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%.

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

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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 ...

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.

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...

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

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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 ...

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.

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.

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.

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

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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.

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

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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.

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.

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

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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.

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.

Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia

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Unnati D. Desai

2017-01-01

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

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.

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

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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.

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:

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

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.

Transição para a parentalidade no contexto de cardiopatia congênita do bebê

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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.

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

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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.

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

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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.

Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

Energy Technology Data Exchange (ETDEWEB)

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

2016-01-15

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

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.

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.

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

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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.

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.

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.

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

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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

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.

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

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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.

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

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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.

[Aplasia cutis congenita associated with epidermolysis bullosa].

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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.

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

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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.

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

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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.

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

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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.

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

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

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.

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...

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

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

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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.

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.

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.

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

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

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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

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

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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

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.

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

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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.

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.

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 ...

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...

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

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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

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

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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

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

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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.

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

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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.

Anormalidades cromossômicas entre pacientes com cardiopatia congênita

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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.

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

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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

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

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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

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...

A novel mutation in CLCN1 associated with feline myotonia congenita.

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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.

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...

Parâmetros Ecocardiográficos e Sobrevida na Cardiopatia Chagásica com Disfunção Sistólica Importante

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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.

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.)

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.)

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

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Cristina Olivieri

2017-10-01

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

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.

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

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.

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

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

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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

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

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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

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

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

Directory of Open Access Journals (Sweden)

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

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.

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.

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.

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

Energy Technology Data Exchange (ETDEWEB)

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

1995-01-01

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

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...

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 ...

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

Directory of Open Access Journals (Sweden)

Asylbek Kaparov

2009-12-01

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

Disease: H00507 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00507 Dyskeratosis congenita (DC), including: X-linked dyskeratosis congenita (DK...CX); Autosomal dominant dyskeratosis congenita (DKCA); Autosomal recessive dyskeratosis congenita (DKCB) Dyskeratosis...gene mutations identified to date share a link to telomere/telomerase biology. Moreover, dyskeratosis congen...HSA:55651] [KO:K11129] (DKCB3) WRAP53 [HSA:55135] (DKCB6) PARN [HSA:5073] [KO:K01148] ... Two variants of dyskeratosis... 613990 615190 616553 224230 613987 613988 616353 PMID:18005359 ... AUTHORS ... Kirwan M, Dokal I ... TITLE ... Dyskeratosis

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.

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.

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?

Directory of Open Access Journals (Sweden)

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

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

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

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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

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

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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

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

O problema da hemossiderose pulmonar na doença de Chagas

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Leila Andrade Siqueira

1972-10-01

Full Text Available Os autores estudaram a existência de hemosiderose pulmonar em 60 casou de autopsia, 20 dos quais chagásicos crônicos com cardiopatia, 20 pacientes com cardiopatia não chagásica e 20 casos sem nenhuma manifestação de doença cardíaca. A incidência de hemossiderose pulmonar foi de 75% entre os chagásicos e de 80% entre os pacientes de cardiopatia não chagásica. Nos casos controle sem cardiopatia a incidência foi relativamente baixa (45% e, guando presente, o grau de intensidade era mínimo. Com esses achados, conclui-se que a hemossiderose pulmonar na Doença de Chagas é uma conseqüência da congestão crônica passiva, resultante da insuficiência cardíaca congestiva, do mesmo modo que ocorre em outras condições mórbidas tais como Estenose mitral e Cor-pulmonar crônico, não havendo evidências de uma pneumopatia peculiar em chagásicos.

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

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

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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.

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

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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

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

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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

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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 ...

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.

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

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

Disease: H00788 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available iant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intraut... found in the disease. Developmental disorder DKC1 [HSA:1736] [KO:K11131] ... Dyskeratosis congenita is des...ezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A ... TITLE ... Further delineation of the congenital form of X-linked dyskeratosis

[Recurrent pulmonary infection and oral mucosal ulcer].

Science.gov (United States)

Kuang, Fei-Mei; Tang, Lan-Lan; Zhang, Hui; Xie, Min; Yang, Ming-Hua; Yang, Liang-Chun; Yu, Yan; Cao, Li-Zhi

2017-04-01

An 8-year-old girl who had experienced intermittent cough and fever over a 3 year period, was admitted after experiencing a recurrence for one month. One year ago the patient experienced a recurrent oral mucosal ulcer. Physical examination showed vitiligo in the skin of the upper right back. Routine blood tests and immune function tests performed in other hospitals had shown normal results. Multiple lung CT scans showed pulmonary infection. The patient had recurrent fever and cough and persistent presence of some lesions after anti-infective therapy. The antitubercular therapy was ineffective. Routine blood tests after admission showed agranulocytosis. Gene detection was performed and she was diagnosed with dyskeratosis congenita caused by homozygous mutation in RTEL1. Patients with dyskeratosis congenita with RTEL1 gene mutation tend to develop pulmonary complications. Since RTEL1 gene sequence is highly variable with many mutation sites and patterns and can be inherited via autosomal dominant or recessive inheritance, this disease often has various clinical manifestations, which may lead to missed diagnosis or misdiagnosis. For children with unexplained recurrent pulmonary infection, examinations of the oral cavity, skin, and nails and toes should be taken and routine blood tests should be performed to exclude dyskeratosis congenita. There are no specific therapies for dyskeratosis congenita at present, and when bone marrow failure and pulmonary failure occur, hematopoietic stem cell transplantation and lung transplantation are the only therapies. Androgen and its derivatives are effective in some patients. Drugs targeting the telomere may be promising for patients with dyskeratosis congenita.

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

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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.

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

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.

Alterações do pericárdio na fase crônica da tripanossomíase cruzi humana e nas fases aguda e crônica da moléstia experimental

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P. Raso

1971-06-01

Full Text Available Os Autores estudam as alterações do pericárdio, especialmente do pericárdio visceral na cardiopatia chagásica, confrontando-se com as alterações, observadas em outras cardiopatias (reumáticas e hipertensivas. Analisam as alterações pericárdicas no camundongo experimentalmente infectado e discutem especialmente a natureza e a gênese das lesões, a evolução e a correlação dos vários aspectos morfológicos entre si.

Avaliação da influência de alterações cardíacas na ultrassonografia vascular periférica de idosos

OpenAIRE

Ribeiro, Alcides José Araújo; Ribeiro, Andréa Campos de Oliveira; Rodrigues, Márcia Marisia Maciel; Negreiros, Sandra de Barros Cobra; Nogueira, Ana Cláudia Cavalcante; Almeida, Osório Luís Rangel; Silva, José Carlos Quináglia e; Paula, Ana Patrícia de

2016-01-01

Resumo Contexto As cardiopatias podem causar alterações no formato das ondas da ultrassonografia vascular (UV) em vasos periféricos. Essas alterações, tipicamente bilaterais e sistêmicas, são pouco conhecidas e estudadas. Objetivo Avaliar as ondas periféricas da UV de pacientes idosos para identificar alterações decorrentes de cardiopatias. Métodos Foram estudados 183 pacientes idosos submetidos a UV periférica no ano de 2014. Resultados Foram avaliados 102 mulheres (55,7%) e 81 homens (4...

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 ...

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 ...

Atrichia congenita

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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.

Acompanhamento clínico de pacientes portadores de cardioversor-desfibrilador implantável

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Fonseca,Silvia Martelo Souza da; Belo,Luiz Gustavo; Carvalho,Hécio; Araújo,Nilson; Munhoz,Cláudio; Siqueira,Leonardo; Maciel,Washington; Andréa,Eduardo; Atié,Jacob

2007-01-01

OBJETIVO: Relatar o perfil de terapias apropriadas (TA) e inapropriadas (TI) do cardioversores-desfibriladores implantáveis (CDI) em portadores de cardiopatia isquêmica e não-isquêmica e as complicações precoces e tardias do procedimento. MÉTODOS: Foram analisados 155 pacientes (119 homens e 36 mulheres), idade média de 47 (21-88) anos, submetidos ao implante de CDI. Foram divididos em grupos I - pacientes pós-infarto agudo do miocárdio (IAM) (n = 80), grupo II - cardiopatia não-isquêmica e f...

Revesz syndrome

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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.

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.

Caso para diagnóstico Case for diagnosis

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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

Níveis séricos de NT pro-BNP: relação com função sistólica e diastólica nas miocardiopatias e pericardiopatias

OpenAIRE

Mady,Charles; Fernandes,Fábio; Arteaga,Edmundo; Ramires,Felix José Alvarez; Buck,Paula de Cássia; Salemi,Vera Maria Cury; Ianni,Barbara Maria; Nastari,Luciano; Dias,Ricardo Ribeiro

2008-01-01

FUNDAMENTO: O NT pro-BNP é marcador de disfunção sistólica e diastólica. OBJETIVO: Determinar os níveis de NT pro-BNP em pacientes com cardiopatia chagásica, hipertrófica, restritiva e afecções pericárdicas, e sua relação com medidas ecocardiográficas de disfunção sistólica e diastólica. MÉTODOS: Cento e quarenta e cinco pacientes foram divididos nos respectivos grupos: 1) cardiopatia chagásica (CCh) - 14 pacientes; 2) miocardiopatia hipertrófica (CMH) - 71 pacientes; 3) endomiocardiofibrose ...

Enterocolite Necrosante num Serviço de Cardiologia Pediátrica

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Afonso, S.; Ferreira, S.; Macedo, A. J.; Kaku, S.

2014-01-01

Introdução: Os autores procuram determinar factores de risco de enterocolite necrosante, em recém-nascidos de termo com cardiopatia congénita.Métodos: Revisão retrospectiva de recém-nascidos de termo, com cardiopatia congénita, internados num serviço de Cardiologia Pediátrica, nos anos de 1998 e 1999. Classificação das enterocolites de acordo com os critérios modificados de Bell.Resultados: Foram revistos 71 recém-nascidos. Dezassete doentes tiveram NEC (24%) sendo 11 de grau I (15%) e seis d...

