 200 mg/dL or LDL-cholesterol > 100 mg/dL, or both, in patients using or not lipid-lowering drugs, and the use of lipid-lowering drugs, even when the total cholesterol or LDL-cholesterol levels were < 200 mg/dL and 100 mg/dL, respectively, or both. The Fisher exact test was used for comparing the variables, and a 2-tailed p < 0.05 was accepted as significant. RESULTS: Demographic

  3. Novo sistema de cardioplegia sangüínea em cirurgia de cardiopatia congênita New delivery system for pediatric blood cardioplegia

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    Pedro R Salerno

    1995-09-01

    Full Text Available O objetivo do presente estudo é apresentar um sistema de cardioplegia sangüínea para cirurgia de cardiopatia congênita. Foram analisados, prospectivamente, 71 pacientes com 10.12 kg em média, 34 eram do sexo feminino e a idade média foi de 2,1 anos. Da linha arterial, passando por um trocador de calor, aspiramos para uma seringa de 50 cc sangue a 8ºc, a qual é conectada a outra seringa de 10 cc com uma solução decimal de potássio, através de duas torneirinhas. A mistura da solução decimal (3 ml com 47 ml de sangue a 8o C origina uma solução de sangue com 15 meq/1 de potássio. Esta solução é infundida na raiz da aorta, de acordo com o peso do paciente (10 cc/kg. Em todos obtivemos parada cardioplégica. O tempo médio de extracorpórea foi de 87,2 minutos e de pinçamento aórtico, de 60,7 minutos. Treze pacientes evoluíram para óbito, 6 por falência miocárdica, 3 por síndrome de baixo débito, 2 com arritmia, 1 com falência renal e 1 com coagulopatia. Os 58 demais pacientes receberam alta hospitalar sem complicações. Em conclusão, este método mostrou ser eficiente na preservação miocárdica e com baixa morbi-mortalidadeThe purpose of this study is to present a simple Delivery System of Blood Cardioplegia for myocardial preservation during congenital cardiac operation. We prospectively analysed 71 patients (pts with 10/12 kg of body mean weight, 34 were female and mean age was 2/1 years. From the arterial line, passing through a mini heat exchanger, blood at 8 C is aspirated to a 50 cc syringe, which is conected to a 10 cc syringe with a KCL + decimal solución using 2 stopcocks. The mixture originates a cold blood with 15 mEq/l of KCL + that is infused into the aortic root, according to the pts weight (10 cc/kg. In all pts cardiac arrest was obtained. The mean extracorporeal circulation time and crossclamping was 87.2 and 60.7 min. All pts recovered sinus rhythm with good ventricular function. Thirteen patients

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

    Science.gov (United States)

    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

    2017-04-06

    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 identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. Immunolabeling experiments and transmission electron microscopy of the sciatic nerve from one of the affected individuals revealed a lack of myelin. Functional tests using affected individual-derived iPSCs showed that these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell-based assay impaired the secretion of truncated LGI4 protein. This is consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral hypomyelination. This study adds to the recent reports implicating defective axoglial function as a key cause of AMC. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  5. The neuroradiological findings in a case of Revesz syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-11-15

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

  6. The neuroradiological findings in a case of Revesz syndrome

    International Nuclear Information System (INIS)

    Scheinfeld, Meir H.; Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A.; Kolb, Edward A.; Engel, Harry M.; Weidenheim, Karen M.

    2007-01-01

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

  7. Síndrome de deleção 22q11 e cardiopatias congênitas complexas 22q11.2 deletion syndrome and complex congenital heart defects

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2011-02-01

    Full Text Available OBJETIVO: Verificar a frequência da síndrome de deleção 22q11 (SD22q11 entre pacientes portadores de cardiopatia congênita do tipo complexa. MÉTODOS: A amostra foi constituída por uma coorte prospectiva e consecutiva de pacientes com cardiopatia complexa em sua primeira hospitalização em uma unidade de tratamento intensivo cardiológica de um hospital pediátrico. Para cada paciente foi preenchida uma ficha de avaliação, com coleta de dados clínicos, e realizado o cariótipo de alta resolução e técnica de hibridização in situ fluorescente (FISH com pesquisa de microdeleção 22q11. Os defeitos cardíacos foram classificados por um cardiologista participante do estudo. RESULTADOS: A amostra foi composta de 66 pacientes. Quanto à análise cariotípica, alterações foram observadas em cinco pacientes (7,6%; contudo, nenhum deles apresentava deleção 22q11. A avaliação pela técnica de FISH pôde ser realizada com sucesso em 65 pacientes, sendo que a microdeleção 22q11 foi identificada em dois (3,1%. Dos 66 pacientes com defeitos complexos, 52 eram portadores de malformações do tipo conotruncal, sendo que em 51 a pesquisa para microdeleção 22q11 foi realizada. Os dois pacientes portadores da microdeleção 22q11 fizeram parte deste grupo, representando uma frequência de 3,9%. Eles apresentavam tetralogia de Fallot. CONCLUSÃO: A SD22q11 é uma anormalidade frequente entre pacientes com cardiopatias congênitas complexas e conotruncais. Variações da frequência da SD22q11 entre os estudos parecem estar associadas, principalmente, com a forma adotada para a seleção da amostra e às características da população em análise.OBJECTIVE: Investigate the frequency of 22q11 deletion syndrome among patients with complex congenital heart disease. METHODS: A prospective and consecutive cohort of patients with complex heart defects was evaluated in their first hospitalization at a cardiac intensive care unit of a pediatric

  8. Avaliação do consumo alimentar de crianças de 0 a 24 meses com cardiopatia congênita Assessment of food intake in infants between 0 and 24 months with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Tais Cleto Lopes Vieira

    2007-10-01

    Full Text Available FUNDAMENTO: As crianças com cardiopatia congênita geralmente são desnutridas e apresentam algum grau de comprometimento funcional e/ou estrutural dos orgãos. Existe, ainda, uma deficiência na ingestão de nutrientes, corroborada pelo controle hídrico, que limita o aporte nutricional de alguns cardiopatas. OBJETIVO: Avaliar o consumo alimentar de crianças com cardiopatia congênita internadas na Unidade de Pediatria Cardiológica de hospital-escola público. MÉTODOS: O consumo de alimentos e nutrientes foi calculado pelo consumo alimentar de três dias (método direto de pesagem e o cálculo das calorias e nutrientes foi feito pelo software Virtual Nutri. RESULTADOS: O consumo de calorias/kg peso, de proteínas diárias, de sódio e de vitamina A esteve dentro do recomendado (p BACKGROUND: Children with congenital heart disease are usually malnourished and present some degree of functional and/or structural impairment of organs. There is also deficiency in nutrient intake, due to the control of fluids required by some patients which restrains the nutrient intake of some cardiac children. OBJECTIVE: To assess the food intake of children with congenital heart disease hospitalized in the pediatric heart unit of a "Public Teaching Hospital". METHODS: The intake of food and nutrients was calculated based on the food consumed during three days (direct weighting method and the calories and nutrients were calculated using the Virtual Nutri software. RESULTS: The intake of calories per kilogram of body weight, of daily proteins, sodium and vitamin A was within the recommended levels (p < 0.05. However, the intake of daily calories, fats, fiber, potassium and iron was below the recommended levels (p < 0.05 and the intake of proteins per kilogram, carbohydrates, calcium and vitamin C was above the recommended levels (p < 0.05. CONCLUSION: Children with congenital cardiopathy have inadequate diets, and therefore, need nutritional guidance to foster

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  10. Síndrome brânquio-óculo-facial (BOFS e cardiopatias congênitas Síndrome branquio óculo facial (BOFS y cardiopatías congénitas Branchio-oculo-facial syndrome (BOFS and congenital heart defects

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2009-02-01

    Full Text Available Relatamos aqui o caso de um menino com 43 dias de vida, apresentando síndrome brânquio-óculo-facial (BOFS e cardiopatia congênita. Na avaliação clínica, ele possuía retardo de crescimento, pregas epicânticas, fendas palpebrais pequenas, telecanto, base nasal alargada, fenda labial falsa (pseudocleft, micrognatia, orelhas displásicas e rotadas posteriormente, fendas branquiais, pescoço curto e alado, mamilo extranumerário, hipotonia e reflexos tendinosos profundos diminuídos. A ecocardiografia verificou presença de um defeito do septo atrioventricular completo do tipo A e persistência do canal arterial. Essa descrição fortalece a possibilidade de que defeitos cardíacos congênitos possam fazer parte do espectro de anormalidades observado na BOFS.Relatamos en este estudio el caso de un niño con 43 días de vida, que presentaba síndrome branquio óculo facial (BOFS y cardiopatía congénita. En la evaluación clínica, revelaba retardo de crecimiento, pliegues epicánticos, hendiduras palpebrales pequeñas, telecanto, base nasal ensanchada, hendidura labial falsa (pseudocleft, micrognatia, orejas displásicas y rotadas posteriormente, hendiduras branquiales, cuello corto y alado, pezón extranumerario, hipotonía y reflejos tendinosos profundos diminuidos. La ecocardiografía verificó la presencia de un defecto del septo atrioventricular completo del tipo A y conducto arterial persistente. Dicha descripción fortalece la posibilidad de que defectos cardiacos congénitos puedan forman parte del espectro de anormalidades observado en la BOFS.We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia

  11. O papel da biopsia pulmonar na indicação cirúrgica de cardiopatias congénitas The role of lung biopsy in the decision-making process for congenital heart disease

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    Solange Bordignon

    1992-12-01

    Full Text Available Objetivando relacionar o aspecto morfológico dos vasos pulmonares com os dados clínicos para auxiliar na decisão da cirurgia de cardiopatias congênitas com hipertensão pulmonar severa, em casos previamente avaliados por critérios clínicos, angiográficos e/ou hemodinâmicos, foram realizadas, de 1980 a 1991, no Instituto de Cardiologia do Rio Grande do Sul, 49 biópsias pulmonares. As idades dos pacientes variaram de 5m a 28a6m (média = 7a7m e os diagnósticos foram: CIV (16, PCA (3, CIVe ESubAo (1, PCA e CIV (2, PCA e Cl A (1 DSAV (7, DSAV incompl. e PCA (1, PCA e CoAo (1, Inter Arco Ao com PCA e CIV e/ou ESupraM e Anel SubAo (2, DVSVD com CIV e/ou PCA (6, DVSVE e EP (1, ATe ESubP. (1, TGV (1, TGV corrigida e CIV (1 e truncus arteriosus (5. Houve 3 (6,1 % óbitos no pós-operatório da biopsia. Baseado na classificação de Heath-Edwards, foram para correção cirúrgica 11 pacientes com cardiopatias simples (CIV, PCA, DSAV, cuja mortalidade foi 36,4%. Dez pacientes com cardiopatias complexas (DVSVD, DVSVE, TGV, truncus, inter arco Ao foram para cirurgia, com mortalidade de 30%. A evolução pós-operatória tardia foi favorável em 13 (62% pacientes. Conclui-se que a biopsia pulmonar pode ser útil na indicação cirúrgica das cardiopatias congênitas com hipertensão pulmonar severa e, por envolver riscos, sua utilização deve ser criteriosa. E valiosa para os pacientes que apresentam dúvidas quanto ao grau de doença vascular pulmonar ou quanto à natureza das lesões e o estudo clínico e hemodinâmico não são esclarecedores, ou mesmo quando apontarem para a contra-indicação cirúrgica.Open lung biopsy has been performed in patients with congenital heart disease and severe pulmonary hypertension in order to complement the decision-making process for surgical correction. All patients had clinical, hemodynamic and angiographic evaluation previously and would not be surgical candidates by conventional criteria. The 49 patients

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

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    Bai-Wei Gu

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

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

    Science.gov (United States)

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

    2015-01-01

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

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

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    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.

  15. Tratamento das cardiopatias congênitas em Sergipe: proposta de racionalização dos recursos para melhorar a assistência Heart defects treatment in Sergipe: propose of resources' rationalization to improve care

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    Debora Cristina Fontes Leite

    2012-06-01

    Full Text Available OBJETIVO: Avaliar o tratamento das cardiopatias congênitas realizadas de 2000 a 2009. MÉTODOS: A amostra constituiu-se de todos os pacientes submetidos a correção cirúrgica para cardiopatias congênitas por dez anos em Sergipe, Brasil. Os pacientes foram operados em três hospitais localizados na cidade de Aracaju (SE, Brasil, capital do estado de Sergipe. O estudo foi dividido em dois períodos, definidos pela data do início da centralização das cirurgias. As variáveis coletadas foram: faixa etária, gênero, diagnóstico pós-operatório, destino, tipo de cirurgia e hospital em que foi realizado o procedimento e a classificação RACHS -1. RESULTADOS: No período I, a estimativa do déficit de cirurgia foi de 69%, ocorrendo decréscimo no período II para 55,3%. O diagnóstico pós-operatório mais frequente foi de fechamento de comunicação interventricular (20,5%, fechamento de canal arterial (20,2% e da comunicação interatrial (19%. Houve correlação estatisticamente significativa entre mortalidade esperada pelo RACHS-1 e a observada na amostra. A avaliação do RACHS-1 como fator preditor da mortalidade hospitalar por meio da curva ROC demonstrou área de 0,860 IC 95% 0,818 a 0,902, com P OBJECTIVE: This study aims evaluate the treatment of congenital heart disease conducted from 2000 to 2009. METHODS: The sample consisted of all patients undergoing surgical correction for congenital heart disease for ten years in Sergipe, Brazil. The patients were operated in three hospitals located in the city of Aracaju, capital of the state of Sergipe (Brazil. The study was divided into two periods defined by the start date of centralization of surgery. The variables collected were: age, sex, postoperative diagnosis, destination, type of surgery and hospital where the procedure was performed and the classification RACHS -1. RESULTS: In the period I, the estimate deficit of surgery was 69% decrease occurring in the period II to 55.3%. The

  16. Comprometimento do desenvolvimento pondo-estatural em crianças portadoras de cardiopatias congênitas com Shunt Cianogênico - doi:10.5020/18061230.2008.p98

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    Denise Gonçalves Moura Pinheiro

    2012-01-01

    Full Text Available Objetivo: Identificar alterações no desenvolvimento pondo-estatural de crianças com cardiopatias congênitas cianóticas (CCCs. Métodos: Tratou-se de um estudo transversal e de caráter descritivo. Estudaram-se 30 crianças com CCCs, de faixa etária entre zero e oito anos. Analisaram-se as variáveis prevalência de acometimento por sexo, tipo de malformação congênita e índices antropométricos (Peso/Idade, Altura/Idade e Peso/Altura os quais foram comparados com valores padronizados e propostos para a idade de acordo com a tabela de desenvolvimento pondo-estatural (DPE normal do National Center for Health Statistics (NCHS. Resultados: Houve um maior acometimento do gênero masculino sendo que as CCCs mais incidentes foram a Tetralogia de Fallot e a Dupla Transposição de Grandes Vasos da Base. Dentre as crianças com CCCs, 90% apresentavam um menor índice Peso/ Idade, 83% apresentavam um menor índice Altura/Idade e 97% tinham um menor índice de DPE (Peso/Altura. Conclusões: Crianças com CCCs apresentam uma alta prevalência de hipodesenvolvimento ponderal, déficit de crescimento linear e hipodesenvolvimento pondoestatural comparado à padrões de referência do NCHS. A assistência nutricional e o incentivo à prática de atividade física teriam um papel importante na reabilitação física após a correção cirúrgica da malformação congênita em crianças com CCCs.

  17. Estudo comparativo entre o método convencional e o método da peroxidase anti-peroxidase na pesquisa do parasitismo tissular na cardiopatia chagásica crônica

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    A. J. A. Barbosa

    1986-04-01

    Full Text Available Na maioria dos chagásicos crônicos o Trypanosoma cruzi não é detectado no tecido ou apresenta se com extrema raridade, mesmo quando é pesquisado exaustivamente. Sendo os métodos utilizados, até então, inespecíficos para a demonstração do T. cruzi, propôs-se no presente trabalho proceder ao estudo comparativo entre o método convencional (HE e o método imunocitoquímico pela peroxidase anti-peroxidase (PAP, na avaliação quantitativa do parasitismo. Selecionaram-se 3 casos de cardiopatia chagásica crônica e, de um mesmo fragmento de cada caso, obtiveram se cortes que foram corados pelo H.E. (média de 100 cortes por caso e, consecutivamente, outros que foram corados pelo PAP (média de 70 cortes por caso. O caso n.° 1 foi autopsiado em 1952 e apresentava parasitismo freqüente. Nos demais, o exame rotineiro foi negativo. Obtiveram-se os seguintes resultados expressos em n.° de ninhos/100 cortes, respectivamente, corados pelo H.E. e pelo P.A.P. (HE/PAP. Caso n.° 1 - 80/171; caso n.° 2 = 5/116 e caso n.° 3 = 1/2. Os resultados mostram que o método imunocitoquímico empregado, além de facilitar o diagnóstico do parasitismo, demonstra também pequenos ninhos de amastigotas que dificilmente seriam diagnosticados pelos métodos convencionais; além disso mostrou-se útil mesmo em tecido incluídos em parafina há longo tempo.

  18. eNOS se correlaciona com a biogênese mitocondrial em corações com cardiopatia congênita e cianose eNOS correlates with mitochondrial biogenesis in hearts of congenital heart disease with cyanosis

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    Juan Xiao

    2012-09-01

    Full Text Available FUNDAMENTO: O programa de biogênese mitocondrial no coração parece apresentar remodelação adaptativa após estresse biomecânico e oxidativo. Os mecanismos adaptativos que protegem o metabolismo do miocárdio durante a hipóxia são coordenados, em parte, pelo óxido nítrico (NO. OBJETIVO: Observar a biogênese mitocondrial e expressão do óxido nítrico sintase (NOS em corações de cardiopatia congênita com cianose; discutir a resposta mitocondrial à hipóxia crônica do miocárdio. MÉTODOS: Foram investigados 20 pacientes com defeitos cardíacos cianóticos (n = 10 ou acianóticos (n = 10. Foram estudadas amostras do miocárdio na via de saída ventricular direita, tomadas durante a operação. A análise morfométrica de mitocôndrias foi realizada por microscopia eletrônica de transmissão. A relação mtDNA/nDNA foi determinada com PCR em tempo real. Os níveis de transcrição da subunidade I da citocromo c oxidase (COXI, coativador-1α do receptor γ ativado por proliferador de peroxissoma (PGC-1α, o fator respiratório nuclear 1 (NRF1, e fator de transcrição mitocondrial A (Tfam foram detectados por reação em cadeia da polimerase via transcriptase reversa (RT-PCR ativado por fluorescência em tempo real. Os níveis proteicos de COXI e nNOS, iNOS e eNOS foram medidos por técnica de Western Blot. RESULTADOS: A densidade volumétrica mitocondrial (Vv e a densidade numérica (Nv foram significativamente elevadas em pacientes com cianose, em comparação com a cardiopatia congênita acianótica. MtDNA elevada e suprarregulação dos níveis de COXI, PGC-1 α, NRF1 e Tfam mRNA foram observadas em pacientes cianóticos. Os níveis de proteína de COXI e eNOS foram significativamente maiores no miocárdio de pacientes cianóticos que nos de acianóticos. Os níveis de transcrição do PGC-1α se correlacionam com os níveis de eNOS. CONCLUSÃO: A biogênese mitocondrial é ativada no miocárdio da via de saída ventricular na

  19. Guia de tomada de decisão em cardiopatias congênitas em página Web na Internet: modelo Atresia Tricúspide Guidelines to decision - making in congenital heart disease on the WEB interface: Tricuspid Atresia model

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    Ruy Guilherme Rodrigues CAL

    1999-04-01

    Full Text Available Estimulada pelo desafio de gerenciar toda a informação envolvida na formação do conhecimento na área de saúde, a Informática Médica desenvolveu-se em larga escala em todos os países. O recente sucesso da rede Internet como veículo de distribuição de informação incentiva a elaboração de programas médicos para utilização através dessa rede. A elaboração de um programa de apoio à decisão - para cardiopatias congênitas em forma de documento em hipertexto de World-Wide Web - apresentado pela Internet possibilitaria o aproveitamento das características de processamento e armazenamento distribuído dessa rede. Este projeto teve como objetivos: criar um modelo de guia de tomada de decisão em cirurgia cardíaca pediátrica usando como base a Atresia Tricúspide; avaliar o grau de complexidade da criação deste modelo e os benefícios pelo emprego de interface em página WEB; testar sua validação com os casos de 16 pacientes tratados na Universidade Federal de São Paulo, no período de 1980 a março de 1997. Com a utilização de hardware adequado e da linguagem de programação HTML, o programa foi desenvolvido com a utilização de 7 telas de fluxograma, conjunto de textos e 37 ilustrações. Durante a elaboração deste modelo foi possível constatar a possibilidade de fácil desenvolvimento e rápida atualização. O resultado da validação mostrou concordância significativa (91,66% com as indicações cirúrgicas realizadas pelos especialistas, na Universidade Federal de São Paulo.Stimulated by the challenge of updating and organizing all the information acquired in the health field, computer medicine has developed on a wide global scale. The recent success of the Internet for distribution of information has created a need for the production and distribution of medical programs for use via this network. The creation of a decision-making program through the World Wide Web for congenital heart diseases could provide

  20. Realce Tardio miocárdico por Ressonância Magnética Cardíaca pode identificar risco para Taquicardia Ventricular na Cardiopatia Chagásica Crônica Delayed enhancement cardiac magnetic resonance Imaging can identify the risk for ventricular tachycardia in chronic Chagas' heart disease

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    Ronaldo Peixoto de Mello

    2012-05-01

    Full Text Available FUNDAMENTO: Testes invasivos e não invasivos têm sido usados para identificar risco para Taquicardia Ventricular (TV em pacientes com Cardiopatia Chagásica Crônica (CCC. Ressonância Magnética Cardíaca (RMC pela técnica do Realce Tardio (RT pode ser útil para selecionar pacientes com disfunção ventricular global ou segmentar, com alto grau de fibrose e maior risco para TV clínica. OBJETIVO: Melhorar a identificação de elementos preditivos de TV em pacientes com CCC. MÉTODO: Quarenta e um pacientes com CCC foram pesquisados, sendo 30 (72% do sexo masculino, com média de idade de 55,1 ± 11,9 anos. Vinte e seis pacientes apresentavam histórico de TV (grupo TV, e 15 não apresentavam TV (grupo NTV. Todos os pacientes incluídos tinham RT e disfunção segmentar ventricular. Volume, porcentagem de comprometimento da espessura da parede ventricular em cada segmento, e distribuição de RT foi determinado em cada caso. RESULTADOS: Não houve diferença estatística em termos de volume de RT entre os dois grupos: grupo TV = 30,0 ± 16,2%; grupo NTV = 21,7 ± 15,7%; p = 0,118. A probabilidade de TV foi maior se duas ou mais áreas contíguas de fibrose transmural estivessem presentes, sendo um fator preditor de TV clínica (RR 4,1; p = 0,04. A concordância entre os observadores foi de 100% nesse critério (p BACKGROUND: Invasive and non-invasive tests have been used to identify the risk of ventricular tachycardia (VT in patients with chronic Chagas' heart disease (CCHD. Cardiac magnetic resonance imaging (CMRI using the delayed enhancement (DE technique can be useful to select patients with global or segmentary ventricular dysfunction, with high degree of fibrosis and at higher risk for clinical VT. OBJECTIVE: To improve the identification of predictors of VT in patients with CCHD. METHOD: This study assessed 41 patients with CCHD [30 (72% males; mean age, 55.1 ± 11.9 years]. Twenty-six patients had history of VT (VT group, and 15 had

  1. Genetics Home Reference: myotonia congenita

    Science.gov (United States)

    ... Manual Consumer Version: Congenital Myopathies Orphanet: Thomsen and Becker disease Patient Support and Advocacy Resources (3 links) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource ...

  2. Genetics Home Reference: pachyonychia congenita

    Science.gov (United States)

    ... 27 [updated 2014 Jul 24]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  3. Pachyonychia Congenita and Mental Deficiency

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    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.

  4. 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)

  5. Realce Tardio miocárdico por Ressonância Magnética Cardíaca pode identificar risco para Taquicardia Ventricular na Cardiopatia Chagásica Crônica

    Directory of Open Access Journals (Sweden)

    Ronaldo Peixoto de Mello

    2012-05-01

    Full Text Available FUNDAMENTO: Testes invasivos e não invasivos têm sido usados para identificar risco para Taquicardia Ventricular (TV em pacientes com Cardiopatia Chagásica Crônica (CCC. Ressonância Magnética Cardíaca (RMC pela técnica do Realce Tardio (RT pode ser útil para selecionar pacientes com disfunção ventricular global ou segmentar, com alto grau de fibrose e maior risco para TV clínica. OBJETIVO: Melhorar a identificação de elementos preditivos de TV em pacientes com CCC. MÉTODO: Quarenta e um pacientes com CCC foram pesquisados, sendo 30 (72% do sexo masculino, com média de idade de 55,1 ± 11,9 anos. Vinte e seis pacientes apresentavam histórico de TV (grupo TV, e 15 não apresentavam TV (grupo NTV. Todos os pacientes incluídos tinham RT e disfunção segmentar ventricular. Volume, porcentagem de comprometimento da espessura da parede ventricular em cada segmento, e distribuição de RT foi determinado em cada caso. RESULTADOS: Não houve diferença estatística em termos de volume de RT entre os dois grupos: grupo TV = 30,0 ± 16,2%; grupo NTV = 21,7 ± 15,7%; p = 0,118. A probabilidade de TV foi maior se duas ou mais áreas contíguas de fibrose transmural estivessem presentes, sendo um fator preditor de TV clínica (RR 4,1; p = 0,04. A concordância entre os observadores foi de 100% nesse critério (p < 0,001. CONCLUSÃO: A identificação de dois ou mais segmentos de RT transmural por RMC está associado com a ocorrência de TV clínica em pacientes com CCC. Portanto, a RMC melhora a estratificação de risco na população estudada. (Arq Bras Cardiol. 2012; [online].ahead print, PP.0-0

  6. Early Osteoarthritis and Osteoporosis Due to Spondyloepiphysial Dysplasia: A Case Report - Case Report

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    Asylbek Kaparov

    2009-12-01

    Full Text Available Spondyloepiphysial dysplasia (SED is a rare diseases which causes delayed growth, short statue and involves the centre of the vertebral epiphysis. SED congenita and SED tarda are two different clinical forms of this disease. SED tarda with progressive arthropathy is another rare clinical appearance. SED is more frequently seen in male patients due to a genetic recessive transmission by chromosome X. The disease is characterized by a delay in the formation of epipysis, shortness of spine and extremities, kyphoscoliosis, coxa vara and platyspondily. In this case report we aimed to discuss an adolescent male SED tarda patient with early onset of osteoarthritis and osteoporosis, who was diagnosed as Scheuerman disease in the orthopedics clinic and treated with growth hormone for growth retardation in the pediatric endocrinology clinic. Important findings and labotatory investigation methods for diagnosis and treatment of this diasese will be outlined. (From the World of Osteoporosis 2009;15:79-82

  7. Rastreamento de cardiopatias congênitas associadas ao diabetes mellitus por meio da concentração plasmática materna de frutosamina Congenital cardiopathies screening associated with diabetes mellitus using maternal fructosamine plasma concentration

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    Zilma Silveira Nogueira Reis

    2010-02-01

    Full Text Available OBJETIVO: avaliar a importância da concentração plasmática materna de frutosamina como indicador de cardiopatias congênitas fetais, em gestações complicadas pelo diabetes mellitus. MÉTODOS: o estudo retrospectivo incluiu 91 gestantes portadoras de diabetes mellitus, as quais foram submetidas à ecocardiografia fetal de rotina em centro universitário de referência em Medicina Fetal. Foram selecionadas 65 pacientes que apresentavam diabete pré-gestacional e registro em prontuário médico de frutosamina plasmática anterior ao exame ultrassonográfico. A primeira dosagem registrada foi confrontada com o resultado da ecocardiografia fetal de rotina, realizada por médico especialista do serviço. A presença ou ausência de achados ecográficos de cardiopatia congênita (AECC foi relacionada aos níveis plasmáticos de frutosamina, por meio de teste de médias, e sua acuidade para AECC verificada por curva ROC. Foram discutidos como pontos de corte os valores da concentração plasmática materna de frutosamina de 2,68, 2,9 e 2,23 mmol/L, que são, respectivamente, o valor de referência local do laboratório, o do kit de dosagem empregado e o de maior acurácia global. RESULTADOS: o AECC foi encontrado em 52,3% dos fetos. A primeira dosagem de frutosamina durante o pré-natal aconteceu em média com 20,4±8,0 semanas de gestação. A capacidade da concentração materna de frutosamina em identificar fetos com AECC foi significante (pPURPOSE: to evaluate the importance of maternal plasma concentration of fructosamine as an indicator of fetal congenital cardiopathies in pregnancies complicated by diabetes mellitus. METHODS: this was a retrospective study conducted on 91 pregnant women with diabetes mellitus who underwent routine fetal echocardiography at a university reference center in fetal medicine. Sixty-five patientes who presented pre-gestational diabetes mellitus and plasma fructosamine level were registered in the medical records

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

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    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

  9. Assessment and epidemiology of Chagas' disease in patients treated in Araguaina - Tocantins; Avaliacao e epidemiologia da cardiopatia chagasica em pacientes atendidos em Araguaina - Tocantins

    Energy Technology Data Exchange (ETDEWEB)

    Correa, Valeria Rita

    2010-07-01

    Chagas disease (AD) was described by Carlos Chagas in 1909. It is caused by a parasite T. cruzi, transmitted by bugs, by blood transfusion, vertical and orally. The DC has two phases: acute and chronic. The evolution to the cardiac form occurs in about 30% of chronic cases and is the largest cause of mortality in chronic Chagas disease. The aim of this study was to Chagas' disease in patients of Tocantins, compared with other heart patients and asymptomatic from the standpoint of non-invasive exams using radiant energies such as echocardiography and ECG and RX. The descriptive study included 80 patients, 20 chronic form of Chagas disease, 20 indeterminate, 20 with other heart diseases, and 20 controls. There was a prevalence of 9.5% of chagasic patients treated in outpatient cardiology at Araguaina Tocantins, and 7.3% in chronic and 2.21% in the indeterminate. Of the chronic patients in the study 50% had mega esophagus and megacolon 4 (20%). Most patients had no family history of AD, nor was a smoker or drinker. Major electrocardiographic abnormalities found refer to driving. The evaluation of ICT, the chronic chagasic showed that increased by 40% of patients, 40% had esophageal changes and 20% of patients had megacolon s. The echocardiogram was abnormal in 42%). 27% of patients had EF below 55% changed. Changes in segmental contractility and Asynchrony septum were found in 80% of chronic Chagas disease. In 80% of the patients was observed diastolic dysfunction. The valvular changes occurred in 75%. Electrocardiographic abnormalities occurred in 80% of patients with CCC, while the other heart had ECG changes. Arterial hypertension had an incidence of 45% in patients with CCC and 40% in FCI. The systolic and diastolic ventricular dysfunction was more prevalent in groups that had an abnormal ECG and arrhythmia. Observed that the group of chagasic decreased ejection fraction is correlated to a higher incidence of arrhythmias besides diastolic dysfunction and

  10. Cardiopatia congênita no adulto: perfil clínico ambulatorial no Hospital das Clínicas de Ribeirão Preto Congenital heart disease in adults: outpatient clinic profile at the Hospital das Clínicas of Ribeirão Preto

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    Fernando Amaral

    2010-06-01

    Full Text Available FUNDAMENTO: Experiências de serviços em adultos com cardiopatias congênitas não têm sido relatadas no nosso meio. OBJETIVO: Descrever o perfil clínico básico de adultos com cardiopatias congênitas atendidos ambulatorialmente em centro terciário. MÉTODOS: Anotaram-se dados referentes a idade, sexo, procedência, diagnóstico principal e diagnósticos secundários de 413 pacientes atendidos durante sete anos. RESULTADOS: G1 (não tratados: 195 pacientes, 51% mulheres, 57% entre 14 e 30 anos, 80% residentes na região. As cardiopatias mais frequentes foram comunicação interventricular (CIV (31%, comunicação interatrial (CIA (29% e estenose pulmonar (7%. Os diagnósticos secundários predominantes foram hipertensão arterial (9% e arritmias (5%. G2 (tratados: 218 pacientes, 56% mulheres, 57% entre 14 e 30 anos, 81% residentes na região. As cardiopatias mais frequentemente tratadas foram CIA (36%, tetralogia de Fallot (14%, coarctação da aorta (12% e CIV (11%. Sessenta e nove (32% pacientes foram operados na idade adulta. Dezesseis (7% foram submetidos a um cateterismo intervencionista. Os diagnósticos secundários predominantes foram hipertensão arterial (18% e arritmias (8%. CONCLUSÃO: Na casuística, predominaram pacientes tratados invasivamente, residentes na região e a maioria com idade abaixo de 40 anos. Defeitos como CIA, CIV e estenose pulmonar predominaram no grupo não tratado, ao passo que, nos tratados, a maioria tinha sido submetida à correção de CIA, tetralogia de Fallot, coarctação da aorta e CIV. Hipertensão arterial e arritmias foram relevantes em ambos os grupos, sendo também registrada grande diversidade de outras comorbidades.BACKGROUND: Service experiences for adults with congenital heart disease have not been reported in our country. OBJECTIVE: To describe the basic clinical profile of adults with congenital heart disease in an outpatient tertiary care center. METHODS: We compiled data on age, gender

  11. Saturação periférica de oxigênio, frequência cardíaca e pressão arterial sistêmica em crianças portadoras de cardiopatia congênita cianogênica com hipofluxo pulmonar durante procedimento odontológico

    OpenAIRE

    Rosane Menezes Faria Dutra

    2012-01-01

    INTRODUÇÃO: Crianças portadoras de cardiopatia congênita cianogênica com hipofluxo pulmonar (CCCHP) necessitam de tratamento odontológico com frequência. Não encontramos estudos na literatura sobre o impacto na oxigenação dessas crianças durante os procedimentos odontológicos. A hipótese inicial era de que essas crianças submetidas a tratamento odontológico em consultório, poderiam apresentar alterações de saturação periférica de oxigênio (SpO2), pressão arterial sistêmica (PA) e frequência c...