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

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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

Clínica e terapêutica da doença de Chagas

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Francisco S. Laranja

1948-06-01

ventriculares, bloqueio de ramo direito, bloqueios A-V de todos os graus e altrações atípicas do complexo ventricular são os achados eletrocardiográficos mais importantes. O bloqueio de ramo direito é excepcionalmente comum neste tipo de cardiopatia e possúe grande valor diagnóstico em areas endêmicas. Os critérios para o diagnóstico diferencial com outros tipos de cardiopatia crônica são expostos. A evolução da cardiopatia crônica é variável, dependendo principalmente da atividade da infecção. A sobrevida é geralmente longa; entretanto, a maioria dos doentes morre antes dos 50 anos de idade. O prognóstico depende principalmente de gráu de aumento do coração e de redução da sua capacidade funcional, do tipo de arritmia presente e do potencial evolutivo da infecção crônica. A morte súbita é muito comum nesta cardiopatia; a maioria dos doentes, porém, morre em insuficiencia cardiaca. Não se dispõe ainda de medicamento eficaz para o tratamento etiológico da doença de Chagas. No tratamento da insuficiência cardíaca da cardiopatia crônica da doença de Chagas obtém-se frequentemente melhores resultados com a estrofantina ou a ouabaina do que com a digital.1 - Based on the experience acquired in the last five years in Bambui, Minas Gerais, where more than six hundred cases of Chagas' disease have been studied, the authors have made a review of the clinical manifestations of this disease. Data on the incidence of schizotrypanosis are reported and the social importance of the disease, which is now being gradually, recognized, is stressed. 2 - The following classification of the clinical forms of the disease is suggested: a Acute form; b Chronic forms: 1 - Chronic indeterminate form 9potencial heart disease. 2- Chronic cardiac form (chronic Chagas' heart disease. No nervous manifestations of the kind of those described as the chronic nervous form of schizotrypanosis have been observed in the cases studied in Bambuí. 3 - Clinical and experimental

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.

Parâmetros ecocardiográficos em modo unidimensional de cães da raça Poodle miniatura, clinicamente sadios Echocardiographic parameters in unidimensional mode from clinically normal miniature Poodle dogs

OpenAIRE

Ronaldo Jun Yamato; Maria Helena Matiko Akao Larsson; Regina Mieko Sakata Mirandola; Guilherme Gonçalves Pereira; Fernanda Lie Yamaki; Ana Carolina Brandão de Campos Fonseca Pinto; Elina Célia Nakandakari

2006-01-01

No Brasil, a população canina da raça Poodle, principalmente a variação miniatura, cresce em progressão geométrica, sendo esta raça freqüentemente acometida por cardiopatias congênitas e adquiridas. O escopo deste estudo foi padronizar e avaliar os parâmetros ecocardiográficos em modo unidimensional (M) de cães da raça Poodle miniatura, devido ao aumento populacional da mesma, a variação existente destes parâmetros entre as raças caninas e as diversas cardiopatias às quais os Poodles são pred...

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

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

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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 < 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

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

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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.

Perfil clínico da resposta inflamatória sistêmica após cirurgia cardíaca pediátrica com circulação extracorpórea Perfil clínico de la respuesta inflamatoria sistémica tras cirugía cardiaca pediátrica con circulación extracorpórea Clinical profile of systemic inflammatory response after pediatric cardiac surgery with cardiopulmonary bypass

OpenAIRE

Leonardo Cavadas da Costa Soares; Denise Ribas; Regine Spring; Jean Marcelo Ferreira da Silva; Nelson Itiro Miyague

2010-01-01

FUNDAMENTO: O pós-operatório de correção de cardiopatias congênitas frequentemente é acompanhado por resposta inflamatória sistêmica. OBJETIVO: Avaliar a frequência e as manifestações clínicas da síndrome de resposta inflamatória sistêmica após circulação extracorpórea (SRIS-CEC) em crianças submetidas à cirurgia cardíaca. MÉTODOS: Coorte histórico incluindo pacientes com até 3 anos de idade, submetidos à correção cirúrgica eletiva de cardiopatias congênitas com utilização de circulação extra...

Perfil clínico da resposta inflamatória sistêmica após cirurgia cardíaca pediátrica com circulação extracorpórea

OpenAIRE

Soares, Leonardo Cavadas da Costa; Ribas, Denise; Spring, Regine; Silva, Jean Marcelo Ferreira da; Miyague, Nelson Itiro

2010-01-01

FUNDAMENTO: O pós-operatório de correção de cardiopatias congênitas frequentemente é acompanhado por resposta inflamatória sistêmica. OBJETIVO: Avaliar a frequência e as manifestações clínicas da síndrome de resposta inflamatória sistêmica após circulação extracorpórea (SRIS-CEC) em crianças submetidas à cirurgia cardíaca. MÉTODOS: Coorte histórico incluindo pacientes com até 3 anos de idade, submetidos à correção cirúrgica eletiva de cardiopatias congênitas com utilização de circulação extra...

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

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

Apresentações clínicas não usuais de pacientes portadores de síndrome de Patau e Edwards: um desafio diagnóstico? Unusual clinical presentations of patients with Patau and Edwards syndromes: a diagnostic challenge?

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Paulo Ricardo G. Zen

2008-09-01

Full Text Available OBJETIVO: Relatar dois pacientes, um acometido por trissomia do cromossomo 13 em mosaico e outro por trissomia do cromossomo 18, ambos com apresentações clínicas não usuais. DESCRIÇÃO DO CASO: Paciente do sexo feminino de dois meses de idade, que apresentava deficiência de crescimento, dismorfias menores de face e de membros, paresia facial unilateral, cardiopatia congênita, hipotonia e evolução com o surgimento de manchas hipocrômicas e atraso do desenvolvimento neuropsicomotor. O segundo caso é de um paciente do sexo masculino, com 19 dias de vida, que também mostrava deficiência de crescimento, anomalias faciais menores, defeito radial, cardiopatia congênita e hipertonia. Os cariótipos por bandas GTG confirmaram o diagnóstico, respectivamente, de síndromes de Patau e de Edwards. COMENTÁRIOS: Os presentes relatos têm por objetivo alertar os pediatras sobre manifestações não usuais nas trissomias dos cromossomos 13 e 18, as quais podem dificultar a suspeita diagnóstica.OBJECTIVE: Report two patients, one with trisomy 13 mosaicism and the other with trisomy 18, both with unusual clinical presentations. CASE DESCRIPTION: The first case was a female patient with two months of age who presented growth deficiency, minor dysmorphia of face and limbs, unilateral facial paresis, congenital heart defect and hypotonia, who developed hypochromic spots and neuropsychomotor delay. The second case was a male patient with 19 days of age who also had growth deficiency, minor facial anomalies, radial defect, congenital heart defect and hypertonia. GTG-Banding karyotypes confirmed the diagnosis of Patau and Edwards syndromes respectively. COMMENTS: The aim of these reports is to call attention to the fact that Patau and Edwards syndromes may present an unusual pattern of abnormalities, making the diagnostic hypothesis difficult.

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

Development and simulation of a passive upper extremity orthosis for amyoplasia

DEFF Research Database (Denmark)

Jensen, Erik Føge; Raunsbæk, Joakim; Lund, Jan Nørgaard

2018-01-01

Introduction People who are born with arthrogryposis multiplex congenita are typically not able to perform activities of daily living (ADL) due to decreased muscle mass, joint contractures and unnatural upper extremity positioning. They are, therefore, potential users of an assistive device capable....... Results For a given configuration using a mono- and a bi-articular spring, the simulations showed that spring stiffnesses of 400?Nm?1 and of 1029?Nm?1, respectively, were able to lower the maximal muscle activity estimated by the musculoskeletal model to a level in which the 10 postures can be realized....... Conclusion By augmenting residual muscle strength with a partially gravity-balanced passive orthosis, ADLs may be achievable for people with arthrogryposis multiplex congenita....

Investigation of the Genetics of Hematologic Diseases

Science.gov (United States)

2017-10-17

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

Rastreamento Pré-natal de Anormalidades Cardíacas: Papel da Ultra–sonografia Obstétrica de Rotina renatal Screening of Cardiac Abnormalities: The Role of Routine Obstetrical Ultrasound

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Tzvi Bacaltchuk

2001-10-01

estudo ecográfico, ao passo que apenas 3,4% dos pacientes sem suspeita pré-natal apresentaram alterações do ritmo (p=0,009. Constituíram fatores comparativos significantes entre o grupo com suspeita pré-natal e o sem suspeita a paridade (p=0,029, o parto cesáreo (p=0,006, a internação em unidade de tratamento intensivo (p=0,046 e a escolaridade paterna (p=0,014. À análise multivariada, apenas a presença de alteração do ritmo cardíaco durante a ultra-sonografia obstétrica mostrou-se como variável independente associada à suspeita pré-natal de anormalidade cardíaca. Conclusões: a ultra-sonografia obstétrica de rotina ainda tem sido subutilizada no rastreamento pré-natal de cardiopatias congênitas. O treinamento dirigido dos ultra-sonografistas e a conscientização do meio obstétrico e da própria população podem ser os instrumentos para aumentar a eficácia deste método.Purpose: to evaluate the role of routine obstetrical ultrasound scan in suspecting the presence of fetal congenital heart diseases and severe arrhythmias, as well as the factors involved in its accuracy. Methods: the sample was made up of 77 neonates and infants hospitalized at the Institute of Cardiology of Rio Grande do Sul from May to October of 2000, with confirmed postnatal diagnosis of structural heart disease or severe arrhythmia, whose mothers had been submitted to at least one obstetrical ultrasound scan after 18 weeks of gestation. After informed consent, a customized standard questionnaire was used. Categorical variables were compared using chi² test or Fisher's exact test and a logistic regression model was used to determine independent variables possibly involved in the prenatal suspicion of cardiac abnormalities. Results: in 19 patients (24.6%, obstetrical ultrasound was able to rise prenatal suspicion of structural or rhythm abnormalities. Considering only congenital heart diseases, this prevalence was 19.2% (14/73. In 73.7% of these cases, the cardiac disorder

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

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

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

Science.gov (United States)

2017-07-24

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

What Is Alopecia Areata?