  12. Avaliação dos resultados tardios da operação de derivação cavo-pulmonar bidirecional, no tratamento paliativo de cardiopatias congênitas com câmara ventricular única Assessment of late results of bidirecional cavopulmonary shunt on paliative treatment of congenital heart disease with functional isolated ventricular chamber

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    Miguel Angel Maluf

    1994-06-01

    Full Text Available No período de março de 1990 a janeiro de 1994, 17 pacientes com idades de 1 a 13 anos (média: 7 anos, portadores de cardiopatias congênitas com câmara ventricular única funcionante, foram submetidos a operação de derivação cavo-pulmonar bidirecional. Nove pacientes tinham atresia tricúspide (AT, 7 do tipo lb, 1 tipo le e 1 tipo Mb. Cinco pacientes tinham dupla via de entrada ventricular tipo ventrículo direito (DVEVD; 2 com comunicação interventricular(CIV múltipla+hipoplasiado VD; 1 com atresia pulmonar com septo interventricular íntegro (APc/SIVI. Nove (52,9% pacientes tinham operações paliativas prévias. A operação foi realizada com auxílio da circulação extracorpórea (CEC em 12 (70,5% casos e mediante derivação do fluxo sangüíneo da veia cava superior (VCS para o átrio direito (AD em 5 (29,5% casos. Em todos os casos a VCS foi anastomosada à artéria pulmonar direita (APD, interrompendo o fluxo sangüíneo para o pulmão, fechando a valva pulmonar e ligando a derivação de Blalock-Taussig pérvio. Houve 3 (17,6% óbitos no pós-operatório imediato (POI e 2 (14,2% no pós-operatório tardio (POT. Doze (70,5% pacientes estão em acompanhamento clínico, com um tempo de evolução de 2 a 46 meses. Um paciente foi submetido ao 2º tempo da operação, tunelizando a veia cava inferior (VCI para a APD, com sucesso. A avaliação do fluxo da derivação cavo-pulmonar bidirecional está sendo realizada pela ecodopplercardiografia e ressonância nuclear magnética e a perfusão pulmonar mediante cintilografia radioisotópica. A indicação do 2º tempo da operação obedece à própria evolução clínica e avaliação da saturação arterial durante a cicioergometria. A derivação cavo-pulmonar bidirecional permite uma adaptação progressiva do fluxo venoso para o pulmão, diminuindo a sobrecarga de volume do ventrículo, preparando o paciente para a derivação venosa total.From March 1990 to January 1994, 17

  13. 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.

  14. Estudo comparativo da ultrafiltração convencional e associação de ultrafiltração convencional e modificada na correção de cardiopatias congênitas com alto risco cirúrgico Comparative study of standard ultrafiltration and its association with modification for the correction of high surgical risk congenital heart diseases

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    Miguel Angel MALUF

    1999-07-01

    Full Text Available A necessidade de correção cirúrgica de má-formações cardíacas complexas, que requerem tempos prolongados de circulação extracorpórea (CEC aumentou a morbimortalidade devido a retenção hídrica e reação inflamatória sistêmica. O objetivo deste estudo é comparar a evolução pós-operatória imediata de pacientes submetidos a ultrafiltração convencional (UFC durante a CEC e ultrafiltração modificada (UFM após CEC. Quarenta e um pacientes submetidos a correção cirúrgica de cardiopatias congênitas foram divididos em 2 grupos: G1: 21 pacientes com idade de 15 dias a 36 meses (mediana: 11 meses e peso de 3,6 a 13,5 kg (M: 7,27 ± 3,07, operados entre 1996 e 1997, foram submetidos a UFC. G2: 20 pacientes com idade de 9 dias a 36 meses (mediana: 5,5 meses e peso entre 2,2 e 12 kg (M: 5,7 ± 2,5, operados entre 1997 e 1998, foram submetidos a UFC+UFM. Dentre as operações mais freqüentes temos: ventriculosseptoplastia, 15 (36,5% casos; operação de Jatene, 10 (24,3% casos; correção de defeito septal A-V total, 7 (17,0% casos etc. A análise estatística de idade, peso e complexidade cirúrgica mostrou semelhança entre os grupos. Houve 6 (28,5% óbitos no G1 e 4 (20% no G2, (p=0,71. O volume médio ultrafiltrado no G1 (UFC foi 143,3 ml e no G2 (UFC+UFM foi 227,0 ml, (pSurgical correction of complex cardiac malformations that require extended extracorporeal circulation (ECC increase morbidity/mortality due to water retention and systemic inflammatory reaction. The purpose of this study is to compare the immediate postoperative evolution of patients submitted to conventional ultrafiltration (CUF during ECC and modified ultrafiltration (MUF after ECC. Forty-one patients submitted to surgical correction of congenital cardiac disease were divided into 2 groups: G1 - 21 patients with ages from 15 days to 36 months (median 11 months and weighing from 3.6 kg (M: 7.27 ± 3.07, operated on between 1996 and 1997 were submitted to CUF

  15. O significado de ser mãe de um filho portador de cardiopatia: um estudo fenomenológico El significado de ser madre de un hijo portador de cardiopatía: un estudio fenomenológico The meaning of being a mother of a child with a heart disease: a phenomenological study

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    Ribeiro Carine

    2006-03-01

    Full Text Available Este estudo teve por objetivo compreender a vivência da mãe que possui um filho portador de cardiopatia congênita. Para tal, utilizei-me da abordagem fenomenológica. O estudo foi realizado com mães de crianças com cardiopatia congênita cianótica internadas no Centro de Cardiologia Infantil de um hospital público de Campo Grande - MS. Foram realizadas dez entrevistas abertas com a seguinte questão norteadora: O que é para você ter um filho com problema no coração?. A análise compreensiva das falas possibilitou a construção de três cate-gorias: "Descobrindo a doença: estar diante do desconhecido"; "Convivendo com a cardiopatia: ser com o filho na doença" e "Acreditando em uma força maior: a sustentação necessária". O impacto da doença para a mãe inicia-se com o nascimento do filho. Sentimentos, como desespero, culpa e insegurança, são descritos como presentes. É em Deus, porém, que ela busca a sustentação necessária para trilhar esse novo caminho. Caminho de dor e de fé.En este estudio se tuvo por objetivo comprender la vivencia de la madre que posee un hijo portador de cardiopatía congénita. Fue utilizado el abordaje fenomenológico y el estudio realizado con madres de niños con cardiopatía congénita cianótica internados en el Centro de Cardiología Infantil de un hospital público de Campo Grande - MS. Fueron realizadas diez entrevistas abiertas con la siguiente pregunta orientadora: ¿que es para ud. tener un hijo con problema en el corazón?. El análisis comprensivo de los discursos posibilitó la construcción de tres categorías: "Des-cubriendo la enfermedad: estar delante de lo desconocido"; "Conviviendo con la cardiopatía: ser con el hijo en la enfermedad" y "Creyendo en una fuerza mayor: el sustento necesario". El impacto de la enfermedad para la madre se inicia con el nacimiento del hijo. Sentimientos tales como desesperación, culpa e inseguridad, son descritos como presentes. Es en Dios, no

  16. Perfil das crianças submetidas à correção de cardiopatia congênita e análise das complicações respiratórias Perfil de los niños sometidos a la corrección de cardiopatía congénita y análisis de las complicaciones respiratorias Profile of children undergoing congenital heart surgery and analysis of their respiratory complications

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    Priscila Mara N. Oliveira

    2012-01-01

    Full Text Available OBJETIVO: Descrever as características demográficas e clínicas de crianças submetidas à cirurgia de correção de cardiopatia congênita (CC em um hospital universitário, comparando pacientes com e sem complicações respiratórias no pós-operatório. MÉTODOS: Estudo retrospectivo, realizado por meio de consulta de prontuários de crianças submetidas à cirurgia corretiva de CC em hospital universitário brasileiro no período de novembro de 2006 a setembro de 2007. Foram analisados dados relativos a idade, sexo, peso, comorbidades e tipo de CC das crianças incluídas no estudo, comparando pacientes com e sem complicações respiratórias no pós-operatório. Foram utilizados o teste de Mann-Whitney e exato de Fisher, considerando-se significante pOBJETIVO: Describir las características demográficas y clínicas de niños sometidos a la cirugía de corrección de cardiopatía congénita (CC en un hospital universitario, comparando pacientes con y sin complicaciones respiratorias en el post-operatorio. MÉTODOS: Estudio retrospectivo, realizado por medio de consulta de prontuarios de niños sometidos a la cirugía correctiva de CC, en el Hospital de Clínicas de la Universidad Estadual de Campinas (Unicamp, en el periodo de noviembre de 2006 a septiembre de 2007. Se analizaron datos relativos a la edad, sexo, peso, comorbidades y tipo de CC de los niños incluidos en el estudio, comparando pacientes con y sin complicaciones respiratorias en el post-operatorio. Se utilizaron el test de Mann-Whitney y el exacto de Fisher, considerándose significante pOBJECTIVE: To describe the profile of children that undergo surgical correction of congenital heart disease (CHD in a university hospital and to compare patients with and without postoperative respiratory complications. METHOD: This observational analytical study reviewed the records of children that underwent corrective surgery for CHD a Brazilian University Hospital during 11 months. The

  17. Aprotinina preserva plaquetas em crianças com cardiopatia congênita acianogênica operadas com circulação extracorpórea? Does aprotinin preserve platelets in children with acyanogenic congenital heart disease undergone surgery with cardiopulmonary bypass?

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    Cesar Augusto Ferreira

    2009-09-01

    Full Text Available OBJETIVO: Avaliação dos efeitos hemostáticos e plaquetários em crianças submetidas a correção de cardiopatias congênitas acianogênicas com circulação extracorpórea que receberam aprotinina. MÉTODOS: Estudo prospectivo randomizado em crianças de 30 dias a 4 anos de idade, submetidas a correção de cardiopatia congênita acianogênica, com circulação extracorpórea (CEC e divididas em dois grupos, um denominado Controle (n=9 e o outro, Aprotinina (n=10. Neste, a droga foi administrada antes e durante a CEC. A disfunção hemostática foi analisada por marcadores clínicos e bioquímicos. Foram consideradas significantes as diferenças com POBJECTIVE: Evaluation of the hemostatic and platelets effects in children with acyanogenic congenital heart disease undergone on-pump surgery who received aprotinin. METHODS: A prospective randomized study was performed on children aged 30 days to 4 years who had undergone correction of acyanogenic congenital heart disease using cardiopulmonary bypass (CPB and were divided into two groups: Control (n=9 and Aprotinin (n=10. In the Aprotinin Group the drug was administered before and during CPB and the hemostatic dysfunction was analyzed by clinical and biochemical markers. Differences were considered to be significant when P<0.05. RESULTS: The groups were similar regarding demographic and intraoperative variables, except for a greater hemodilution in the Aprotinin Group. The drug presented no benefit regarding time of mechanical pulmonary ventilation, stay in the postoperative intensive care unit and hospital, or regarding the use of inotropic drugs and renal function. Platelet concentration was preserved with the use of Aprotinin, whereas thrombocytopenia occurred in the Control Group since the initiation of CPB. Blood loss was similar for both groups. There were no complications with the use of Aprotinin. CONCLUSION: Aprotinin quantitatively preserved the blood platelets in children with

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

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    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

  19. Funções autonômica cardíaca e mecânica ventricular na cardiopatia chagásica crônica assintomática Cardiac autonomic and ventricular mechanical functions in asymptomatic chronic chagasic cardiomyopathy

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    Daniel França Vasconcelos

    2012-02-01

    Full Text Available FUNDAMENTO: A associação das funções autonômica cardíaca e ventricular sisto-diastólica variavelmente alteradas ainda é controversa e pouco explorada na cardiopatia chagásica crônica. OBJETIVO: Avaliar em que extensão as funções autonômica cardíaca e mecânica ventricular estão alteradas e se ambas estão relacionadas na cardiopatia chagásica assintomática. MÉTODOS: EM 13 cardiopatas chagásicos assintomáticos e 15 indivíduos normais (grupo controle, foram avaliadas e correlacionadas a modulação autonômica da variabilidade da frequência cardíaca durante cinco minutos, nos domínios temporal e espectral, nas posições supina e ortostática, e a função ventricular com base em variáveis morfofuncionais Doppler ecocardiográficas. A análise estatística empregou o teste de Mann-Whitney e a correlação de Spearman. RESULTADOS: Em ambas as posições, os índices temporais (p = 0,0004-0,01 e as áreas espectrais total (p = 0,0007-0,005 e absoluta, de baixa e alta frequências (p = 0,0001-0,002, mostraram-se menores no grupo chagásico. O balanço vagossimpático mostrou-se semelhante em ambas as posturas (p = 0,43-0,89. As variáveis ecocardiográficas não diferiram entre os grupos (p = 0,13-0,82, exceto o diâmetro sistólico final do ventrículo esquerdo que se mostrou maior (p = 0,04, correlacionando-se diretamente com os reduzidos índices da modulação autonômica global (p = 0,01-0,04 e parassimpática (p = 0,002-0,01, nos pacientes chagásicos, em posição ortostática. CONCLUSÃO: AS DEpressões simpática e parassimpática com balanço preservado associaram-se apenas a um indicador de disfunção ventricular. Isso sugere que a disfunção autonômica cardíaca pode preceder e ser independentemente mais severa que a disfunção ventricular, não havendo associação causal entre ambos os distúrbios na cardiopatia chagásica crônica.BACKGROUND: The association of variably altered cardiac autonomic and

  20. Cardiopatias congênitas em um serviço de referência: evolução clínica e doenças associadas Congenital heart diseases in a reference service: clinical evolution and associated illnesses

    Directory of Open Access Journals (Sweden)

    Janaína Huber

    2010-03-01

    Full Text Available FUNDAMENTO: Inúmeros fatores vêm contribuindo para a mudança do perfil do paciente com cardiopatia congênita (CC, incluindo o diagnóstico pré-natal e a disponibilidade de novos procedimentos terapêuticos. O conhecimento dessas mudanças é fundamental para um melhor atendimento. OBJETIVOS: Descrever o perfil dos pacientes com CC de um serviço de referência no Estado do Rio Grande do Sul, Brasil. MÉTODOS: Trata-se de um estudo transversal, com 684 pacientes portadores de CC, em um serviço de cardiologia pediátrica, de janeiro de 2007 a maio de 2008. Esses pacientes foram entrevistados (e/ou seus pais e examinados (malformações congênitas, medidas antropométricas, além de terem seus prontuários revisados para mais detalhes sobre as cardiopatias, procedimentos e ecocardiografia. RESULTADOS: A idade dos pacientes variou de 16 dias a 66 anos, sendo 51,8% do sexo feminino, com 93,7% de brancos. A idade média determinada pelo diagnóstico foi de 15,8 ± 46,8 meses. As CC mais prevalentes foram a comunicação interventricular, a persistência do canal arterial e a Tetralogia de Fallot. Dos pacientes analisados, 59,1%, com idade média de 44,3 ± 71,2 meses, realizaram algum procedimento terapêutico; 30,4% tinham malformações congênitas extracardíacas; e 12 pacientes tinham síndrome genética comprovada. Quanto ao desenvolvimento, 46,6% tiveram atraso ponderoestatural e 13,7% atraso neuropsicomotor. Além disso, 18,4% apresentaram história familiar de cardiopatia congênita. CONCLUSÕES: O atraso neuropsicomotor e o baixo ganho ponderoestatural podem estar associados às CC. Estabelecer um perfil dos pacientes com CC atendidos em uma instituição de referência pode servir como base para o planejamento adequado do atendimento desta população.BACKGROUND: Several factors, which include prenatal diagnosis and availability of new therapeutic procedures, have contributed to change the profile of patients with congenital heart

  1. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    Science.gov (United States)

    ... bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. ... Diseases Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  2. Monitorização materno-fetal durante procedimento odontológico em portadora de cardiopatia valvar Monitoreo maternofetal durante procedimiento odontológico en portadora de cardiopatía valvular Maternal-fetal monitoring during dental procedure in patients with heart valve disease

    Directory of Open Access Journals (Sweden)

    Itamara Lucia Itagiba Neves

    2009-11-01

    Full Text Available FUNDAMENTO: Os efeitos da anestesia local em odontologia com lidocaína e epinefrina, sobre parâmetros cardiovasculares de gestantes portadoras de valvopatias e seus conceptos, não estão esclarecidos. OBJETIVO: Avaliar e analisar parâmetros da cardiotocografia, de pressão arterial e eletrocardiográficos da gestante portadora de doença valvar reumática, quando submetida à anestesia local com 1,8 ml de lidocaína 2% sem vasoconstritor e com epinefrina 1:100.000, durante procedimento odontológico restaurador. MÉTODOS: Realizamos monitorização ambulatorial da pressão arterial, eletrocardiografia ambulatorial materna e cardiotocografia de 31 portadoras de cardiopatia reumática, entre a 28ª e 37ª semana de gestação, divididas em dois grupos conforme presença ou não do vasoconstritor RESULTADOS: Demonstrou-se redução significativa dos valores de frequência cardíaca materna nos dois grupos, durante o procedimento, quando comparado aos demais períodos (p 0,05. O mesmo ocorreu (p > 0,05 com número de contrações uterinas, nível e variabilidade da linha de base e número de acelerações da frequência cardíaca fetal. CONCLUSÃO: O uso de 1,8 ml de lidocaína 2% associado à adrenalina mostrou-se seguro e eficaz em procedimento odontológico restaurador durante a gestação de mulheres com cardiopatia valvar reumática.FUNDAMENTO: Los efectos de la anestesia local en odontología con lidocaína y epinefrina, sobre los parámetros cardiovasculares de gestantes portadoras de valvulopatías y sus conceptos, no son claros. OBJETIVO: Evaluar y analizar parámetros de la cardiotocografía, de la presión arterial y electrocardiográficos de la gestante portadora de enfermedad valvular reumática, al someterse a anestesia local con 1,8 ml de lidocaína 2% sin vasoconstrictor y con epinefrina 1:100.000, durante procedimiento odontológico restaurador. MÉTODOS: Realizamos monitoreo ambulatorio de la presión arterial

  3. Alterações da função pulmonar após tratamento cirúrgico de cardiopatias congênitas com hiperfluxo pulmonar Changes in pulmonary function after surgical treatment of congenital heart disease with pulmonary hyperflow

    Directory of Open Access Journals (Sweden)

    Lilian Goraieb

    2008-08-01

    Full Text Available FUNDAMENTO: Análise das condições pulmonares dos pacientes no pós-operatório de cirurgia cardíaca pediátrica. OBJETIVO: Avaliar o comportamento da complacência pulmonar e resistência da via aérea nos pacientes portadores de cardiopatias congênitas com hiperfluxo pulmonar, submetidos a tratamento cirúrgico com auxílio de circulação extracorpórea. MÉTODOS: Avaliaram-se, durante a cirurgia, 35 pacientes com medidas de complacência estática e resistência da via aérea, em quatro instantes distintos. As medidas pulmonares foram feitas de forma não-invasiva, com o método de oclusão da via aérea ao final da inspiração e uso de fórmulas matemáticas específicas. As variáveis observadas e relacionadas às alterações pulmonares foram: no período pré-operatório, idade, peso e relação entre fluxo sangüíneo sistêmico e pulmonar; no intra-operatório, tempos de perfusão, de anóxia e temperatura mínima; no pós-operatório, tempo de ventilação mecânica e de permanência na unidade de terapia intensiva. RESULTADOS: Ao final da cirurgia, a complacência pulmonar mostrou aumento significativo imediato (p BACKGROUND: Analysis of pulmonary status of pediatric patients in the postoperative phase of cardiac surgery. OBJECTIVE: To assess pulmonary compliance and airway resistance in patients with congenital heart disease and pulmonary hyperflow submitted to surgical treatment with the use of extracorporeal circulation. METHODS: Thirty-five patients were evaluated during surgery with measurements of static compliance and airway resistance at four different timepoints. Pulmonary measurements were performed non-invasively using end-inspiratory airway occlusion and specific mathematical formulas. The variables examined and related to pulmonary changes were: preoperative - age, weight, and relationship between systemic and pulmonary blood flow; intraoperative - perfusion times, anoxia times and minimum temperature; postoperative

  4. Evolution of nursing diagnoses for children with congenital heart disease Evolución de los diagnósticos enfermeros de niños con cardiopatías congénitas Evolução dos diagnósticos de enfermagem de crianças com cardiopatias congênitas

    Directory of Open Access Journals (Sweden)

    Viviane Martins da Silva

    2006-08-01

    diagnósticos de enfermagem em crianças portadoras de cardiopatias congênitas. Estudo longitudinal desenvolvido nos meses de julho a novembro de 2004. A amostra foi composta por 45 crianças internadas em um hospital da rede pública do município de Fortaleza, acompanhadas durante quinze dias de internamento. No período efetivaram-se seis avaliações diagnósticas. Foram encontrados 21 diagnósticos de enfermagem. Entre os diagnósticos, seis evidenciaram maiores oscilações em suas trajetórias de ocorrência no tempo: Padrão respiratório ineficaz, Intolerância à atividade, Desobstrução ineficaz das vias aéreas, Hipertermia, Padrão de sono perturbado e Risco para intolerância à atividade. Foram construídos cinco modelos paramétricos no domínio do tempo, com vistas a predizer a ocorrência desses diagnósticos de enfermagem. Conclui-se que o conhecimento da evolução temporal das respostas do indivíduo pode direcionar os cuidados de enfermagem para as reais necessidades do cliente.

  5. Análise inicial do uso de enxerto tubular orgânico L-D-Hydro - (Eato L-D-Hydro para realização de Blalock-Taussig modificado nas cardiopatias congênitas com hipofluxo pulmonar Initial analysis of the use of the L-D-Hydro (Eato L-D-Hydro organic tubular graft for performing the modified Blalock-Taussig procedure in congenital heart diseases with decreased pulmonary blood flow

    Directory of Open Access Journals (Sweden)

    Wilson Luiz da Silveira

    2005-03-01

    Full Text Available OBJETIVO: Analisar os resultados iniciais da utilização do enxerto tubular orgânico, utilizados para anastomoses sistêmico-pulmonares. MÉTODOS: De março/2002 a abril/2003, 10 pacientes foram submetidos à realização de shunt sistêmico pulmonar tipo Blalock-Taussig modificado utilizando um novo tipo de enxerto biológico originado da artéria mesentérica bovina tratada com poliglicol denominado L-D-Hydro. A idade variou de 3 dias a 7 anos e 60% dos pacientes eram do sexo masculino. O diagnóstico das cardiopatias foi determinado pela ecocardiografia, todos apresentando sinais clínicos de hipóxia severa (cianose. As cardiopatias foram: tetralogia de Fallot (40%, atresia tricúspide (50%, defeito do septo atrioventricular (10%. RESULTADOS: Em 10 pacientes, ocorreu um óbito por sepse e em nove houve melhora imediata na saturação de O2 ao oxímetro de pulso e da pressão parcial de oxigênio à gasometria arterial. Nenhum paciente apresentou obstrução do shunt no pós-operatório imediato ou qualquer outra complicação. Todos os pacientes mostraram shunt pérvio ao exame ecocardiográfico no pós-operatório imediato e tardio, realizado no 3º mês de pós-operatório. Nenhum paciente apresentou sangramento no intra e pós-operatório. CONCLUSÃO: O enxerto tubular L-D-HYDRO demonstrou ser promissor para a realização de shunt sistêmico pulmonar, como alternativa para produtos inorgânicos existentes no mercado, entretanto, temos de ter maior número de implantes e acompanhamento tardio para uma avaliação definitiva.OBJECTIVE: To analyze the initial results of the use of an organic tubular graft for systemic-pulmonary anastomoses. METHODS: From March 2002 to April 2003, 10 patients underwent systemic-pulmonary shunt of the modified Blalock-Taussig type, using a new type of biological graft originating from the bovine mesenteric artery treated with polyglycol, the so-called L-D-Hydro. The patients' ages ranged from 3 days to 7

  6. Modelo de cuidado transicional à mãe da criança com cardiopatia congênita Modelo de atención transicional a la madre del niño con cardiopatía congénita Model of maternal transitional care to mothers of a child with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Daniele Laís Brandalize Rocha

    2009-06-01

    Full Text Available OBJETIVOS: Desvelar o significado da vivência materna no processo de transição de doença-saúde do filho com cardiopatia congênita; identificar os comportamentos apresentados pela mãe durante a vivência e propor um modelo de cuidado transicional à mãe, à luz da teoria de enfermagem de Roy. MÉTODOS: Pesquisa qualitativa, desenvolvida por meio do método de pesquisa-cuidado, com entrevista semi-estruturada de 10 mães que acompanhavam seus filhos no pós-operatório de cirurgia cardíaca em hospital pediátrico. RESULTADOS: Pela análise de conteúdo de Bardin foram apreendidas seis Unidades de Contexto e onze Unidades de Significação que revelaram alterações sofridas pelas mães em sua vida pessoal e familiar durante a vivência materna do processo de transição de saúde-doença do filho. CONCLUSÕES: O enfermeiro, ao conhecer o processo de transição vivenciado pela mãe auxilia a mobilizar os recursos que possui para o enfrentamento e adaptação à nova situação pela aplicação do modelo de cuidado transicional.OBJETIVOS: Develar el significado de la vivencia materna en el proceso de transición de enfermedad-salud del hijo con cardiopatía congénita; identificar los comportamientos presentados por la madre durante la vivencia y proponer un modelo de cuidado de transición a la madre, a la luz de la teoría de enfermería de Roy. MÉTODOS: Investigación cualitativa, desarrollada por medio del método de investigación-cuidado, con entrevista semi-estructurada a 10 madres que acompañaban a sus hijos en el post-operatorio de cirugía cardíaca en un hospital pediátrico. RESULTADOS: Por el análisis de contenido de Bardin (1991 se elaboraron seis Unidades de Contexto y once Unidades de Significado que revelaron alteraciones sufridas por las madres en su vida personal y familiar durante la vivencia materna del proceso de transición de salud-enfermedad del hijo. CONCLUSIONES: El enfermero, al conocer el proceso de transici

  7. Osteogenesis Imperfecta: A Case Report and Review of Literature

    African Journals Online (AJOL)

    OI congenita was found in children whose parents have no traces of the ... fresh air and exercise.[25] Since then ... children,[9,34,35] as well as delay in healing of fractures after osteotomy. .... Castillo H, Samson‑Fang L, American Academy for Cerebral. Palsy and Developmental Medicine Treatment Outcomes. Committee ...

  8. Morbidade da doença de Chagas: I - Estudo de casos procedentes de vários estados do Brasil, observados no Rio de Janeiro Morbidity of Chagas' disease: I - Study of cases originating from various states of Brazil, observed in Rio de Janeiro

    Directory of Open Access Journals (Sweden)

    J. Rodrigues Coura

    1983-09-01

    Full Text Available Um estudo da morbidade através de exames clínicos, eletrocardiográficos, radiológicos, sorológicos, xenodiagnósticos e outros exames laboratoriais seriados, foi feito em 510 pacientes com sorologia positiva para doença de Chagas, procedentes de vários Estados do Brasil e observados no Rio de Janeiro a partir de 1960. Os pacientes foram classificados, de acordo com a forma clínica, em assintomáticos (forma indeterminada, cardíacos, portadores de "megas" ou com formas clínicas associadas. Foi observada uma prevalência de cardiopatia em 52,1% dos pacientes, de "megas" em 14,3% e de associação entre cardiopatia e "megas" em 10,7% e entre megaesôfago e megacolon em 10,9% dos casos. A forma indeterminada (assintomática foi observada em 39% dos pacientes. A proporção de casos de cardiopatia aumentou progressivamente da 1ª a 5ª décadas de vida, enquanto a dos "megas" continuou aumentando até a 7ª década. Entretanto, em número de casos o pico de ambas as formas ocorreu na 4ª década. Não houve diferenças significativas de formas clínicas com relação ao sexo, apesar de uma discreta predominância de cardiopatia no sexo masculino e de "megas" no sexo feminino. Com relação à raça, entre os pacientes classificados como brancos, pretos e mestiços, não foi possível determinar a significância entre as diversas formas clínicas, por desconhecimento da constituição do universo da procedência de cada paciente. Embora o reduzido número de casos não possa ser considerado como representativo da prevalência das fomas clínicas nas regiões de origem dos pacientes, tomando-se os quatro Estados representados com maior número de casos, verificou-se que as proporções de cardiopatia e "megas" foram respectivamente de 65,7 e 20,1% nos casos procedentes da Bahia, de 55,7 e 14,7% nos de Minas Gerais, de 50,9 e 15% nos de Pernambuco e de 23,3 e 0% nos procedentes da Paraíba. O reduzido número de casos procedentes dos demais

  9. Características de los cuidadores de niños con cardiopatías congénitas complejas y su calidad de vida Características dos cuidadores de crianças com cardiopatias congênitas complexas e sua qualidade de vida Characteristics of care takers for children with complex congenital heart defects and the quality of life of the former

    Directory of Open Access Journals (Sweden)

    ELIZABETH ROMERO MASSA

    2010-06-01

    Full Text Available Objetivo: establecer la relación entre las características y la calidad de vida de los cuidadores familiares de niños con cardiopatías congénitas. Método: estudio analítico transversal. Se midió la calidad de vida con el instrumento propuesto por Ferrell et ál. (1997, "Medición de la calidad de vida de un miembro familiar que brinda cuidados a un paciente". Los cuidadores se caracterizaron con la encuesta "Caracterización de los cuidadores", diseñada por el grupo de Cuidado al Paciente Crónico, de la Universidad Nacional de Colombia. Para estimar la asociación entre las características de los cuidadores y las dimensiones de la calidad de vida se utilizó el análisis a través de los intervalos de confianza, considerando una diferencia de promedios significativa aquella en la cual que su intervalo de confianza no pasa por 0. Resultados: participaron 91 cuidadores familiares principales de niños con cardiopatías congénitas complejas de la ciudad de Cartagena. Incluyen la asociación entre las características de los cuidadores y los cuatro aspectos del bienestar que evalúan la calidad de vida según Ferrel. Las características que mostraron mayor asociación con las dimensiones de la calidad de vida fueron edad, nivel socioeconómico, tiempo de cuidado y ser único cuidador. Conclusiones: al asociar las características de los cuidadores con la calidad de vida de los mismos se encontró que el nivel socioeconómico y ser único cuidador guarda asociación con el bienestar psicológico reportado, mientras que ser único cuidador se asocia en forma significativa con la dimensión social.Objetivo: estabelecer a relação entre as características e a qualidade de vida dos cuidadores familiares de crianças com cardiopatias congênitas. Método: estudo analítico transversal. A qualidade de vida foi medida mediante o instrumento proposto por Ferrell et ál. (1997, "Medição da qualidade de vida de um membro familiar que cuida de

  10. 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)

  11. Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia

    NARCIS (Netherlands)

    Bonioli, Eugenio; Hennekam, Raoul C.; Spena, Gianantonio; Morcaldi, Guido; Di Stefano, Antonio; Serra, Giovanni; Bellini, Carlo

    2005-01-01

    We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal lymphangiectasia. The association of intestinal lymphangiectasia and aplasia cutis, and the association

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

    Science.gov (United States)

    ... 20 [updated 2013 Oct 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  13. 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.

  14. 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.

  15. 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

  16. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  17. Redução do período de internação e de despesas no atendimento de portadores de cardiopatias congênitas submetidos à intervenção cirúrgica cardíaca no protocolo da via rápida The reduction in hospital stay and costs in the care of patients with congenital heart diseases undergoing fast-track cardiac surgery

    Directory of Open Access Journals (Sweden)

    Alfredo Manoel da Silva Fernandes

    2004-07-01

    Full Text Available OBJETIVO: Avaliar o atendimento de cardiopatas congênitos e cardiopatas isquêmicos submetidos à cirurgia cardíaca no protocolo de atendimento na via rápida (fast-track recovery em relação ao convencional. MÉTODOS: Avaliada a movimentação de 175 pacientes, 107 (61% homens e 68 (39% mulheres, idades entre 0,3-81 anos nas diferentes unidades hospitalares. RESULTADOS: A taxa de alta das diferentes unidades hospitalares por unidade de tempo, dos cardiopatas congênitos atendidos no protocolo da via rápida em relação ao convencional foi: a 11,3 vezes a taxa de alta quando assistidos no protocolo da via convencional, quanto ao tempo de permanência no centro cirúrgico; b 6,3 vezes quanto à duração da intervenção cirúrgica; c 6,8 vezes quanto à duração da anestesia; d 1,5 vezes quanto à duração da perfusão; e 2,8 vezes quanto à permanência na unidade de recuperação pós-operatória I; f 6,7 vezes quanto à permanência no hospital (período de tempo entre a data da internação e a data da alta; g 2,8 vezes quanto à permanência na unidade de internação pré-operatória; h 2,1 vezes quanto à permanência na unidade de internação após a alta da recuperação pós-operatória; i associada com redução de despesas pré e pós-operatórias. A diferença não foi significativa nos portadores de cardiopatia isquêmica. CONCLUSÃO: Verificou-se redução do período de internação e de despesas no atendimento dos pacientes submetidos à intervenção cirúrgica cardíaca no protocolo da via rápida.OBJECTIVE: To assess the care provided to patients with congenital heart diseases and ischemic heart diseases undergoing cardiac surgery according to the fast-track recovery protocol compared with those undergoing the conventional procedure. METHODS: The transfer of patients from one hospital unit to another was assessed for 175 patients, 107 (61% men and 68 (39% women, with ages ranging from 0.3 to 81 years. RESULTS: The

  18. Analysis of the relationship cost-effectiveness of the myocardial gammagraphy studies and the impact to the total expenditure by diagnostic of ischemic cardiopathy; Analisis de la relacion costo-efectividad de los estudios de gamagrafia miocardica e impacto al gasto total por diagnostico de cardiopatia isquemica

    Energy Technology Data Exchange (ETDEWEB)

    Valenzuela F, A.G.; Perez C, J.P. [Servicio de Cardiologia Nuclear, Hospital cardiologia CMN, IMSS, Mexico D.F. (Mexico); Arreola O, H. [Fundacion Mexicana para la Salud, Mexico D.F. (Mexico); Valenzuela F, A.A. [Unidad de Epidemiologia Hospitalaria, IMSS, Mexico D.F. (Mexico); Soto M, H. [UAEM, Toluca, Estado de Mexico (Mexico); Arguero S, R. [Director del Hospital de Cardiologia, IMSS, Mexico D.F. (Mexico)

    2005-07-01

    Recent advances in pharmacology, diagnostic and invasive procedures provide a series of modalities that diminish the morbidity and increase the long term survival in the patients that have suffered a heart attack to myocardium. The stratification by risk is an essential element for the handling of the survivors of heart attack to myocardium. In their attention it is looked for to optimize the therapeutic benefit, to diminish the unnecessary diagnostic and therapeutic procedures and to improve the efficiency. For example, a coronariography in sick with heart attack to myocardium it is not cost-effective if not is clinically suitable. Of there that from the institutional point of view, this is, of the Mexican Institute of the Public Health, they are required of appropriate reference approaches and counter reference to grant to the sick person, the best service that is the one in this case the diagnostic and the handling of the ischemic cardiopathy with the smallest waste of resources. The estimation of the annual survival is the base of the stratification, it constitutes the angular stone of the early handling of the heart attack to myocardium. The goal for the clinical would be to identify patients with intermediate risk, since, this risk makes them candidates to therapy interventionist. As long as those with low risk won't require intervention. This would allow the decrease of rates by revenues of heart attack to myocardium, and therefore to diminish the hospital staying rates. The Nuclear Cardiology (myocardial gammagraphy) it is not the only invasive method available to evaluate the myocardial perfusion in sick in who coronary illness is suspected. When the myocardial gammagraphy is carried out in appropriate population, the cost it diminishes because it restricts the necessity of additional invasive evaluations. This because the nuclear cardiology has predictive value so much for the mortality like to detect myocardial viability. Based on these

  19. Case Report Case Report

    African Journals Online (AJOL)

    User

    2013-03-26

    Mar 26, 2013 ... c Medicine and Palliative Cancer Care: A Case Report. Sanjoy Kumar Pal ... us complementary and alternative therapies for treatment about the .... controlled trials that homeopathy may be effective for the treatment of ...

  20. Caso Clínico ARP Nº9: Cardiomiopatia Hipertrofica e Cardiopatia Isquémica

    OpenAIRE

    Marques, Hugo

    2017-01-01

    Caso 1 / A70 anosEcg com alterações da repolarização ventricularEcocardiograma com má janela.Queixas de precordialgia atípica.Cardiomiopatia hipertrofica apical com aneurisma apical (burn out ápex). A HCM apical é difícil de diagnosticas por ecocardiograma. Alterações da repolarização são frequentes.Caso 2 / B55 anosInternamento há 2 meses com dor precordial, ligeiro aumento das troponinas e discinésia ventricular esquerda apical. Fez cateterismo com coronarias normais.Por ausência de recuper...

  1. Lesão bilateral dos óstios coronários na sífilis cardiovascular: relato de caso Bilateral ostial coronary lesion in cardiovascular syphilis: case report

    Directory of Open Access Journals (Sweden)

    Mauricio de Nassau Machado

    2008-03-01

    Full Text Available A sífilis é uma doença infecciosa que se desenvolve em estágios e pode acometer o sistema cardiovascular e neurológico. Em 30% dos pacientes não tratados, a sífilis desenvolve sua forma terciária. Relatamos o caso de um homem de 46 anos, admitido por edema pulmonar agudo por cardiopatia isquêmica com bloqueio completo do ramo esquerdo, submetido a terapia fibrinolítica com sucesso. Angiografia coronária mostrou lesão ostial de 90% na artéria coronária esquerda e oclusão do óstio da artéria coronária direita. Os títulos de VDRL foram de 1/128. O paciente foi submetido a revascularização do miocárdio e recebeu alta após tratamento antibiótico com penicilina cristalina.Syphilis is an infectious disease occurring through a series of frequently overlapping stages. It can impair the cardiovascular and neurological system. In 30% of the non treated patients, syphilis develops your tertiary form. We report a case of a 46-year-old male patient admitted due to edema pulmonary and acute coronary syndrome with left bundle branch block, submitted to fibrinolytic therapy successfully. Coronary angiography showed a 90% ostial lesion of left main coronary artery and occlusion of the right coronary artery ostium. VDRL was titrated to 1/128. The patient was undergone to CABG and was discharged after treatment with crystalline penicillin.

  2. Case management.

    Science.gov (United States)

    Woodward, Judy; Rice, Eve

    2015-03-01

    Health care in the United States is changing rapidly under pressure from both political and professional stakeholders, and one area on the front line of required change is the discipline of case management. Historically, case management has worked to defragment the health care delivery system for clients and increase access to health care. Case management will have an expanded role resulting from Affordable Care Act initiatives to improve health care. This article includes definitions of case management, current issues related to case management, case management standards of practice, and a case study of the management of pediatric chronic disease. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Avaliação pulmonar em crianças portadoras de cardiopatia congênita acianótica e hiperfluxo pulmonar através de tomografia computadorizada Evaluación pulmonar en niños portadores de cardiopatía congénita acianótica e hiperflujo pulmonar a través de tomografía computadorizada Computed tomography in pulmonary evaluation of children with acyanotic congenital heart defect and pulmonary hyperflow

    Directory of Open Access Journals (Sweden)

    Solange Gimenez

    2009-10-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: Disfunção respiratória é frequente em crianças com cardiopatias congênitas acianóticas com hiperfluxo pulmonar (CCAHP, porém pouco é conhecido sobre a estrutura pulmonar destes pacientes. O objetivo deste estudo foi quantificar os volumes de gás e tecido e a distribuição da aeração pulmonar nesta população. MÉTODOS: Após aprovação do Comitê de Ética institucional e obtenção do consentimento escrito pós-informado, foram obtidas tomografias computadorizadas torácicas em sete crianças com CCAHF. As imagens pulmonares direita e esquerda foram contornadas em todas as imagens e os volumes e pesos pulmonares foram computados a partir dos dados volumétricos. As comparações entre esquerda e direita foram analisadas usando teste t de Student pareado e as correlações através de regressão exponencial. RESULTADOS: A idade mediana foi 20 meses e o peso foi de 9,9 kg. Volume pulmonar total (VPT foi de 66,7 ± 23,1 mL.kg-1, o de tecido 33,5 ± 15,7 mL.kg-1 e o de gás 33,1 ± 8,3 mL.kg-1. O pulmão direito representou 57,9% e o pulmão esquerdo 42,1% do VPT (p JUSTIFICATIVA Y OBJETIVOS: La disfunción respiratoria es frecuente en niños con cardiopatías congénitas acianóticas con hiperflujo pulmonar (CCAHP, sin embargo, se conoce muy poco sobre la estructura pulmonar de esos pacientes. El objetivo de este estudio, fue cuantificar los volúmenes de gas y tejido y la distribución de la aeración pulmonar en esa población. MÉTODOS: Después de la aprobación por parte del Comité de Ética Institucional y de la obtención del consentimiento escrito informado, se obtuvieron tomografías computadorizadas torácicas en siete niños con CCAHF. Las imágenes pulmonares derecha e izquierda fueron perfiladas en todas las imágenes, y los volúmenes y los pesos pulmonares fueron computados a partir de los datos volumétricos. Las comparaciones entre izquierda y derecha fueron analizadas usando el test t de

  4. Casing study

    Energy Technology Data Exchange (ETDEWEB)

    Roche, P.

    2000-12-01

    An unorthodox method of casing drilling used by Tesco Corporation at a gas well in Wyoming to drill deeper using casings as drillpipe is discussed. The process involves either rotating the casing as drill string or using a downhole mud motor to rotate the bit. In this instance, the surface hole and the production hole were casing-drilled to a record 8,312 feet by rotating the casing. The 8 1/2-inch surface hole was drilled with 7-inch casing to 1,200 feet using a Tesco underreamer and a polycrystalline pilot bit; drilling and cementing was completed in 12 1/2 hours. The 6 1/4-inch production hole was drilled with 4 1/2-inch casing and the bottomhole assembly was retrieved after 191 hours rotating. This case was the first in which the entire well was casing-drilled from surface to TD. Penetration rate compared favorably with conventional methods: 12 1/2 hours for casing-drilling to 18.9 hours for conventional drilling, despite the fact that the casing-drilling technology is still in its infancy. It is suggested that casing-drilling has the potential to eliminate the need for the drillpipe entirely. If these expectations were to be realised, casing-drilling could be one of the most radical drilling changes in the history of the oil and gas industry. 1 photo.

  5. Case series

    African Journals Online (AJOL)

    abp

    2013-06-20

    Jun 20, 2013 ... ... by a persistent neurological deficit in 2 cases, and infection in 2 cases controlled ... Upper cervical spine injuries are frequent due to increasing number .... the patient; it also takes more time for fracture healing and expose.

  6. Case series

    African Journals Online (AJOL)

    ebutamanya

    2015-01-29

    Jan 29, 2015 ... for tinnitus (Table 1). The otomicroscopic examination shows: central non marginal perforation in 29 patients, posterior perforation in 17 patients and anterior perforation in 14 patients. The tympanic cavity was dry in 27 cases, wet in 18 cases and inflammatory in the. 15 remaining cases. The conralateral ear ...

  7. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-02-12

    Feb 12, 2015 ... Abstract. Vaginal metastasis from pancreatic cancer is an extreme case and often indicates a poor prognosis. We present a case of pancreatic carcinoma with metastasis to the vagina that was discovered by vaginal bleeding. To our knowledge, this is the third case in the world of a primary pancreatic.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2002-07-01

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

  9. Case report

    African Journals Online (AJOL)

    abp

    8 mai 2013 ... subsequent conception and placenta accreta: a case report. American Journal of Obstetrics and Gynecology. September. 2012; 207(3 ) : e7-e8. PubMed | Google Scholar. 5. Umashankar T, Patted S, Handigund R. Endometrial osseous metaplasia: Clinicopathological study of a case and literature review.

  10. Case report

    African Journals Online (AJOL)

    abp

    2015-08-31

    Aug 31, 2015 ... Dual intersection syndrome of the forearm: a case report. Bouchra Zhari1,& ... We reported a case of a 60-year-old man presented to our formation with painful swelling on .... With a fiddling clinical observation and diagnosis.

  11. Case law

    International Nuclear Information System (INIS)

    2016-01-01

    This section treats of the following case laws: 1 - Case Law France: Conseil d'etat decision, 22 February 2016, EDF v. Republic and Canton of Geneva relative to the Bugey nuclear power plant (No. 373516); United States: Brodsky v. US Nuclear Regulatory Commission, 650 Fed. Appx. 804 (2. Cir. 2016)

  12. Case law

    International Nuclear Information System (INIS)

    2015-01-01

    This section treats of the two following case laws: Slovak Republic: Further developments in cases related to the challenge by Greenpeace Slovakia to the Mochovce nuclear power plant; United States: Judgment of the Nuclear Regulatory Commission denying requests from petitioners to suspend final reactor licensing decisions pending the issuance of a final determination of reasonable assurance of permanent disposal of spent fuel

  13. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-10-09

    Oct 9, 2015 ... Aguas SC, Quarracino MC, Lence AN, Lanfranchi-Tizeira HE. Primary melanoma of the oral cavity: ten cases and review of. 177 cases from literature. Medicina oral, patologia oral y cirugia bucal. 2009;14(6):E265-71. PubMed | Google. Scholar. 6. Rapidis AD, Apostolidis C, Vilos G, Valsamis S. Primary.

  14. Case series

    African Journals Online (AJOL)

    ebutamanya

    2016-04-27

    Apr 27, 2016 ... Laparoscopic surgery for groin hernia in a third world country: a report of 9 cases of ... Concerning mesh repair, the (open) LICHENSTEIN and laparoscopic inguinal hernia techniques are ... Two cases were bilateral, 5 unilateral and all of them primary. ... In Africa, This approach is still marginal; few studies.

  15. Case report

    African Journals Online (AJOL)

    ebutamanya

    28 août 2015 ... (intra-osseous synovial cyst) Clinical and therapeutic aspect: case report. Chir Main. 2009 Feb; 28(1):37-41. PubMed |. Google Scholar. 10. Chantelot C, Laffargue P, Masmejean E, Peltier B, Barouk P,. Fontaine C. Fracture of the scaphoid carpal bone secondary to an intraosseous cyst: apropos of a case.

  16. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-01-21

    Jan 21, 2015 ... Published in partnership with the African Field Epidemiology Network (AFENET). (www.afenet.net). Case report. Open Access ... La quantité de tissu neural immature permet d'établir une classification .... Wu X, Han LY, Xu X, Li Z. Recurrent immature teratoma of the ovary: a case report of radical secondary ...

  17. Case Report

    African Journals Online (AJOL)

    the kidney could still be transplanted successfully. We describe a case of high ureteric injury during multi-organ recovery and successful implantation using a Boari flap ureterocystostomy. Case Report. The donor kidney was procured from a 55-year-old male brain stem deceased donor following intra-cerebral hemorrhage.

  18. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-12-04

    Dec 4, 2015 ... was made, while maintaining of valproic acid and clonazepam.This combination allowed a partial remission, allowing a best level of adaptation, it has been maintained. The clozapine has not been tried in this case. Discussion. This case illustrates the presentation of Schizophrenia characterized.

  19. Case series

    African Journals Online (AJOL)

    abp

    2017-07-13

    Jul 13, 2017 ... Its purpose is to assess the clinical and ... Other circumstances of discovery were atrial fibrillation, ... ventricular pacing (9.1%) and blood pressure intolerance to stress ... The mitral flow was a ... anterior mitral valve's pillar was found in one case with a left ... with a stop at the first level in another case.

  20. Case report

    African Journals Online (AJOL)

    raoul

    2011-10-20

    Oct 20, 2011 ... Abstract. A 22-year old man was bitten by a snake on his scrotum. This interesting and unusual case occurred in the rural area of District Aligarh, India. The uniqueness of the case lies in the fact that scrotum is an extremely rare and unusual site for snake bite. Further, with negligible local signs of.

  1. case series

    African Journals Online (AJOL)

    Administrator

    Key words: Case report, case series, concept analysis, research design. African Health Sciences 2012; (4): 557 - 562 http://dx.doi.org/10.4314/ahs.v12i4.25. PO Box 17666 .... According to the latest version of the Dictionary of. Epidemiology ...

  2. CASE STUDY

    African Journals Online (AJOL)

    HIV infection has several oral manifestations, including oral candidiasis and oral hairy leucoplakia. Occasionally unusual presentations requiring rigorous investigations are seen, and in these cases the diagnosis sometimes remains a dilemma owing to limited investigation facilities.1-3 We present the case of a patient who.

  3. Case Report

    African Journals Online (AJOL)

    Sarra

    failure and/or per vaginum (PV) leaN of dialysate. Case report: A ... had PV leaN of the dialysate that was misinterpreted by the .... as part of the management of this infection. On the .... case, we believe that laparoscopy represents a good tool.

  4. Case series

    African Journals Online (AJOL)

    abp

    30 mai 2017 ... All patients underwent systematic plaster immobilization for a period of ... On average, nails were removed after about 6 ... cases), osteitis associated with material (2 cases), refracture (3 ... Although intramedullary nailing ideally is an osteosynthesis ..... intramedullary fixation of pediatric forearm fractures.

  5. Clinical cases

    International Nuclear Information System (INIS)

    Servente, L.

    2012-01-01

    This presentation is about clinical cases and the contribution of the PET - CT Fag application in the diagnosis and treatment of different types of cancer. The cases presented were: neck diseases, epidermoid carcinoma, liver damage and metastasize, lymphoma, thrombosis, colonic cancer and lung disease

  6. Case report

    African Journals Online (AJOL)

    abp

    2015-08-13

    Aug 13, 2015 ... Middle East, Mediterranean region, Central Europe, Australia and. South America) [1, 2]. The incidence of musculoskeletal echinococcosis including involvement of subcutaneous tissue is 1%-. 5.4% among all cases of hydatid disease [2]. In this report, we present a case of recurrent hydatid cysts involving ...

  7. Case report

    African Journals Online (AJOL)

    abp

    2016-02-08

    Feb 8, 2016 ... pituitary metastases can be characteristic and evocative but in no case pathognomic. The diabetes insipidus is the most common clinical manifestation of the disease [2, 3]. We report herein a case of an acute adrenal insufficiency revealing pituitary metastases of lung cancer. Patient and observation.

  8. Clinical case

    International Nuclear Information System (INIS)

    Garcia Fontes, M

    2012-01-01

    This presentation is about a case of a patient with liver tumor. The ultrasound scan and Tc technique were used for the diagnosis and treatment. The application of PET - CT FDG contributed to detect peripheral cholangiocarcinoma, the lymph node distance to guide the therapeutic and the recurrence in case of a negative morphological methods.

  9. Caso para diagnóstico Case for diagnosis

    Directory of Open Access Journals (Sweden)

    Cristina Paula Salaro

    2011-08-01

    Full Text Available Paciente do sexo masculino de 55 anos com placas e nódulos infiltrados exuberantes em membro inferior esquerdo há seis meses. Cardiopatia, nefropatia e endocrinopatia associadas. O exame histopatológico, acrescido da imunoistoquímica, confirma linfoma cutâneo difuso de células B. Marcadores CD-20, CD-79a e Ki-67 foram positivos. A quimioterapia com ciclofosfamida, adriamicina e vincristina promoveu remissão parcialA fifty-five year old Caucasian male presented with infiltrated plaques and nodules on the left leg. The lesions had been present for 6 months. He presented associated cardiopathy, nephropathy and endocrinopathy. Histopathological and immunohistochemical examinations confirmed the diagnosis of cutaneous diffuse B cell lymphoma. CD 20, CD 79a and Ki-67 were positive. Chemotherapy with cyclophosphamide, adriamycin and vincristine promoted partial remission

  10. Case - Case-Law - Law

    DEFF Research Database (Denmark)

    Sadl, Urska

    2013-01-01

    Reasoning of the Court of Justice of the European Union – Constr uction of arguments in the case-law of the Court – Citation technique – The use of formulas to transform case-law into ‘law’ – ‘Formulaic style’ – European citizenship as a fundamental status – Ruiz Zambrano – Reasoning from...

  11. Dermatology case

    Directory of Open Access Journals (Sweden)

    Catarina Lacerda

    2017-11-01

    Full Text Available Aims: To report a case of uncharacteristic presentation of Parvovirus B19. This virus causes some atypical cutaneous rash such as papular-purpuric “gloves and socks” syndrome which is a rare entity, self-limited and resolves spontaneously to cure. Case Report: Authors describe a case of a six-year-old boy who went to the Emergency Department with a cutaneous rash initially on a finger and then mouth, hands and feet followed by fever. He fully recovered without sequelae. Conclusions: It is important to consider this agent as a possible responsible for atypical purpuric rash.

  12. Dermatology case

    Directory of Open Access Journals (Sweden)

    Fernando Mota

    2017-07-01

    In the present case, the patient was referred to the dermatology department due to an atypical lesion with an uncommon location, revealing the importance of a whole body examination in patients with this disease.

  13. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-10-14

    Oct 14, 2015 ... &Corresponding author: Hanane Massit, Department of Gastroenterology II, Mohamed V ... Crohn's disease, accounting for around 30-50 % of cases, its ... manuscript and have equally contributed to its content and to the.

  14. Case report

    African Journals Online (AJOL)

    abp

    2013-01-09

    . The electrolytes analysis revealed an acute hyponatremia. (sodium concentration 125 mmol/L). Medical treatment consisted of hypertonic saline solution 3%, volume expansion, intubation and ventilation. The presented case ...

  15. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-01-06

    Jan 6, 2015 ... optic disc edema and subsequent formation of a macular star [1]. (Figure 1). ... case of bilateral stellate neuroretinitis due to pheochromocytoma. ... clinical examination are irreplaceable, powerful diagnostic tools that.

  16. Case series

    African Journals Online (AJOL)

    abp

    2017-05-16

    May 16, 2017 ... Hepatocellular carcinoma: a clinicopathological study of 64 cases ... The presenting clinical symptoms were dominated by abdominal pain (n=34), followed by .... malaise, anorexia or weight loss and nausea or vomiting [4].

  17. Case report

    African Journals Online (AJOL)

    abp

    2017-10-10

    Oct 10, 2017 ... A rare case of important and recurrent abnormal uterine bleeding ... 1Department of Obstetrics and Gynecology, University Hospital of Yopougon, Abidjan, Ivory Coast, .... imaging (MRI) could guide us to the diagnosis.

  18. Case Report

    African Journals Online (AJOL)

    Administratör

    Uterus at 17 Weeks of Amenorrhea: Case Report and Literature. Review ... no bleeding but the patient was noted to have ... urinary tract abnormalities are frequent in ... of MRI [6]. Laparoscopy allows formal confirmation of this type of uterine.

  19. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-01-07

    Jan 7, 2015 ... Synchronous malignant renal mass in patient with a Lung cancer: case report and literature ... management and prognosis [4]. Patient and ... classed stage I. The patient got chemo radiotherapy for the lung cancer using ...

  20. Case series

    African Journals Online (AJOL)

    ebutamanya

    2016-06-02

    Jun 2, 2016 ... Epidemiological aspects of suicide attempts among Moroccan children .... Poorly drug intoxication was found in 25% of cases and included over 10 tablets in ... factors have been identified such as maltreatment, sexual abuse.

  1. Case report

    African Journals Online (AJOL)

    abp

    2017-12-13

    Dec 13, 2017 ... nodules measuring 10-6cm, erythematous, purple color, painful at mobilization ... After multi-disciplinary concertation a ... of view than positivity of AR. In contrast ... Katagiri Y, Ansai S. Two cases of cutaneous apocrine ductal.

  2. Case Report

    African Journals Online (AJOL)

    Hamid

    Key words: Case report, composite resin, fiber-reinforced composite. ABSTRACT. A variety of ... investigation will be required to provide additional information on the survival of directly-bonded anterior fixed prosthesis made with FRC systems.

  3. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-11-27

    Nov 27, 2015 ... systemic lupus erythematosus nor other connective tissue disease. Pregnancy was ... day of life, platelet level dropped to 20 x 109/L. The newborn has received platelet ... cases of aplastic anemia or hemolytic anemia [6,7].

  4. Case Report

    African Journals Online (AJOL)

    of permanent hemodialysis (HD) vascular access ... This catheter was removed and a translumbar dialysis ... In this case report, we describe a patient with the ... Rheumatology, the isolated detection of antiphospholipid .... Arthritis Rheum.

  5. Case report

    African Journals Online (AJOL)

    abp

    2016-07-20

    Jul 20, 2016 ... Brain abscess caused by streptococcus constellatus are very rarely ... We present a rare case of a left-sided thalamic abscess caused by streptococcus ... examination showed that the patient was lethargic and had right-.

  6. Case report

    African Journals Online (AJOL)

    abp

    2013-10-17

    Oct 17, 2013 ... We are reporting a case of hemoperitoneum followed by early post partum collapse due to bleeding ... diagnosis of postpartum hemoperitoneum after a vaginal delivery ... The patient was reviewed two weeks after discharge.

  7. Case report

    African Journals Online (AJOL)

    abp

    2012-05-13

    May 13, 2012 ... Missed opportunity for tuberculosis case detection in household contacts in a high ... Maywood, IL, USA, 4College of Public Health, University of Georgia, ... This is an Open Access article distributed under the terms of the ...

  8. Case report

    African Journals Online (AJOL)

    abp

    2017-11-07

    Nov 7, 2017 ... However, auricular disorders are rare and exceptionally inaugural. We describe the case of ... hypothalamic-pituitary axis dysfonction. There was ... tomography, and the salivary gland biopsy confirmed the diagnosis by finding ...

  9. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-03-03

    translucent, hyper-or hypopigmented or erythematous-to- violaceous in color. In addition, epidermal changes may be absent or include atrophy, hyperkeratosis, or telangiectasia [2]. In our case the diagnosis of cutaneous sarcoidosis is ...

  10. Case report

    African Journals Online (AJOL)

    raoul

    2012-02-22

    Feb 22, 2012 ... cancer. Case report. Written informed consent was obtained from the patient for ... colon and rectum (12 patients), uterus (8 patients), ovary (5 patients), head and neck (tongue, pharynx, larynx, nasal cavity, and mandible) (5 ...

  11. Anestesia para correção cirúrgica de blalock-taussig e implante de marca-passo em adulto portador de ventrículo único: relato de caso Anestesia para corrección quirúrgica de blalock-taussig e implante de marcapaso en adulto portador de ventrículo único: relato de caso Anesthesia for blalock-taussig shunt and pacemaker placement in an adult patient with univentricular heart: case report

    Directory of Open Access Journals (Sweden)

    Michelle Nacur Lorentz

    2008-06-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: O ventrículo único é uma cardiopatia complexa rara e grave, sem possibilidade de tratamento cirúrgico curativo, associada à alta mortalidade durante a primeira infância. O objetivo desse artigo foi descrever um caso raro de paciente adulto com ventrículo único não-operado que se internou para realização de valvoplastia pulmonar via hemodinâmica e acabou sendo submetido à cirurgia de Blalock-Taussig modificado e implante de marca-passo epicárdico. Teve como objetivo complementar chamar a atenção para as particularidades anestésicas do paciente adulto portador de cardiopatia congênita não-corrigida. RELATO DO CASO: Paciente de 34 anos, 60 kg, portadora de cardiopatia congênita complexa tipo ventrículo único, estenose infundibulovalvar pulmonar importante e hipertensão pulmonar moderada. Admitida no hospital sem condições de correção cirúrgica e com história pregressa de várias sangrias terapêuticas para tratamento de policitemia. Foi internada devido a piora da hipoxemia, um episódio de síncope e bloqueio atrioventricular total (BAVT de início recente. À internação apresentava estabilidade hemodinâmica, freqüência cardíaca de 42 bpm, SpO2 de 73%, cianose central e de extremidades e pressão arterial de 120 × 70 mmHg. Foi proposta a realização de cateterismo e valvoplastia pulmonar via hemodinâmica. Por causa da impossibilidade de realização dessa técnica com sucesso, foi indicada a realização de cirurgia de Blalock-Taussig com implante de marca-passo. O procedimento foi realizado no dia seguinte sem intercorrências e a paciente teve alta hospitalar sete dias após o procedimento cirúrgico com SpO2 de 85%, hematócrito de 49% e melhora da dispnéia. CONCLUSÕES: O sucesso do procedimento anestésico para correção cirúrgica de cardiopatia congênita complexa demanda conhecimento da fisiopatologia da doença, bem como das particularidades inerentes à técnica anest

  12. Case series

    African Journals Online (AJOL)

    abp

    7 avr. 2016 ... HTA were complicated by heart disease in 24% of cases and by renal disease in 20% of cases ... of clinical specificity. It is not unusual for HTA to be the only manifestation of the disease. In our study we .... Le syndrome de Cushing reste une cause rare d'HTA, sa prévalence dans des centres spécialisés en ...

  13. Casing drilling

    Energy Technology Data Exchange (ETDEWEB)

    Heenan, D. [Tesco Corp., Calgary, AB (Canada)

    2003-07-01

    This paper reviewed the experience that Tesco has gained by drilling several wells using only casings as the drill stem. Tesco has manufactured a mobile and compact hydraulic drilling rig called the Casing Drilling {sup TM} system. The system could be very effective and efficient for exploration and development of coalbed methane (CBM) reserves which typically require extensive coring. Continuous coring while drilling ahead, along wire line retrieval, can offer time savings and quick core recovery of large diameter core which is typically required for exploration core desorption tests. The proposed system may also have the potential to core or drill typically tight gas sands or underbalanced wells with air or foam. This would reduce drilling fluid damage while simultaneously finding gas. Compared to conventional drill pipes, Casing Drilling {sup TM} could also be effective with water production from shallow sands because of the smaller annual clearance which requires less air volumes to lift any produced water. 9 figs.

  14. Case Report

    DEFF Research Database (Denmark)

    Bilgin-Freiert, Arzu; Fugleholm, Kåre; Poulsgaard, Lars

    2015-01-01

    We report a case of an intraneural ganglion cyst of the hypoglossal canal. The patient presented with unilateral hypoglossal nerve palsy, and magnetic resonance imaging showed a small lesion in the hypoglossal canal with no contrast enhancement and high signal on T2-weighted imaging. The lesion...... irradiation as an option. This case illustrates a very rare location of an intraneural ganglion cyst in the hypoglossal nerve. To our knowledge there are no previous reports of an intraneural ganglion cyst confined to the hypoglossal canal....

  15. Case law

    International Nuclear Information System (INIS)

    2012-01-01

    This section gathers the following case laws: 1 - Canada: Judicial review of Darlington new nuclear power plant project; Appeal decision upholding criminal convictions related to attempt to export nuclear-related dual-use items to Iran: Her Majesty the Queen V. Yadegari; 2 - European Commission: Greenland cases; 3 - France: Chernobyl accident - decision of dismissal of the Court of Appeal of Paris; 4 - Slovak Republic: Aarhus Convention compliance update; 5 - United States: Judgement of a US court of appeals upholding the NRC's dismissal of challenges to the renewal of the operating licence for Oyster Creek Nuclear Generating Station; reexamination of the project of high-level waste disposal site at Yucca Mountain

  16. 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.

  17. Case report

    African Journals Online (AJOL)

    abp

    2015-11-23

    Nov 23, 2015 ... found the presence of deletion of ELN locus, compatible with. Williams-Beuren syndrome. The diagnosis of Williams-Beuren syndrome was made, and the patient is under observation, with a decline of eight months. Discussion. This paper is about an original case of Williams-Beuren syndrome associated ...

  18. Case series

    African Journals Online (AJOL)

    ebutamanya

    10 déc. 2015 ... 5. Chandler JR, Langenbrunner DJ, Stevens ER. The Pathogenesis. Of Orbital complications in acute sinusitis. Laryngoscope. 1970. Sep; 80(9): 1414-28. PubMed | Google Scholar. 6. Hodges E, Tabbara KF. Orbital cellulitis: review of 23 cases from Saudi Arabia. Br J Ophthalmol. 1989 Mar; 73(3): 205-8.

  19. Case report

    African Journals Online (AJOL)

    abp

    2012-06-11

    Jun 11, 2012 ... Abstract. Churg Strauss syndrome is a rare systemic and pulmonary vasculitis exceptionally associated with AA amyloidosis. We report the case of a 65-year old woman with past medical history of asthma. She developed polyarthralgia, headache and purpura. A laboratory workout found hypereosinophilia ...

  20. Case report

    African Journals Online (AJOL)

    ebutamanya

    2016-04-14

    Apr 14, 2016 ... Abstract. Laparoscopic management of acute adhesive small bowel obstruction has been shown to be feasible and advantageous. However, widespread acceptance and application is still not observed. We describe the case report of a 58-year-old male who presented with signs and symptoms of.

  1. Case report

    African Journals Online (AJOL)

    abp

    and imperforate anus. Figure 3: The examination of the spinal column revealed a spina bifida occulta. References. 1. Varygin V, Bernotas S, Gurskas P, Karmanovas V, et al. Cloacal exstrophy: a case report and literature review. Medicina. 1978;. 47(12): 682-5. PubMed| Google Scholar. 2. Carey JC, Greenbaum B, Hall BD.

  2. Case report

    African Journals Online (AJOL)

    raoul

    12 août 2010 ... Estermann F, B Denis, P Gaucher, D Regent, and D Sondag. Pneumatosis cystoides of the colon: knowing how to recognize it - Apropos of 8 cases. Ann Gastroenterol Hepatol (Paris). 1994; 30(4): 151-155. This article on PubMed. 12. Pun YL, DM Russell, GJ Taggart, and DR Barraclough. Pneumatosis ...

  3. Case report

    African Journals Online (AJOL)

    abp

    un cas. Rev Chir Orthop Reparatrice. Appar Mot. 2000;86(1):98-103. PubMed | Google Scholar. 7. Nagamine N, Nohara Y, Ito E. Elastofibroma in Okinawa. A clinicopathologic study of 170 cases. Cancer. 1982;50(9):1794-.

  4. Case series

    African Journals Online (AJOL)

    abp

    14 oct. 2013 ... Nagamine N, Nohara Y, Ito E. Elastofibroma in Okinawa - A clinicopathologic study of 170 cases. Cancer. 1982;50(9):1794-. 805. PubMed | Google Scholar. 12. Schafmayer C, Kahlke V, Leuschner I, Pai M, Tepel J. Elastofibroma dorsi as differential diagnosis in tumors of the thoracic wall. Ann Thorac Surg.

  5. Case report

    African Journals Online (AJOL)

    abp

    2015-05-18

    May 18, 2015 ... Abstract. Vasa previa is a rare but clinically important obstetrical complication that can be associated with a low-lying placenta or placenta previa. We aim to present one case of vasa previa diagnosed during the placenta examination after the caesarean indicated for triple uterus scar. A 26-year-old.

  6. Case report

    DEFF Research Database (Denmark)

    Füchtbauer, Laila; Brusgaard, Klaus; Ledaal, Pål

    2015-01-01

    ey Clinical Message Vitamin D-dependent rickets type 1 VDDR-1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long-time follow-up of a case with a novel mutation including high-resolution peripheral quantitative computed tomography...

  7. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-01-14

    Jan 14, 2015 ... In addition, rare but life-threatening complications such as foreign body aspiration in the air passages may also be seen. Aspirated foreign bodies include teeth, implants, mechanical supports or materials used during procedures. We report two separate cases of aspiration risk developing during the course.

  8. Case report

    African Journals Online (AJOL)

    abp

    2013-02-19

    Feb 19, 2013 ... main disease and 70-80% stenosis of the proximal Left Anterior Descending Artery (LAD). ... He had a successful PTCA + DES stent to the LAD (Figure 3). ... In the case being presented, despite the benign appearance of the.

  9. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-02-27

    Feb 27, 2015 ... custody is an additional risk factor in the development of this complication. [4] After a dural tear, the majority of anesthesiologists, as was the case in our observation, search the epidural space in an intervertebral spacing or sus- underlying for epidural analgesia [5, 6]. However, it should be emphasized that.

  10. Case report

    African Journals Online (AJOL)

    abp

    2013-10-23

    Oct 23, 2013 ... Pyomyositis in Nodding Syndrome (NS) patient - a case report ... B0X 7072, Kampala, Uganda, 3Gulu University, Faculty of Medicine, P.O. B0X 166, Gulu, Uganda .... to pay particular attention to such children who may have.

  11. Case series

    African Journals Online (AJOL)

    abp

    2014-01-20

    Jan 20, 2014 ... Page number not for citation purposes. 1. Stroke in young adults: about 128 cases ... hypercholesterolemia, history of cigarette smoking, contraceptive intake treatment, alcohol intake, sexual ..... Carolei A, Marini C, Ferranti E, Frontoni M, Prencipe M, Fieschi. C. A prospective study of cerebral ischemia in ...

  12. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-09-10

    Sep 10, 2015 ... Abstract. To describe a case of breast cancer manifested by cerebellar syndrome and to establish a relationship between breast cancer and Paraneoplastic syndromes through the presence of anti- yo antibodies in serum and cerebrospinal fluid of a patient. Our patient was 52 years old, Multipara with 5.

  13. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-11-20

    Nov 20, 2015 ... We report a case of a farmer who has sustained of a severe hand wound due to ... open distal interphalangeal joint dislocation of the 5th finger; flexor tendons were .... biomechanical analysis and clinical application. J Orthop ...

  14. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-12-03

    Dec 3, 2015 ... surgical correction by high way by the Huntington technique or. Haultain or vaginally with the technique of Spinelli [1] - hysterectomy hemostasis remains the gold standard in case of persistent bleeding but is exceptionnel [6]. More recently the use of balloons such as Rusch or Bakri have been described in ...

  15. Case report

    African Journals Online (AJOL)

    abp

    26 avr. 2016 ... cases relating idiopathic gastric necrosis in a young patient who presented no heart failure, or particular psychological profiles (bulimia, anorexia) no venous or arterial thrombosis were found during surgical exploration during the pathological study, no toxic or bacteriological founded. Gastric necrosis is ...

  16. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-11-24

    Nov 24, 2015 ... High drug level and the absence of toxic effect (or the absence of toxic .... from the first order,"in which the extent of metabolism is directly correlated with the ... hepatocyte, the pancreatic ductuli, the glandular epithelial cells of ... cytochrome P-450 genes in diseases requiring chronic drug use. In our case ...

  17. Case report

    African Journals Online (AJOL)

    raoul

    25 sept. 2011 ... Robin A, Méry G, George JL, Maalouf T, Angioi K. Facial necrotizing fasciitis after mild trauma of the eyelid: role of nonsteroidal anti- inflammatory treatment. J Fr Ophtalmol. 2010 Oct;33(8):568-72. This article on PubMed. 6. Cornelia Poitelea, Michael J. Wearne. Periocular necrotising fasciitis--a case report.

  18. Case Report

    African Journals Online (AJOL)

    Arthritis: a Case Report. Intissar Haddiya*, Hakima Rhou, Loubna Benamar, Fatima Ezzaitouni, Rabia Bayahia, Naima. Ouzeddoun. Unit of Nephrology, Ibn Sina University Hospital, Rabat, Morocco. * Corresponding author; Unit of Nephrology, Ibn Sina University. Hospital, Rabat, Morocco; E. mail: intissarhaddiya@hotmail.