Science.gov (United States)

... Bullosa Lichen Sclerosus Pachyonychia Congenita Pemphigus Psoriasis Raynaud’s Phenomenon Rosacea Vitiligo All Diseases and Conditions Kids Pages ... a role. This does not mean that your child will inherit the disease. In fact, this probably ...

Your Guide to Anemia

Science.gov (United States)

... Inherited Causes l Folate or iron deficiency l Fanconi anemia from poor diet l Shwachman-Diamond l Demand ... cells, leading to aplastic anemia. These conditions include Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, Diamond- Blackfan anemia, ...

Pemphigus

Science.gov (United States)

... Bullosa Lichen Sclerosus Pachyonychia Congenita Pemphigus Psoriasis Raynaud’s Phenomenon Rosacea Vitiligo All Diseases and Conditions Kids Pages ... not appear to be passed from parent to child. But some people’s genes put them more at ...

Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.

Science.gov (United States)

O'Riordan, Aisling M; McGrath, Niamh; Sharif, Farhana; Murphy, Nuala P; Franklin, Orla; Lynch, Sally Ann; O'Grady, Michael J

2017-01-01

Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome. Phenotypic features including neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been reported previously. Similarly, laboratory features of insulin-like growth factor 1 (IGF-1) resistance are described, including markedly elevated IGF-1 of up to +4.7 SDS. In one patient, the elevated IGF-1 declined over time and this coincided with a period of spontaneous growth acceleration. Deletions of 15q26 are a potential risk factor for aortic root dilatation, neonatal lymphedema and aplasia cutis in addition to causing growth restriction. What is Known: • Terminal deletions of chromosome 15q26 are associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. What is New: • Neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been previously described in 15q26 terminal deletions and may represent novel features. • IGF-1 levels may be increased up to 4.7 SDS.

BMT Abatacept for Non-Malignant Diseases

Science.gov (United States)

2018-05-16

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

Lethal neonatal short-limbed dwarfism

International Nuclear Information System (INIS)

Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee

1986-01-01

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

Lethal neonatal short-limbed dwarfism

Energy Technology Data Exchange (ETDEWEB)

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

1986-02-15

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

Transposição corrigida das grandes artérias: apresentação clínica tardia, na quinta década de vida Corrected transposition of the great arteries: late clinical presentation, in the fifth decade of life

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Roger Pereira de Oliveira

2008-10-01

Full Text Available A transposição corrigida das grandes artérias, cardiopatia congênita rara, está relacionada a maior incidência de complicações cardiológicas. Reportamos um caso no qual a apresentação clínica da doença ocorreu apenas na quinta década de vida, com insuficiência tricúspide, ocasião em que a paciente foi submetida a troca valvar.The corrected transposition of the great arteries, rare congenital cardiopathy, is related to the largest incidence of cardiological complications. We report a case in which the clinical presentation of the disease occurred in the fifth decade of life, with tricuspid insufficiency, occasion that the patient was submitted to valvar replacement.

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Science.gov (United States)

Stuart, Bridget D; Choi, Jungmin; Zaidi, Samir; Xing, Chao; Holohan, Brody; Chen, Rui; Choi, Mihwa; Dharwadkar, Pooja; Torres, Fernando; Girod, Carlos E; Weissler, Jonathan; Fitzgerald, John; Kershaw, Corey; Klesney-Tait, Julia; Mageto, Yolanda; Shay, Jerry W; Ji, Weizhen; Bilguvar, Kaya; Mane, Shrikant; Lifton, Richard P; Garcia, Christine Kim

2015-05-01

Idiopathic pulmonary fibrosis (IPF) is an age-related disease featuring progressive lung scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of familial kindreds with pulmonary fibrosis. Gene burden analysis comparing 78 European cases and 2,816 controls implicated PARN, an exoribonuclease with no previous connection to telomere biology or disease, with five new heterozygous damaging mutations in unrelated cases and none in controls (P = 1.3 × 10(-8)); mutations were shared by all affected relatives (odds in favor of linkage = 4,096:1). RTEL1, an established locus for dyskeratosis congenita, harbored significantly more new damaging and missense variants at conserved residues in cases than in controls (P = 1.6 × 10(-6)). PARN and RTEL1 mutation carriers had shortened leukocyte telomere lengths, and we observed epigenetic inheritance of short telomeres in family members. Together, these genes explain ~7% of familial pulmonary fibrosis and strengthen the link between lung fibrosis and telomere dysfunction.

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): ...

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.

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 ...

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)

Intratemporal facial nerve neuromas and their mimics: CT and MR findings

Energy Technology Data Exchange (ETDEWEB)

Han, Moon Hee; Chang, Kee Hyun; Lee, Kyung Hwan; Cha, Sang Hoon; Kim, Chong Sun [Seoul National University College of Medicine, Seoul (Korea, Republic of); Kim, Sang Joon [Chungang Gil General Hospital, Seoul (Korea, Republic of)

1992-05-15

CT and MR findings of nine cases with intra temporal facial nerve neuromas were described and compared with CT findings of 3 cases with facial nerve palsy and facial nerve canal erosion which may mimic facial nerve neuroma. The tympanic segment of the facial nerve was involved in 8 cases, mastoid segment in 7 cases and labyrinthine segment in 5 cases. The lesions were easily diagnosed with high resolution CT with bone algorithms by showing the expansion of bony structures along the course of the facial nerves. In 4 cases with large vertical segment tumors, extensive destruction of mastoid air cells and external auditory canals posed difficulty in making a diagnosis. Two out of 5 cases with labyrinthine segment involvement were presented as middle cranial fossa masses. MRI with enhancement was performed in 4 cases and was useful in characterizing the lesion as a tumor with its superior sensitivity to enhancement. Three cases of facial neuroma-mimicking lesion including post-inflammatory peri neural thickening, peri neural extension from parotid adenoid cystic carcinoma, and congenita; cholesteatoma showed irregular erosion or mild expansion of the facial nerve canal which may be helpful for differential diagnosis from neuromas.

Estudo clínico e de fatores de risco associados às alterações cardiovasculares em cães1

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Olívia M.M. Borges

Full Text Available RESUMO: O conhecimento clínico das alterações cardíacas em cães é de fundamental importância na formulação de diagnósticos diferenciais e instituição terapêutica na rotina da Clínica Médica de Pequenos Animais. Objetivaram-se com este estudo descrever os aspectos clínicos, epidemiológicos e radiográficos inerentes as alterações cardiovasculares de cães cardiopatas atendidos no Hospital Veterinário de Patos-PB (HV. Para isso foram avaliados os prontuários clínicos de todos os animais atendidos no período de Janeiro de 2007 a Dezembro de 2012, selecionando-se 131 cães (GCARD que apresentavam histórico, alterações clínicas e radiográficas compatíveis com cardiopatia. Para fins comparativos, um grupo controle sem cardiopatia de igual número foi criado (GCON. Para análise estatística foram utilizados o teste de qui-quadrado ou teste exato de Fisher e regressão logística múltipla, com nível de significância de 5%, utilizando-se o programa SPSS 20.0 for Windows. Edema pulmonar e alterações morfológicas cardíacas foram os achados radiográficos mais frequentes. Não houve diferença quanto ao sexo e prevaleceram os animais mais velhos e da raça poodle. Tosse, cansaço e tristeza foram as queixas mais comuns. Sopro, tártaro e alterações oculares foram os sinais clínicos de maior ocorrência. As variáveis relacionadas ao engasgo, tontura/fraqueza, creptação pulmonar, ascite, obesidade, tumor e tártaro foram identificadas como associadas às cardiopatias. O modelo final apresentou ajuste satisfatório (teste de Hosmer e Lemeshow: χ2=0,221; P=0,994; R2 = 0,46. Mesmo que não seja possível determinar o diagnóstico etiológico das cardiopatias, faz-se necessário que um amplo conhecimento clínico e epidemiológico destes seja cada vez mais consolidado, de modo que as consequências fisiopatológicas dos distúrbios cardíacos sejam rapidamente identificados, trazendo qualidade de vida a todos os

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

Science.gov (United States)

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

Dicty_cDB: VFD746 [Dicty_cDB

Lifescience Database Archive (English)

Full Text Available 0558 LLC cDN... 572 e-162 BC099966_1( BC099966 |pid:none) Mus musculus dyskeratosis congenit... 572 e-161 FJ...236702_1( FJ236702 |pid:none) Sus scrofa dyskeratosis congenita ... 571 e-161 BC123284_1( BC123284 |pid:none

p53 downregulates the Fanconi anaemia DNA repair pathway.

Science.gov (United States)

Jaber, Sara; Toufektchan, Eléonore; Lejour, Vincent; Bardot, Boris; Toledo, Franck

2016-04-01

Germline mutations affecting telomere maintenance or DNA repair may, respectively, cause dyskeratosis congenita or Fanconi anaemia, two clinically related bone marrow failure syndromes. Mice expressing p53(Δ31), a mutant p53 lacking the C terminus, model dyskeratosis congenita. Accordingly, the increased p53 activity in p53(Δ31/Δ31) fibroblasts correlated with a decreased expression of 4 genes implicated in telomere syndromes. Here we show that these cells exhibit decreased mRNA levels for additional genes contributing to telomere metabolism, but also, surprisingly, for 12 genes mutated in Fanconi anaemia. Furthermore, p53(Δ31/Δ31) fibroblasts exhibit a reduced capacity to repair DNA interstrand crosslinks, a typical feature of Fanconi anaemia cells. Importantly, the p53-dependent downregulation of Fanc genes is largely conserved in human cells. Defective DNA repair is known to activate p53, but our results indicate that, conversely, an increased p53 activity may attenuate the Fanconi anaemia DNA repair pathway, defining a positive regulatory feedback loop.

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

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

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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

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

African Journals Online (AJOL)

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

Disease: H00921 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available Revesz syndrome has many of the features of dyskeratosis congenita. Exudative retinopathy is a diagnostic c...ive tissue disease; Nervous system disease TINF2 [HSA:26277] [KO:K11112] ... Dyskeratosis...INF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis cong

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

Aplasia Cutis Congénita: Presentación de un caso

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Rosa María Alonso Uría

1998-06-01

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

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) ...