  19. Case series

    African Journals Online (AJOL)

    abp

    2017-07-14

    Jul 14, 2017 ... complications. Various methods have been used to treat these injuries, with variable results. The aim ... Soft tissue healing occurred without need for plastic surgery in all cases. ... Under general anesthesia, patients were placed in the supine .... of the ankle joint is another advantage of the ILIZAROV device.

  20. Case report

    African Journals Online (AJOL)

    abp

    2014-03-28

    Mar 28, 2014 ... Abstract. Cushing syndrome is a hormonal disorder caused by prolonged exposure of body tissue to cortisol. We report two cases of iatrogenic Cushing's syndrome in two Nigerian children following intranasal administration of aristobed-N (Betamethasone+Neomycin) given at a private hospital where.

  1. Case law

    International Nuclear Information System (INIS)

    Anon.

    1999-01-01

    This paper gives and analyses three examples of case law: decision rejecting application to close down Tomari nuclear power plant (Japan); judgement by the Supreme Administrative Court on the closing of Barsebaeck (Sweden); litigation relating to the Department of Energy's obligations under the Nuclear Waste Policy Act to accept spent nuclear fuel and high-level radioactive waste (United States). (A.L.B.)

  2. Case series

    African Journals Online (AJOL)

    abp

    4 déc. 2017 ... modify initial tumor stage in 60% of cases: upstaging in 23 patients (46%) and downstaging in ... (FDG) est injecté chez nos patients à la dose de 4 à 5 MBq/kg par ..... positron emission tomography in patients with lung cancer.

  3. Case Report

    African Journals Online (AJOL)

    through a small clinically-undetectable inguinal hernia, and may require ... conservative approach may be adopted. Case report: An 80 ... gross bilateral scrotal swelling (without cough impulse) ... Tenckhoff catheter was inserted using the open surgical technique ... role of surgery in treating dialysate leaks presenting as.

  4. case study

    African Journals Online (AJOL)

    Elton

    particularly in patients who commence ART with low CD4 counts and established opportunistic infections. IRIS results from a pathological inflammatory response to pre-existing infective, host or other antigens, alive or dead, causing clinical deterioration in HIV-infected patients after initiating ART.1 A case definition for IRIS ...

  5. Case series

    African Journals Online (AJOL)

    abp

    19 oct. 2017 ... Traitement des amyloses AL systémiques: à propos de 25 cas. Treatment of systemic AL amyloidosis: about 25 cases. Hicham Eddou1,&, Ali Zinebi1, Hicham El Maaroufi2, Mohammed Karim Moudden1, Kamal Doghmi2, Mohammed Mikdame2,. Mohammed El Baaj1. 1Service de Médecine Interne, Hôpital ...

  6. Case report

    African Journals Online (AJOL)

    ebutamanya

    15 janv. 2015 ... Les biopsies faites étaient revenues négatives. L'échographie abdominale a montré une masse au .... PubMed | Google. Scholar. 8. Nassiopoulos K, Stockhammer A, Hahnloser P, et al. Gastric leiomyoblastoma: literature review and report of a case. Rev. Med Suisse Romande .1997; 117 (2):147-150.

  7. Case report

    African Journals Online (AJOL)

    abp

    21 mai 2013 ... biopsie vaginale est revenue en faveur d'un ADK colloïde muqueux, franchement marqué par l'anti-corps anti-CK 20 .... Google Scholar. 7. Mudhar HS, Smith JH, Tidy J. Primary vaginal adenocarcinoma of intestinal type arising from an adenoma: case report and review of the literature. Int J Gynecol Pathol.

  8. CASE STUDY

    African Journals Online (AJOL)

    2011-06-02

    Jun 2, 2011 ... immunosuppression associated with HIV/AIDS puts them at a higher risk of developing oesophageal cancer. 47. CASE STUDY. A 49-year-old man was diagnosed as HIV infected, with a CD4 count of 60 cells/µl. He was started on an antiretroviral treatment regimen comprising zidovudine, lamivudine and ...

  9. Case report

    African Journals Online (AJOL)

    abp

    27 oct. 2017 ... We report the case of a menopausal woman with breast tuberculosis in order to raise concern for diagnosis. Key words: Tuberculosis, breast, diagnosis. Introduction. La tuberculose mammaire est une forme rare de la tuberculose extra-pulmonaire même dans les pays endémiques. Elle représente. 0,06 à 0 ...

  10. Case report

    African Journals Online (AJOL)

    abp

    2017-10-17

    Oct 17, 2017 ... Scholar. 2. Riccardo Campi, Sergio Serni, Maria Rosaria Raspollini,. Agostino Tuccio, Giampaolo Siena, Marco Carini et al. Robot-. Assisted Laparoscopic Vesiculectomy for Large Seminal Vesicle. Cystadenoma: a case report and review of the literature. Clinical Genitourinary Cancer. 2015; 13(5): e369-.

  11. Case series

    African Journals Online (AJOL)

    abp

    2017-09-15

    15 Ebola Virus Disease (EVD) outbreak in West Africa infected more than 28,000 persons out of which 11,000 died [20]. At the height of this outbreak, the huge load of cases and their contacts overwhelmed the response ...

  12. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-01-07

    Jan 7, 2015 ... Preeclampsia is an entity that may present from 20th week of gestation up to 48 hours postpartum and is associated with hypertension and ... The awareness of atypical cases of preeclampsia enhances early diagnosis and management which are critical to ... hypertensive disorder in previous pregnancy.

  13. Case report

    African Journals Online (AJOL)

    raoul

    28 avr. 2011 ... Spermatic cord sarcoma in adults. J Urol. 1978; 120: 301-305. This article on PubMed. 11. Romero Tenorio M, Farinas Varo JM, Baez Perez JM, Almaised J, Ramirez Chamorro R, and Beltran Ruiz-Hinestrosa M. Liposarcoma en la infancia: Aportacion de un case exceptional - Revision de la literatura.

  14. Case report

    African Journals Online (AJOL)

    abp

    2017-09-04

    Sep 4, 2017 ... Published in partnership with the African Field Epidemiology Network (AFENET). (www.afenet.net). Case report ... occurrence during infancy; and development from neural crest cells. [1, 5]. In a histological review, .... with adjuvant treatment is suggested for recurrent lesions [3, 17]. All of these have been ...

  15. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-11-17

    Nov 17, 2015 ... Abstract. Here we report a case of central retinal artery occlusionrevealing an ischemic cardiomyopathy. A 54-year old smoker man presented at the hospital because of sudden visual loss in his left eye. There was cherry-red spot in the macula in his left eye. We performed a fluorescein angiogram and.

  16. Case report

    African Journals Online (AJOL)

    abp

    2016-05-13

    May 13, 2016 ... Abstract. We report a rare case of an elderly woman presented with right renal mass with invasion of renal vein and several small lymphadenopathy in the hilar area .the diagnosis of kidney cancer is suspected and the patient underwent open radical nephrectomy, surrenalectomy and lymphadenectomy ...

  17. CASE REPORT

    African Journals Online (AJOL)

    NJSR

    cardiac failure, as in our patient, digitalis and radiography are considered before surgical excision. Occasional cases have involuted spontaneously, though a few have metastasized. 5 Other forms of treatment include corticosteroids, and hepatic artery ligation. 7 Malignant transformation has been reported after successful ...

  18. Case report

    African Journals Online (AJOL)

    abp

    2017-05-05

    May 5, 2017 ... Chondroblastic osteosarcoma of the distal tibia: a rare case report. Aymen Ben Fredj1,&, Lassaad Hassini1, Aymen Fekih1, Mohamed Allagui1, Issam Aloui1, Abderrazek Abid1. 1Department of Orthopaedic Surgery, University Hospital, Monastir, Tunisia. &Corresponding author: Aymen Ben Fredj, ...

  19. Case series

    African Journals Online (AJOL)

    ebutamanya

    2015-01-20

    Jan 20, 2015 ... The brainstem, cerebral white matter, basal ganglia, internal capsule, thalamus and spinal cord were involved in forty four, thirty one, thirty, twenty nine, seventeen and four patients, respectively. The cerebral peduncle was the brainstem structure mainly involved with thirty cases followed by the pons with, ...

  20. Case report

    African Journals Online (AJOL)

    abp

    Abstract. Primary omental torsion is a rare cause of acute abdominal pain, we report a case of 10-year-old boy admitted with crampy abdominal pain, routine laboratory tests and plain abdominal radiography was normal, the patient underwent surgical exploration with the initial diagnosis of appendicitis, primary omental ...

  1. Case report

    African Journals Online (AJOL)

    Raoul

    2009-10-15

    Oct 15, 2009 ... Meckel's diverticulum: a case report from the University Hospital Center ... The Pan African Medical Journal - ISSN 1937-8688. ... Usually discovered incidentally; it is often the cause of acute abdominal emergencies. It may present as intestinal obstruction with volvulus, intussusceptions or peritonitis due to ...

  2. Case report

    African Journals Online (AJOL)

    abp

    16 janv. 2017 ... We report the case of a 70-year-old man with no past medical history presenting with laryngeal dyspnea associated with low abundant paroxysmal hemoptysis. The patient underwent nasofibroscopy showing the presence of a living and mobile organism at the subglottic level evoking a leech. Extraction ...

  3. Case report

    African Journals Online (AJOL)

    abp

    2016-02-29

    Feb 29, 2016 ... Classification of subtrochanteric femoral fractures. Injury. 2010. Jul;41(7):739-45. PubMed | Google Scholar. 3. Kennedy MT, Mitra A, Hierlihy TG, Harty JA, Reidy D, Dolan M. Subtrochanteric hip fractures treated with cerclage cables and long cephalomedullary nails: a review of 17 consecutive cases over. 2.

  4. Case report

    African Journals Online (AJOL)

    abp

    2016-07-14

    Jul 14, 2016 ... sarcoma mimicking abscess: review of the MRI appearances. Skeletal Radiol. 2001; 30:173 -7. PubMed | Google Scholar. 6. Adrian HO, Louis SL, Howard AO, Kenneth WA, John RG. Epithelioid sarcoma of the penis: Report of an unusual case and review of the literature. Ann Diagn Patho. 2000; 14(2):88-.

  5. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-02-13

    Feb 13, 2015 ... mucoid, T.inkin, T. cutaneum) a rate of 11.15%. This rate confirms the one recorded by Pini G & al ... The authors declare no competing interest. Authors' ... due to Trichosporonasahii,first two cases in Chile. Rev. IberoamMicol.

  6. Case Report

    DEFF Research Database (Denmark)

    Klubien, Jeanett; Borgersen, Dorte Winther; Rosenberg, Jacob

    2016-01-01

    Introduction Perforation of the gallbladder is a benign and common complication during laparoscopic cholecystectomy. However, it may result in stone spilling, which potentially can lead to serious postoperative complications.  Case report A 70-year-old male underwent laparoscopic cholecystectomy...

  7. Case Report

    DEFF Research Database (Denmark)

    Sylvester-Hvid, Amalie; Avnstorp, Magnus B; Wagenblast, Lene

    2017-01-01

    Introduction Breast seroma may be caused by a variety of factors including lymphatic disruption, continuous inflammation and foreign bodies such as breast implants. In cases of breast implants associated seroma the diagnosis of Anaplastic Large Cell Lymphoma (ALCL) should be investigated. Present...

  8. Case report

    African Journals Online (AJOL)

    abp

    2015-07-10

    Jul 10, 2015 ... We herein describe a case of a 22-year-old man with a long history of cocaine abuse. ... African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution ... a long history of cocaine, cannabis, and tobacco abuse. He presented to our.

  9. Case report

    African Journals Online (AJOL)

    ebutamanya

    19 févr. 2016 ... Enteropathy associated T-cell lymphoma (EATL) is a rare complication of celiac disease (CD). We report a case of EATL associated with CD revealed by acute intestinal obstruction. A North African woman of 38 years old with a history of infertility and chronic abdominal pain was admitted in emergency with ...

  10. Case report

    African Journals Online (AJOL)

    abp

    27 avr. 2016 ... Dysphagia revealing aberrant right subclavian artery: about a case. Abdelilah Mouhsine1,&, Oualid Bakzaza2, El Mehdi Atmane1, Ahmed Belkouch3, Redouane Rokhssi1, Youssef Berrada1, Mostapha. Alaoui2, M'barek Mahfoudi1, Abdelghani El Fikri1. 1Service de Radiologie, HMA, Marrakech, Maroc, ...

  11. Case report

    African Journals Online (AJOL)

    abp

    2014-05-30

    May 30, 2014 ... tumor size, pleural effusion, response to chemotherapy, and optimal radiotherapy [10]. Several authors assert that Surgical therapy has the most important implication and complete surgical resection is associated with a survival advantage [5]. In the index case, despite no distant metastasis were found at.

  12. Case report

    African Journals Online (AJOL)

    abp

    2013-08-29

    Aug 29, 2013 ... inflammatory bowel disease, in particular ulcerative colitis (UC), are often treated with immunosuppressive therapy and can develop colorectal KS [3]. We report the case of a human immunodeficiency negative-virus (HIV) man, with a severe refractory UC, who was treated with steroids, azathioprine and ...

  13. Case report

    African Journals Online (AJOL)

    abp

    5 mai 2016 ... Garcia JA, Garcia-Fernandez M, Romance A, Sanchez JC. Wandering spleen and gastric volvulus. Pediatr Radiol. 1994;. 24(7): 535-6. PubMed | Google Scholar. 3. Melikoglu M, Colak T, Kasasoglu. Two unusual cases of wandering spleen requiring splenectomy. Eur J Pediatr Surg. 1995; 5(1): 48-9.

  14. Case report

    African Journals Online (AJOL)

    ebutamanya

    French). 1984;30(3):177-81. PubMed |. Google Scholar. 12. Isla A, Paz JM, Sansivirini F, Zamora P, Garcia Grande A,. Fernandez A. Intramedullary spinal cord metastasis: a case report. J Neurosurg Sci. 2000 Jun; 44(2):99-101.

  15. Case report

    African Journals Online (AJOL)

    abp

    2013-05-21

    May 21, 2013 ... Imperforate Hymen - a rare cause of acute abdominal pain and tenesmus: case report and review of .... did a ten year retrospective analysis of the data of 15 patients treated for ... Low back pain (38-40%) [4, 13, 14]. Occurs as ...

  16. Case report

    African Journals Online (AJOL)

    abp

    2017-06-13

    Jun 13, 2017 ... Oxyuriasis's symptoms are extremely diverse in children, ranging from nausea, diarrhea, insomnia, irritability, recurrent cellulitis, loss of appetite, nightmares and endometritis. Here we report a curious case of oxyuriasis in the settings of a refugee camp in Greece. The patient was a. 10-year old Syrian ...

  17. Case report

    African Journals Online (AJOL)

    abp

    15 juin 2016 ... We report the case of a 17-year old admitted with diffuse bone pain, hypercalcemia and thrombopenia. Bone scan showed .... plus rares et ont été rapportée dans des observations isolées [13]. ... hypercalcemia in nude mice.

  18. Case series

    African Journals Online (AJOL)

    abp

    1 juin 2012 ... ... Ren- Xuan Guo, and Ke-Jian Guo. Adult intussusception: A retrospective review of 41 cases. World J Gastroenterol. 2009 Jul 14;15(26):3303-8. This article on PubMed. 14. Abou-Nukta F, Gutweiler J, Khaw J, Yavorek G. Giant lipoma causing a colo-colonic intussusception. Am Surg. 2007;73(4):417. This.

  19. Case report

    African Journals Online (AJOL)

    abp

    2013-02-14

    Feb 14, 2013 ... Abstract. Vaginal metastases of renal cell carcinoma have been rarely described. We report a case of a 75-year old woman, who underwent radical right nephrectomy for a renal cell carcinoma. Tumour was classified pT3bN0M0 and grade III of Furhmann grading. One year later, scanner discovered.

  20. Case report

    African Journals Online (AJOL)

    abp

    2013-11-04

    Nov 4, 2013 ... especially in developing countries. HBV can be complicated by acute glomerulonephritis , this association remains controversial. The optimal therapy is undefined, although in several studies, the antiviral drugs and the immunosuppressive therapy have been tried for those patients [1]. We report the case of ...

  1. Case report

    African Journals Online (AJOL)

    ebutamanya

    17 janv. 2016 ... Budd-Chiari syndrome: a rare complication of hepatic sarcoidosis (about one case). Ismael Ait Sghier1,&, Nabil Moatassim Billah1. 1Service de Radiologie Centrale, Hôpital Avicenne, Rabat, Maroc. &Corresponding author: Ismael Ait Sghier, Service de Radiologie Centrale, Hôpital Avicenne, Rabat, Maroc.

  2. Case competitions

    DEFF Research Database (Denmark)

    Schjoldager, Anne Gram

    2009-01-01

    The paper presents and discusses a teaching project with case competitions for MA students of specialised translation at the Aarhus School of Business, Aarhus University. Drawing on a series of online questionnaires, the paper ascertains how the project was evaluated by the participating students...

  3. Case report

    African Journals Online (AJOL)

    abp

    Cerebral venous sinus thrombosis in HIV-infected patients: report of 2 cases ... often affects young adults and children [1]. ... local trauma and infection, prothrombotic states like nephrotic ... head trauma. ... She denied any history of alcohol intake, cigarette smoking .... against protein S among HIV infected patients, leading to.

  4. Case report

    African Journals Online (AJOL)

    abp

    9 août 2017 ... We report a case of hemorrhagic stroke of the brainstem in a nonmonitored ... haemorrhagic stroke of the brainstem on the second post-operative day after cesarean section performed due to suspicion of retroplacental haematoma arisen .... syndrome hémorragique ont évolué favorablement et une patiente.

  5. Case series

    African Journals Online (AJOL)

    abp

    2015-01-19

    Jan 19, 2015 ... Child sexual abuse: report of 311 cases with review of literature. Laila Essabar1, Abdenbi Khalqallah2, Badr Sououd Benjelloun Dakhama1,&. 1Department of Paediatric Medical Emergencies of Rabat children's Hospital, Morocco, 2Laboratory of Clinical and Pathological Psychology,. Mohammed V ...

  6. CASE REPORT

    African Journals Online (AJOL)

    2011-12-02

    Dec 2, 2011 ... brain illustrated enhancement of the optic nerves post-. CASE REPORT ... improved bilaterally to 6/18 on the right and 6/12 on the left. There was .... the possible risks versus benefits of steroid therapy and invite them to ...

  7. Case report

    African Journals Online (AJOL)

    raoul

    2011-06-10

    Jun 10, 2011 ... The authors report the case of a patient admitted with right ... secondary locations of kidney cancers are lung, bone, liver and brain. ... thrombus (left) or inferior vena cava (right), promote the spin-cell ... They reported a median survival of 13.6 months for nephrectomy plus interferon group vs 7.8 months for ...

  8. Case report

    African Journals Online (AJOL)

    cqq1a

    20 sept. 2010 ... Desplypere JP, Pract M, Verdonk G. An unusual case of trichobezoar: The Rapunzel Syndrome. Am J Gastroenterol. 1982 Jul;77(7):467-. 7. This article on PubMed. 9. Kaushik NK, Sharma YP, Negi A, Jaswal A. Images - Gastric trichobezoar. Ind J Radiol Imag. 1999;9(3):137-139. 10. Newman B, Girdany ...

  9. Case report

    African Journals Online (AJOL)

    ebutamanya

    2015-05-05

    May 5, 2015 ... Abstract. We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents ...

  10. Case report

    African Journals Online (AJOL)

    2012-09-11

    Sep 11, 2012 ... Abstract. Solid pseudopapillary tumor (SPN) of the pancreas is a rare tumor, but has favorable prognosis. It is typically observed in young women. Only few cases have been reported in young men. We report the observation of a 73-year-old man presented with a palpable mass in the left upper abdomen.

  11. Case series

    African Journals Online (AJOL)

    raoul

    3 mars 2011 ... Martin RG. Malignant tumors of the small intestine. Surg Clin North Am. 1986; 66: 779-785. This article on PubMed. 5. Hatzaras I, Palesty JA, Abir F, Sullivan P, Kozol RA, Dudrick SJ, Longo WE. Small-bowel tumors: epidemiologic and clinical characteristics of 1260 cases from the connecticut tumor registry.

  12. CASE STUDY

    African Journals Online (AJOL)

    2010-09-01

    Sep 1, 2010 ... of the two diseases surgery can be successful, recovery can be similar to that .... lymphocytes predominated in 68% of cases, and that there was an .... using ferritin is the fact that it acts as an acute-phase reactant and will be ...

  13. The Case for Case Reports

    Directory of Open Access Journals (Sweden)

    George R. Saade

    2011-09-01

    Full Text Available If you are reading a hard copy of this editorial, then you are holding in hand the first issue of the American Journal of Perinatology Reports, or AJP Reports as we like to refer to it. Welcome to AJP Reports and thank you for taking the time to peruse it. I hope you find many of the reports interesting and helpful. The editorial team and publisher are very pleased to be able to bring this journal to our readers. Judging by the journal title, the editorial team, and the layout you may have already guessed that this is a companion to the American Journal of Perinatology. We will continue to publish original articles and topical reviews in the American Journal of Perinatology, but all case reports or case series will be referred to AJP Reports. Some may question the need for more case reports. Our decision to start AJP Reports obviously indicates that we think that case reports can be useful. I can refer to several diseases, treatment complications, and procedures that were first brought to the attention of healthcare providers through case reports. The best example of the usefulness of case reports is probably in infectious diseases. In the early phases of an emerging infectious disease, the case report or case series are usually the first clues of a problem. HIV was first brought to the attention of the medical community by case reports.[1] [2] [3] In our own field, the first attempts at treatment of twin-to-twin transfusion syndrome (TTTS using laser coagulation were reported in a case series.[4] After additional reports about the use of laser in TTTS, a randomized trial was performed that cemented laser photocoagulation as a therapeutic modality for TTTS.[5] While case reports or series are not considered the highest form of evidence, they are frequently the first form of evidence and the nudge that starts the cascade of investigation that ultimately leads to high-level evidence. Therefore, their impact on clinical practice may be easily

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

    Science.gov (United States)

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

    2011-01-01

    Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects. © 2011 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2011-03-01

    DC is an inherited bone marrow failure syndrome mainly characterized by nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Bone marrow failure is the most common cause of death in patients with DC. Because previous results of HSCT with a myeloablative regimen were disappointing, we used a reduced-intensity conditioning regimen for two patients with classic DC, and one patient with cryptic DC who harbored the TERT mutation. Graft sources included two mismatched-related bone marrow (BM) donors and one unrelated BM donor. Successful engraftment was achieved with few regimen-related toxicities in all patients. They were alive 10, 66, and 72 months after transplantation, respectively. Long-term follow-up is crucial to determine the late effects of our conditioning regimen. © 2010 John Wiley & Sons A/S.

  16. [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

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

    Science.gov (United States)

    ... difference in gene activation is caused by a phenomenon called genomic imprinting. When genomic imprinting reduces the ... 2 links) Eunice Kennedy Shriver National Institute of Child Health and Human Development: Adrenal Gland Disorders National ...

  18. Radiological case

    International Nuclear Information System (INIS)

    Giraldo Estrada, Horacio

    2001-01-01

    The paper analyze the case of a patient (65 year-old) masculine, who consults for precordial pain associated to dyspnoea, left scapular pain and in the shoulder of the same side, of 3 days of evolution that it has been permanent and progressive. He also refers, loss of weight the last 6 months and dyspnoea of effort of 1 month of evolution. He denies chill, fever, cough or expectoration. The patient presents gastric ulcer tried for 1 year, smoker of 2 packages of daily cigarettes of the 15 to the 40 years; all its life worked in masonry. X-rays of the thorax and Tac, among other analyses were done and the case is discusses

  19. Case Report

    DEFF Research Database (Denmark)

    Søborg, Marie-Louise Kulas; Rosenberg, Jacob; Burcharth, Jakob

    2016-01-01

    Guillain-Barré syndrome (GBS) is an acute ascending peripheral neuropathy, caused by autoimmune damage of the peripheral nerves. GBS can be divided into three subtypes: acute inflammatory demyelinating neuropathy, acute motor axonal neuropathy, and the more rare type, acute motor and sensory axonal...... neuropathy (AMSAN). Reports of AMSAN with onset after epidural anesthesia and spinal surgery are extremely rare, and the linkage between development of GBS and neuroaxial anesthesia remains conclusively unconfirmed. We present a case in which the patient developed subacute motor and predominantly sensory...... neuropathy following epidural blockade. The case emphasizes the need of including AMSAN in differential diagnostic considerations to changes in motor and sensory function following epidural anesthesia, allowing accelerated rehabilitation and relevant alleviating therapy....

  20. Case law

    International Nuclear Information System (INIS)

    2014-01-01

    This section of the Bulletin brings together the texts of the following case laws: Canada: - Judgment of the Federal Court of Canada sending back to a joint review panel for reconsideration the environmental assessment of a proposed new nuclear power plant in Ontario. France : - Conseil d'etat, 24 March 2014 (Request No. 358882); - Conseil d'etat, 24 March 2014 (Request No. 362001). Slovak Republic: - Further developments in cases related to the challenge by Greenpeace Slovakia to the Mochovce nuclear power plant; - Developments in relation to the disclosure of information concerning the Mochovce nuclear power plant. United States: - Initial Decision of the Atomic Safety and Licensing Board Ruling in Favour of Nuclear Innovation North America, LLC (NINA) Regarding Foreign Ownership, Control or Domination

  1. Case04

    DEFF Research Database (Denmark)

    Vestergaard, Flemming; Karlshøj, Jan; Hauch, Peter

    Casestudiets formål er at beskrive og måle en større entreprenørvirksomheds omkostninger og gevin-ster ved at anvende metoder og værktøjer, der er modelbaserede. Case 04 tager udgangspunkt i et konkret byggeprojekt, hvor BIM teknologien er anvendt på et for den danske entreprenørbranche rela...

  2. Case law

    International Nuclear Information System (INIS)

    Anon.

    2011-01-01

    This chapter gathers three case laws, one concerning France and the two others concerning the United States. France - Decision of the Administrative Court in Strasbourg on the permanent shutdown of the Fessenheim nuclear power plant: On 9 March 2011, the administrative court in Strasbourg confirmed the government's rejection to immediately close the Fessenheim nuclear power plant, the first unit of which started operation on 1 January 1978. The court rejected the motion of the 'Association trinationale de protection nucleaire' (ATPN) filed against the decision of the Minister of Economy, Industry and Employment to refuse the final shutdown of the plant. The group, which brings together associations as well as French, German and Swiss municipalities, had taken legal action in December 2008. United States - Case law 1 - Judgment of a US Court of Appeals on public access to sensitive security information and consideration of the environmental impacts of terrorist attacks on nuclear facilities: This case concerns 1) the public's right to access classified and sensitive security information relied upon by the US Nuclear Regulatory Commission (NRC) in its environmental review; and 2) the sufficiency of the NRC's environmental review of the impacts of terrorist attacks for a proposed Independent Spent Fuel Storage Installation (ISFSI). In 2003, the NRC ruled that the National Environmental Policy Act (NEPA) did not require the NRC to consider the impacts of terrorist attacks in its environmental review for the proposed ISFSI at the Diablo Canyon Power Plant. ' NEPA mandates that all federal agencies must prepare a detailed statement on the environment impacts before undertaking a major federal action that significantly affects the human environment. In 2004, the San Luis Obispo Mothers for Peace, a group of individuals who live near the Diablo Canyon Power Plant, filed a petition in the US Court of Appeals for the Ninth Circuit challenging the NRC's 2003 decision. The

  3. Dermatology case

    Directory of Open Access Journals (Sweden)

    Catarina Moreira

    2017-12-01

    Full Text Available Over the years, with advances in the understanding of the disease, general improvement in health standards and nutrition, scurvy is now rarely encountered. Dermatologic signs may be the only manifestation and are often misdiagnosed. Awareness of manifestations and prompt diagnosis are essential because, with appropriate vitamin replacement, scurvy is readily treated. We report the case of an adolescent whose diagnosis of scurvy was based on the recognition of dietary risk factors, the presence of dermatologic manifestations and the rapid resolution of skin lesions when vitamin C supplements were initiated.

  4. Case law

    International Nuclear Information System (INIS)

    2016-01-01

    This section treats of the following case laws: 1 - Canada: Decision of the Canadian Federal Court of Appeal dismissing an appeal related to an environmental assessment of a project to refurbish and extend the life of an Ontario nuclear power plant; 2 - Poland: Decision of the Masovian Voivod of 28 December 2015 concerning the legality of the resolution on holding a local referendum in the Commune of Rozan regarding a new radioactive waste repository (2015); 3 - United States: Commission authorises issuance of construction permit for the Shine Medical Isotope Facility in Janesville, Wisconsin; 4 - United States: Commission authorises issuance of combined licences for the South Texas Project site in Matagorda County, Texas

  5. Aspectos raciais dos "megas" e da cardiopatia na doença de Chagas crônica

    Directory of Open Access Journals (Sweden)

    Lineu José Miziara

    1981-06-01

    Full Text Available O estudo de 724 pacientes chagásicos crônicos mostrou que a insuficiência cardíaca congestiva é mais freqüente e de aparecimento mais precoce nos pacientes de raça negra do que nos brancos. A ocorrência de "megas" foi ligeiramente inferior nos chagásicos negros não sendo estatisticamente significativa a diferença observada. A maior freqüência de insuficiência cardíaca nos pretos parece estar relacionada a características biológicas do tecido conjuntivo que condicionam uma resposta fibrosante mais acentuada no miocârdio agredido pela Tripanossomose. Estas observações estariam de acordo com outros estudos sobre a doença de Chagas que admitem ser a denervação o fator mais importante para o aparecimento dos "megas" e a inflamação com fibrose miocârdica acentuada um elemento básico para explicar a insuficiência cardíaca.The study of 724 patients with chronic chagas's disease showed that the cardiac faiture is more frequent and appears earlier in negroes patients when compared to white patients. The occurrence of "megas" was slightly lover in the negroes but the difference was not statisticaiiy significant. The higher frequency of cardiac faiture in the negrões seems to be caused by biological characteristics of the conective tissue which respond to trypanossomiasis with a more severe degree of fibrosis. These findings agree with other reports on Chagas's disease in which it is admitted that the "megas" are chiefly the result of dennervation and cardiac faiture is principally caused by infiammation with myocardial fibrosis.

  6. Aspectos raciais dos "megas" e da cardiopatia na doença de Chagas crônica

    Directory of Open Access Journals (Sweden)

    Lineu José Miziara

    1981-06-01

    Full Text Available O estudo de 724 pacientes chagásicos crônicos mostrou que a insuficiência cardíaca congestiva é mais freqüente e de aparecimento mais precoce nos pacientes de raça negra do que nos brancos. A ocorrência de "megas" foi ligeiramente inferior nos chagásicos negros não sendo estatisticamente significativa a diferença observada. A maior freqüência de insuficiência cardíaca nos pretos parece estar relacionada a características biológicas do tecido conjuntivo que condicionam uma resposta fibrosante mais acentuada no miocârdio agredido pela Tripanossomose. Estas observações estariam de acordo com outros estudos sobre a doença de Chagas que admitem ser a denervação o fator mais importante para o aparecimento dos "megas" e a inflamação com fibrose miocârdica acentuada um elemento básico para explicar a insuficiência cardíaca.

  7. Case Law

    International Nuclear Information System (INIS)

    2014-01-01

    This section treats of the following case laws sorted by country: 1 - Germany: Federal Administrative Court confirms the judgments of the Higher Administrative Court of the Land Hesse: The shutdown of nuclear power plant Biblis blocks A and B based on a 'moratorium' imposed by the Government was unlawful; List of lawsuits in the nuclear field. 2 - Slovak Republic: Further developments in cases related to the challenge by Greenpeace Slovakia to the Mochovce nuclear power plant; Developments in relation to the disclosure of information concerning the Mochovce nuclear power plant. 3 - United States: Judgment of the Nuclear Regulatory Commission resuming the licensing process for the Department of Energy's construction authorisation application for the Yucca Mountain high-level radioactive waste repository; Judgment of the Licensing Board in favour of Shaw AREVA MOX Services regarding the material control and accounting system at the proposed MOX Facility; Dismissal by US District Court Judge of lawsuit brought by US military personnel against Tokyo Electric Power Company (TEPCO) in connection with the Fukushima Daiichi nuclear power plant accident

  8. Clinical Case

    Directory of Open Access Journals (Sweden)

    Luca Apicella

    2011-01-01

    Full Text Available Renal sinus lipomatosis (RSL represents an abnormal proliferation of the adipose tissue surrounding the renal pelvis of uncertain origin, associated with aging, obesity, steroid excess, infections, and calculosis. It represents a rare complication in transplanted kidneys, and, despite the accurate and prolonged radiological followup of transplanted organs, only a few cases of RSL have been described in graft recipients, with no remarkable effects on renal function. The diagnosis relies on ultrasonography (US, magnetic resonance imaging (MRI, computed tomography (CT, and, finally, percutaneous biopsy. We describe the case of an extensive RSL in a 38-year-old renal transplant recipient, diagnosed by ultrasonography and computed tomography. The patient underwent a radiologic study because of an acute, asymptomatic renal impairment, that led to the diagnosis of a RSL of unusual dimensions, associated with a discrete hydronephrosis. Paradoxically, after a short course of steroids, the recovery of renal function and the partial resolution of calyceal dilatation were observed. The rarity of this affection, the need of a differential diagnosis with fat-containing tumors, and the possibility of parenchymal inflammation associated with RSL, potentially responsive to steroids, are also discussed.

  9. Imaging Case

    Directory of Open Access Journals (Sweden)

    Maria Adriana Rangel

    2018-04-01

    Full Text Available Introduction: Cephalohematoma is a collection of serosanguineous fluid below the periosteum and is the most frequent cranial injury in the newborn, occurring in 0.2-2.5% live births. The majority of cephalohematomas spontaneously resolve within three to four weeks, however, some persist beyond four weeks and begin to calcify. Case report: A seven-week-old boy, was referred to the emergency department because of a head lump on the right parietal region, with no other symptoms. He was born after a vacuum-assisted delivery, and presented a cephalohematoma in the first days of life, that progressively decreased and became more rigid. Physical examination, revealed a cranial asymmetry, and a head lump on the right parietal region, that was hard and fixed to the bone. Head X-ray revealed a radiopaque lump on the right parietal bone and a poorly defined arched line, as well as visible microcalcifications on the core of the cephalohematoma, typical findings of a calcified cephalohematoma. Discussion: Even though cephalohematoma is frequently encountered, calcified cephalohematoma is seen only sporadically, and is a rare clinical entity. History and clinical examination are important in the differential diagnosis and imaging strategy. Radiography and ultrasonography are often the initial screening diagnostic tests, followed by magnetic resonance imaging or computed tomography. Head x-ray features, in this case report, where particularly evocative of the diagnosis.

  10. Case Law

    International Nuclear Information System (INIS)

    Anon.

    2009-01-01

    Different case law are presented in this part: By decision dated 17 july 2009, the Ontario Court of Appeal (Canada) has ruled on the scope of solicitor-client privilege and the protections that may be afforded to privileged investigations reports. The decision reaffirms the canadian court system view of the importance of the protection of solicitor-client privilege to the administration of justice; For United states here is a judgment of a U.S. court of Appeals on the design basis threat security rule (2009), this case concerns a challenge to the U.S. Nuclear regulatory commission (N.R.C.) revised design basis threat rule, which was adopted in 2007 (nuclear bulletin law no. 80). The petitioners public citizen, Inc., San Luis Obispo Mothers for Peace and the State of New York filed a lawsuit in the U.S. court of appeals for the Ninth circuit alleging that the N.R.C. acted arbitrarily and capriciously and in violation of law by refusing to include the treat of air attacks in its final revised design basis rule. On the 24. july 2009, a panel of three ninth circuit judges rules 2-1 that the N.R.C. acted reasonably in not including an air treat in its design basis rule. Secondly, judgment of a U.S. court of appeals on consideration of the environmental impact of terrorist attacks on nuclear facilities (2009), this case concerns the scope of the U.S. Nuclear regulatory commission environmental analysis during its review of applications to re-licence commercial nuclear power plants. New Jersey urged the N.R.C. to consider the environmental impact of an airborne terrorist attack on the power plant, arguing that such analysis was required by the national environmental policy act (N.E.P.A.). On 31. march 2009, a panel of three circuit judges declined to follow the ninth circuit opinion and affirmed NRC decision 3-0 ruling that NRC was not required to consider terrorism in its N.E.P.A. analysis because NRC re-licensing would not be a reasonably close cause of terrorism

  11. Case law

    International Nuclear Information System (INIS)

    Anon.

    2008-01-01

    Canada: Brunswick News Inc. versus Her Majesty the Queen in the Right of the Province of New Brunswick denying release of nuclear power feasibility study: A superior court in Canada has made an important decision with regard to freedom of information legislation and protection of confidential commercial information. It denied a provincial newspaper company access to a feasibility study concerning the construction of a second nuclear power reactor in New Brunswick. U.S.A.: In the Court of federal Claims, plaintiffs Carolina Power and Light Company and Florida power corporation (collectively Progress Energy) claimed damages of U.S.D. 91 029 704 from defendant U.S. Department of Energy (D.O.E.), under the terms of D.O.E. standard contract for Disposal of spent nuclear fuel and/or high level waste. D.O.E. liability was previously established and the amount of damages was the sole issue in this case.Germany: in 2005, the federal Ministry for the Environment, Nature Conservation and Nuclear Safety (B.M.U.) instructed the regulatory and supervisory body of the federal state Baden-Wurtemberg to issue an order, which required the operator to shut its plant, without delay or further orders, in case of not obviously insignificant non-compliance with technical limits, measures or other specific safety-related requirements deemed to control incidents. The operator was further required to inform the regulatory and supervisory body immediately if it was no longer able to demonstrate the controllability of design basis accidents. In the judgement of the Federal Administrative court, the instruction to stop operation is too ambiguous since it does not specify with technical criteria should compel operators to shut their reactors.The court rules that, in compliance with the principle that administrative decisions must be precise, clear and unambiguous, an order to terminate operations must clearly state when and for what reasons an operator has this duty. a global obligation to

  12. Case law

    International Nuclear Information System (INIS)

    Anon.

    2007-01-01

    Concerning the France, the judgement of the European Court of Human Rights on the Right to a fair Trial, in the litigation Collectif Stop Melox and Mox versus France (2007) and the decision of the Council of State Quashing a decree concerning a nuclear installation in Brennilis, for the want of public information and consultation (2007) are reported. For South Africa, the judgment of the Cape High Court in the case of Mc donald and others versus Minister of Minerals and Energy and others (2007) is reported. United Kingdom states the decision of the Wick Sheriff Court Fining UKAEA for plutonium exposure (2007). Concerning Usa the judgment of the US Court of Appeals on environment Analysis of the effects of terrorism (2006) and the vacatur of US Court of Federal Claims Decision regarding Price-Anderson Compensation of Costs in a private Tort Claim (2007) are reported. (N.C.)

  13. Endoscopic case

    Directory of Open Access Journals (Sweden)

    Fernando Pereira

    2017-01-01

    Full Text Available We present the case of a ten-year-old female patient referred to Gastroenterolgy consultation for abdominal pain and cramping, usually worse after eating, recurring diarrhoea, hypochromic and microcytic anaemia with low serum iron and ferritin levels. Moderate to severe Crohn’s disease of the terminal ileum e right colon (L3 was diagnosed, based on endoscopic image and biopsy. The patient was treated with prednisone and azathioprine, but after one year of treatment she was steroids dependent and treatment was switched to infliximab. One year after beginning this treatment, the patient achieved remission (clinical and laboratorial parameters. A control colonoscopy showed mucosal healing with scars and deformation with stenosis of ileocecal valve (Figures 1-2. Surgical intervention will be probably necessary in near future.

  14. Case Series.

    Science.gov (United States)

    Vetrayan, Jayachandran; Othman, Suhana; Victor Paulraj, Smily Jesu Priya

    2017-01-01

    To assess the effectiveness and feasibility of behavioral sleep intervention for medicated children with ADHD. Six medicated children (five boys, one girl; aged 6-12 years) with ADHD participated in a 4-week sleep intervention program. The main behavioral strategies used were Faded Bedtime With Response Cost (FBRC) and positive reinforcement. Within a case-series design, objective measure (Sleep Disturbance Scale for Children [SDSC]) and subjective measure (sleep diaries) were used to record changes in children's sleep. For all six children, significant decrease was found in the severity of children's sleep problems (based on SDSC data). Bedtime resistance and mean sleep onset latency were reduced following the 4-week intervention program according to sleep diaries data. Gains were generally maintained at the follow-up. Parents perceived the intervention as being helpful. Based on the initial data, this intervention shows promise as an effective and feasible treatment.

  15. 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.

  16. 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 ...

  17. Case Study: Testing with Case Studies

    Science.gov (United States)

    Herreid, Clyde Freeman

    2015-01-01

    This column provides original articles on innovations in case study teaching, assessment of the method, as well as case studies with teaching notes. This month's issue discusses using case studies to test for knowledge or lessons learned.

  18. Case law

    International Nuclear Information System (INIS)

    2013-01-01

    This section reports on 7 case laws from 4 countries: - France: Conseil d'Etat decision, 28 June 2013, refusing to suspend operation of the Fessenheim nuclear power plant; - Slovak Republic: New developments including the Supreme Court's judgment in a matter involving Greenpeace Slovakia's claims regarding the Mochovce nuclear power plant; New developments in the matter involving Greenpeace's demands for information under the Freedom of Information Act; - Switzerland: Judgment of the Federal Supreme Court in the matter of the Departement federal de l'environnement, des transports, de l'energie et de la communication (DETEC) against Ursula Balmer-Schafroth and others on consideration of admissibility of a request to withdraw the operating licence for the Muehleberg nuclear power plant; - United States: Judgment of the Court of Appeals for the District of Columbia Circuit granting petition for writ of mandamus ordering US Nuclear Regulatory Commission (NRC) to resume Yucca Mountain licensing; Judgment of the Court of Appeals for the Second Circuit invalidating two Vermont statutes as preempted by the Atomic Energy Act; Judgment of the NRC on transferring Shieldalloy site to New Jersey's jurisdiction

  19. Case law

    International Nuclear Information System (INIS)

    Anon.

    2006-01-01

    Five articles are tackled: in France, the judgement of the Court of Appeal of Limoges concerning the dumping of radioactive waste by Areva N.C.(2006). The Court of Appeal of Limoges ruled that Areva N.C. was not guilty of dumping radioactive waste, and neither had it infringed radiation protection regulations or general mining industry regulations. there was no proof of damage to fish fauna. In Sweden, judgement on Plans for the dismantling of Barsebaeck (2006). This court case resulted from a dispute between the operator and the Swedish government Swedish radiation Protection Institute. The Swedish Government wanted decommissioning to commence immediately whereas plant management at Barsebaeck had indicated its intention to wait until 2020, when the radiation dose to workers during decommissioning work would be lower. The court approved the plans to commence dismantling in 2020, when a repository for large reactor components will be ready at the national final repository for radioactive waste at the Forsmark plant. In United Kingdom, on October 2006, British Nuclear group Sellafield Ltd. (B.N.G.S.L.) was fined 500 000 pounds (G.B.P.) plus G.B.P. 68000 in costs in a case brought by the UK health and Safety Executive (H.S.E.) for failing to identify and stop an eight-month long leak of 83 400 litres of radioactive liquid at the Thermal Oxide reprocessing Plant (T.H.O.R.P.) at Sellafield in Cumbria. The fine was levied at Carlisle Crown Court after B.N.G.S.L. pleaded guilty, at an earlier hearing, to the three counts of breaching conditions attached to the Sellafield site licence, granted under the 1965 Nuclear Installations Act as amended. These conditions require the licensee to make and comply with written instructions; to ensure safety systems are in good working order; and to ensure radioactive material is contained and, if leaks occur, they are detected and reported. In Usa, in accordance with the Nuclear Waste Policy Act of 1982, as amended (N.W.P.A.) the US

  20. Case law

    International Nuclear Information System (INIS)

    2017-01-01

    This section treats of the following case laws (United States): 1 - Virginia Uranium, Inc. v. Warren, 848 F.3d 590 (4. Cir. 2017): In the United States District Court for the Western District of Virginia, the plaintiffs, a collection of uranium mining companies and owners of land containing uranium deposits, challenged a Commonwealth of Virginia moratorium on conventional uranium mining. The plaintiffs alleged that the state moratorium was preempted by federal law under the Supremacy Clause of the US Constitution.; 2 - United States v. Energy Solutions, Inc.; Rockwell Holdco, Inc.; Andrews County; Holdings, Inc.; and Waste Control Specialists, LLC. (D. Del. June 21, 2017): In 2016, the United States, acting through the US Department of Justice, commenced an action in United States District Court in Delaware seeking to enjoin the acquisition of Waste Control Specialists, LLC (WCS) and its parent company by Energy Solutions, Inc., and its parent. WCS and Energy Solutions are competitors in the market for the disposal of low-level radioactive waste (LLRW) produced by commercial generators of such material. The United States alleged that the proposed acquisition was unlawful. 3 - Cooper v. Tokyo Electric Power Company, No. 15-56426 (9. Cir. 2017): The plaintiffs are US Navy service members who were deployed off the Japanese coast as part of the US effort to provide earthquake relief after the 9.0 earthquake and tsunami that struck Japan on 11 March 2011. Plaintiffs sued alleging 'that TEPCO was negligent in operating the Fukushima Daiichi Nuclear Power Plant and in reporting the extent of the radiation leak

  1. Case law

    International Nuclear Information System (INIS)

    2015-01-01

    This section treats of the following case laws: 1 - Canada: Decision of the Canadian Federal Court of Appeal overturning a decision to send back for reconsideration an environmental assessment of a proposed new nuclear power plant in Ontario; 2 - France: Council of State decision, 28 November 2014, Federation 'Reseau sortir du nucleaire' (Nuclear Phase-Out network) and others vs. Electricite de France (EDF), Request No. 367013 for the annulment of: - The resolution of the French Nuclear Safety Authority (ASN) dated 4 July 2011 specifying additional regulations for Electricite de France (EDF) designed to strengthen the reactor basemat of reactor No. 1 in the Fessenheim nuclear power plant, and - The resolution of ASN dated 19 December 2012 approving the start of work on reinforcing the reactor basemat in accordance with the dossier submitted by EDF; 3 - Germany: Judgment of the European Court of Justice on the nuclear fuel tax; 4 - India: Judgment of the High Court of Kerala in a public interest litigation challenging the constitutional validity of the Civil Liability for Nuclear Damage Act, 2010; 5 - Japan - District court decisions on lawsuits related to the restart of Sendai NPP and Takahama NPP; 6 - Poland: Decision of the Masovian Voivod concerning the legality of the resolution on holding a local referendum in the Commune of Rozan regarding a new radioactive waste repository; Certain provisions of the Regulation of the Minister of Health of 18 February 2011 on the conditions for safe use of ionising radiation for all types of medical exposure have been declared unconstitutional by a judgment pronounced by the Constitutional Tribunal; 7 - Slovak Republic: Developments in relation to the disclosure of information concerning the Mochovce nuclear power plant

  2. Cerebrovascular disorders in childhood: etiology, clinical presentation, and neuroimaging findings in a case series study Acidente vascular cerebral na infância: etiologia, apresentação clínica e achados de neuroimagem em um estudo de série de casos

    Directory of Open Access Journals (Sweden)

    André P.C. Matta

    2006-06-01

    Full Text Available OBJECTIVE: To describe the main etiologies, neurological manifestations and neuro-imaging findings among children with sequelae of cerebrovascular disorders. METHOD: Case series study of children whose diagnosis was stroke sequelae. Variables studied were age at the time of first episode, number of episodes, etiology, motor deficits, epilepsy, and effected vascular territory. RESULTS: Twenty three patients were studied. Average age at first episode was 6.91 (±2.08 years. Fourteen patients were female. The number of stroke events per patient ranged from one to five. The most frequent etiologies were heart disease and sickle cell anemia. The most frequent neurological deficit was right hemiparesis. Nine patients experienced seizures. The left middle cerebral artery was the most affected vascular area. CONCLUSION: Our findings are similar to those described in the literature. Despite a careful investigation, some causes of stroke remain unidentified.OBJETIVO: Descrever as principais etiologias, manifestações neurológicas e achados de neuroimagem entre crianças com seqüela de acidente vascular cerebral (AVC. MÉTODO: Estudo de série de casos de crianças com seqüela de AVC isquêmico ou hemorrágico, analisando-se as variáveis: idade no primeiro episódio, número de eventos, etiologia, déficit motor, epilepsia e território vascular acometido. RESULTADO: Vinte e três pacientes foram incluídos, sendo 14 do sexo feminino. A idade do primeiro episódio foi 6.91 (±2,08 anos. O número de eventos por paciente variou entre 1 e 5. As etiologias mais freqüentes foram cardiopatia e anemia falciforme. O déficit mais encontrado foi a hemiparesia direita. Nove pacientes apresentaram convulsões. A artéria cerebral média esquerda foi o território vascular mais afetado. COCLUSÃO: Os achados deste trabalho estão de acordo com a literatura em geral. Apesar de extensa investigação, alguns casos permanecem sem definição etiológica.

  3. CASE REPORT CASE CASE Post-traumatic cholesteatoma … a ...

    African Journals Online (AJOL)

    CASE REPORT. CASE. 46. SA JOURNAL OF RADIOLOGY • July 2008. CASE. Abstract. Temporal bone fractures and their acute complications have been well described in radiology and ENT journals; this is in contrast to ... post-traumatic cholesteatomas and made postulations on their origin. Since then, there have been ...

  4. CASE STUDY CRITIQUE; UPPER CLINCH CASE STUDY

    Science.gov (United States)

    Case study critique: Upper Clinch case study (from Research on Methods for Integrating Ecological Economics and Ecological Risk Assessment: A Trade-off Weighted Index Approach to Integrating Economics and Ecological Risk Assessment). This critique answers the questions: 1) does ...

  5. Levosimendan no tratamento da contusão miocárdica grave pós-trauma torácico fechado: relato de caso = Levosimendan treatment for severe myocardial contusion after blunt chest trauma: case report

    Directory of Open Access Journals (Sweden)

    Benincasa, Cristian Chassot

    2007-01-01

    Conclusão: na literatura existem dados que indicam a utilização de levosimendan na insuficiência cardíaca descompensada. Estudos experimentais e pequenos ensaios clínicos tem despertado o interesse na utilização de levosimendan para melhora da função miocárdica em pacientes com cardiopatia isquêmica, choque cardiogênico e choque séptico. Porém, ainda não há relatos sobre a sua utilização em contusão miocárdica

  6. Clinical Case Registries (CCR)

    Data.gov (United States)

    Department of Veterans Affairs — The Clinical Case Registries (CCR) replaced the former Immunology Case Registry and the Hepatitis C Case Registry with local and national databases. The CCR:HIV and...

  7. Project management case studies

    CERN Document Server

    Kerzner, Harold R

    2013-01-01

    A new edition of the most popular book of project management case studies, expanded to include more than 100 cases plus a ""super case"" on the Iridium Project Case studies are an important part of project management education and training. This Fourth Edition of Harold Kerzner''s Project Management Case Studies features a number of new cases covering value measurement in project management. Also included is the well-received ""super case,"" which covers all aspects of project management and may be used as a capstone for a course. This new edition:Contains 100-plus case studies drawn from re

  8. CASING DRILLING TECHNOLOGY

    Directory of Open Access Journals (Sweden)

    Nediljka Gaurina-Međimurec

    2005-12-01

    Full Text Available Casing drilling is an alternative option to conventional drilling and uses standard oilfield casing instead of drillstring. This technology is one of the greatest developments in drilling operations. Casing drilling involves drilling and casing a well simultaneously. In casing driling process, downhole tools can be retrieved, through the casing on wire-line, meaning tool recovery or replacement of tools can take minutes versus hours under conventional methods. This process employs wireline-retrievable tools and a drill-lock assembly, permitting bit and BHA changes, coring, electrical logging and even directional or horizontal drilling. Once the casing point is reached, the casing is cemented in place without tripping pipe.

  9. Anestesia para correção de tetralogia de Fallot em paciente adulto: relato de caso Anestesia para corrección de tetralogía de Fallot en paciente adulto: relato de caso Anesthesia for repair of tetralogy of Fallot in an adult patient: case report

    Directory of Open Access Journals (Sweden)

    Michelle Nacur Lorentz

    2007-10-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: A cardiopatia congênita é um dos problemas mais comuns ao nascimento acometendo 1 a 1,5 em cada 10.000 nascidos vivos. Atualmente mais de 85% das crianças com cardiopatias congênitas chegam à idade adulta em parte devido aos novos tratamentos, mas sobretudo em virtude da tendência de se realizarem correções cirúrgicas mais precoces. Por outro lado, é raro encontrar um adulto com tetralogia de Fallot (T4F não-corrigida. O objetivo do presente relato foi descrever um caso de T4F submetido à correção cirúrgica na idade adulta. RELATO DO CASO: Paciente de 45 anos, sexo feminino, portadora de T4F internada para realização de correção cirúrgica. Ao exame físico apresentava-se cianótica nas extremidades e com saturação de oxigênio (SpO2 de 73%. Foi realizada anestesia geral balanceada com etomidato, fentanil, pancurônio e sevoflurano. A correção cirúrgica realizada foi o fechamento da comunicação ventricular e interposição de conduto valvado pulmonar n° 24, posteriormente foi fenestrado o septo ventricular. À saída de circulação extracorpórea (CEC foram administradas milrinona e dopamina. A SpO2 ao fim da operação era 97%. Após o procedimento cirúrgico a paciente foi encaminhada ao CTI, onde permaneceu por 72 horas e teve alta hospitalar no oitavo dia pós-operatório em boas condições. CONCLUSÕES: O caso ilustrou sucesso de intervenção cirúrgica em paciente de alto risco com grande interação entre cirurgião, anestesista e terapia intensiva.JUSIFICATIVA Y OBJETIVOS: El síndrome de la infusión del propofol ha sido descrito como un síndrome raro y frecuentemente fatal que ocurre después de la infusión prolongada de ese fármaco. Puede resultar en acidez metabólica grave, rabdomiólisis, colapso cardiovascular y deceso. El objetivo de este artículo fue mostrar aspectos relacionados al síndrome de la infusión del propofol a través de la revisión de la literatura

  10. Case Study Research Methodology

    Directory of Open Access Journals (Sweden)

    Mark Widdowson

    2011-01-01

    Full Text Available Commenting on the lack of case studies published in modern psychotherapy publications, the author reviews the strengths of case study methodology and responds to common criticisms, before providing a summary of types of case studies including clinical, experimental and naturalistic. Suggestions are included for developing systematic case studies and brief descriptions are given of a range of research resources relating to outcome and process measures. Examples of a pragmatic case study design and a hermeneutic single-case efficacy design are given and the paper concludes with some ethical considerations and an exhortation to the TA community to engage more widely in case study research.

  11. Pure Case and Prepositional Case in Russian

    DEFF Research Database (Denmark)

    Durst-Andersen, Per; Lorentzen, Elena

    2017-01-01

    By considering Russian case as the nominal equivalent to mood whereby its semantic functions are emphasized at the expense of its syntactic functions, it is demonstrated that the nominative, accusative, vocative and genitive cases constitute a mini system in which the nominative and the accusative...

  12. Comparative Test Case Specification

    DEFF Research Database (Denmark)

    Kalyanova, Olena; Heiselberg, Per

     This document includes a definition of the comparative test cases DSF200_3 and DSF200_4, which previously described in the comparative test case specification for the test cases DSF100_3 and DSF200_3 [Ref.1]....... This document includes a definition of the comparative test cases DSF200_3 and DSF200_4, which previously described in the comparative test case specification for the test cases DSF100_3 and DSF200_3 [Ref.1]....

  13. CASE REPORT Degenerative leiomyopathy CASE REPORT

    African Journals Online (AJOL)

    cases the condition was progressive and eventually affected the entire ... been discouraged because of the progressive nature of the disease. A gastrostomy and/or ... which eventually lead to their demise, usually in their late teens.4. 1.

  14. Useful Business Cases

    DEFF Research Database (Denmark)

    Nielsen, Peter Axel; Persson, John Stouby

    2017-01-01

    during implementation and value creation. This article presents lessons learned from our action research, lessons that we incorporated into a business case method and subsequently evaluated with IS managers. There are three lessons on: (1) improving the content of business cases, (2) how to develop...... research study seeks to improve the usefulness of business cases in IS projects. We used collaborative action research with Danish municipalities to improve their practices when developing and using business cases and to change their perceptions of what constitutes a good business case that is useful...... business cases, and (3) the use of business cases in subsequent value creation. These lessons summarize our findings and the contributions are that we in the business case method propose to: (1) include minimal contents, (2) develop social commitment, and (3) structure for dynamic use during value creation...

  15. PSS Case Book

    DEFF Research Database (Denmark)

    Neugebauer, Line Maria; Mougaard, Krestine; Andersen, Jakob Bejbro

    The transformation process towards a PSS-oriented company is describes, through the presentation of the best practice cases. Each case describes motivations, challenges, business models and PSS offerings....

  16. 451 Case studies Cardiac

    African Journals Online (AJOL)

    Marinda

    Case Studies. 29 ... A case of a 26-year-old ASA I physical status male undergoing septoplasty had an abrupt ... myocardial infarction, severe hypertensive crisis, cerebral .... or no formal management is required in an ASA I patient.8 One.

  17. Xeroderma pigmentosum (case report

    Directory of Open Access Journals (Sweden)

    Dubey Arvind

    1990-01-01

    Full Text Available Xeroderma pigmentosum is a rare, hereditary and fatal disease of the skin. Ocular involvement is known to occur in 80% of cases. A case with typical cutaneous and ocular lesions is reported.

  18. Mining with Rare Cases

    Science.gov (United States)

    Weiss, Gary M.

    Rare cases are often the most interesting cases. For example, in medical diagnosis one is typically interested in identifying relatively rare diseases, such as cancer, rather than more frequently occurring ones, such as the common cold. In this chapter we discuss the role of rare cases in Data Mining. Specific problems associated with mining rare cases are discussed, followed by a description of methods for addressing these problems.

  19. FHEO Filed Cases

    Data.gov (United States)

    Department of Housing and Urban Development — The dataset is a list of all the Title VIII fair housing cases filed by FHEO from 1/1/2007 - 12/31/2012 including the case number, case name, filing date, state and...

  20. Portal cholangiopathy: case report

    Directory of Open Access Journals (Sweden)

    Maria Cecilia Almeida Maia

    2014-01-01

    Full Text Available The present report describes the case of a child that after blunt abdominal trauma presented with portal thrombosis followed by progressive splenomegaly and jaundice. Ultrasonography and percutaneous cholangiography revealed biliary dilatation secondary to choledochal stenosis caused by dilated peribiliary veins, characterizing a case of portal biliopathy. The present case report is aimed at presenting an uncommon cause of this condition.

  1. Defining a periodontitis case

    DEFF Research Database (Denmark)

    Baelum, Vibeke; Lopez, Rodrigo

    2012-01-01

    . Conclusions The results indicate that it should be feasible for the periodontal community to reach an agreement over the distinction between a case and a non-case. The classification system proposed by van der Velden is better suited for providing clinicians with a clear image of the case....

  2. CASE REPORT CASE CASE Conned by Conn's syndrome

    African Journals Online (AJOL)

    2008-01-08

    Jan 8, 2008 ... ing of the aldosterone-producing adenoma (APA) can prove challenging but is nonetheless very important for surgical planning and cure. We present two patients with MRI (magnetic resonance imaging) confirma- tion of APA with negative and equivocal CT (computed tomography) scans. Case 1.

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

    OpenAIRE

    Rubio Romero, Jorge Andrés

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Zaidenberg Mario

    1999-01-01

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

  5. CASE REPORT A recurrent gestational choriocarcinoma case ...

    African Journals Online (AJOL)

    Admin

    molar pregnancy (Luna Russo et al., 2015). To our knowledge recurrence resulting in rupture 14 month following a live pregnancy is an extremely rare event. Management of gestational trophoblastic disease in our setup poses multiple challenges as seen in this particular case. Serum β-HCG follow up for these patients ...

  6. From Use Cases to Activity Cases

    DEFF Research Database (Denmark)

    Bækgaard, Lars

    2005-01-01

    Use cases can be used to capture requirements and to subdivide IT-systems into functionally coherent units. Information systems are activity systems that carry out important business activities. Many systems development methods recognize activity modeling as an important development activity. Use...

  7. Teaching Case: Enterprise Architecture Specification Case Study

    Science.gov (United States)

    Steenkamp, Annette Lerine; Alawdah, Amal; Almasri, Osama; Gai, Keke; Khattab, Nidal; Swaby, Carval; Abaas, Ramy

    2013-01-01

    A graduate course in enterprise architecture had a team project component in which a real-world business case, provided by an industry sponsor, formed the basis of the project charter and the architecture statement of work. The paper aims to share the team project experience on developing the architecture specifications based on the business case…

  8. Case-based reasoning

    CERN Document Server

    Kolodner, Janet

    1993-01-01

    Case-based reasoning is one of the fastest growing areas in the field of knowledge-based systems and this book, authored by a leader in the field, is the first comprehensive text on the subject. Case-based reasoning systems are systems that store information about situations in their memory. As new problems arise, similar situations are searched out to help solve these problems. Problems are understood and inferences are made by finding the closest cases in memory, comparing and contrasting the problem with those cases, making inferences based on those comparisons, and asking questions whe

  9. [Case and studies].

    Science.gov (United States)

    Schubert, András

    2015-11-15

    Case studies and case reports form an important and ever growing part of scientific and scholarly literature. The paper deals with the share and citation rate of these publication types on different fields of research. In general, evidence seems to support the opinion that an excessive number of such publications may negatively influence the impact factor of the journal. In the literature of scientometrics, case studies (at least the presence of the term "case study" in the titles of the papers) have a moderate share, but their citation rate is practically equal to that of other publication types.

  10. Achados clínico-laboratoriais de uma série de casos com endocardite infecciosa Clinical and laboratory findings in a series of cases of infective endocarditis

    Directory of Open Access Journals (Sweden)

    Carla A.Z. Pereira

    2003-10-01

    /16-56,6%. Houve persistência da febre, apesar do tratamento, duração da febre de 2,5 a 30 dias, mediana de 18,0 dias. O valor médio de leucócitos à internação foi de 11.657±7.085mm³. O ecocardiograma transtorácico, realizado em todos os pacientes, evidenciou vegetações, principalmente nas válvulas tricúspide (25,0%, mitral (25,0% e na borda de CIV (28,6%. Treze (46,4% crianças apresentaram sepse concomitante, e três (10,7% infecção hospitalar. Houve um óbito (3,6%. CONCLUSÕES: A endocardite infecciosa em nosso meio é freqüente em crianças abaixo de dois anos de idade e com uma cardiopatia congênita. O S. aureus de origem comunitária foi o microorganismo isolado mais freqüentemente, e em crianças sem lesão cardíaca prévia. Endocardite infecciosa aguda, endocardite bacteriana, Staphylococcus aureus, ecocardiografia transtorácica.OBJECTIVE: To describe clinical and laboratory data of infective endocarditis (IE in 28 children from Vitória, state of Espírito Santo, Brazil. METHODS: We reviewed the medical records of 28 children aged 18 years and under admitted to the Infectious Diseases Unit of Nossa Senhora da Glória Children's Hospital with a diagnosis of IE from January 1993 to December 2001. The diagnosis of IE was based on the criteria established by the Duke Endocarditis Service (Duke University, Durham, North Carolina, USA: positive blood cultures and echocardiogram (primary criteria; and fever, history of heart disease, recent heart murmur, and vascular and immunological phenomena (secondary criteria. A specific protocol was filled out by interns and medical students and revised by physicians from the hospital medical team to obtain the following data: age, sex, clinical and laboratory findings, and results of transthoracic echocardiography. In all cases, three blood samples were collected under aseptic conditions and inoculated in aerobic and anaerobic environments. The samples were then incubated at 37º C and tested with the VITEC SYSTEM

  11. "Tuberculosis Case Management" Training.

    Science.gov (United States)

    Knebel, Elisa; Kolodner, Jennifer

    2001-01-01

    The need to isolated health providers with critical knowledge in tuberculosis (TB) case management prompted the development of "Tuberculosis Case Management" CD-ROM. Features include "Learning Center,""Examination Room," and "Library." The combination of audio, video, and graphics allows participants to…

  12. The Legal Case

    NARCIS (Netherlands)

    Sartor, Giovanni; Contissa, Giuseppe; Schebesta, H.; Laukyte, Migle; Lanzi, Paola; Marti, Patrizia; Paola, Tomasello

    2013-01-01

    This paper presents the first release of the Legal Case, recently developed by the ALIAS Project and still under refinement. The Legal Case is a methodological tool intended to address liability issues of automated ATM systems: it provides for a legal risk management process that can be applied

  13. A case of pancreatolithiasis

    International Nuclear Information System (INIS)

    Sasaki, Fumio; Koga, Sukehiko; Takeuchi, Akira

    1982-01-01

    During 3-year follow-up of a case of pancreatolithiasis localized in the pancreatic head, CT showed sudden new appearance of calculi over an extensive area of the body and tail of the pancreas after acute exacerbation of chronic pancreatitis. This case and the etiology and mechanism of pancreatolithiasis were discussed on the basis of literature. (Chiba, N.)

  14. Essential trichomegaly: case report

    Directory of Open Access Journals (Sweden)

    Julia Dutra Rossetto

    2013-02-01

    Full Text Available The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis, and uveitis. The exact incidence trichomegaly is unknown, and the condition remains sporadically reported. Two cases of symptomatic trichomegaly without any associated systemic disorder are presented in this paper.

  15. 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.

  16. Political Psychopathy : Fujimori case

    OpenAIRE

    Nizama Valladolid, Martin

    2014-01-01

    Seven years after his political fall, Alberto Fujimori Fujimori was extradited from Chile on September 22 of 2007, in order to judge him by two cases of human rights violations and five corruption cases. The mega-trial begun on december 10 of 2007. According to the mediate authorship theory, having led the command in charge of the counterterrorist actions involves him in crimes related to human rights. The Supreme court special penal division judges him by six cases related to human rights, c...

  17. Some of the cases

    DEFF Research Database (Denmark)

    Eller, Nanna Hurwitz; Mogensen, Jørn Thykjær; Gyntelberg, Finn

    2014-01-01

    Some of the cases of acknowledged occupational psychiatric disorder in Denmark have been exposed to negative press coverage. Such individuals might have been exposed to violence to a lower extent than other with an acknowledged psychological work injury. We compared 25 cases with 35 controls...... matched on age and gender. The cases had experienced significantly fewer incidents of violence and had less anxiety and flashback symptoms than the controls. The results suggest that the negative press coverage was the reason for the psychiatric symptoms rather than exposures at the workplace....

  18. Relação entre Fibrose e Arritmias Ventriculares na Cardiopatia Chagásica sem Disfunção Ventricular

    OpenAIRE

    Eduardo Marinho Tassi; Marcelo Abramoff Continentino; Emília Matos do Nascimento; Basílio de Bragança Pereira; Roberto Coury Pedrosa

    2014-01-01

    Fundamento: Pacientes com doença de Chagas com alteração segmentar apresentam pior prognóstico independentemente da fração de ejeção ventricular esquerda. A ressonância magnética cardíaca é atualmente o melhor método para detecção de alteração segmentar e para avaliação de fibrose miocárdica. Objetivo: Quantificar a fibrose, por meio do realce tardio, pela ressonância magnética cardíaca, em pacientes com doença de Chagas com fração de ejeção ventricular esquerda preservada ou minimamente ...

  19. Competências do enfermeiro na promoção da saúde de indivíduos com cardiopatias crônicas

    Directory of Open Access Journals (Sweden)

    Virna Ribeiro Feitosa Cestari

    Full Text Available RESUMO Objetivo: identificar as competências do enfermeiro relacionadas à promoção da saúde de indivíduos com cardiopatas crônicas, à luz do Consenso de Galway. Método: revisão integrativa da literatura, com busca de artigos publicados entre os anos de 2010 e 2014, nas bases de dados LILACS, BDENF, IBECS; e no portal PubMed, em fevereiro de 2015. Os 21 artigos selecionados foram analisados de acordo com os oito domínios de competências: Catalisar mudanças, Liderança, Avaliação das necessidades, Planejamento, Implementação, Avaliação do impacto, Defesa de direitos e Parcerias. Resultados: todos os domínios de competências foram contemplados nas intervenções do enfermeiro na promoção da saúde de cardiopatas crônicos, sendo o Planejamento e a Avaliação os mais evidenciados. Conclusão: os resultados desta pesquisa destacaram o enfermeiro como agente capaz de operar a gestão do cuidado, com vistas a melhorar articulação deste último com o trabalho e educação e, desta maneira, a assistência à saúde da população.