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Science.gov (United States)

Barat-Houari, Mouna; Dumont, Bruno; Fabre, Aurélie; Them, Frédéric Tm; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Séverine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, François; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quélin, Chloé; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Geneviève; Cormier-Daire, Valérie; Le Merrer, Martine; Geneviève, David; Touitou, Isabelle

2016-07-01

Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype-phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach.

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

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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.

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

Disease: H00793 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available k R, Kirwan M, Dokal I ... TITLE ... Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis...B1 [HSA:79650] ... Dyskeratosis congenita (H00507) and Rothmund-Thomson syndrome (H00296) display clinical ...tropenia. It has been reported mutations in USB1 cause this condition. Skin and connective tissue disease US

Estenose aórtica supravalvar em adulto com anomalia de vasos da base e insuficiência aórtica

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Acrisio Sales Valente

2013-12-01

Full Text Available A estenose aórtica supravalvar é uma rara cardiopatia congênita, bastante incomum em adultos. Apresentamos um caso de estenose aórtica supravalvar em adulto com anomalia de vasos do arco aórtico, já com presença de insuficiência aórtica importante, tratado com êxito por meio de plastia da aorta ascendente e troca valvar aórtica.

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

Mutant Mice Lacking the p53 C-Terminal Domain Model Telomere Syndromes

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Iva Simeonova

2013-06-01

Full Text Available Mutations in p53, although frequent in human cancers, have not been implicated in telomere-related syndromes. Here, we show that homozygous mutant mice expressing p53Δ31, a p53 lacking the C-terminal domain, exhibit increased p53 activity and suffer from aplastic anemia and pulmonary fibrosis, hallmarks of syndromes caused by short telomeres. Indeed, p53Δ31/Δ31 mice had short telomeres and other phenotypic traits associated with the telomere disease dyskeratosis congenita and its severe variant the Hoyeraal-Hreidarsson syndrome. Heterozygous p53+/Δ31 mice were only mildly affected, but decreased levels of Mdm4, a negative regulator of p53, led to a dramatic aggravation of their symptoms. Importantly, several genes involved in telomere metabolism were downregulated in p53Δ31/Δ31 cells, including Dyskerin, Rtel1, and Tinf2, which are mutated in dyskeratosis congenita, and Terf1, which is implicated in aplastic anemia. Together, these data reveal that a truncating mutation can activate p53 and that p53 plays a major role in the regulation of telomere metabolism.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

OpenAIRE

Maluenda, J?r?me; Manso, Constance; Quevarec, Loic; Vivanti, Alexandre; Marguet, Florent; Gonzales, Marie; Guimiot, Fabien; Petit, Florence; Toutain, Annick; Whalen, Sandra; Grigorescu, Romulus; Coeslier, Anne?Dieux; Gut, Marta; Gut, Ivo; Laquerri?re, Annie

2016-01-01

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule involved in the formation of the nodes of Ranvier. Transmission electron microscopy...

Fístula da artéria coronária: relato de três casos operados e revisão da literatura

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Antônio Amauri GROPPO

2002-09-01

Full Text Available Fístulas das artérias coronárias têm incidência baixa entre as cardiopatias congênitas, muitas vezes assintomáticas, devendo ser suspeitadas quando há presença de sopro contínuo no precórdio. Podem apresentar sintomas de precordialgia ou insuficiência cardíaca e devem ser estudadas adequadamente para tratamento seguro, tanto cirúrgico como por cateterismo ou acompanhamento clínico. No presente trabalho são relatados três casos tratados por operação com resultado satisfatório e a literatura é revisada.Coronary arteries fistulas have low incidence on the congenital heart defects, many times they are assymptomatic, and have to be suspected when continuous cardiac murmur is present. The symptoms can be precordial pain or cardiac failure and they must be studied correctly to a save surgical management or clinic treatment. In this paper are related three cases surgically treated with good results and literature review.

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

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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

Avaliação da influência de alterações cardíacas na ultrassonografia vascular periférica de idosos

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Alcides José Araújo Ribeiro

Full Text Available Resumo Contexto As cardiopatias podem causar alterações no formato das ondas da ultrassonografia vascular (UV em vasos periféricos. Essas alterações, tipicamente bilaterais e sistêmicas, são pouco conhecidas e estudadas. Objetivo Avaliar as ondas periféricas da UV de pacientes idosos para identificar alterações decorrentes de cardiopatias. Métodos Foram estudados 183 pacientes idosos submetidos a UV periférica no ano de 2014. Resultados Foram avaliados 102 mulheres (55,7% e 81 homens (44,3% com idade entre 60 e 91 anos (média de 70,4±7,2 anos. Encontraram-se alterações pela UV em 84 pacientes (45,9%. Foram identificadas 138 alterações de oito dos 13 tipos descritos na literatura: arritmia, onda bisferiens de pico sistólico, baixa velocidade de pico sistólico, pulsatilidade em veias femorais, bradicardia, taquicardia, onda de pulso parvus tardus e onda de pulso alternans. Houve baixa concordância entre a presença e a não presença de alterações na UV e na avaliação cardiológica. Na análise específica das alterações, os exames tiveram uma concordância variável, que foi boa para o achado de taquicardia, moderada para arritmia e baixa para bradicardia. Não houve concordância entre a UV e os exames cardiológicos para as demais alterações. Conclusões É possível identificar determinadas alterações cardíacas em idosos por meio da análise do formato das ondas periféricas da UV. É importante reconhecer e relatar a presença dessas alterações, pela possibilidade de alertar para um diagnóstico ainda não identificado nesses pacientes. Entretanto, mais estudos são necessários para que seja definida a importância das alterações no formato das ondas Doppler periféricas no reconhecimento de cardiopatias.

The Right Hemisphere Planum Temporale Supports Enhanced Visual Motion Detection Ability in Deaf People: Evidence from Cortical Thickness

OpenAIRE

Shiell, Martha M.; Champoux, Fran?ois; Zatorre, Robert J.

2016-01-01

After sensory loss, the deprived cortex can reorganize to process information from the remaining modalities, a phenomenon known as cross-modal reorganization. In blind people this cross-modal processing supports compensatory behavioural enhancements in the nondeprived modalities. Deaf people also show some compensatory visual enhancements, but a direct relationship between these abilities and cross-modally reorganized auditory cortex has only been established in an animal model, the congenita...

Rare causes of scoliosis and spine deformity: experience and particular features

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Pliarchopoulou Fani M

2007-10-01

Full Text Available Abstract Background Spine deformity can be idiopathic (more than 80% of cases, neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities. Methods A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002. The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case. Results In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia, muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness. Nine of these patients were surgically treated. Surgery was avoided in 3 patients. Conclusion This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.

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

Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

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Sylvio Saraiva

1960-09-01

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

Inactivation of the Tumor Suppressor Genes Causing the Hereditary Syndromes Predisposing to Head and Neck Cancer via Promoter Hypermethylation in Sporadic Head and Neck Cancers

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Smith, Ian M.; Mithani, Suhail K.; Mydlarz, Wojciech K.; Chang, Steven S.; Califano, Joseph A.

2010-01-01

Fanconi anemia (FA) and dyskeratosis congenita (DC) are rare inherited syndromes that cause head and neck squamous cell cancer (HNSCC). Prior studies of inherited forms of cancer have been extremely important in elucidating tumor suppressor genes inactivated in sporadic tumors. Here, we studied whether sporadic tumors have epigenetic silencing of the genes causing the inherited forms of HNSCC. Using bisulfite sequencing, we investigated the incidence of promoter hypermethylation of the 17 Fan...

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA

OpenAIRE

Schertzer , Michael; Jouravleva , Karina; Perderiset , Mylène; Dingli , Florent; Loew , Damarys; Le Guen , Tangui; Bardoni , Barbara; De Villartay , Jean-Pierre; Revy , Patrick; Londono-Vallejo , Arturo

2015-01-01

International audience; Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and im-munodeficiency and has been associated with telom-ere dysfunction. Recently, mutations in Regulator of Telomere ELongation helicase 1 (RTEL1), a helicase first identified in Mus musculus as being responsible for the maintenance of long telomeres, have been identified in several HHS patients. Here we show that RTEL1 is require...

Homocystinuria due to cystathionine beta synthase deficiency

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Rao T

2008-01-01

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

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

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.

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Pakkasjärvi, Niklas; Ritvanen, Annukka; Herva, Riitta; Peltonen, Leena; Kestilä, Marjo; Ignatius, Jaakko

2006-09-01

Arthrogryposis multiplex congenita is a heterogeneous group of disorders characterized by multiple contractures with an estimated frequency of 1 in 3,000 births. With improving diagnostic methods, increasing numbers of fetuses with arthrogryposis are found. The pathogenetic mechanisms are relatively well known but the epidemiology and genetics of the prenatally lethal forms of arthrogryposis are less well known. In this study we collected all cases of a multiple contractures diagnosed in Finland during 1987-2002 including live born infants, stillbirths, and terminated pregnancies. Ninety-two cases of 214 suffered intrauterine demise (68 selective pregnancy terminations and 24 stillbirths) and 58 died in infancy. In 141 out of these cases the diagnosis could be included within lethal arthrogryposes, with a prevalence of 1 in 6,985 (1.43/10,000) births. Of these, 59 had spinal cord pathology at autopsy and thus were of neurogenic origin. Thirty-nine cases had lethal congenital contracture syndrome (LCCS) clinically characterized by total immobility of the fetus at all ultrasound examinations (12 weeks or later), multiple joint contractures in both upper and lower limbs, hydrops, and fetal death before the 32nd week of pregnancy. LCCS is noted as a unique Finnish disorder with a prevalence of 1 in 25,250 (0.40/10,000) births and is a major cause of lethal arthrogryposis in Finland.

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

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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

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): ...

Walking ability in patients with arthrogryposis multiplex congenita

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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.

Muscle channelopathies and electrophysiological approach

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Cherian Ajith

2008-01-01

Full Text Available Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutation in genes coding for skeletal muscle voltage ionic channels. Familial periodic paralysis and nondystrophic myotonias are disorders of skeletal muscle excitability caused by mutations in genes coding for voltage-gated ion channels. These diseases are characterized by episodic failure of motor activity due to muscle weakness (paralysis or stiffness (myotonia. Clinical studies have identified two forms of periodic paralyses: hypokalemic periodic paralysis (hypoKPP and hyperkalemic periodic paralysis (hyperKPP, based on changes in serum potassium levels during the attacks, and three distinct forms of myotonias: paramyotonia congenita (PC, potassium-aggravated myotonia (PAM, and myotonia congenita (MC. PC and PAM have been linked to missense mutations in the SCN4A gene, which encodes α subunit of the voltage-gated sodium channel, whereas MC is caused by mutations in the chloride channel gene (CLCN1. Exercise is known to trigger, aggravate, or relieve symptoms. Therefore, exercise can be used as a functional test in electromyography to improve the diagnosis of these muscle disorders. Abnormal changes in the compound muscle action potential can be disclosed using different exercise tests. Five electromyographic (EMG patterns (I-V that may be used in clinical practice as guides for molecular diagnosis are discussed.

Beginning at the ends: telomeres and human disease [version 1; referees: 4 approved

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Sharon A. Savage

2018-05-01

Full Text Available Studies of rare and common illnesses have led to remarkable progress in the understanding of the role of telomeres (nucleoprotein complexes at chromosome ends essential for chromosomal integrity in human disease. Telomere biology disorders encompass a growing spectrum of conditions caused by rare pathogenic germline variants in genes encoding essential aspects of telomere function. Dyskeratosis congenita, a disorder at the severe end of this spectrum, typically presents in childhood with the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia, accompanied by a very high risk of bone marrow failure, cancer, pulmonary fibrosis, and other medical problems. In contrast, the less severe end of the telomere biology disorder spectrum consists of middle-age or older adults with just one feature typically seen in dyskeratosis congenita, such as pulmonary fibrosis or bone marrow failure. In the common disease realm, large-scale molecular epidemiology studies have discovered novel associations between illnesses, such as cancer, heart disease, and mental health, and both telomere length and common genetic variants in telomere biology genes. This review highlights recent findings of telomere biology in human disease from both the rare and common disease perspectives. Multi-disciplinary collaborations between clinicians, basic scientists, and epidemiologist are essential as we seek to incorporate new telomere biology discoveries to improve health outcomes.

Self-monitoring training and diabetes type 2 prevention behavior

OpenAIRE

Casseb, Mariene da Silva; Ferreira, Eleonora Arnaud Pereira

2012-01-01

Este estudo investigou os efeitos de um treino em automonitoração na instalação e ampliação de repertórios comportamentais considerados como preventivos para a ocorrência de diabetes. Descreve-se um caso clínico realizado com uma mulher adulta com os seguintes fatores de risco: alimentação inadequada, sobrepeso, sedentarismo e histórico familiar de cardiopatia e diabetes. Foram realizadas visitas domiciliares para investigação de características sociodemográficas, levantamento de linhas de ba...

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.

Veia cava superior esquerda anômala com ausência de veia cava superior direita: achados de imagem Persistent left superior vena cava with absent right superior vena cava: image findings

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Cyrillo Rodrigues de Araújo Júnior

2003-10-01

Full Text Available A persistência da veia cava superior esquerda com ausência da veia cava superior direita é uma anomalia rara, com menos de 150 casos descritos na literatura. A não-obliteração e regressão da veia cardinal anterior esquerda durante o desenvolvimento embriológico promove uma variação sistêmica de retorno venoso ao coração, com persistência da veia cava superior esquerda. Sua incidência varia de 0,3% em pacientes sem alterações cardíacas congênitas concomitantes a 4,3% naqueles com cardiopatias. Na maioria das vezes coexiste a veia cava superior direita, porém se houver regressão e degeneração da veia cardinal anterior direita, implicará a sua ausência e a drenagem venosa para o coração será feita pela veia cava superior esquerda ao átrio direito, através do seio coronariano. Mostramos um caso de um paciente submetido a radiografia de tórax e tomografia computadorizada para avaliação de doença pulmonar obstrutiva crônica, tendo como achado a persistência da veia cava superior esquerda com ausência da direita, sem qualquer cardiopatia associada e com a drenagem cardíaca sendo feita, através do seio coronariano, para o átrio direito.Persistent left superior vena cava with absent right superior vena cava is a rare anomaly, with less than 150 cases reported in the literature. Congenitally persistent left superior vena cava is the most common variant of systemic venous return to the heart, resulting embryologically from failure of the left anterior cardinal vein to become obliterated. Its incidence varies from 0.3% in patients with otherwise normal heart to 4.3% in patients with congenital heart disease. In the majority of the patients, a right superior vena cava is present as well, but rarely the right anterior cardinal vein degenerates resulting in the absence of the normal right superior vena cava. The blood from the right side is carried by the persistent left superior vena cava to the right atrium through the

Spectrum of Features in Pterygium Syndrome

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Sanjay Y. Parashar

2006-04-01

Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

Antimyotonic therapy with tocainide under ECG control in the myotonic dystrophy of Curschmann-Steinert.

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Mielke, U; Haass, A; Sen, S; Schmidt, W

1985-01-01

Ten patients suffering from advanced myotonic dystrophy with severe myotonic symptoms were treated with 800-1200 mg/day of the anti-arrhythmic drug tocainide (Xylotocan). All patients reported a marked subjective improvement of myotonia, which was confirmed by objective tests. Except for a slight QT-prolongation in one patient, the ECG was not significantly altered by the treatment. Twenty-four-hour ECG after treatment disclosed that pre-existing ventricular arrhythmia disappeared in three cases. The occurrence of complex ventricular arrhythmia in two patients under treatment was not necessarily due to specific effects of the drug but might be explained by the high spontaneous variability of rhythm disorders. In these patients suffering from myotonic dystrophy with typical cardiomyopathy no deleterious effects of the drug were observed, especially no cardiac arrhythmias which would have necessitated interruption of treatment. Therefore, the authors recommend symptomatic therapy with tocainide for myotonia and paramyotonia congenita, as well as in myotonic dystrophy patients suffering from marked myotonic stiffness. ECG and 24-h ECG should be carefully recorded as necessary in any treatment with anti-arrhythmic drugs.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Science.gov (United States)

Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S

2010-08-01

Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. Copyright 2009 Elsevier B.V. All rights reserved.

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Science.gov (United States)

Kato, Fumiko; Hamajima, Takashi; Hasegawa, Tomonobu; Amano, Naoko; Horikawa, Reiko; Nishimura, Gen; Nakashima, Shinichi; Fuke, Tomoko; Sano, Shinichirou; Fukami, Maki; Ogata, Tsutomu

2014-05-01

Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients. We studied a 46,XX patient aged 8·5 years (case 1) and two 46,XY patients aged 16·5 and 15·0 years (cases 2 and 3). Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. Furthermore, lack of CDKN1C mutation in case 3 implies genetic heterogeneity in IMAGe syndrome. © 2013 John Wiley & Sons Ltd.

Síndrome de Noonan. Reavaliação clínica e estudo molecular de 16 casos

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B. Sousa, Sérgio; Venâncio, Margarida; Gabriel, Helena; Ramos, Lina; Santos, Isabel; Beck, Sebastian; Jorge, Marta; Simão, Luisa; Tavares, Purificação; M. Saraiva, Jorge

2014-01-01

ResumoO Síndrome de Noonan (SN, MIM#163950) é uma patologia do desenvolvimento caracterizada por dismorfia facial típica, baixa estatura e cardiopatia congénita. Tem uma frequência estimada de 1:1000-2500 nascimentos e transmissão autossómica dominante, com neomutações frequentes. Em 30-60% dos casos é possível identificar uma mutação no gene PTPN11.Foram reavaliados clínica, laboratorial e cognitivamente 16 indivíduos com a hipótese diagnóstica de SN, incluindo o estudo molecular do gene PTP...

Mudança de conduta cirúrgica motivada pela ecocardiografia transesofágica intraoperatória Cambio de conducta quirúrgica motivada por la ecocardiografía transesofágica intraoperatoria Changes in surgical conduct due to the results of intraoperative transesophageal echocardiography

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Alexander Alves da Silva; Enis Donizete Silva; Arthur Vitor Rosenti Segurado; Pedro Paulo Kimachi; Claudia Marques Simões

2010-01-01

JUSTIFICATIVA E OBJETIVOS: A utilização da ecocardiografia transesofágica (ETE) é de valor indiscutível em procedimentos cirúrgicos como valvoplastias, cirurgias da aorta torácica e correções de cardiopatias congênitas. Entre as grandes vantagens da utilização da ETE destacam-se a pouca invasividade do método e a capacidade de agregar informações que podem alterar o curso da cirurgia. O objetivo deste relato foi apresentar um caso onde a condução cirúrgica da paciente foi alterada em decorrên...

Mudança de conduta cirúrgica motivada pela ecocardiografia transesofágica intraoperatória

OpenAIRE

Silva, Alexander Alves da; Silva, Enis Donizete; Segurado, Arthur Vitor Rosenti; Kimachi, Pedro Paulo; Simões, Claudia Marques

2010-01-01

JUSTIFICATIVA E OBJETIVOS: A utilização da ecocardiografia transesofágica (ETE) é de valor indiscutível em procedimentos cirúrgicos como valvoplastias, cirurgias da aorta torácica e correções de cardiopatias congênitas. Entre as grandes vantagens da utilização da ETE destacam-se a pouca invasividade do método e a capacidade de agregar informações que podem alterar o curso da cirurgia. O objetivo deste relato foi apresentar um caso onde a condução cirúrgica da paciente foi alterada em decorrên...

Production and expression of inflammation and angiogenic parameters triggered by different genetic population of Trypanosoma cruzi.

OpenAIRE

Shrestha, Deena

2014-01-01

Programa de Pós-Graduação em Ciências Biológicas. Núcleo de Pesquisas em Ciências Biológicas, Pró-Reitoria de Pesquisa e Pós Graduação, Universidade Federal de Ouro Preto. A cardiopatia induzida pela infecção pelo Trypanosoma cruzi aprensenta a inflamação como sua principal característica imunopatológica. Differente células inflamatórias contribuem para a produção de mediatores inflamatorios e regulatórios promotores diretos ou indiretos do processo denominado angiogênese inflamatória. As ...