  20. Ventriculectomia parcial: um novo conceito no tratamento cirúrgico de cardiopatias em fase final Partial ventriculectomy: a new concept for surgical treatment of end stage cardiopathies

    Directory of Open Access Journals (Sweden)

    Randas J. V Batista

    1996-03-01

    Full Text Available A melhora clínica da função cardíaca pós aneurismectomia de ventrículo esquerdo e/ou cardiomioplastia com o músculo grande dorsal parece ser, ao menos parcialmente, devida ao remodelamento do ventrículo esquerdo. Através de pesquisa em nosso laboratório experimental com carneiros, demonstramos que o aumento do diâmetro do ventrículo é mais importante que a perda de massa muscular para a deterioração da função ventricular. Sabendo-se que em miocardiopatia dilatada não ocorre aumento de massa muscular, reduzimos o diâmetro do ventrículo para o normal, em uma série consecutiva de pacientes com esta lesão. No período de 1984 a 1995, foram operados com esta nova técnica, denominada, então, "Ventriculectomia Parcial", 103 pacientes portadores de miocardiopatias complexas e insuficiência cardíaca congestiva (NYHA IV. A operação é baseada na lei de Laplace (T=P.11.D e consistiu na remoção de uma fatia de músculo da parede lateral do ventrículo esquerdo, iniciando-se na ponta deste, estendendo-se entre os músculos papilares e terminando próximo ao anel mitral. A cirurgia é realizada sob circulação extracorpórea normotérmica e não se utiliza cardioplegia. "Todos os pacientes foram avaliados pré-operatoriamente com ecodopplercardiografia e ventriculografia digital, os quais revelaram fração de ejeção The clinical improvement of cardiac function post left ventricular aneurysmectomy and/or cardiomyoplasty with the latissimus dorsi muscle seems to be due to the remodeling of the left ventricle. We did some experiments with sheep in our laboratory and we concluded that the increment of ventricular diameter is more deleterious than loss of muscle mass to the ventricular function. Since there is no increment in muscle mass to the dilated hearts, we reduced their diameter to accomplish a better ventricular function in a series of very sick patients with dilated hearts. From 1984 to 1995, 103 patients with complex cardiac problems and end stage congestive heart failure (NYHA IV with dilated cardiomyopathy underwent "Partial Ventriculectomy". The operation was based on Laplace's law (T-P.II.D and consisted of removal of a large wedge of muscle from the lateral wall of the left ventricle beginning at the apex and extending between the papillary muscles, ending proximal to the mitral annulus. The operation was performed under normothermic cardiopulmonary bypass and no cardioplegia was used. Pre-operative left ventriculography and echocardiography showed global hypocontractility of the hearts with ejection fraction lower than 20% in all patients who were considered candidates for cardiac transplantation. Males were predominant (n=73 and the age varied from 19 to 74 years. The pathologies were: viral miocarditis (n=12; post miocardioplasty (n=1; Chagas' disease (n=15; valvular disease (n=38; ischemic disease (n=16; idiopathic (n=21. Hospital mortality (30 days post operative (n=13: pulmonary embolus (n=4; renal failure (n=5; bleeding (n=4. Late deaths (after 30 days post-operative (n=10: arhythmia (n=6; "cardiac failure" (n=2; unknown (n=2; 8 patients required reoperation for bleeding. There were no infection and none required IAPB. All patients had nipride and 19 needed inotropics. Post-op ventriculographies and echocardiographies showed improvement of EF (from 100% to 300%. In conclusion, this new technique "Partial Ventriculectomy", with it's purpose of reducing the ventricular diameter, may benefit patients with end stage heart failure. And this new concept may, in our experience, give the patient improvement in his clinical status and increase life span.

  1. Relação entre Fibrose e Arritmias Ventriculares na Cardiopatia Chagásica sem Disfunção Ventricular

    Directory of Open Access Journals (Sweden)

    Eduardo Marinho Tassi

    2014-06-01

    Full Text Available Fundamento: Pacientes com doença de Chagas com alteração segmentar apresentam pior prognóstico independentemente da fração de ejeção ventricular esquerda. A ressonância magnética cardíaca é atualmente o melhor método para detecção de alteração segmentar e para avaliação de fibrose miocárdica. Objetivo: Quantificar a fibrose, por meio do realce tardio, pela ressonância magnética cardíaca, em pacientes com doença de Chagas com fração de ejeção ventricular esquerda preservada ou minimamente comprometida (> 45% e detectar padrões de dependência entre fibrose, alteração segmentar e fração de ejeção ventricular esquerda na presença de arritmia ventricular. Métodos: Foram realizados eletrocardiograma, teste ergométrico, Holter e ressonância magnética cardíaca em 61 pacientes, separados em três grupos: (1 eletrocardiograma normal e ressonância magnética cardíaca sem alteração segmentar; (2 eletrocardiograma alterado e ressonância magnética cardíaca sem alteração segmentar; e (3 ressonância magnética cardíaca com alteração segmentar independentemente de alteração no eletrocardiograma. Resultados: O número de pacientes com arritmia ventricular em relação ao número total de pacientes em cada grupo, a porcentagem de fibrose e a fração de ejeção ventricular esquerda foram, respectivamente: no primeiro grupo, 4/26, 0,74% e 74,34%; no segundo grupo, 4/16, 3,96% e 68,5%; e no terceiro grupo, 11/19, 14,07% e 55,59%. Arritmia ventricular foi encontrada em 31,1% dos pacientes. Aqueles com e sem arritmia ventricular apresentaram fração de ejeção ventricular esquerda média de 59,87% e 70,18%, respectivamente, e fibrose de 11,03% e 3,01%, respectivamente. Das variáveis alteração segmentar, grupos, idade, fração de ejeção ventricular esquerda e fibrose, a última foi a única significativa para a presença de arritmia ventricular, com ponto de corte de 11,78% para massa fibrosada (p < 0,001. Conclusão: Mesmo em pacientes com doença de Chagas com fração de ejeção ventricular esquerda preservada ou minimamente comprometida, a instabilidade elétrica pode estar presente. Fibrose é a variável mais importante para a presença de arritmia ventricular, sendo sua quantidade proporcional à complexidade dos grupos.

  2. Avaliação clínica e microbiológica periodontal em portadores de cardiopatia valvar na gestação

    OpenAIRE

    Lilia Timerman

    2008-01-01

    Microorganismos da cavidade oral têm sido admitidos como causadores de doenças sistêmicas com reconhecido mecanismo de disseminação via corrente sangüínea. Diferentes fatores, incluindo a presença da doença periodontal, têm influência no risco de bacteremia oral, podendo ocasionar endocardite infecciosa por Streptococcus viridans. Sendo assim, a manutenção da saúde bucal adquire elevado grau de importância em gestantes portadoras de doença valvar reumática, em que o risco de endocardite infec...

  3. Recent Case Law

    DEFF Research Database (Denmark)

    Petz, Thomas; Sagaert, Vincent; Østergaard, Kim

    2004-01-01

    In this section authors from various European countries report the recent case law in their country on the field of private patrimonial law, that is decisions on the law of property, juridical acts, the law of obligations, contract law and prescription. The European Review of Private Law (ERPL......) started this section in 2003. The section aims to give our readers an overview of what is happening in the most recent European case law. We have asked the national reporters to report the juridical essence of the decisions given by the highest courts in their country. These national reports...... not relate the facts of the decision, nor the personal opinion of the reporter. One can find discussions on the most important decisions of European courts in ERPL’s case note section. The recent case law section gives overviews of decisions published in periods of four months. The period of January...

  4. Multiple meningiomas CASE SERIES

    African Journals Online (AJOL)

    masses in the right parietal and parasagittal region (Figs 1a and b). Case 2: A ... scan showed hyperdense parasagittal and left cerebellopontine angle meningiomas (Figs ... Meningiomas are the most common primary non-glial brain tumours.

  5. Septic Systems Case Studies

    Science.gov (United States)

    A collection of septic systems case studies to help community planners, elected officials, health department staff, state officials, and interested citizens explore alternatives for managing their decentralized wastewater treatment systems.

  6. SPOROTRICHOSIS: A CASE REPORT

    OpenAIRE

    Sudheer; Venkatakrishna; Nagaswetha; Manmohan

    2015-01-01

    Sporotrichosis is a rare disease in the Southern part of India. A sporadic case of sporotrichosis restricted to primary site of inoculation in a 11-years old student from a non–endemic region of Telangana has been described.

  7. USCIS My Case Status

    Data.gov (United States)

    Department of Homeland Security — USCIS provide a way for the public who applied for U.S. citizenship to check the status of their application online. To view the status of a case, the application...

  8. 425 Case study

    African Journals Online (AJOL)

    Marinda

    Anaesthesia management of acute aortic dissection type B in ... of a severe, constant abdominal and chest pain radiating to the ... Continuous spinal anaesthesia was induced ... these cases surgical intervention is critical.1,2 Type B of AAD is.

  9. CASE Recognition Awards.

    Science.gov (United States)

    Currents, 1985

    1985-01-01

    A total of 294 schools, colleges, and universities received prizes in this year's CASE Recognition program. Awards were given in: public relations programs, student recruitment, marketing, program pulications, news writing, fund raising, radio programming, school periodicals, etc. (MLW)

  10. HYDROGEOLOGIC CASE STUDIES

    Science.gov (United States)

    Hydrogeology is the foundation of subsurface site characterization for evaluations of monitored natural attenuation (MNA). Three case studies are presented. Examples of the potentially detrimental effects of drilling additives on ground-water samples from monitoring wells are d...

  11. A Psychobiographical Case Study

    African Journals Online (AJOL)

    man, and cancer fighter. This psychobiographical case study entailed a psychosocial-historical ... does not draw more attention as a research method, as this approach has .... of the applied Levinsonian theory to the life of Jobs against the ...

  12. Cheilitis granulomatosa: Case series

    Directory of Open Access Journals (Sweden)

    Sudha Rani Chintagunta

    2017-01-01

    Full Text Available Granulomatous cheilitis is an idiopathic inflammatory disorder characterized by persistent, asymptomatic, diffuse swelling of one or both lips. It is also considered as an oligosymptomatic or monosymptomatic form of Melkersson–Rosenthal syndrome. We herewith report five cases of granulomatous cheilitis of which three cases were females and two were males. The mean age was 41 years. The average duration of symptoms was 2.5 years (2–3 years. Four patients presented with asymptomatic persistent swelling of the upper lip and one patient with lower lip. Two cases showed associated fissuring and angular cheilitis. One case also showed involvement of the left cheek. All the patients showed moderate improvement with combination of minocycline and intralesional triamcinolone therapy.

  13. Safety case plan 2008

    International Nuclear Information System (INIS)

    2008-07-01

    Following the guidelines set forth by the Ministry of Trade and Industry (now Ministry of Employment and Economy) Posiva is preparing to submit the construction license application for a spent fuel repository by the end of the year 2012. The long-term safety section supporting the license application is based on a safety case, which, according to the internationally adopted definition, is a compilation of the evidence, analyses and arguments that quantify and substantiate the safety and the level of expert confidence in the safety of the planned repository. In 2005, Posiva presented a plan to prepare such a safety case. The present report provides a revised plan of the safety case contents mentioned above. The update of the safety case plan takes into account the recommendations made by the Radiation and Nuclear Safety Authority (STUK) about improving the focus and further developing the plan. Accordingly, particular attention is given to the quality management of the safety case work, the management of uncertainties and the scenario methodology. The quality management is based on the ISO 9001:2000 standard process thinking enhanced with special features arising from STUK's YVL Guides. The safety case production process is divided into four main sub-processes. The conceptualisation and methodology sub-process defines the framework for the assessment. The critical data handling and modelling sub-process links Posiva's main technical and scientific activities to the production of the safety case. The assessment sub-process analyses the consequences of the evolution of the disposal system in various scenarios, classified either as part of the expected evolution or as disruptive scenarios. The compliance and confidence sub-process is responsible for final evaluation of compliance of the assessment results with the regulatory criteria and the overall confidence in the safety case. As in the previous safety case plan, the safety case will be based on several reports, but

  14. Breast nocardiosis: case report

    International Nuclear Information System (INIS)

    Kim, Min Ju; Kim, Sun Mi; Park, Jeong Mi

    2003-01-01

    Nocardiosis is an opportunistic infection occurring in immunocompromised patients. Worldwidely, about four cases of nocardiosis of the breast have been previously reported, but none of these were in Korea. We describe a case of breast nocardiosis associated with pulmonary infection in a patient with Cushing's disease. In our patient, multiple, well-defined, conglomerated, tubular-shaped, isodense mass was revealed at mammography, and an irregular-shaped, ill-defined, heterogeneous echoic mass with movable debris at ultrasonography

  15. Qualitative Case Study Guidelines

    Science.gov (United States)

    2013-11-01

    Introduction to Sociological Methods. 2nd ed. New York, McGraw-Hill 14. Denzin , N. K. and Lincoln , Y. S. (2011) The SAGE Handbook of Qualitative...The Art of Science. In: Denzin , N. K. and Lincoln , Y. S. (eds.) Handbook of Qualitative Research. Thousand Oaks, Sage 19. GAO (1990) Case Study...Rinehart & Winston 39. Stake, R. E. (1994) Case Studies. In: Denzin , N. K. and Lincoln , Y. S. (eds.) Handbook of Qualitative Research. Thousand Oaks, Sage

  16. The case for Dounreay

    International Nuclear Information System (INIS)

    1979-01-01

    This document sets out to state the case for the Commercial Demonstration Fast Reactor and to explain the reasons why it should be situated at Dounreay, Caithness, Scotland. Headings are: the case for CDFR; why should the CDFR be sited in Caithness (Caithness before Dounreay; the social and economic significance of Dounreay; the Caithness economy today; Caithness - the need for jobs); the CDFR and Caithness; conclusions. (U.K.)

  17. Sirenomelia: a case report.

    Science.gov (United States)

    Mandal, Subinay; Bandyopadhyay, Anjali; Ray, Sumit

    2009-01-01

    Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. Here a case of sirenomelia born of a 5th gravida mother is reported. The body had fusion of both lower limbs, absent genitalia, absent anal orifice and single umbilical artery. It died 2 1/2 hours after birth. Autopsy was undertaken to verify various anomalies.

  18. SIRENOMELIA: A CASE REPORT

    OpenAIRE

    Wankhede; Shrivastava

    2016-01-01

    The incidence of Sirenomelia is thought to be about 1 in 65,000 live births (Oxford Medical database, Dysmorphology). In Sirenomelia, lower limbs are fused together. Common associated malformations include absent genitalia, imperforate anus, lumbosacral vertebral pelvic abnormalities and renal agenesis. Sirenomelia with craniorachischisis totalis (CT) is a rare fetal malformation, only six cases have been reported in English literature (1-5) and none yet from Asia. Our case is of ...

  19. Catamenial pneumothorax - case report

    International Nuclear Information System (INIS)

    Hasara, R.; Kudelkova, J.; Pestal, A.; Jedlicka, V.; Capov, I.; Reismullerova, L.

    2014-01-01

    Catamenial pneumothorax is a rare type of spontaneous pneumothorax, developed in women in reproductive age due to the presence of thoracic endometriosis. Medical history is the key to the correct diagnosis. Treatment combines methods of thoracic surgery, together with hormonal substitution therapy and, in rare cases, also gynecological operation. We present the case report of young woman with spontaneous pneumothorax due to thoracic endometriosis. (author)

  20. Comparative Test Case Specification

    DEFF Research Database (Denmark)

    Kalyanova, Olena; Heiselberg, Per

    This document includes the specification on the IEA task of evaluation building energy simulation computer programs for the Double Skin Facades (DSF) constructions. There are two approaches involved into this procedure, one is the comparative approach and another is the empirical one. In the comp....... In the comparative approach the outcomes of different software tools are compared, while in the empirical approach the modelling results are compared with the results of experimental test cases. The comparative test cases include: ventilation, shading and geometry....

  1. Breast nocardiosis: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Min Ju; Kim, Sun Mi; Park, Jeong Mi [Asan Medical Center, Seoul (Korea, Republic of)

    2003-11-01

    Nocardiosis is an opportunistic infection occurring in immunocompromised patients. Worldwidely, about four cases of nocardiosis of the breast have been previously reported, but none of these were in Korea. We describe a case of breast nocardiosis associated with pulmonary infection in a patient with Cushing's disease. In our patient, multiple, well-defined, conglomerated, tubular-shaped, isodense mass was revealed at mammography, and an irregular-shaped, ill-defined, heterogeneous echoic mass with movable debris at ultrasonography.

  2. Miocárdio não compactado, Doença de Chagas e disfunção: relato de caso Miocardio no compactado, Enfermedad de Chagas y disfunción: caso clínico Noncompaction of the myocardium, Chagas' disease and dysfunction: a case report

    Directory of Open Access Journals (Sweden)

    Ronaldo Peixoto de Mello

    2010-07-01

    Full Text Available Relatamos a associação entre a cardiopatia associada ao miocárdio não compactado do ventrículo esquerdo (MNCVE à cardiopatia chagásica crônica (CCC em paciente com clínica de insuficiência cardíaca, acidente vascular cerebral isquêmico e arritmia cardíaca. As imagens típicas de MNCVE e CCC foram documentadas pela ressonância magnética cardíaca (RMC.Relatamos la asociación entre la cardiopatía asociada al miocardio no compactado del ventrículo izquierdo (MNCVI con la cardiopatía chagásica crónica (CCC en paciente con clínica de insuficiencia cardíaca, accidente vascular cerebral isquémico y arritmia cardíaca. Las imágenes típicas de MNCVI y CCC fueron documentadas por resonancia magnética cardíaca (RMC.We report the association between heart disease associated with noncompaction of the left ventricular myocardium (NCLVM and chronic Chagas' heart disease (CCHD in a patient with heart failure, ischemic stroke and cardiac arrhythmia. Images typical of NCLVM and CCHD were documented by cardiac magnetic resonance imaging (CMRI.

  3. Case Management Directors

    Science.gov (United States)

    Bankston White, Cheri; Birmingham, Jackie

    2015-01-01

    Purpose and Objectives: Case management directors are in a dynamic position to affect the transition of care of patients across the continuum, work with all levels of providers, and support the financial well-being of a hospital. Most importantly, they can drive good patient outcomes. Although the position is critical on many different levels, there is little to help guide a new director in attending to all the “moving parts” of such a complex role. This is Part 2 of a two-part article written for case management directors, particularly new ones. Part 1 covered the first 4 of 7 tracks: (1) Staffing and Human Resources, (2) Compliance and Accreditation, (3) Discharge Planning and (4) Utilization Review and Revenue Cycle. Part 2 addresses (5) Internal Departmental Relationships (Organizational), (6) External Relationships (Community Agency), and (7) Quality and Program Outcomes. This article attempts to answer the following questions: Are case management directors prepared for an expanded role that affects departments and organizations outside of their own?How does a case management director manage the transition of care of patients while managing required relationships outside the department?How does the director manage program outcomes in such a complex department? Primary Practice Setting: The information is most meaningful to those case management directors who work in either stand-alone hospitals or integrated health systems and have frontline case managers (CMs) reporting to them. Findings/Conclusions: Part 1 found that case management directors would benefit from further research and documentation of “best practices” related to their role, particularly in the areas of leadership and management. The same conclusion applies to Part 2, which addresses the director's responsibilities outside her immediate department. Leadership and management skills apply as well to building strong, productive relationships across a broad spectrum of external organizations

  4. Objectivist case study research

    DEFF Research Database (Denmark)

    Ridder, Hanne Mette Ochsner; Fachner, Jörg

    2016-01-01

    be achieved through the use of objectivist case study research. The strength of the case study design is that it allows for uncovering or suggesting causal relationships in real-life settings through an intensive and rich collection of data. According to Hilliard (1993), the opposite applies for extensive......In order to comprehend the impact of music therapy or music therapy processes, a researcher might look for an approach where the topic under investigation can be understood within a broader context. This calls for a rich inclusion of data and consequently a limited number of participants and may...... designs, in which a small amount of data is gathered on a large number of subjects. With the richness of data, the intensive design is ―the primary pragmatic reason for engaging in single-case or small N research‖ (p. 374) and for working from an idiographic rather than a nomothetic perspective....

  5. Trichinosis - case presentation

    Directory of Open Access Journals (Sweden)

    Rajko Saletinger

    2007-03-01

    Full Text Available Background: Trichinosis is a widespread zoonosis acquired by ingestion of undercooked meat infected with the larvae of Trichinella parasites. The disease has variable clinical manifestations ranging from asymptomatic to fatal. Majority of infections is caused by Trichinella spiralis, although there are some cases caused by other species. The dramatic decline of trichinosis reflects changes in industrial practices and increased public awareness. The majority of human cases are now associated with wild game meat and noncommercial pork. The case of previously healthy, young man with trichinosis is presented. The disease was determined with serologic testing and cured with albendazole. The source of infection has not been determined.Conclusions: In patients with fever, mialgias and eosinophilia infection with tissue nematodes should always be taken in consideration. In those who have recently consumed raw or undercooked pork and wild game meat we should think about trichinosis. The disease is rare in Slovenia.

  6. MRI case studies

    International Nuclear Information System (INIS)

    Huggett, S.; Barber, J.

    1989-01-01

    Three case studies are presented to show the value of magnetic resonance imaging used in conjunction with other imaging techniques. In each case MRI proved a vital diagnostic tool and superior to CT in showing firstly the haematoma in a patient with aphasia and right-sided weakness, secondly the size of the disc herniation in a patient with severe leg and ankle pains and thirdly the existence of a metastatic lesion in a patient with a previous history of breast cancer. 11 figs

  7. Case report 363

    International Nuclear Information System (INIS)

    Langer, R.; Kaufmann, H.J.

    1986-01-01

    In summary, the case is presented of a 10-year-old girl with a fibrosarcoma of the femoral shaft, which showed the radiological and histological features of a malignant bone tumor, but with no findings radiologically pathognomonic of fibrosarcoma. Malignant fibrous histiocytoma, fibrogenic osteosarcoma and even Ewing tumor could present with the same radiological features. Although permeative infiltration of bone (described in this case) is observed in primary fibrosarcoma, it is much more commonly associated with another malignant bone tumor of childhood - Ewing tumor. (orig./SHA)

  8. Penoscrotal elephantiasis: Case report

    Directory of Open Access Journals (Sweden)

    Anna Jędrowiak

    2017-04-01

    Full Text Available Genital elephantiasis is characterized by massive growth of genitals as a result of chronic lymphedema caused by numerous infectious and noninfectiuos triggers. In most cases it occurs in filarial endemic zones and is rarely encountered in developed nations. Herein, we report a case of 33-year-old previously healthy patient who presented with rapid penoscrostal enlargement and systemic signs due to probable streptococcal contagion after a surgical treatment of phimosis subsequently complicated with chronic penoscrotal lymphedema. Genital elephantiasis is usually irreversible with systemic therapy alone and frequently requires surgical procedures following the acute stage of the disease.

  9. Infrasellar craniopharyngioma: case report

    Directory of Open Access Journals (Sweden)

    Falavigna Asdrubal

    2001-01-01

    Full Text Available We report a case of infrasellar craniopharyngioma in a 34 year-old woman who presented with progressive headache and diplopia. Computed tomographic and magnetic resonance images showed a heterogeneous tumor originating from the sphenoid bone with ethmoid sinus and sella turcica extension. A sublabial rhinoseptal transsphenoidal surgery was performed. Craniopharyngiomas with infrasellar development are very rare. Infrasellar craniopharyngioma is uncommon, thirty-five cases has been reported in literature. The embryology, clinical features and radiographic investigation of these tumors are discussed.

  10. Askin Tumour: Case Report

    International Nuclear Information System (INIS)

    Gomez, Carolina; Ramirez, Sandra Milena; Quesada, Diana Constanza; Unigarro Luz Adriana

    2011-01-01

    In this article we report a case of a 19 year-old woman with a final diagnosis of an extra skeletal Primitive Neuroectodermal Tumor/Ewing sarcoma of the chest, also known as Askin tumour. The histologic features and the immunohistochemical profile were consistent with this aggressive malignancy of the chest wall that affects young people. Because the low incidence of this entity, as well as the clear radiological findings, we considered it interesting to describe this documented case and undertake a review of the literature.

  11. Penoscrotal elephantiasis: Case report

    Directory of Open Access Journals (Sweden)

    Anna Jędrowiak

    2016-07-01

    Full Text Available Genital elephantiasis is characterized by massive growth of genitals as a result of chronic lymphedema caused by numerous infectious and noninfectiuos triggers. In most cases it occurs in filarial endemic zones and is rarely encountered in developed nations. Herein, we report a case of 33-year-old previously healthy patient who presented with rapid penoscrostal enlargement and systemic signs due to probable streptococcal contagion after a surgical treatment of phimosis subsequently complicated with chronic penoscrotal lymphedema. Genital elephantiasis is usually irreversible with systemic therapy alone and frequently requires surgical procedures following the acute stage of the disease

  12. Tinea incognito: Case series

    Directory of Open Access Journals (Sweden)

    Mikail Yılmaz

    2015-09-01

    Full Text Available Tinea incognito is a dermatophytic infection which has lost its typical clinical appearance because of inappropriate use of topical or systemic corticosteroids. The clinical manifestations of tinea incognito can mimic many dermatoses such as eczema, psoriasis, allergic contact dermatitis, rosacea, seborrheic dermatitis and atopic dermatitis. The diagnosis of tinea incognito is confirmed by direct KOH (potassium hydroxide examination ( native preparation, making the fungal cultures from the lesion and histopathological examination in some cases. Systemic antifungal therapy is recommended in the treatment of tinea incognito. Herein, 10 cases of tinea incognito which mimicking various dermatoses were diagnosed and treated in our clinic in 2014 is presented.

  13. Case Studies - Cervical Cancer

    Centers for Disease Control (CDC) Podcasts

    Dr. Alan Waxman, a professor of obstetrics and gynecology at the University of New Mexico and chair of the American College of Obstetricians and Gynecologists (ACOG) committee for the underserved, talks about several case studies for cervical cancer screening and management.

  14. Clinical Case. Visceral Leishmaniasis

    Directory of Open Access Journals (Sweden)

    I.V. Bogadelnikov

    2014-04-01

    Full Text Available This article presents a clinical case of visceral leishmaniasis in 9-month-old girl. There is described in detail the change of clinical symptoms, as well as laboratory and instrumental diagnostic technique in this child. Attention was paid to epidemiological history, which made it possible to make a definitive diagnosis (posthumously.

  15. Nuclear forensics case studies

    International Nuclear Information System (INIS)

    Fedchenko, Vitaly

    2016-01-01

    The objective of this presentation is to share three case studies from the Institute of Transuranium Elements (ITU) which describe the application of nuclear forensics to events where nuclear and other radioactive material was found to be out of regulatory control

  16. Case histories as evidence.

    Science.gov (United States)

    Herxheimer, Andrew; Healy, David; Menkes, David B

    2012-01-01

    In courts case histories play a central part when a crime may have resulted from an effect of a prescribed drug; in civil cases where a person may have suffered damage from a drug; and in coroners' enquiries into the cause of unexplained deaths. The court must decide two important questions: 1. Can the suspected medication(s) cause this kind of effect? 2. Did it (or they) do so in this particular case? Many judges and coroners have not addressed these questions clearly and have not used expert witnesses consistently, on occasion disregarding scientific evidence. Courts need to appoint experts to explain and interpret the scientific evidence. Few judges are equipped to resolve contradictions between different experts. Brief accounts of five cases from four countries illustrate these points. The reluctance of legal processes to implicate drugs as a possible cause of violent behaviour leads to injustice. Courts must be required to obtain appropriate expert evidence, and be given independent data on which drugs can cause such behaviour.

  17. Radiological case. Pulmonary Lymphangioleiomyomatosis

    International Nuclear Information System (INIS)

    Rivera Bernal, Aura Lucia; Carrillo Bayona, Jorge Alberto; Ojeda Leon, Paulina

    2004-01-01

    Lymphangioleiomyomatosis is a rare disorder, which affects principally the pulmonary parenchyma of young women at a reproductive age, and is pathologically characterized by the interstitial proliferation of smooth muscle and formation of cysts in the lung. We present the case of a 35-year-old woman that has a lymphangioleiomyomatosis diagnosis

  18. SCA12 case study

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 88; Issue 1. Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. Samira Bahl Ikhlak Ahmed The Indian Genome Variation Consortium Mitali Mukerji. Research Article Volume 88 Issue 1 April 2009 pp 55- ...

  19. CASE REPORT Mermaid baby

    African Journals Online (AJOL)

    SA JOURNAL OF RADIOLOGY • September 2010. Abstract. We were recently intrigued by a baby born at Kalafong Hospital with fused lower extremities resembling a mermaid, which caused us to search for the background and origin of this entity called sirenomelia. Case report. A 40-year-old woman delivered a baby at 36 ...

  20. Case report 537: Chondroblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Pignatti, G.; Nigrisoli, M.

    1989-05-01

    A case is reported of a 10-year-old girl who presented with pain in the left hip. Radiologically, a well-defined lytic lesion with a sclerotic border was present in the neck of the femur, with no epiphyseal involvement. The rarity of a metaphyseal site of origin of a chondroblastoma was stressed and the literature reviewed. (orig./GDG).

  1. Destroy The Bank! (case)

    NARCIS (Netherlands)

    G.J. Van der Star; dr. A. Maas

    2016-01-01

    DZ Bank faces some significant challenges for the near future. One of them is the way payments are being made. This case is about Stefan, the Strategic Management Consultant of DZ Bank. He struggles with innovations and new technologies, such as Bitcoins. What does this mean for the future of the

  2. Alkaptonuria: Case report

    Directory of Open Access Journals (Sweden)

    Swapna S Khatu

    2015-01-01

    Full Text Available Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and skeletal involvement. Histopathological examination also revealed classical ochre-colored deposits in dermis.

  3. Case in Language Comprehension

    NARCIS (Netherlands)

    Bader, Markus; Lamers, Monique

    2012-01-01

    Research on human language comprehension has been heavily influenced by properties of the English language. Since case plays only a minor role in English, its role for language comprehension has only recently become a topic for extensive research on psycholinguistics. In the psycholinguistic

  4. [The stamina case].

    Science.gov (United States)

    2013-01-01

    The Stamina method is proposed by the non-profit Stamina Foundation and envisages the conversion of mesenchymal stem cells, which normally generate bone, cartilage and adipose tissue, into neurons after brief exposure to ethanol and retinoic acid. The reactions of the scientific community and the implications of the case are briefly explored.

  5. Cleidocranial dysostosis: case report

    International Nuclear Information System (INIS)

    Marussi, Victor Hugo Rocha; Mariz, Fernando Eduardo Nunes; Moraes, Aline Curcio de; Segregio, Camila Aparecida de Souza; Mendonca, Isac Miranda de

    2008-01-01

    Cleidocranial dysostosis syndrome is an autosomal dominant condition with generalised dysplasia of bone and teeth. It is characterized by short stature, typical facial features and skeletal anomalies affecting skull and clavicle. The authors refer to the case of a male patient presenting this syndrome, emphasizing clinical and radiologic findings. (author)

  6. national Case study

    African Journals Online (AJOL)

    This national case study reports on the development of a national network, ... system under the new policy), tends to be limited by content on problems and ... 20 credit programme; and within two Post Graduate Certificate of Education contexts, ...... descriptive with an issues focus (empirical) towards awareness production to.

  7. Case vignettes of movement disorders.

    Science.gov (United States)

    Yung, C Y

    1983-08-01

    This paper reports five movement disorders cases to serve as a basis for discussion of the problems encountered in the clinical management of these cases, and the pathophysiological mechanisms involved in these disorders as presented. Case 1 is a description of the subjective experience of a patient with acute orofacial dystonia from promethazine. Case 2 is the use of clonazepam is post-head injury tics. Case 3 is the complication from discontinuation of haloperidol and benztropine mesylate treatment. Case 4 is myoclonus in subacute sclerosing Panencephalitis, and Case 5 is rebound tremor from withdrawal of a beta-adrenergic blocker.

  8. Kleptomania: a case series

    Science.gov (United States)

    Saluja, Bharat; Chan, Lai Gwen; Dhaval, Dani

    2014-01-01

    Kleptomania is an enigmatic condition and is among the very few psychiatric disorders in which crime is medicalised and used as a legal defence. The scientific literature on kleptomania is scarce. Early literature and recent studies have shown a female preponderance, with an early age of onset of stealing in people with comorbid personality disorder(s). In a retrospective review of the case notes of theft offenders who had forensic psychiatric evaluations performed in a one-year period in 2010 at the Institute of Mental Health, Singapore, we found three patients who were diagnosed with kleptomania. In this report, we describe the pertinent clinical and sociodemographic characteristics, as well as the diagnostic issues of kleptomania in relation to the three cases. PMID:25630329

  9. Use of comparison cases

    Energy Technology Data Exchange (ETDEWEB)

    Klein, G.A.

    1982-01-01

    How can we make predictions about complex ill-defined domains. expert judgement does not tell us about the basis for the prediction. Formal analysis, on the other hand, is expensive to implement and may not be feasible if there are unknown parameters. The use of comparison cases offers a middle ground between these two extremes. In order to apply comparison-based predictions, we must understand the logic governing its use. It is argued that the use of comparision cases in analogical reasoning is a form of deductive rather than probabilistic inference, and under certain conditions can yield valid conclusions. For most applications, the necessary conditions for ensuring validity will not be met, but actions can be taken to increase confidence in the prediction. 4 references.

  10. Abdominal pregnancy - Case presentation.

    Science.gov (United States)

    Bohiltea, R; Radoi, V; Tufan, C; Horhoianu, I A; Bohiltea, C

    2015-01-01

    Abdominal pregnancy, a rare diagnosis, belongs to the ectopic pregnancy group, the leading cause of pregnancy related exitus. The positive diagnosis is very difficult to establish most often in an acute setting, leading to a staggering percent of feto-maternal morbidity and mortality. We present the case of 26-weeks-old abdominal pregnancy with partial feto-placental detachment in a patient, after hysteroscopy and in vitro fertilization, which until the acute symptoms that led to emergency laparotomy went unrecognized. The patient recovered completely and satisfactorily after surgery and, due to the high risk of uterine rupture with regard to a second pregnancy, opted for a surrogate mother. Abdominal pregnancy can be regarded as a difficult to establish diagnosis, with a greater chance in case of increased awareness. It is compulsory to be well informed in order not to be surprised by the diagnosis and to apply the correct treatment immediately as the morbidity and mortality rate is elevated.

  11. Kleptomania: a case series.

    Science.gov (United States)

    Saluja, Bharat; Chan, Lai Gwen; Dhaval, Dani

    2014-12-01

    Kleptomania is an enigmatic condition and is among the very few psychiatric disorders in which crime is medicalised and used as a legal defence. The scientific literature on kleptomania is scarce. Early literature and recent studies have shown a female preponderance, with an early age of onset of stealing in people with comorbid personality disorder(s). In a retrospective review of the case notes of theft offenders who had forensic psychiatric evaluations performed in a one-year period in 2010 at the Institute of Mental Health, Singapore, we found three patients who were diagnosed with kleptomania. In this report, we describe the pertinent clinical and sociodemographic characteristics, as well as the diagnostic issues of kleptomania in relation to the three cases.

  12. Pleural mesothelioma - case report.

    Science.gov (United States)

    Klawiter, Anna; Damaszke, Tomasz

    2010-10-01

    Pleural mesothelioma is a very rare neoplasm; especially the local form. The diagnostics is difficult and the prognosis unfavourable. We presented a case of a man with dyspnoea and cough. His chest radiogram showed hydrothorax on the left side. Neither the examinations of the pleural liquid, nor the CT-guided fine needle biopsy established the diagnosis. CT showed features suggestive of pleural mesothelioma. The diagnosis was confirmed by thoracoscopy. Although no neoplastic cells were found in the thoracoscopic specimen from the supradiaphragmatic tumor, we assumed that to be a case of a diffuse, primarily local form of mesothelioma. Diagnostics of pleural mesothelioma is very difficult. CT and thoracoscopy seem to be very valuable diagnostic methods. It is worth remembering that pleural mesothelioma can have a local form which may transform into a diffuse one.