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

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

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

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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.

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

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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

Oclusão de ramo venoso da retina associado ao uso de infliximabe: relato de caso

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Bruno Diniz

2011-06-01

Full Text Available Descrevemos o caso de uma paciente, de 53 anos, com quadro de oclusão de ramo venoso da retina após receber seis infusões de infliximabe (3 mg/kg/dose, para tratamento de artrite reumatóide. A investigação clínica e laboratorial sobre distúrbios de coagulação, cardiopatias e sinais de hipertensão arterial crônica foi negativa. A relação temporal do uso de infliximabe e o desenvolvimento do quadro de oclusão de ramo pode indicar um possível efeito adverso da medicação.

Influence of Use Lactobacillus plantarum with Probiotic Character of Portuguese Meat Chouriços

OpenAIRE

Taveira, Ana Filipa Cardona

2009-01-01

Dissertação de Mestrado em Engenharia Zootécnica Há uma preocupação cada vez maior da sociedade em incorporar alimentos saudáveis aos seus hábitos nutricionais quotidianos. Os alimentos não são somente vistos como uma simples forma de satisfazer as necessidades básicas ou mesmo de prevenir doenças crónicas degenerativas (obesidade, diabetes, cancro, cardiopatias, etc.), mas têm também evoluído para um novo conceito de promoção da saúde e bem-estar. A investigação das últimas décadas tem ac...

Avaliação ecocardiográfica em obesos graves assintomáticos

OpenAIRE

Rocha,Isaura Elaine Gonçalves Moreira; Victor,Edgar Guimarães; Braga,Maria Cynthia; Silva,Odwaldo Barbosa e; Becker,Mônica de Moraes Chaves

2007-01-01

OBJETIVO: Estudar a função sistólica e diastólica por meio da ecocardiografia Doppler em pacientes assintomáticos com obesidade grave. MÉTODOS: Foram avaliados, por meio de ecocardiograma transtorácico, 30 pacientes candidatos a cirurgia bariátrica, com IMC médio de 49,2±8,8 kg/m², sem história de cardiopatia prévia. RESULTADOS: Observou-se aumento de câmaras esquerdas em 42,9% da amostra, disfunção diastólica em 54,6%, hipertrofia ventricular esquerda em 82,1%, com padrão geométrico do tipo ...

Rothmund-Thomson Syndrome

DEFF Research Database (Denmark)

Suter, Aude-Annick; Itin, Peter; Heinimann, Karl

2016-01-01

with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses. METHODS: DNA samples from 43 patients were screened for variants in the 21 exons of the RECQL4...... to assess the patients' cancer risk, to avoid continuous and inconclusive clinical evaluations and to clarify the recurrence risk in the families. Additionally, it shows that the phenotype of more than 50% of the patients with suspected Rothmund-Thomson disease may be due to mutations in other genes raising...

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

Science.gov (United States)

Le Guen, Tangui; Jullien, Laurent; Schertzer, Mike; Lefebvre, Axelle; Kermasson, Laetitia; de Villartay, Jean-Pierre; Londoño-Vallejo, Arturo; Revy, Patrick

2013-12-01

RTEL1 (regulator of telomere length helicase 1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode Caenorhabditis elegans and the mouse, have highlighted its role in chromosomal stability, maintenance of telomere length, and DNA repair. Recently, four laboratories have characterized RTEL1 mutations in patients with dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson (HH) syndrome, a rare and severe variant of DC. We here summarize the current knowledge on RTEL1 and discuss the possible other functions that RTEL1 could play. © 2013 médecine/sciences – Inserm.

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

Treatment of wrist deformities in children with arthrogryposis multiplex congenita

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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.

Prevalência de transtornos psiquiátricos em portadores de prótese valvar mecânica com e sem febre reumática

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Regina Ponce da Silva

2011-01-01

Full Text Available OBJETIVO: Valvulopatias cardíacas, causadas por febre reumática e outras etiologias, podem levar ao implante de prótese valvar mecânica e anticoagulação oral obrigatória. Comorbidade psiquiátrica pode reduzir a adesão à anticoagulação. Esse estudo teve como objetivo avaliar a prevalência de transtornos psiquiátricos em pacientes com prótese valvar mecânica. MÉTODOS: Foram avaliados 193 portadores de prótese valvar mecânica, sendo 135 com cardiopatia reumática, tendo sido utilizada a Mini International Neuropsychiatric Interview, versão 5.0.0, para investigação quanto à presença de transtornos psiquiátricos. RESULTADOS: Foram encontrados os seguintes transtornos psiquiátricos nos pacientes avaliados: transtornos de ansiedade generalizada (16,6%, agorafobia (11,9%, fobia social (10,4%, depressão (9,8%, distimia (4,1% atual e 1% no passado, transtorno obsessivo-compulsivo (3,6%, pânico - vida inteira (1,6%, dependência ou abuso de substâncias (2%, dependência ou abuso de álcool (1%, episódio hipomaníaco (0,5% atual e 0,5% no passado, bulimia (0,5%. O risco de suicídio detectado foi de 13,4%. Ao ser comparada a prevalência dos transtornos no grupo com e sem cardiopatia reumática, não foi encontrada diferença estatisticamente significativa. CONCLUSÃO: Foi encontrada elevada comorbidade de transtornos psiquiátricos, principalmente transtornos ansiosos e depressão, sendo também elevado o risco de suicídio nessa população.

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

Energy Technology Data Exchange (ETDEWEB)

Orioli, I.M. [Universidade Federal do Rio de Janeiro (Brazil); Castilla, E.E. [Centro de Educacion Medica e Investigacion Clinica, Buenos Aires (Argentina); Scarano, G.; Mastroiacovo, P. [Universita Cattolica, Rome (Italy)

1995-11-06

The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite (IPIMC) and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congenitas (ECLAMC) series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 {plus_minus} 6.74 years in the IPIMC, and 37.19 {plus_minus} 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 {plus_minus} 7.08 years in the IPIMC, and 36.41 {plus_minus} 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 {plus_minus} 9.25 years, but not in the IPIMC, 32.26 {plus_minus} 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ-line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area. 28 refs., 1 fig., 6 tabs.

Prevalência de megas em necrópsias realizadas no triângulo mineiro no período de 1954 a 1988

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Edison Reis Lopes

1989-12-01

Full Text Available Dentre 1708 necrópsias de chagásicos crônicos, de um total de 4690, diagnosticamos 273 megas. Destes o mais freqüente foi o megacólon, seguido pelo megaesôfago, ocupando a associação megacólon e megaesôfago o terceiro lugar. Discutem-se e comparam-se os achados com outros de ordem clinico-epidemiológica e anatomopatológica. Confirmando dados da literatura, nossos achados atuais mostram, que a exemplo do que sucede na cardiopatia chagásica, o megacólon e o megaesôfago predominam no sexo masculino, discutindo-se os fatores que poderiam explicar a razão desse fato.

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

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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

Treatment of the Upper Extremity Contracture/Deformities.

Science.gov (United States)

Oishi, Scott N; Agranovich, Olga; Pajardi, Giorgio E; Novelli, Chiara; Baindurashvili, Alexey G; Trofimova, Svetlana I; Abdel-Ghani, Hisham; Kochenova, Evgenia; Prosperpio, Giulietta; Jester, Andrea; Yilmaz, Güney; Şenaran, Hakan; Kose, Oksana; Butler, Lesley

Patients with arthrogryposis multiplex congenita have a characteristic upper extremity resting posture consisting of internal rotation of the shoulders, elbow extension, flexed wrists, thumb-in palm deformities, and variable degrees of finger contractures. Treatment of these patients is aimed at improving independence and performance of activities of daily living. Although each area needs to be assessed independently for the most appropriate surgical procedure, often multiple areas can be addressed at the same operative setting. This limits the number of anesthetic exposures and cast immobilization time. The following is a synopsis of treatment strategies presented at the second international symposium on Arthrogryposis which took place in St Petersburg in September 2014.

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

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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

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

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

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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.

Mortalidade hospitalar na cirurgia de reconstrução da via de saída do ventrículo direito com homeonxerto pulmonar Hospital mortality in surgery for reconstruction outflow right ventricle with pulmonary homograft

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Andrea Weirich Lenzi

2010-03-01

Full Text Available FUNDAMENTO: Mortalidade hospitalar na cirurgia de reconstrução da via de saída do ventrículo direito com homoenxerto pulmonar é variável. OBJETIVOS: Identificar os fatores de risco associados à mortalidade hospitalar e ao perfil clínico dos pacientes. MÉTODOS: Estudo de crianças submetidas à reconstrução da via de saída do ventrículo direito com homoenxerto pulmonar. Analisados como fatores de risco as variáveis clínicas, cirúrgicas e de aspectos morfológicos da prótese. RESULTADOS: Noventa e dois pacientes foram operados entre 1998 e 2005, apresentando principalmente atresia pulmonar com comunicação interventricular e a tetralogia de Fallot. Quarenta pacientes foram atendidos no primeiro mês de vida. Necessitaram de 38 cirurgias de Blalock Taussig devido à gravidade clínica. A idade mediana na cirurgia de correção total foi de 22 meses, variando de 1 mês a 157 meses. O tamanho homoenxerto pulmonar variou de 12 a 26 mm e o tempo de extracorpórea foi 132 ± 37 minutos. Após a cirurgia houve 17 óbitos (18% casos, em média 10,5 ± 7,5 dias após. A causa predominante foi falência de múltiplos órgãos. Na análise univariada entre os tipos de cardiopatia, estas deferiram na idade, momento da cirurgia, tamanho do homoenxerto, valor Z da valva pulmonar, tempo de circulação extracorpórea, manutenção da integridade do homoenxerto e alteração da árvore pulmonar. Não houve diferença estatística com relação à mortalidade hospitalar entre as variáveis e o tipo de cardiopatia. CONCLUSÃO: As cardiopatias obstrutivas do lado direito necessitam de atendimento cirúrgico nos primeiros dias de vida. A cirurgia de correção total apresenta risco de mortalidade de 18%, mas não houve associação com nenhuma variável estudada.BACKGROUND: Hospital mortality for surgical reconstruction of the outflow of the right ventricle with pulmonary homograft is variable. OBJECTIVES: To identify risk factors associated with

Endocardite infecciosa em adolescentes. Análise dos fatores de risco de mortalidade intra-hospitalar Infective endocarditis in adolescents. analysis of risk factors for in-hospital mortality

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Nádia Barreto Tenório Aoun

1997-12-01

Full Text Available OBJETIVO: Estudar os aspectos epidemiológicos, clínicos, terapêuticos e evolutivos da endocardite infecciosa (EI em grupo de pacientes com idade entre 12 e 20 (média de 15,5 anos. MÉTODOS: Foram estudados, retrospectivamente, 33 pacientes consecutivos (14 do sexo masculino e 19 do feminino, admitidos com diagnóstico de EI. RESULTADOS: A mortalidade da EI foi de 42%. A cardiopatia reumática predominou como condição predisponente (63% dos casos, seguida das cardiopatias congênitas (24% e próteses cardíacas (12%. A maioria dos pacientes (78% encontrava-se na admissão em CF III e IV e apresentava mortalidade significativamente maior do que os que se encontravam na CF I e II (p=0,01. Complicações embólicas foram detectadas em 51% e determinaram maior mortalidade (p=0,05. O agente etiológico mais isolado foi o Staphylococcus aureus (em 42% das hemoculturas positivas, seguido do Staphylococcus viridans (em 21%. A análise multivariada mostrou que a contagem global de leucócitos acima de 10.000/mm ³, e a CF referidos na admissão (p=0,01 e p=0,04, e a ocorrência de embolias (p=0,03 eram preditores independentes de mortalidade intra-hospitalar. CONCLUSÃO: A cardiopatia reumática permanece, semelhante à população adulta, como principal fator predisponente da EI nos adolescentes, tendo como principal agente etiológico o S.aureus, semelhante à população pediátrica. A mortalidade é elevada e representam preditores de mortalidade intra-hospitalar a CF na admissão, a ocorrência da fenômenos embólicos e a leucocitose.PURPOSE: To study the epidemiological, clinical, therapeutic and evolutive aspects of endocarditis in a group of patients aging 12 to 20 years-old ( mean 15.5. METHODS: Thirty-three consecutive patients (14 males, 19 females admitted with infective endocarditis were retrospectively studied. RESULTS: Infective endocarditismortality was 42%. Rheumatic heart disease was the predominant underlying condition in 63% of

Cuidados imediatos no pós-operatório de cirurgia cardíaca Immediate post-operative care following cardiac surgery

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Paulo Ramos David João

2003-11-01

Full Text Available OBJETIVO: Apresentar uma rotina de atendimento para crianças submetidas à cirurgia cardíaca. FONTES DOS DADOS: Realizada revisão bibliográfica através de bancos de dados (Medline, Mdconsult, PubMed, analisando as condutas sugeridas por diversos serviços fora do Brasil e comparando com a rotina de atendimento no Hospital Infantil Pequeno Príncipe, de Curitiba, onde foram realizadas cerca de 8.000 cirurgias cardíacas desde 1977 até abril de 2003. SÍNTESE DOS DADOS: O serviço citado é referência em cardiologia e cirurgia cardíaca no estado do Paraná e estados vizinhos. A evolução das condições de diagnóstico, preparo da equipe clínica e cirúrgica, unidade de terapia intensiva (UTI melhor equipada com monitorização mais avançada, equipe da UTI com pessoal treinado em todas as áreas para fazer pós-operatório de cirurgia cardíaca, estrutura hospitalar adequada, oferecendo atendimento avançado em todas as especialidades pediátricas e paramédicas, fazem com que o resultado das intervenções cirúrgicas realizadas em crianças com cardiopatias congênitas ou adquiridas, principalmente nos recém-nascidos e lactentes jovens com cardiopatias complexas, apresente sensível melhora quando comparado com anos anteriores. CONCLUSÃO: As crianças com cardiopatias, principalmente as complexas, devem ser encaminhadas para um local que seja centro de referência, onde haja condições para um atendimento global no pré, per e pós-operatório.OBJECTIVE: To present a care routine for children submitted to heart surgery. SOURCE OF DATA: Literature review of Medscape, MD Consult and PubMed. Analysis of the suggested conducts adopted by various services from different countries and comparison with the care routine at the Pequeno Príncipe Children's Hospital (Curitiba, state of Paraná, where approximately 8,000 heart surgeries were performed in children from 1977 to April 2003. SUMMARY OF THE FINDINGS: Our hospital is a reference

The spectrum of myopathies in the city of São Paulo

Directory of Open Access Journals (Sweden)

José A. Levy

1976-12-01

Full Text Available A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported. A total of 466 cases were examined and distributed as follows: 56% of progressive muscular dystrophy; 31% of myasthenia gravis; 6% of polymyositis; 4% of myotonic dystrophy; and the remainder of several different diseases (central core disease, Kearns-syndrome, myotonia congenita, adynamia episodica hereditaria, diabetic myopathy and Eaton-Lambert syndrome. Enzymatic dosages, electromyography, muscle biopsy, electrocardiography and genetic counselling are also reported.Os autores fazem uma revisão de todos os casos de miopatias tratados na Clínica Neurológica da F.M.U.S.P. durante os últimos 15 anos. Foram examinados 466 casos, assim distribuídos: 56% de distrofia muscular progressiva; 31% de miastenia grave; 6% de polimiosite; 4% de distrofia miotônica e, o restante, de várias outras moléstias (Central core disease, síndrome de Kearns, miotonia congênita, adinamia episódica hereditária, miopatia diabética e síndrome de Eaton-Lambert. São relatadas também as dosagens enzimáticas, eletromiografia, biópsia muscular, eletrocardiografia e aconselhamento genético.

[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

Experiência inicial com operações cardíacas minimamente invasivas Initial experience with minimally invasive cardiac operations

Directory of Open Access Journals (Sweden)

Francisco Costa

2012-09-01

Full Text Available INTRODUÇÃO: Operações cardíacas minimamente invasivas têm sido propostas como uma alternativa para a correção de diversas cardiopatias congênitas e adquiridas, com o intuito de reduzir a morbimortalidade. OBJETIVOS: Descrever a experiência inicial de dois anos com operações cardíacas minimamente invasivas, com ênfase nos aspectos técnicos e na curva de aprendizado. MÉTODOS: Entre julho de 2009 a março de 2012, 95 pacientes foram operados com técnicas minimamente invasivas. A média de idade foi de 55±15 anos e 53% pacientes eram do sexo feminino. As operações foram fechamento de comunicação interatrial (25, substituição valvar aórtica (32, plastia mitral (23, substituição valvar mitral (12, ressecção de mixoma de átrio esquerdo (2 e ressecção de membrana subaórtica (1. A incisão consistiu de minitoracotomia lateral direita em 87 casos e de miniesternotomia em oito. RESULTADOS: A mortalidade imediata foi de 4,2%, e o tamanho médio da incisão foi de 6,3 ± 1,2 cm. A extensão da toracotomia só foi necessária em um caso. Dois pacientes apresentaram acidente vascular cerebral, e a quantidade total de sangramento foi de 470 ± 277 ml. Nenhum paciente teve infecção de ferida operatória, e 67% dos casos não apresentaram morbidade pós-operatória significativa. CONCLUSÕES: Os resultados iniciais com operações minimamente invasivas demonstraram que elas podem ser realizadas de forma segura e com resultados iniciais satisfatórios. O índice de satisfação dos pacientes foi elevado. Uma vez ultrapassada a curva de aprendizado, as operações minimamente invasivas podem ser uma excelente alternativa para muitos pacientes com cardiopatias valvares e congênitas.BACKGROUND: Minimally invasive cardiovascular operations have been proposed as an alternative method to correct several cardiac congenital and acquired heart diseases, with the aim to reduce morbidity and mortality. OBJECTIVES: Describe the two years

Hipertensão pulmonar secundária à fístulas coronarianas para tronco da pulmonar Pulmonary hypertension secondary to coronary-to-pulmonary artery fistula

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José Ramos Filho

2008-08-01

Full Text Available A fístula coronariana é uma anomalia caracterizada por comunicação entre uma artéria coronária e uma câmara cardíaca, artéria pulmonar, seio coronariano e veias pulmonares. Representa 0,2% a 0,4 % das cardiopatias congênitas e 0,1% a 0,2% da população adulta submetida a angiografia coronariana. Relatamos o caso clínico de uma paciente com 64 anos, cuja anomalia foi diagnosticada durante investigação clínica por desconforto torácico, dispnéia e síncope, sendo indicada correção cirúrgica com abertura da artéria pulmonar através de circulação extracorpórea.The coronary fistula is an anomaly characterized by the communication between a coronary artery and a cardiac chamber, pulmonary artery, coronary sinus and pulmonary veins. It represents 0.2 to 0.4% of the congenital cardiopathies and 0.1% to 0.2% of the adult population submitted to coronary angiography. We report the clinical case of a 64-year-old female patient, whose anomaly was diagnosed during a clinical investigation due to chest discomfort, dyspnea and syncope; the surgical correction was indicated, with opening of the pulmonary artery through extracorporeal circulation.

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

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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.

Repair of closely opposed cyclobutyl pyrimidine dimers in UV-sensitive human diploid fibroblasts

International Nuclear Information System (INIS)

Lam, L.H.; Reynolds, R.J.

1986-01-01

An enzyme-sensitive site assay has been used to examine the fate of closely opposed pyrimidine dimers in fibroblasts from individuals afflicted with various genetic disorders that confer increased cellular sensitivity to UV radiation. The disappearance of bifilar enzyme-sensitive sites was found to be normal in cells from individuals with Fanconi's anemia, Cockayne's syndrome, dyskeratosis congenita and the variant form of xeroderma pigmentosum. The rate of bifilar enzyme-sensitive site removal in XP cells assigned to complementation group C was reduced by an amount similar to that observed for the repair of isolated dimers. Our results indicate that the initiation of repair at closely opposed dimers is slow in XP-C cells but normal in all other cells examined. (Auth.)