  13. Amitraz poisoning: case report

    Directory of Open Access Journals (Sweden)

    Jaime Alexander Molina-Bolaños

    2017-10-01

    Full Text Available Amitraz is an insecticide compound used worldwide for controlling pests, especially in agricultural and livestock areas. However, amitraz poisoning in Colombia is rare. This article reports the case of an 18-year-old female patient who was admitted in the emergency service 3 hours after the intake of an unknown amount of Triatox® (amitraz. The patient presented with a depressed level of consciousness, respiratory distress, hypotension, bradycardia, myosis and metabolic acidosis compensated with respiratory alkalosis. Initial treatment was provided using life support measures in the emergency ward, and subsequent transfer and support in the intensive care unit. She was discharged 24 hours after admission. This case considers the clinical similarity between amitraz poisoning and poisoning caused by other more frequent toxic compounds such as carbamates, organophosphates and opioids, which require different management.

  14. Executable Use Cases

    DEFF Research Database (Denmark)

    Jørgensen, Jens Bæk; Bossen, Claus

    2004-01-01

    and into the work processes they're to support. However, prototypes typically provide an explicit representation only of the system itself. Executable use cases, on the other hand, can also describe the environment. EUCs are designed to: narrow the gap between informal ideas about requirements and the formalization...... modeling. This article describes a case study in which developers used EUCs to prototype an electronic patient record system for hospitals in Aarhus, Denmark.......Many software experts argue that when we design a new system, we should create an explicit description of the environment in which the proposed system is to be used. The argument becomes crucial for pervasive computing, which aims to tightly integrate systems into their environments...

  15. Hemimegalencephaly. A Case Report

    International Nuclear Information System (INIS)

    Sánchez Lozano, Ada; Rojas Fuentes, Joan Omar; Rodríguez Roque, María Octavina

    2015-01-01

    Hemimegalencephaly is a disorder of neuronal proliferation that causes an overgrowth of all or part of a cerebral hemisphere. Its pathogenesis is still unknown. We present the case of an adult patient with a history of childhood-onset epilepsy, which was refractory to medical treatment and associated with moderate mental retardation. He was admitted to the hospital for seizure control. Magnetic resonance imaging showed hemispheric asymmetry with enlarged right cerebral hemisphere and poor gray-white matter differentiation. The objective of this paper is to present a rare cause of epilepsy that is usually diagnosed during childhood. Hemimegalencephaly should be suspected in cases of early onset of difficult-to-control epilepsy, especially when associated with macrocephaly and delayed psychomotor development. Timely indication for neuroimaging allows establishing the diagnosis and providing other treatment options. (author)

  16. Zygomatic leiomyoma. Case report.

    Science.gov (United States)

    Robiony, M; Demitri, V; Costa, F; Politi, M

    1996-12-01

    Leiomyoma is a benign tumor that originates from the smooth muscle. If often develops in the uterus and in organs rich of smooth muscle like bowel and subcutaneous tissue. It is infrequently observed in the oral nasal cavities or in paranasal sinuses. The authors, after an accurate revision of the literature, present their first case of zygomatic leiomyoma. They underline the diagnostic aspects in relationship to histologic and immunohistochemical examinations, for surgical therapy.

  17. Alcoholic hallucinosis: case report

    OpenAIRE

    Bárbara Werner Griciunas; Norton Yoshiaki Kitanishi; Patricia Motta Carvalho; Daniel Azevedo Cavalcante; Leonardo Mattiolli Marini

    2017-01-01

    Case report of patient who has been an alcoholic for 40 years and, after reducing alcohol intake, developed auditory and visual hallucinations, which caused behavior change. Neurological issues, electrolyte disturbances and other organ dysfunctions were excluded as cause of said change. After intake of haloperidol and risperidone, the patient had regression of symptoms and denied having presented hallucinatory symptoms. The Manual Diagnóstico e Estatístico de Transtornos Mentais – 5ª edição (...

  18. Kleptomania: a case series

    OpenAIRE

    Saluja, Bharat; Chan, Lai Gwen; Dhaval, Dani

    2014-01-01

    Kleptomania is an enigmatic condition and is among the very few psychiatric disorders in which crime is medicalised and used as a legal defence. The scientific literature on kleptomania is scarce. Early literature and recent studies have shown a female preponderance, with an early age of onset of stealing in people with comorbid personality disorder(s). In a retrospective review of the case notes of theft offenders who had forensic psychiatric evaluations performed in a one-year period in 201...

  19. Case study - Czechoslovakia

    International Nuclear Information System (INIS)

    Kovar, P.

    1986-01-01

    In the lecture Case Study - Czechoslovakia with the sub-title 'Unified System of Personnel Preparation for Nuclear Programme in Czechoslovakia' the actual status and the current experience of NPP personnel training and preparation in Czechoslovakia are introduced. The above mentioned training system is presented and demonstrated by the story of a proxy person who is going to become shift engineer in a nuclear power plant in Czechoslovakia. (orig./HP)

  20. Case report 141

    International Nuclear Information System (INIS)

    Bonfiglio, M.; Platz, C.E.

    1981-01-01

    The case reported represents another example of dedifferentiation occurring in a benign cartilaginous tumor of bone. Osteosarcoma and fibrosarcoma are generally considered to represent the more malignant counterparts of such dedifferentiation, but studies recently have indicated that malignant fibrous histiocytoma may indeed be a common feature in such dedifferentiated lesions. It is stressed that lesions previously designated histologically as malignant giant cell tumor, when dedifferentiation occurs, may represent a special variant of malignant fibrous histiocytoma. (orig./MG)

  1. Case report 140

    International Nuclear Information System (INIS)

    Shives, T.C.; Ivins, J.C.

    1981-01-01

    This case illustrates the importance of familiarity with the radiological features of pigmented villonodular synovitis in a relatively uncommon location. The rather typical appearance of the juxta-articular lesions in bone, characterized by well-defined lyctic areas with sclerotic borders on both sides of a joint, with no appreciable periarticular osteoporosis and little if any joint cartilage thinning, particularly in a young adult, should alert the radiologist and orthopedic clinician to the likely diagnosis of pigmented villonodular synovitis. (orig./MG)

  2. Cystic fibrosis: case report

    International Nuclear Information System (INIS)

    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui

    2002-01-01

    Cystic fibrosis is an autosomal recessive genetic disease. Among Caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic fibrosis varies according to ethnic origin: it is common among Caucasians but rare among Asians. We report a case in which cystic fibrosis with bronchiectasis and hyperaeration was revealed by high-resolution CT, and mutation of the cystic fibrosis conductance transmembrane regulator gene (CFTR) by DNA analysis

  3. Cystic fibrosis: case report

    International Nuclear Information System (INIS)

    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui

    2002-01-01

    Cystic fibrosis is a autosomal recessive genetic disease. Among caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic fibrosis varies according to ethnic origin: it is common among caucasians but rare among Asians. We report a case in which cystic fibrosis with bronchiectasis and hyperaeration was revealed by high-resolution CT, and mutation of the cystic fibrosis conductance transmembrane regulator gene (CFTR) by DNA analysis

  4. Educational Case: Lead Poisoning

    Directory of Open Access Journals (Sweden)

    Barbara E. C. Knollmann-Ritschel MD

    2017-08-01

    Full Text Available The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME, a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040 .

  5. Alkaptonuria: A case report.

    Science.gov (United States)

    Damarla, Nirupama; Linga, Prathima; Goyal, Mallika; Tadisina, Sanjay Reddy; Reddy, G Satyanarayana; Bommisetti, Hymavathi

    2017-06-01

    Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.

  6. Alkaptonuria: A case report

    Directory of Open Access Journals (Sweden)

    Nirupama Damarla

    2017-01-01

    Full Text Available Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis. Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.

  7. Empirical Test Case Specification

    DEFF Research Database (Denmark)

    Kalyanova, Olena; Heiselberg, Per

    This document includes the empirical specification on the IEA task of evaluation building energy simulation computer programs for the Double Skin Facades (DSF) constructions. There are two approaches involved into this procedure, one is the comparative approach and another is the empirical one. I....... In the comparative approach the outcomes of different software tools are compared, while in the empirical approach the modelling results are compared with the results of experimental test cases....

  8. Phagophobia: a case report

    OpenAIRE

    Suraweera, Chathurie; Hanwella, Raveen; de Silva, Varuni

    2014-01-01

    Background Phagophobia is a rare disorder and the literature is sparse. There is no specific treatment described for this life threatening condition. Case presentation The patient is a 25-year-old Sri Lankan female with recurrent difficulty in swallowing. Following her initial episode which lasted one year, she presented to us with inability to swallow for one week. She was dependent on liquids and semisolids. The medical team confidently excluded an organic cause. She had difficulty swallowi...

  9. Psoriasiform Keratosis - Case report*

    Science.gov (United States)

    Pires, Carla Andréa Avelar; de Sousa, Brena Andrade; do Nascimento, Carla do Socorro Silva; Moutinho, Ana Thais Machado; de Miranda, Mario Fernando Ribeiro; Carneiro, Francisca Regina Oliveira

    2014-01-01

    Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis. PMID:24770510

  10. Psoriasiform keratosis - case report.

    Science.gov (United States)

    Pires, Carla Andréa Avelar; Sousa, Brena Andrade de; Nascimento, Carla do Socorro Silva do; Moutinho, Ana Thais Machado; Miranda, Mario Fernando Ribeiro de; Carneiro, Francisca Regina Oliveira

    2014-01-01

    Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis.

  11. Case Studies - Cervical Cancer

    Centers for Disease Control (CDC) Podcasts

    2010-10-15

    Dr. Alan Waxman, a professor of obstetrics and gynecology at the University of New Mexico and chair of the American College of Obstetricians and Gynecologists (ACOG) committee for the underserved, talks about several case studies for cervical cancer screening and management.  Created: 10/15/2010 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP), Division of Cancer Prevention and Control (DCPC).   Date Released: 6/9/2010.

  12. Mills’ syndrome: case report

    OpenAIRE

    Henrique de Gobbi Porto, Fábio; Orsini, Marco; Antônio Araújo Leite, Marco; Moreira dos Santos, José; Pulier, Soraia; Mello, Mariana; Nascimento, Osvaldo J.M.

    2009-01-01

    The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical ...

  13. Automated Test Case Generation

    CERN Multimedia

    CERN. Geneva

    2015-01-01

    I would like to present the concept of automated test case generation. I work on it as part of my PhD and I think it would be interesting also for other people. It is also the topic of a workshop paper that I am introducing in Paris. (abstract below) Please note that the talk itself would be more general and not about the specifics of my PhD, but about the broad field of Automated Test Case Generation. I would introduce the main approaches (combinatorial testing, symbolic execution, adaptive random testing) and their advantages and problems. (oracle problem, combinatorial explosion, ...) Abstract of the paper: Over the last decade code-based test case generation techniques such as combinatorial testing or dynamic symbolic execution have seen growing research popularity. Most algorithms and tool implementations are based on finding assignments for input parameter values in order to maximise the execution branch coverage. Only few of them consider dependencies from outside the Code Under Test’s scope such...

  14. Boerhaave syndrome - case report

    Directory of Open Access Journals (Sweden)

    Biljana Radovanovic Dinic

    Full Text Available ABSTRACT CONTEXT: Boerhaave syndrome consists of spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. It generally develops during or after persistent vomiting as a consequence of a sudden increase in intraluminal pressure in the esophagus. It is extremely rare in clinical practice. In 50% of the cases, it is manifested by Mackler's triad: vomiting, lower thoracic pain and subcutaneous emphysema. Hematemesis is an uncommon yet challenging presentation of Boerhaave's syndrome. Compared with ruptures of other parts of the digestive tract, spontaneous rupture is characterized by a higher mortality rate. CASE REPORT: This paper presents a 64-year-old female patient whose vomit was black four days before examination and became bloody on the day of the examination. Her symptoms included epigastric pain and suffocation. Physical examination showed hypotension, tachycardia, dyspnea and a swollen and painful abdomen. Auscultation showed lateral crackling sounds on inspiration. Ultrasound examination showed a distended stomach filled with fluid. Over 1000 ml of fresh blood was extracted by means of nasogastric suction. Esophagogastroduodenoscopy was discontinued immediately upon entering the proximal esophagus, where a large amount of fresh blood was observed. The patient was sent for emergency abdominal surgery, during which she died. An autopsy established a diagnosis of Boerhaave syndrome and ulceration in the duodenal bulb. CONCLUSION: Boerhaave syndrome should be considered in all cases with a combination of gastrointestinal symptoms (especially epigastric pain and vomiting and pulmonary signs and symptoms (especially suffocation.

  15. Case Study - Alpha

    Directory of Open Access Journals (Sweden)

    Stephen Leybourne

    2016-11-01

    Full Text Available This case study was developed from an actual scenario by Dr. Steve Leybourne of Boston University.  The case documents the historical evolution of an organization, and has been used successfully in courses dealing with organizational and cultural change, and the utilization of ‘soft skills’ in project-based management. This is a short case, ideal for classroom use and discussion.  The issues are easily accessible to students, and there is a single wide ranging question that allows for the inclusion of many issues surrounding strategic decision-making, and behavioural and cultural change. Alpha was one of the earlier companies in the USA to invest in large, edge-of-town superstores, with plentiful free vehicle parking, selling food and related household products. Alpha was created in the 1950s as a subsidiary of a major publicly quoted retail group.  It started business by opening a string of very large discount stores in converted industrial and warehouse premises in the south of the United States. In the early days shoppers were offered a limited range of very competitively priced products. When Alpha went public in 1981 it was the fourth largest food retailer in the US, selling an ever-widening range of food and non-food products.  Its success continued to be based on high volume, low margins and good value for money, under the slogan of ‘Alpha Price.’

  16. Improving Casing Integrity by Induction Brazing of Casing Connections

    NARCIS (Netherlands)

    Ernens, Dennis; Hariharan, Hari; van Haaften, Willem Maarten; Pasaribu, Rihard; Jabs, Matthew; McKim, Richard

    2017-01-01

    Brazing technology allows metallurgical joining of dissimilar materials using a filler material. In this paper brazing technology applied to casing connections is presented. The initial application was triggered by challenges with mechanical and pressure integrity after expansion of casing

  17. RSG Deployment Case Testing Results

    Energy Technology Data Exchange (ETDEWEB)

    Owsley, Stanley L.; Dodson, Michael G.; Hatchell, Brian K.; Seim, Thomas A.; Alexander, David L.; Hawthorne, Woodrow T.

    2005-09-01

    The RSG deployment case design is centered on taking the RSG system and producing a transport case that houses the RSG in a safe and controlled manner for transport. The transport case was driven by two conflicting constraints, first that the case be as light as possible, and second that it meet a stringent list of Military Specified requirements. The design team worked to extract every bit of weight from the design while striving to meet the rigorous Mil-Spec constraints. In the end compromises were made primarily on the specification side to control the overall weight of the transport case. This report outlines the case testing results.

  18. New guidelines for case reports

    Directory of Open Access Journals (Sweden)

    Mario Delgado-Noguera

    2013-09-01

    Full Text Available The case report or case reports are a frequent type of narrative article in the biomedical literature. Case reports are useful to describe unusual clinical cases, identify adverse effects or benefits of therapies. They are also useful for the description of presentation of rare diseases for educational or scientific purposes. Several groups have worked on reporting guidelines for other designs such as the case of clinical trials (CONSORT Statement or observational studies (STROBE Statement and this journal has been adopted as the guide for authors. Recently, there were presented the Guidelines for writing CAseREports (CARE Statement. The aim of this article is to make them known and comment.

  19. A case of peeling

    DEFF Research Database (Denmark)

    Nielsen, Anders

    2016-01-01

    Peeling of paint and plaster from building facades is a well-known phenomenon. This contribution analyses a case of peeling on a villa and its gardens walls, Figure 1. The walls were levelled with cement plaster, before painted with a formally very dense acrylic paint. - The analysis shows...... that the present layer of acryl paint is not very dense because it is applied on a rough plaster surface. - However, the main reason of the peeling seems to be the difference in thermal expansion between the masonry and the cement plaster. It is shown that the peeling takes place both winter and summer....

  20. Lowe syndrome: case report

    Directory of Open Access Journals (Sweden)

    Eva Bahor

    2018-03-01

    Full Text Available Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation.

  1. Gallbladder torsion. Case report

    DEFF Research Database (Denmark)

    Brasso, K; Rasmussen, O V

    1991-01-01

    Gallbladder torsion is a rare surgical emergency occurring primarily in elderly women. The anatomical background is a variation in the attachment of the gallbladder to the inferior margin of the liver. Increasing life span will probably lead to an increasing number of cases, and gallbladder torsion...... must be kept in mind in patients with sudden onset of pain in the upper right quadrant, nausea, vomiting, and a palpable mass. None of the laboratory routines or non-invasive examinations enables one to make the right preoperative diagnosis. Treatment is cholecystectomy. Promptly treated, the prognosis...

  2. NOx trade. Case studies

    International Nuclear Information System (INIS)

    Jantzen, J.

    2002-01-01

    Some of the questions with respect to the trade of nitrogen oxides that businesses in the Netherlands have to deal with are dealt with: should a business buy or sell rights for NOx emission; which measures must be taken to reduce NOx emission; how much must be invested; and how to deal with uncertainties with regard to prices. Simulations were carried out with the MOSES model to find the answers to those questions. Results of some case studies are presented, focusing on the chemical sector in the Netherlands. Finally, the financial (dis)advantages of NOx trade and the related uncertainties for a single enterprise are discussed [nl

  3. [Sirenomelia apus. Case report].

    Science.gov (United States)

    Chávez-Corral, Dora Virginia; Aguilar Torres, Cesar R; Levario-Carrillo, Margarita; Alcalá-Sánchez, Imelda; Fierro-Murga, Ricardo; Arámbula-Almanza, Jaqueline; García-Mendoza, Alejandra

    2011-08-01

    We report a case of Sirenomelia. The mother began prenatal care in the second trimester. Transabdominal ultrasound was determined anhydramnios, cardiac abnormalities and lumbosacral spine. We obtained a single fetus of 21 weeks' gestation with fused lower extremities from the hip to finish in a stump without the presence of feet. Heart with transposition of the great vessels, among other birth defects. It was classified as symelia, Apodi apus, monopodio sirenoide, siren ectropodia, type VI. It is important to diagnose early, because it is a serious and deadly disorder.

  4. Moebius syndrome: case report

    OpenAIRE

    Fontenelle, Lucia; Araujo, Alexandra Prufer de Q.C.; Fontana, Rosiane S.

    2001-01-01

    Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Moebius, possivelmente como resultado de aumento real da sua incidência - já que numerosos fatores ambientais vêm sendo relacionados à gênese dessa síndrome. Dos casos avaliados em dois ambulatórios especializados, vale a pena registrar um deles devido à associação incomum com heterotopia cortical, dentre outras malformações.In the last few years we have been able to diagnose a larger number of case...

  5. Protostylid: A case series

    Directory of Open Access Journals (Sweden)

    S. V. S. G. Nirmala

    2013-01-01

    Full Text Available Human jaws and teeth display a high degree of morphological individuality as they represent personal, family and population characteristics. A protostylid is a supernumerary or accessory cusp located on the mesial half of the buccal surface on the molars that may seldom pose problems while its presence may not be a cause for alarm in most instances. This case report presents a rare finding of protostylid on the buccal surface of the primary molars in 4 children. From the perspective of forensic dentistry, this morphological feature, though uncommon, may be useful for classification and identification of victims in mass causalities and bite marks on bodies or inanimate objects.

  6. [A case report: elephantiasis].

    Science.gov (United States)

    Karagöz, Ergenekon; Karaahmetoğlu, Gökhan; Acar, Ali; Turhan, Vedat; Oncül, Oral; Görenek, Levent

    2012-01-01

    Klippel-Trenaunay syndrome (KTS) is a rare disease and a syndrome that is characterized by the triad of congenital port wine stains,venous malformations with or without varicose veins, bone or soft tissue hypertrophy. Lymphatic filariasis is a filarial disease which usually occurs with genital anomalies, pathologies associated with lymphedema or elephantiasis caused by a filarial infectious agent. In this case report, a 20-year-old male patient admitted to our clinic for diagnosis and treatment with right leg edema and lesions compatible with dermatological manifestations. In the list of differential diagnosis, filarial elephantiasis was also thought, consequently KTS was diagnosed. (Turkiye Parazitol Derg 2012; 36: 188-90).

  7. Lumbar stenosis: clinical case

    Directory of Open Access Journals (Sweden)

    Pedro Sá

    2014-08-01

    Full Text Available Lumbar stenosis is an increasingly common pathological condition that is becoming more frequent with increasing mean life expectancy, with high costs for society. It has many causes, among which degenerative, neoplastic and traumatic causes stand out. Most of the patients respond well to conservative therapy. Surgical treatment is reserved for patients who present symptoms after implementation of conservative measures. Here, a case of severe stenosis of the lumbar spine at several levels, in a female patient with pathological and surgical antecedents in the lumbar spine, is presented. The patient underwent two different decompression techniques within the same operation.

  8. Radiation myelopathy (case presentation)

    International Nuclear Information System (INIS)

    Sangheli, M.; Lisnic, V.; Plesca, S.; Odainic, O.; Chetrari, L.

    2009-01-01

    The radiotherapy is one of the most widely spread and commonly used method in treating tumors of different localization. A detailed analysis of benefits and possible side effects along with evaluation of the risk factors allows preventing one of the most difficult complication, and namely the radiation myelopathy. The delayed form of such a disease is distinguished by a pronounced unfavorable prognosis. The presented case provoked the discussion of difficulties in performing differential diagnosis, as well as the importance of determining the localization of vulnerable tissues as regards the target organ exposed to radiotherapy. (authors)

  9. Thallium intoxication. Case Report.

    Science.gov (United States)

    Sojáková, Michaela; Žigrai, Miroslav; Karaman, Andrej; Plačková, Silvia; Klepancová, Petra; Hrušovský, Štefan

    2015-01-01

    We report a rare case of serious voluntary intoxication by laboratory thallium monobromate combined with alcohol intake by a 24-years old man. The diagnosis of thallium intoxication was based on history, nonspecific but typical clinical symptoms including gastrointestinal complaints, painful polyneuropathy, alopecia, and confirmed by the finding of increased thallium concentration in the urine. The treatment, performed at the due time, consisted of decontamination of the stomach by irrigation, administration of active charcoal and Prussian blue, correction of water and mineral dysbalance, symptomatic treatment, and led to complete recovery.

  10. Spinal Neurocysticercosis: Case Report

    International Nuclear Information System (INIS)

    Amaya P, Melina; Roa, Jose L

    2011-01-01

    Neurocysticercosis (NCC) is the most frequent parasitic illness of the central nervous system caused by the larval form of Taenia solium and its considered to be endemic in Latin America. Its diagnosis is based on imaging findings and epidemiological data; although its diagnosis can be made through the detection of specific IgG antibodies, these tests have limited availability in our environment. Central nervous system involvement is generally observed in the brain parenchyma, and less commonly in the ventricular system and subarachnoid space; only infrequently is reported to involve the structures within the spinal canal, in this article we review a case of a patient with spinal cysticercal involvement.

  11. Tattoo reaction: Case series

    Directory of Open Access Journals (Sweden)

    Muneer Mohamed

    2018-04-01

    Full Text Available Tattoo is going to be a very common practice especially among young people and we are witnessing a gradual increase of numerous potential complications to tattoo placement which are often seen by physicians, but generally unknown to the public. The most common skin reactions to tattoo include a transient acute inflammatory reaction due to trauma of the skin with needles and medical complications such as superficial and deep local infections, systemic infections, allergic contact dermatitis, photodermatitis, granulomatous and lichenoid reactions, and skin diseases localized on tattooed area (eczema, psoriasis, lichen, and morphea. In this series we present three cases of tattoo reaction.

  12. OBSESSIONS: CASE REPORT STUDY

    Directory of Open Access Journals (Sweden)

    Miloš Židanik

    2004-01-01

    Full Text Available Background. Obsessions are one of the most refractory psychiatric disorders. The therapeutic guidelines include a psychopharmacotherapy and the use of behavioural and supportive psychotherapy.Methods. This case report study presents a patient with a homicide obsessions at the forefront and narcissistic personality disorder in background. The use of analytical oriented psychotherapy, which helped to resolve axis-1 symptoms, is described.Conclusions. In the therapy of patients it is important to have the knowledge about the national therapeutic guidelines and critical distance toward them as well. Which therapy to use should be decided by the individual patient’s needs.

  13. Case Study: Guidelines for Producing Videos to Accompany Flipped Cases

    Science.gov (United States)

    Prud'homme-Généreux, Annie; Schiller, Nancy A.; Wild, John H.; Herreid, Clyde Freeman

    2017-01-01

    Three years ago, the "National Center for Case Study Teaching in Science" (NCCSTS) was inspired to merge the case study and flipped classroom approaches. The resulting project aimed to create the materials required to teach a flipped course in introductory biology by assigning videos as homework and case studies in the classroom. Three…

  14. Regional odontodysplasia: case report

    Directory of Open Access Journals (Sweden)

    Ana Carolina Magalhães

    2007-12-01

    Full Text Available Regional odontodysplasia (RO is a rare developmental anomaly involving both mesodermal and ectodermal dental components in a group of contiguous teeth. It affects the primary and permanent dentitions in the maxilla and mandible or both jaws. Generally it is localized in only one arch. The etiology of this dental anomaly is uncertain. Clinically, affected teeth have an abnormal morphology, are soft on probing and typically discolored, yellow or yellowish-brown. Radiographically, the affected teeth show a "ghostlike" appearance. This paper reports the case of a 5-year-old girl presenting this rare anomaly on the left side of the maxillary arch, which crossed the midline. The primary maxillary left teeth (except for the canine and the primary maxillary right central incisor were missing due to previous extractions. The permanent teeth had a "ghostlike" appearance radiographically. The treatment performed was rehabilitation with temporary partial acrylic denture and periodic controls. In the future, the extraction of affected permanent teeth and rehabilitation with dental implants will be evaluated. The presentation of this case adds valuable information to pediatric dentists to review special clinical and radiographic features of RO, which will facilitate the diagnosis and treatment of patients with this condition.

  15. Coinfection: A Case Report

    Directory of Open Access Journals (Sweden)

    Huldah I. Nwokeukwu

    2013-01-01

    Full Text Available Background. Tuberculosis is a major public health problem, and its control has been facing a lot of challenges with emergence of HIV. The occurrence of multidrug-resistant strain has also propounded the problem especially in children where diagnosis is difficult to make. Multidrug-resistant tuberculosis (MDR-TB is in vitro resistant to isoniazid (H and rifampicin (R. Paediatric multi-drug resistant tuberculosis with HIV coinfection is rare, and there is no documented report from Nigeria. Objective. To report a case of paediatric MDR-TB in Nigeria about it. Methods. The case note of the patient was retrieved, and relevant data were extracted and summarized. Results. A 9-year-old female HIV-positive pupil with a year history of recurrent cough, 3 months history of recurrent fever, and generalized weight loss was diagnosed and treated for tuberculosis but failed after retreatment. She was later diagnosed with MDR-TB and is presently on DOT-Plus regimen. Conclusion. Paediatric MDR-TB with HIV co-infection is rare. Early diagnosis and treatment is important to prevent spread of the disease. The use of Isoniazid preventive therapy is recommended for children who come in contact with patients with active tuberculosis and also for HIV patients without active tuberculosis.

  16. [Neuroretinitis. Clinical cases].

    Science.gov (United States)

    Valverde-Gubianas, M; Ramos-López, J F; López-Torres, J A; Toribio-García, M; Milla-Peñalver, C; Gálvez Torres-Puchol, J; Medialdea-Marcos, S

    2009-08-01

    Evaluate the etiology and the most frequent funduscopic alterations of the neuroretinitis. We present the case of a woman 24 years old with a bilateral decrease of visual sharpness (AV), painless and progressive, the funduscopic examination of which reveals a bilateral optical disc edema, with no hemorrhages or exudates, retina edema of the posterior pole and phlebitic areas. The systematic study was normal except for the hemogram (18,000/mm(3) leucocytes with 79% neutrophils) and the positive serology next to a Chlamydia. We also present the case of a 64 years old woman with a decrease of AV at the right eye of one week duration. At the back of the eye a macular star can be seen, and papilla edema. A systematic study gave normal results and positive serology at Bartonella henselae. The illness produced by a cat scratch is the most common cause of neuroretinitis. The customary findings are a loss of AV, discromatopsia, afferent papillary defects and abnormality on the visual field. Other frequent findings at the back of the eye are hemorrhagic nerve fibers, cotton-like exudates, papilla edema, macular star and glassy inflammation. The roll of antibiotic therapy is questionable. Oral ciprofloxacine seems to give good results.

  17. The laryngocele; case presentation

    Directory of Open Access Journals (Sweden)

    Gabriel V. Berteșteanu

    2016-05-01

    Full Text Available Laryngocele is a rare pathology, but because of their clinical evolution and the symptoms they generate, they should always be considered as a differential diagnosis when investigating neck masses. A laryngocele is basically a herniation of the mucosa of the laryngeal ventricle (Morgagni's ventricle arising usually from the saccular region. This herniation may remain confined to the larynx - in which case the laryngocele is internal- or expand through the thyro-hyoid membrane into the structures of the neck - thus being called an external laryngocele. Usually the laryngocele has both an internal and external component thus being a mixed laryngocele. Diagnosis of laryngoceles still relies heavily on clinical signs such as tympanism, easily depressible neck mass, indirect laryngoscopy, but is now simplified by imagistic investigations (ultrasound, CT and MRI. However, the treatment of this condition is exclusively surgical and consists of total excision of the laryngocele, as well as proper identification of the point of origin from the saccule and also the final suture of the breach in order to prevent recurrence. Investigation of possible causes of obstruction of the laryngeal ventricle should always be performed (because of the possibility of an underlying malignancy as well as a follow-up protocol of the patient, given the risk of relapse. We present a recently diagnosed case of a 32 year old man with mixed laryngocele, which we have operated in our clinic.

  18. Fantom pain: Case report

    Directory of Open Access Journals (Sweden)

    Marić Sanja S.

    2017-01-01

    Full Text Available Background Phantom limb pain is a common problem after limb amputation (41-85%. It is described as an extremely painful sensation in the missing part of the body that can last for hours, days or even years. It is considered to arise from cortical reorganization, although many factors can increase the risk of phantom limb pain: pain before surgery, age and sex of the patients, the time elapsed since surgery, stump pain, inadequate prosthesis. Phantom limb pain therapy is very complicated. Case report We reported a case of 80-year-old patient suffering from phantom limb pain and phantom sensation 25 years after the amputation of his left leg due to the injury. The patient has pain at the site of amputation, sensation that he has the leg and that it occupies an unusual position and almost daily exhausting phantom limb pain (6-9 visual analogue scale - VAS with disturbed sleep and mood. We managed to reduce the pain under 4 VAS and decrease the patient suffering by combining drugs from the group of coanalgetics (antidepressants, antiepileptics, non-pharmacological methods (transcutaneous electroneurostimulation - TENS, mirror therapy and femoral nerve block in the place of disarticulation of the left thigh. Conclusion Phantom limb pain therapy is multimodal, exhausting for both the patient and the physician and it is often unsuccessful. The combination of different pharmacological and non-pharmacological modalities can give satisfactory therapeutic response.

  19. Case of spontaneous ventriculocisternostomy

    Energy Technology Data Exchange (ETDEWEB)

    Yamane, Kanji; Yoshimoto, Hisanori; Harada, Kiyoshi; Uozumi, Tohru [Hiroshima Univ. (Japan). School of Medicine; Kuwabara, Satoshi

    1983-05-01

    The authors experienced a case of spontaneous ventriculocisternostomy diagnosed by CT scan with metrizamide and Conray. Patient was 23-year-old male who had been in good health until one month before admission, when he began to have headache and tinnitus. He noticed bilateral visual acuity was decreased about one week before admission and vomiting appeared two days before admission. He was admitted to our hospital because of bilateral papilledema and remarkable hydrocephalus diagnosed by CT scan. On admission, no abnormal neurological signs except for bilateral papilledema were noted. Immediately, right ventricular drainage was performed. Pressure of the ventricle was over 300mmH/sub 2/O and CSF was clear. PVG and PEG disclosed an another cavity behind the third ventricle, which was communicated with the third ventricle, and occlusion of aqueduct of Sylvius. Metrizamide CT scan and Conray CT scan showed a communication between this cavity and quadrigeminal and supracerebellar cisterns. On these neuroradiological findings, the diagnosis of obstructive hydrocephalus due to benign aqueduct stenosis accompanied with spontaneous ventriculocisternostomy was obtained. Spontaneous ventriculocisternostomy was noticed to produce arrest of hydrocephalus, but with our case, spontaneous regression of such symptoms did not appeared. By surgical ventriculocisternostomy (method by Torkildsen, Dandy, or Scarff), arrest of hydrocephalus was seen in about 50 to 70 per cent, which was the same results as those of spontaneous ventriculocisternostomy. It is concluded that VP shunt or VA shunt is thought to be better treatment of obstructive hydrocephalus than the various kinds of surgical ventriculocisternostomy.

  20. Aglossia: Case Report.

    Science.gov (United States)

    Bommarito, Silvana; Zanato, Luciana Escanoela; Vieira, Marilena Manno; Angelieri, Fernanda

    2016-01-01

    Introduction Aglossia is a rare condition caused by failure of the tongue embryogenesis process (in the fourth to eighth weeks of gestation). The tongue is an organ used in different activities such as sucking, swallowing, chewing, and talking. It is also responsible for shaping palate dental arches (in its absence, they become atrophic). There are few similar cases reported in the literature. Objective To describe a rare case of aglossia and the multidisciplinary professionals working together for 5 years to treat the patient. Resumed Report An 8-year-old girl with aglossia had an assessment comprising: (1) clinical assessment of the stomatognathic system related to resting posture, tonus, and mobility; (2) orthodontic assessment; (3) surface electromyography of the chewing muscles; (4) swallowing videofluoroscopy. Conclusion The authors confirmed the need of multidisciplinary cooperation to improve the patient's quality of life, because agenesia implicates many activities/functions that depend on the tongue to fully work. Multiprofessional cooperation helps the patient learn compensation mechanisms.

  1. Aglossia: Case Report

    Directory of Open Access Journals (Sweden)

    Bommarito, Silvana

    2015-01-01

    Full Text Available Introduction Aglossia is a rare condition caused by failure of the tongue embryogenesis process (in the fourth to eighth weeks of gestation. The tongue is an organ used in different activities such as sucking, swallowing, chewing, and talking. It is also responsible for shaping palate dental arches (in its absence, they become atrophic. There are few similar cases reported in the literature. Objective To describe a rare case of aglossia and the multidisciplinary professionals working together for 5 years to treat the patient. Resumed Report An 8-year-old girl with aglossia had an assessment comprising: (1 clinical assessment of the stomatognathic system related to resting posture, tonus, and mobility; (2 orthodontic assessment; (3 surface electromyography of the chewing muscles; (4 swallowing videofluoroscopy. Conclusion The authors confirmed the need of multidisciplinary cooperation to improve the patient's quality of life, because agenesia implicates many activities/functions that depend on the tongue to fully work. Multiprofessional cooperation helps the patient learn compensation mechanisms.

  2. Case Report: HIV test misdiagnosis

    African Journals Online (AJOL)

    Case Study: HIV test misdiagnosis 124. Case Report: HIV ... A positive rapid HIV test does not require ... 3 College of Medicine - Johns Hopkins Research Project, Blantyre,. Malawi ... test results: a pilot study of three community testing sites.

  3. Final report on case studies

    DEFF Research Database (Denmark)

    Ljungberg, Daniel; McKelvey, Maureen; Lassen, Astrid Heidemann

    2012-01-01

    Case study as a research design means investigating a single or multiple instance(s) or setting(s) (i.e. a case) and its entire context to explain a phenomenon and its processes. This is achieved through detailed understanding, usually comprised of multiple sources of information. In this way, case...... studies attempt to provide as a complete an understanding of a (complex) phenomenon as possible. Within the AEGIS project, survey and case study research are complementary. They are complementary in the sense that the former can provide more generalizable evidence on a phenomenon in terms of cross......-sectional data, while the latter can provide more in-depth (qualitative) understanding on specific issues. In systematically examining the case studies, however, this report goes beyond a typical single case study. Here we provide a synthesis of 86 case studies. Multiple case studies, following similar focus...

  4. The chronic exposure case

    International Nuclear Information System (INIS)

    Barescut, Jean-Claude

    2006-01-01

    Until now radioprotection was mainly concerned with situations where radioactivity may be a distinguished stress source. This is for example the case of workers and critical groups around facilities releasing radioactive effluents. Save the case of weapons tests fall-out and accident fall-out, the areas influenced by the releases were in the past concentrated around the sources. Important improvements made in release control contributed to dampen singularities around the source point by optimizing dispersal conditions and by redirecting the main part of the fluxes towards waste repositories. A general increase of background radioactive noise cannot be excluded, particularly in the case of long life radionuclides. This is for example the case of 129 I whose regular increase in rain and ground may be seen even in Germany more than thousands of km away from the main sources. Another important contributor to background noise is mining activity that contributes to releasing radionuclides and chemicals that were trapped in geological structures with few communications with biosphere. For many radionuclides the situation is even improving (residual consequences of fall-out) but we have to anticipate what could be a steady state situation in case of a more generalized use of nuclear application in the world. That would necessarily imply more reprocessing plants, more waste repositories in exploitation phase or in degradation phase and accidents and incidents from time to time. For these reasons, radioprotection has to evolve from an approach dedicated to small and perfectly identified populations to an approach dealing with population of a regional or world size. This change of targets has important consequences. It is obviously completely unlikely for an individual to be part of thousands of very small critical groups but it is quite possible to be exposed to thousands of small risks simultaneously when each one concerns very large populations. This is why risk levels

  5. A case of unilateral dysmenorrhea

    Directory of Open Access Journals (Sweden)

    Tulon Borah

    2010-01-01

    Full Text Available Unilateral dysmenorrhea in an adolescent may be associated with uterine malformation. Relevant investigations in suspected cases and timely intervention can prevent future complications in such cases. Here, we present a case of unicornuate uterus with rudimentary horn in an adolescent complaining of unilateral dysmenorrhea.

  6. Measles (Rubeola) Cases and Outbreaks

    Science.gov (United States)

    ... Address What’s this? Submit What's this? Submit Button Measles Cases and Outbreaks Language: English (US) Español (Spanish) ... Español: Casos y brotes de sarampión Number of measles cases by year since 2010 Measles cases per ...

  7. Emotion, Engagement, and Case Studies

    Science.gov (United States)

    Herreid, Clyde Freeman; Terry, David R.; Lemons, Paula; Armstrong, Norris; Brickman, Peggy; Ribbens, Eric

    2014-01-01

    Three college faculty taught large general biology classes using case studies and personal response systems (clickers). Each instructor taught the same eight cases in two different sections, except the questions within the cases differed. In one section the questions were lower order (LO) factual inquiries, and in the other they were largely…

  8. [Metachromatic Leukodystrophy. Case Presentation].

    Science.gov (United States)

    Espejo, Lina María; de la Espriella, Ricardo; Hernández, José Fernando

    Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  9. Nasal Glioma: Case report

    Directory of Open Access Journals (Sweden)

    Ozgur Surmelioglu

    2011-02-01

    Full Text Available Nasal gliomas are rare, benign, congenital tumors that are thought to be result of abnormality in embryonic development. Three types of clinical presentations have been recognized; extranasal, intranasal and combined. Clinically, these masses are non-pulsatile, gray or purple lesions that obstruct the nasal cavity and cause deformity extranasaly. Histologically, they are made up of astrocytic cells, fibrous and vascular connective tissue that is covered with nasal respiratory mucosa. Treatment of the nasal glioma requires a multidisciplinary approach including an radiologist, neurosurgeon and otorhinolaryngologist. Radiological investigation should be performed to describe intracranial extension. In this case, a 2 years old boy with nasal mass that was diagnosed as nasal glioma is reported. . [Cukurova Med J 2011; 36(1.000: 34-36

  10. Nasal Glioma: Case report

    Directory of Open Access Journals (Sweden)

    Ozgur Surmelioglu

    2011-03-01

    Full Text Available Nasal gliomas are rare, benign, congenital tumors that are thought to be result of abnormality in embryonic development. Three types of clinical presentations have been recognized; extranasal, intranasal and combined. Clinically, these masses are non-pulsatile, gray or purple lesions that obstruct the nasal cavity and cause deformity extranasaly. Histologically, they are made up of astrocytic cells, fibrous and vascular connective tissue that is covered with nasal respiratory mucosa. Treatment of the nasal glioma requires a multidisciplinary approach including an radiologist, neurosurgeon and otorhinolaryngologist. Radiological investigation should be performed to describe intracranial extension. In this case, a 2 years old boy with nasal mass that was diagnosed as nasal glioma is reported. . [Cukurova Med J 2011; 36(1: 34-36

  11. Case report: waardenburg syndrome.

    Science.gov (United States)

    Dumayas, Grace Lea; Capó-Aponte, José E

    2015-03-01

    A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

  12. Glomangiomatosis: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Fitzhugh, Valerie A. [Rutgers, the State University of New Jersey-New Jersey Medical School, Department of Pathology and Laboratory Medicine, Newark, NJ (United States); Beebe, Kathleen S. [Rutgers, the State University of New Jersey-New Jersey Medical School, Department of Orthopaedics, Newark, NJ (United States); Wenokor, Cornelia; Blacksin, Marcia [Rutgers, the State University of New Jersey-New Jersey Medical School, Department of Radiology, Newark, NJ (United States)

    2017-10-15

    Glomangiomatosis is a benign vascular variant of a glomus tumor. The lesion represents only 5% of glomus tumors with unusual or atypical features and even fewer glomus tumors with typical features. The lesions are most commonly located in the distal extremities and are multiple, deep, extensive, and often pain producing. They develop from small arteriovenous anastamoses and are most often identified in young adults. The lesions may recur. We present a case of a 33-year-old male who presented clinically with multiple slowly enlarging masses of the leg over a 5-year period, of which one caused significant pain. One of the lesions was reported to be present at birth. Imaging studies were performed and were suggestive of neurofibromatosis. Biopsies from multiple lesions led to an eventual diagnosis of multiple glomangiomatosis. (orig.)

  13. Alcoholic hallucinosis: case report

    Directory of Open Access Journals (Sweden)

    Bárbara Werner Griciunas

    2017-03-01

    Full Text Available Case report of patient who has been an alcoholic for 40 years and, after reducing alcohol intake, developed auditory and visual hallucinations, which caused behavior change. Neurological issues, electrolyte disturbances and other organ dysfunctions were excluded as cause of said change. After intake of haloperidol and risperidone, the patient had regression of symptoms and denied having presented hallucinatory symptoms. The Manual Diagnóstico e Estatístico de Transtornos Mentais – 5ª edição (DSM-V includes alcoholic hallucinosis in the Substance-Induced Psychotic Disorder (alcohol, beginning during abstinence; however, the document is not yet very well accepted among the medical community. The difficulty of the team to confirm the diagnosis of alcoholic hallucinosis lies in the differential diagnosis, as Delirium tremens and severe withdrawal syndrome with psychotic symptoms. Thus, psychopathological differentiation is important, as well as continuity of research and collaboration of other clinical teams in the evaluation.

  14. The flying radiation case

    International Nuclear Information System (INIS)

    Brownell, J.H.; Bowers, R.L.

    1997-01-01

    The Los Alamos foil implosion program has the goal of producing an intense, high-energy density x-ray source by converting the energy of a magnetically imploded plasma into radiation and material energy. One of the methods for converting the plasma energy into thermal energy and radiation and utilizing it for experiments is called the flying radiation case (FRC). In this paper the authors shall model the FRC and provide a physical description of the processes involved. An analytic model of a planar FRC in the hydrodynamic approximation is used to describe the assembly and shock heating of a central cushion by a conducting liner driver. The results are also used to benchmark a hydrodynamics code for modeling an FRC. They then use a radiation-hydrodynamics computational model to explore the effects of radiation production and transport when a gold plasma assembles on a CH cushion. Results are presented for the structure and evolution of the radiation hohlraum

  15. Agressive angiomyxoma: Case report

    Directory of Open Access Journals (Sweden)

    Fatma Eskicioğlu

    2012-09-01

    Full Text Available Aggressive angiomyxoma is a rare benign mesenchymal neoplasm. It is often diagnosed in genital, pelvic and perineal region of women in reproductive ages. Aggressive angiomyxoma is associated with a high risk of local recurrence. Aggressive angiomyxoma is mixed with Bartholin’s gland cyst, lipoma and vaginal cysts in diagnosis. Generally, stromal invasion is detected in these benign neoplasms. Therefore, wide local excision should be performed to treat. GnRH agonists could be administered in patient with aggressive angiomyxoma, either primary or recurrent. We reported a case with vulvar aggressive angiomyxoma presented with vulvar mass and treated with wide local excision. J Clin Exp Invest 2012; 3 (3: 420-422Key words: Angiomyxoma, myxoma, vulvar mass

  16. Wolfram Syndrome. Case report.

    Science.gov (United States)

    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

    2016-01-01

    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  17. Osteomesophycnosis. A new case

    Energy Technology Data Exchange (ETDEWEB)

    Schmidt, H.; Lengerke, H.J. von; Mannkopf, H.; Ullrich, K.

    1989-07-01

    A 10-year old, mentally and physically normally developed girl complained of back pain following an accident. Radiological findings revealed an inhomogeneous, coarse osteosclerosis along the endplates and posterior parts of the ovoid shaped vertebral bodies, in the proximal and distal femora, proximal humeri and tibia epiphyses, and along the lateral aspects of the femoral necks. The pelvis presented a mottled appearance of the trabecular pattern at the symphysis pubis and the lateral parts of ischii and sclerosis in the acetabular region. The only laboratory abnormality was a high serum parathormone level. The family history revealed an autosomal dominant inheritance. The name proposed by Maroteaux for this skeletal disorder is osteomesopycnosis, as the lesions were localized to the spine, pelvis and sometimes proximal femur. The skull, ribs, long bones, hands and feet were not involved in the reported 12 cases. Radiographs of this patient showed in addition changes in the hand. This disease must be distinguished from atypical axial osteomalacia. (orig.).

  18. Yeast Interacting Proteins Database: YLR175W, YNL124W [Yeast Interacting Proteins Database

    Lifescience Database Archive (English)

    Full Text Available n ortholog dyskerin cause the disorder dyskeratosis congenita Rows with this bait as bait (1) Rows with this...dyskerin cause the disorder dyskeratosis congenita Rows with this bait as bait Ro

  19. Atopia e auto-imunidade: A propósito de um caso clínico Atopy and autoimmunity: A case report

    Directory of Open Access Journals (Sweden)

    M Alfaro

    2007-09-01

    Full Text Available Atopia, imunodeficiência e auto- imunidade são manifestações de disfunção do sistema imunológico. A atopia e a auto-imunidade são classicamente referidas como reacções imunológicas distintas. Estudos recentes sugerem a existência de possíveis mecanismos patogénicos comuns. Descrevemos o caso de uma adolescente com antecedentes familiares de asma brônquica e de miastenia gravis materna (HLA-B8 e com antecedentes pessoais de infecções respiratórias altas de repetição dos dois aos quatro anos, iniciando as pneumonias desde os cinco anos (3-4 por ano, em 3 anos consecutivos, associados a dispneia e hipoxemia, necessitando com frequência de internamento hospitalar. Na investigação efectuada os marcadores de atopia revelaram-se inicialmente negativos, sendo excluídas outras hipóteses, como tuberculose, fibrose quística, défice de α-1 anti-tripsina, cardiopatia congénita, malformações broncopulmonares ou aspiração de corpo estranho. Mais tarde, a repetição das análises confirmou finalmente atopia com IgE, RAST e testes de sensibilidade cutânea positivos (ácaros e pólenes. Foram detectados imunocomplexos circulantes e défice de IgG2, 3 e 4. O estudo dos auto-anticorpos mais frequentes e das precipitinas foi negativo e o estudo dos antigénios de histocompatibilidade revelou a presença de HLA-B8 (idêntico ao materno. A cintigrafia de ventilação-perfusão e as provas de função respiratória foram normais. Fez terapêutica com anti-histamínicos, corticóides tópicos e broncodilatadores, verificando-se a diminuição progressiva do número de infecções respiratórias e boa evolução clínica. Aos 16 anos voltou a ser internada, desta vez com o diagnóstico de eritema nodoso e suspeita clínica de sindroma de Sweet, com boa evolução. A relação entre atopia e auto-imunidade é enfatizada pelos autores, não correspondendo a sua ocorrência concomitante a uma associação meramente estatística, mas a um

  20. FMCT verification: Case studies

    International Nuclear Information System (INIS)

    Hui Zhang

    2001-01-01

    Full text: How to manage the trade-off between the need for transparency and the concern about the disclosure of sensitive information would be a key issue during the negotiations of FMCT verification provision. This paper will explore the general concerns on FMCT verification; and demonstrate what verification measures might be applied to those reprocessing and enrichment plants. A primary goal of an FMCT will be to have the five declared nuclear weapon states and the three that operate unsafeguarded nuclear facilities become parties. One focus in negotiating the FMCT will be verification. Appropriate verification measures should be applied in each case. Most importantly, FMCT verification would focus, in the first instance, on these states' fissile material production facilities. After the FMCT enters into force, all these facilities should be declared. Some would continue operating to produce civil nuclear power or to produce fissile material for non- explosive military uses. The verification measures necessary for these operating facilities would be essentially IAEA safeguards, as currently being applied to non-nuclear weapon states under the NPT. However, some production facilities would be declared and shut down. Thus, one important task of the FMCT verifications will be to confirm the status of these closed facilities. As case studies, this paper will focus on the verification of those shutdown facilities. The FMCT verification system for former military facilities would have to differ in some ways from traditional IAEA safeguards. For example, there could be concerns about the potential loss of sensitive information at these facilities or at collocated facilities. Eventually, some safeguards measures such as environmental sampling might be seen as too intrusive. Thus, effective but less intrusive verification measures may be needed. Some sensitive nuclear facilities would be subject for the first time to international inspections, which could raise concerns

  1. The case for the case report: refine to save.

    LENUS (Irish Health Repository)

    Lennon, P

    2012-01-31

    INTRODUCTION: The case report is the cornerstone of both medical teaching and writing. However, during recent years the value of the case report has been questioned, so much so that it has been abandoned by many journals. The aim of this study was to assess case reports published by the Irish Journal of Medical Science (IJMS) and to examine ways to preserve this type of article. METHODS: A review of all single-patient case reports published in the IJMS in 2008 and 2009. RESULTS: Forty-eight cases were published from nine countries. The range of authors was 2-11, length 525-1,787 words and number of references 4-24. All cases contained abstracts. CONCLUSION: Stricter guidelines with regards to a shorter more focused article should help to preserve this form of publication.

  2. Scleroderma: a case report

    Science.gov (United States)

    Harahap, T. A.; Marpaung, B.

    2018-03-01

    Scleroderma is a complex disease in which extensive fibrosis, vascular alterations, and autoantibodies against various cellular antigens are among the principal features.[1,2] The prevalenceranging from 50 to 300 cases per 1 million persons with women are at much higher risk. The average age of diagnosis is the fifth decades of life.[2] There is no cure for scleroderma, but many of its problems and complications can be treated.[3-7]A 54-year-old female patient with main complains limitation of motion and mouth, stiffness and painful joints in the hands and feet, thickening on the skin in the chest and trunk for eight years, purplish red spots on arms and legs intermittent for tenyears. On physical examination found sclerosis lesions, sclerodactyly on fingers and toes, telangiectasias in the antebrachii and cruris region. On laboratory, examination showed ANA test 10.7 and Anti DS DNA 123. The histopathological of the skin result is scleroderma. The patient was diagnosed with scleroderma and treated with methotrexate 7.5 mg/weeks, ciclosporin 2×100 mg/day, omeprazole 2×20 mg. After seven days of therapy, there is aclinical improvement, and the patient becomes anoutpatient treatment.

  3. The case for iron

    International Nuclear Information System (INIS)

    Martin, J.H.; Gordon, R.M.; Fitzwater, S.E.

    1991-01-01

    Excess major nutrients occur in offshore areas ranging from the tropical equatorial Pacific to the polar Antarctic. In spite of the great ecological differences in these environments, the authors believe they share a common trait: iron deficiency. Here they present the case of iron; they point out that all of these areas are far from Fe-rich terrestrial sources and that atmospheric dust loads in these regions are among the lowest in the world. The authors summarize experiments performed in three nutrient-rich areas: The Gulf of Alaska, the Ross Sea, and the equatorial Pacific. In general, populations without added Fe doubled at rates 11-40% of the expected maxima at various temperatures. The additions of nanomole quantities of Fe increased these doubling rates by factors of 2-3. In spite of the lack of Fe, tightly coupled phytoplankton/zooplankton communities seem to inhabit these major nutrient-rich areas. Since Fe is required for the synthesis of chlorophyll and nitrate reductase, little chlorophyll is found and NH 3 is the favored N source. Normal rate values of specific productivity indicate that these populations are healthy, but limited by the insufficient Fe supply. When Fe becomes available either artificially in bottle experiments or in the environment as Fe-rich land masses are approached, diatoms quickly bloom, chlorophyll levels increase, and nutrient stocks are rapidly depleted. These combined results indicate that Fe availability is the primary factor controlling phytoplankton production in nutrient-rich areas of the open sea

  4. The LMFBR safety case

    International Nuclear Information System (INIS)

    Smith, D.

    1990-01-01

    The main objective of this report is to review the present status of the safety case for the liquid metal cooled fast reactor (FBR). A particular emphasis is placed on activities in Europe where the FBR has been progressively developed for many years during which time systems have passed from small experimental plants to the 1200 MWe SPX-1. The FBR has been found to be an easily controlled plant with low impact on the environment and low dose rates to operational personnel. Aspects of reactor design and associated R and D that are required for FBRs to be licensed and the progress made to meet these requirements are described. Fault conditions in the credible range can be dealt with safely, the FBR having several advantageous characteristics which assist safety. Also measures are foreseen to mitigate potential consequences of more severe but improbable accidents. This study sponsored by the Commission of the European Communities was carried out by Colenco Ltd in vlose collaboration with the Safety Working Group (SWG) which is a subgroup of the CEC Fast Reactor Coordinating Committee (FRCC)

  5. Case consultation: ablatio penis.

    Science.gov (United States)

    Money, J

    1998-01-01

    In male infants, traumatic ablation of the penis, with or without loss of the testicles may occur as a sequel to mutilatory violence, accidental injury, or circumcision error. Post-traumatically, one program of case management is surgical sex reassignment to live as a girl, with female hormonal therapy at the age of puberty. The other program is genital reconstructive surgery to live as a boy, with male hormonal therapy at puberty if the testicles are missing. In both programs, the long term outcome is less than perfect and is contingent on intervening variables that include societal ideology; surgical technology; juvenile and adolescent timing and frequency of hospital admissions construed by the child as nosocomial abuse; development of body image; health and sex education; fertility versus sterility; coitus and orgasm; possible lesbian orientation if living as a girl; and long-term cost accounting, including the psychic cost of being a pawn in possible malpractice litigation on whose disability a very large fortune in compensation may devolve. There is, as yet, no unanimously endorsed set of guidelines for the treatment of genital trauma and mutilation in infancy, and no provision for a statistical depository for outcome data.

  6. Pseudoachondroplasia: A case report

    Directory of Open Access Journals (Sweden)

    Radlović Vladimir

    2013-01-01

    Full Text Available Introduction. Pseudoachondroplasia (PSACH is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents. Case Outline. A 6.5-year-old girl presented with short-limbed dwarfism (body height 79.5 cm,

  7. Multiple myeloma: 45 cases

    International Nuclear Information System (INIS)

    Yang, Hee Chul; Suh, Jin Suck; Park, Chang Yun

    1990-01-01

    We evaluated 45 cases of multiple myelomas retrospectively confirmed in Severance Hospital from the period of 1983-1989. In order to assess the radiologic features of the multiple myeloma and to assist in possible early diagnosis and treatment. The result were as follows: 1. IgG(41%) was the most common immunoglobulin type secreted followed by light chain(36%). IgA(19%) and IgD(2%). Two percent of the patients had non-secretory type. 89% of patients were in their stage III of the disease. 2. Among the 45 patients, 96% had abnormal plain radiographic findings with average number of 4.5 lesions. Common sites were the spine, rib, skull, pelvis, and humerus in descending orders. The findings were localized or diffuse osteolytic bone destruction(85%). osteoporosis(49%), pathologic fracture and endosteal scalloping(55%). Osteoporosis was more prominent in stage III than stage II. 3. Both plain X-ray and radioisotope study was available for comparison in 28 patients. Concordance between the two studies were 44%, lesions detected only on plain X-ray film were 51%, and lesions detected only on the radioisotope were 5%. The plain radiography was able to detect only 54% of bone lesions confirmed by bone marrow biopsy. With the above results, accurate evaluation of bone lesions in multiple myeloma may be difficult with radiologic studies only. But familiarity with these radiologic findings of the this disease entity is necessary for early suspicion of the disease, thus for early diagnosis and treatment

  8. Case of administrative dispute

    Directory of Open Access Journals (Sweden)

    Xhemazie Ibraimi

    2015-11-01

    Full Text Available The activity of administrative bodies includes big numbers of various acts and actions, through which the will of public administration is formed. The will of public administration bodies, expressed in administrative individual and normative acts, in administrative contracts and real acts, finds its reflection in the Constitution, laws and other provisions of legal character. All this activity is not inerrant and therefore, it is not uncontrollable. The supervision of executive activity is subject to political control of administrative acts through authorities designated for this purpose, as well as internal control and the judicial control. The institution of judicial control of administrative acts and actions appears as very important and widely treated in the legal doctrine. The protection of constitutional and legal rights of private persons is accomplished by subjecting administrative activity both to internal administrative control, as well as to the judicial control in accordance with legal provisions. The judicial control of administrative acts represents a constitutional guarantee for citizens to protect their rights through public and fair trial by an independent and impartial court. In this way, the Constitution empowers the common administrative court that invalidates an action or administrative act, but not all administrative acts may be subject to administrative dispute, with the exception of cases against which the administrative conflict cannot be carried out (negative enumeration.

  9. Patellar osteochondroma: case report,

    Directory of Open Access Journals (Sweden)

    Frederico Barra de Moraes

    2014-04-01

    Full Text Available The aim was to report on a rare case of patellar osteochondroma. A 60-year-old man presented a tumor on his left patella that had developed over a 10-year period, which is a rare occurrence, considering the patient's age and the site at which the tumor appeared. The clinical condition comprised mild pain and the presence of a mass, without limitation of flexion-extension or any neurovascular deficit. The tumor dimensions were 8 cm longitudinally × 6 cm transversally × 3 cm anteroposteriorly. It was hardened and was adhering to the patellar bone plane. On radiographs and tomographic scans, we observed areas of greater density corresponding to bone and other less dense areas that could correspond to slow-growing cartilage, with irregularities on the patellofemoral joint surface. Simple resection of the tumor was performed, and the anatomopathological examination confirmed that it was a patellar osteochondroma. Osteochondroma, or osteocartilaginous exostosis, includes a large proportion of the benign bone tumors. It results from cell alterations that trigger unregulated production of spongy bone. It is basically treated by means of surgical removal of the tumor mass. This is not essential, but is recommended in order to avoid lesions caused by contiguity and the risk of malignant transformation.

  10. Childhood obesity case statement.

    Science.gov (United States)

    Esposito, Paul W; Caskey, Paul; Heaton, Lisa E; Otsuka, Norman

    2013-04-01

    The goal of this publication is to raise awareness of the impact of childhood obesity on the musculoskeletal health of children and its potential long-term implications. Relevant articles dealing with musculoskeletal disorders either caused by or worsened by childhood obesity were reviewed through a Pub Med search. Efforts to recognize and combat the childhood obesity epidemic were also identified through Internet search engines. This case statement was then reviewed by the members of the pediatric specialty group of the US Bone and Joint Initiative, which represents an extensive number of organizations dealing with musculoskeletal health. Multiple musculoskeletal disorders are clearly caused by or worsened by childhood obesity. The review of the literature clearly demonstrates the increased frequency and severity of many childhood musculoskeletal disorders. Concerns about the long-term implications of these childhood onset disorders such as pain and degenerative changes into adulthood are clearly recognized by all the member organizations of the US Bone and Joint Initiative. It is imperative to recognize the long-term implications of musculoskeletal disorders caused by or worsened by childhood obesity. It is also important to recognize that the ability to exercise comfortably is a key factor to developing a healthy lifestyle and maintaining a healthy body weight. Efforts to develop reasonable and acceptable programs to increase physical activity by all facets of society should be supported. Further research into the long-term implications of childhood musculoskeletal disorders related to childhood obesity is necessary. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. Arthrogryposis - case report

    Directory of Open Access Journals (Sweden)

    Mariana CEVEI

    2008-05-01

    Full Text Available Arthrogryposis is a congenital disorder characterized by multiple joint contractures found throughout the body at birth. We present the case of a 3.5 year-old girl with multiple congenital defects: arthrogryposis involving bilateral hip, knee and ankle joints, together with sacral agenesis and with lumbar dysmorphism, anorectal agenesis, hydronephrosis of the left kidney as the result from reflux, right kidney hypoplasia, renal fusion and heart anomalies: tetralogy of Fallot. Immediately after birth, in several steps, colostomy, left ureterocystoneostomy and suprapubic cystostomy were performed. Later in infancy corrective surgery for the heart defect was required. At the age of 2 years, surgery for the equinovarus deformities and for left genu flexum was performed. Medical rehabilitation tries to maximize independent function. The main goals were increasing the muscle tonus of upper-limbs, increase the rate of motion of the joints, establishment of stability for ambulation, learning different schemes of movement according to her needs, obtaining of a functional independency. The therapies were successful, after 10 weeks an improvement of the moving capacity and of the transfer in orthostatism with minimal external assistance, with the obvious increasing of the patient's satisfaction, were noticed.

  12. [Case-non case studies: Principles, methods, bias and interpretation].

    Science.gov (United States)

    Faillie, Jean-Luc

    2017-10-31

    Case-non case studies belongs to the methods assessing drug safety by analyzing the disproportionality of notifications of adverse drug reactions in pharmacovigilance databases. Used for the first time in the 1980s, the last few decades have seen a significant increase in the use of this design. The principle of the case-non case study is to compare drug exposure in cases of a studied adverse reaction with that of cases of other reported adverse reactions and called "non cases". Results are presented in the form of a reporting odds ratio (ROR), the interpretation of which makes it possible to identify drug safety signals. This article describes the principle of the case-non case study, the method of calculating the ROR and its confidence interval, the different modalities of analysis and how to interpret its results with regard to the advantages and limitations of this design. Copyright © 2017 Société française de pharmacologie et de thérapeutique. Published by Elsevier Masson SAS. All rights reserved.

  13. Cryptococcosis in captive cheetah (Acinonyx jubatus : two cases : case report

    Directory of Open Access Journals (Sweden)

    L.A. Bolton

    1999-07-01

    Full Text Available Cryptococcus neoformans is a yeast-like organism associated with pulmonary, meningoencephalitic, or systemic disease. This case report documents 2 cases of cryptococcosis with central nervous system involvement in captive cheetah (Acinonyx jubatus. In both cases the predominant post mortal lesions were pulmonary cryptococcomas and extensive meningoencephalomyelitis. Both cheetahs tested negative for feline immunodeficiency virus and feline leukaemia virus. The organism isolated in Case 2 was classified as Cryptococcus neoformans var. gattii, which is mainly associated with disease in immunocompetent hosts.

  14. Delusional Parasitosis : Series Of 25 Cases

    Directory of Open Access Journals (Sweden)

    Bhatia M S

    1996-01-01

    Full Text Available A series 25 cases of delusional parasitosis is being reported. There were three cases below 45 years, 12 cases between 46-45 years and 11 cases above 55 years of age, 64% cases were females. A majority of cases (92% had insidious onset. The duration of symptoms in all the cases (except one was 6 months or more. 13 cases presented with infestation with insects over body and 10 cases with insects crawling over scalp. There were three cases each with diabetes mellitus and leprosy. Three cased had dementia, 2 cases had depression and one case presented with trichotillomania. Pimozide was used in22 cases, amitriptyline in 2 cases and fluoxetine in one. 14 cases (52% showed complete remission while receiving drug, 8 cases showed partial improvement and 3 cases did not respond.

  15. Membranous Dysmenorrhea: A Case Series

    Science.gov (United States)

    Omar, Hatim A.; Smith, Shawn J.

    2007-01-01

    The purpose was to illustrate the variability of hormonal contraception of patients that presented with membranous dysmenorrheal. A case analysis chart review was completed on six patients referred to a Pediatric Gynecologist in an academic setting. In each case the patient underwent a thorough pelvic and bimanual exam. Following the initial presentation, each patient continued to be followed on a regular visits. Cases: Two were using the transdermal contraceptive patch and oral contraceptive, but following the expulsion of decidual cast, they were both placed on depot medroxyprogesterone acetate (DMPA) without further complications. Three of the six cases were on DMPA prior to the similar occurrence of membranous dysmenorrheal and following this incident, continued on DMPA without further problems. The final case was on the transdermal patch prior to decidual cast expulsion and remained on this form of hormonal contraception without further complications. These cases indicate that membranous dysmenorrheal is not limited to the use of DMPA. PMID:18060329

  16. Pressurized waterproof case electronic device

    KAUST Repository

    Berumen, Michael L.

    2013-01-31

    A pressurized waterproof case for an electronic device is particularly adapted for fluid-tight containment and operation of a touch-screen electronic device or the like therein at some appreciable water depth. In one example, the case may be formed as an enclosure having an open top panel or face covered by a flexible, transparent membrane or the like for the operation of the touchscreen device within the case. A pressurizing system is provided for the case to pressurize the case and the electronic device therein to slightly greater than ambient in order to prevent the external water pressure from bearing against the transparent membrane and pressing it against the touch screen, thereby precluding operation of the touch screen device within the case. The pressurizing system may include a small gas cartridge or may be provided from an external source.

  17. Three cases of pulmonary varix

    Energy Technology Data Exchange (ETDEWEB)

    Takishima, Teruo; Sakuma, Hajime; Tajima, Tsunemi; Okimoto, Takao; Yamamoto, Keiichiro; Dohi, Yutaka (Saitama Medical School (Japan))

    1982-06-01

    Three cases of pulmonary varix associated with valvular heart disease were reported. Round shadows were clearer on first oblique or lateral films of chest x-ray in all 3 cases. On chest tomograms, the shadows were substantial and round-elliptical. RI angiography with sup(99m)Tc-RBC demonstrated these shadows in agreement with the site of influx of the pulmonary vein into the left atrium in Cases 1 and 3 and with the pulmonary vein slightly apart from the left atrium in Case 2. On CT scans in Cases 1 and 3, enhancement with a contrast medium visualized dilatation of the pulmonary vein close to, and in continuation with, the shadow of the left atrium. The diagnosis of pulmonary varix in agreement with the venous phase of pulmonary angiography was made for all 3 cases. Non-surgical examinations (especially CT scan) proved highly useful for the diagnosis of pulmonary varix.

  18. Three cases of pulmonary varix

    International Nuclear Information System (INIS)

    Takishima, Teruo; Sakuma, Hajime; Tajima, Tsunemi; Okimoto, Takao; Yamamoto, Keiichiro; Dohi, Yutaka

    1982-01-01

    Three cases of pulmonary varix associated with valvular heart disease were reported. Round shadows were clearer on first oblique or lateral films of chest x-ray in all 3 cases. On chest tomograms, the shadows were substantial and round-elliptical. RI angiography with sup(99m)Tc-RBC demonstrated these shadows in agreement with the site of influx of the pulmonary vein into the left atrium in Cases 1 and 3 and with the pulmonary vein slightly apart from the left atrium in Case 2. On CT scans in Cases 1 and 3, enhancement with a contrast medium visualized dilatation of the pulmonary vein close to, and in continuation with, the shadow of the left atrium. The diagnosis of pulmonary varix in agreement with the venous phase of pulmonary angiography was made for all 3 cases. Non-surgical examinations (especially CT scan) proved highly useful for the diagnosis of pulmonary varix. (Chiba, N.)

  19. Goiania incident case study

    International Nuclear Information System (INIS)

    Petterson, J.S.

    1988-06-01

    The reasons for wanting to document this case study and present the findings are simple. According to USDOE technical risk assessments (and our own initial work on the Hanford socioeconomic study), the likelihood of a major accident involving exposure to radioactive materials in the process of site characterization, construction, operation, and closure of a high-level waste repository is extremely remote. Most would agree, however, that there is a relatively high probability that a minor accident involving radiological contamination will occur sometime during the lifetime of the repository -- for example, during transport, at an MRS site or at the permanent site itself during repacking and deposition. Thus, one of the major concerns of the Yucca Mountain Socioeconomic Study is the potential impact of a relatively minor radiation-related accident. A large number of potential impact of a relatively minor radiation-related accident. A large number of potential accident scenarios have been under consideration (such as a transportation or other surface accident which results in a significant decline in tourism, the number of conventions, or the selection of Nevada as a retirement residence). The results of the work in Goiania make it clear, however, that such a significant shift in established social patterns and trends is not likely to occur as a direct outcome of a single nuclear-related accident (even, perhaps, a relatively major one), but rather, are likely to occur as a result of the enduring social interpretations of such an accident -- that is, as a result of the process of understanding, communicating, and socially sustaining a particular set of associations with respect to the initial incident

  20. Isolated adrenal paracoccidioidomycosis: Case report

    International Nuclear Information System (INIS)

    Uribe Castro, Jorge Ricardo; Quintana, Humberto; Puentes, Alix Sofia and others

    2011-01-01

    Even though paracoccidioidomycosis has a relatively high prevalence in Latin America in a systemic form, isolated cases, especially compromising the adrenal glands, are uncommon, with only two reported cases. In this article, we report the case of a 55 year-old male with clinical manifestations of adrenal insufficiency. The only imaging finding was the presence of bilateral adrenal masses. The biopsy showed Paracoccidioides brasiliensis infection.