RTEL1: functions of a disease-associated helicase.

Science.gov (United States)

Vannier, Jean-Baptiste; Sarek, Grzegorz; Boulton, Simon J

2014-07-01

DNA secondary structures that arise during DNA replication, repair, and recombination (3R) must be processed correctly to prevent genetic instability. Regulator of telomere length 1 (RTEL1) is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate 3R processes and to maintain telomere integrity. The past few years have witnessed the emergence of RTEL1 variants that confer increased susceptibility to high-grade glioma, astrocytomas, and glioblastomas. Mutations in RTEL1 have also been implicated in Hoyeraal-Hreidarsson syndrome, a severe form of the bone-marrow failure and cancer predisposition disorder, dyskeratosis congenita. We review these recent findings and highlight its crucial link between DNA secondary-structure metabolism and human disease. Copyright © 2014 Elsevier Ltd. All rights reserved.

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...

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 ...

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 ...

Truncus arteriosus operado aos 28 anos: importância do diagnóstico diferencial

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Lilian Maria Lopes

2011-08-01

Full Text Available Descrevemos um caso de adulto de 28 anos com suspeita de cardiopatia congênita desde o nascimento, não tratada na infância por opção da família. Aos 27 anos, foi feito diagnóstico de atresia pulmonar com comunicação interventricular e colaterais sistêmico-pulmonares, sendo contraindicada a cirurgia. Uma nova reavaliação em nosso serviço demonstrou tratar-se de um truncus arteriosus atípico. O fato de um tronco arterial comum com shunt esquerda-direita ter sido visualizado ao ecocardiograma foi um dado crucial para a indicação de novo cateterismo, abrindo perspectiva de correção cirúrgica. No momento, o paciente encontra-se bem, com 7 anos de evolução pós-operatória.

The Case for Case Reports

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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

Familial Investigations of Childhood Cancer Predisposition

Science.gov (United States)

2018-01-03

Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

Espectro óculo-aurículo-vertebral e malformações cardíacas Oculo-auriculo-vertebral spectrum and cardiac malformations

Directory of Open Access Journals (Sweden)

Rafael Fabiano Machado Rosa

2010-01-01

Full Text Available OBJETIVO: Verificar a frequência e tipos de cardiopatias congênitas em uma amostra de pacientes portadores de espectro óculo-aurículo-vertebral (EOAV, tentando correlacionar a presença desta malformação com suas demais características clínicas e evolução. MÉTODOS: A amostra foi composta por 33 indivíduos, todos atendidos em um mesmo centro, no período de janeiro de 1975 a dezembro de 2007. Vinte e dois deles eram do sexo masculino e 11 do feminino e suas idades variaram de 1 dia a 17 anos. Todos apresentavam avaliação cariotípica normal por bandas GTG. Realizou-se uma coleta de dados referentes à sua história clínica, exame físico e resultado de avaliações complementares. RESULTADOS: Anormalidades cardíacas foram observadas em 13 pacientes (39,4%. Dessas, cinco (38,5% eram do tipo conotruncal, sendo o principal defeito a tetralogia de Fallot (n=2. Malformações não usuais identificadas incluíram o cor triatriatum e a dupla via de entrada de ventrículo esquerdo. Diferenças significativas entre as características clínicas do grupo com e sem cardiopatia foram verificadas somente em relação à idade na primeira avaliação, que foi mais baixa naqueles com malformações cardíacas. Cinco indivíduos foram a óbito, quatro deles portadores desses defeitos. CONCLUSÃO: Malformações cardíacas, em especial dos tipos conotruncal e septal, são frequentes entre pacientes com EOAV. A frequência encontrada em nosso estudo foi estatisticamente similar à da maior parte dos trabalhos descritos na literatura, que oscila de 18% a 58%. As cardiopatias congênitas também representam a principal causa de óbito desses indivíduos. Portanto, uma avaliação cardiológica, especialmente precoce, deveria ser sempre realizada nesses pacientes.OBJECTIVE: To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS, in an effort to correlate presence of these

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.

Ecocardiografia transesofágica e diagnóstico intraoperatório de veia cava superior esquerda persistente Ecocardiografía transesofágica y diagnóstico intraoperatorio de vena cava superior izquierda persistente Transesophageal echocardiography and intraoperative diagnosis of persistent left superior vena cava

Directory of Open Access Journals (Sweden)

Alexander Alves da Silva

2009-12-01

Full Text Available JUSTIFICATIVA E OBJETIVOS: A persistência da veia cava superior esquerda ocorre isoladamente em 0,5% da população normal, porém nos pacientes com cardiopatia congênita chega a estar presente em 3% a 10% dos casos. O objetivo deste relato foi apresentar um caso de diagnóstico intraoperatório com o auxílio da ecocardiografia transesofágica e ressaltar a importância da sua utilização rotineira em intervenções cirúrgicas para correção de cardiopatia congênita. RELATO DO CASO: Paciente do sexo masculino, 16 anos, ASA II, com diagnóstico prévio de comunicação interatrial (CIA tipo seio venoso superior com drenagem anômala parcial de veias pulmonares em programação para correção cirúrgica da cardiopatia. Após indução da anestesia geral foi realizado ecocardiograma transesofágico (ETE. O exame inicial mostrou dilatação das câmaras cardíacas direitas, CIA tipo seio venoso superior de 17 milímetros, drenagem anômala da veia pulmonar superior direita desembocando na veia cava superior (VCS direita e dilatação do seio coronário, o que aventou a possibilidade da persistência da veia cava superior esquerda. Para a confirmação da suspeita foram injetados no acesso venoso do braço esquerdo 10 mL de solução fisiológica a 0,9% (faz o papel de "contraste" no exame ecocardiográfico e imediatamente após foram visualizadas as microbolhas passando pelo seio coronário, teste positivo para o diagnóstico de VCS superior esquerda persistente. CONCLUSÕES: A ecocardiografia transesofágica rotineira no intraoperatório de pacientes com cardiopatia congênita tem fundamental importância como método auxiliar não só ao cirurgião, muitas vezes influenciando diretamente na técnica cirúrgica empregada, como também para o anestesiologista, que pode extrair do exame uma série de informações úteis no manuseio hemodinâmico do paciente.JUSTIFICATIVA Y OBJETIVOS: La persistencia de la vena cava superior izquierda ocurre

Aceitação de dietas com reduzido teor de sódio entre cardiopatas em um hospital terciário = Acceptance of low-sodium diets among patients with heart diseases in a tertiary hospital

Directory of Open Access Journals (Sweden)

Santos, Bruna Fraga dos

2012-01-01

Full Text Available Objetivo: Avaliar a aceitação de dietas com restrição de sal por pacientes portadores de cardiopatias admitidos em um hospital terciário de Porto Alegre, RS. Materiais e Métodos: Estudo transversal entre pacientes com prescrição de dietas restritas em sódio, padronizadas pelo hospital. Foram verificados os restos de alimentos de uma refeição (almoço ou jantar através de pesagem e o estado nutricional foi detectado através de Avaliação Subjetiva Global (ASG. Dados demográficos e motivos para a aceitação ou não da dieta foram verificados através de questionário. Resultados: Entre 173 pacientes avaliados, a média de idade foi de 63±14,4 anos, 84% foram classificados como bem nutridos (A de acordo com ASG e 16% moderadamente/suspeita (ASG B. Quanto à aceitação, 71% relataram não aceitar plenamente a refeição fornecida pelo hospital. Em contrapartida, 73% relataram que já restringiam o cloreto de sódio na alimentação em casa. A carne foi a preparação com melhor aceitação, e o arroz com menor aceitação. Na mediana, em torno de 167 kcal deixaram de ser consumidas em uma refeição, representando uma redução de 8% do valor energético total diário fornecido pela dieta prescrita. Não houve diferença entre a aceitação do tipo de dieta restrita em sal padronizada (“Hipossódica” e “Cardiopatia” e o motivo mais citado para a não aceitação das refeições foi a falta de sal. Conclusões: A redução de sódio foi o fator relatado que mais influenciou para a não aceitação da refeição entre as dietas prescritas. O valor energético que deixa de ser ingerido pode afetar negativamente o estado nutricional dos pacientes

A lesão apical em cardiopatas chagásicos crônicos: estudo necroscópico Apical lesions in Chagas' heart disease patients: an autopsy study

Directory of Open Access Journals (Sweden)

Cristina Brandt Friedrich Martin Gurgel

2010-12-01

Full Text Available INTRODUÇÃO: A lesão apical ventricular é típica da cardiopatia chagásica e sua presença representa risco de fenômenos tromboembólicos. O objetivo deste trabalho é avaliar a frequência de LA à necropsia de portadores de cardiopatia chagásica crônica. MÉTODOS: Análise retrospectiva de necropsias de chagásicos maiores que 17 anos. Efetuada análise estatística comparativa das variáveis clínicas e dos achados necroscópicos entre o grupo A (com lesão apical e o grupo B (ausência de lesão apical. RESULTADOS: Estudados 51 casos: 25 no grupo A (idade média de 53 anos, 64% do sexo masculinoe 26 no B.. A LA localizava-se no ventrículo esquerdo em 80% casos. No grupo B, a média de idade foi de 56 anos e 46,1% eram do sexo masculino. A forma clínica prevalente nos dois grupos foi a miopática, mas arritmia cardíaca também esteve presente em ambos (57,9% no grupo A e 32,1% no B. Foi constatada a presença de trombos em 60% dos casos do grupo A (53,3% localizados na LA e 30,7% no B; CONCLUSÕES: Houve predomínio da forma miopática nos casos com LA, com média de peso cardíaco maior em relação ao B. Em ambos os grupos observamos relação diretamente proporcional entre maior peso cardíaco e presença de tromboses. Houve predomínio do número de tromboses no grupo A, mais de 50% eram localizadas na lesão, cujo diferencial clínico principal consistiu na presença maior de arritmias. A miopatia (com aumento de peso acima de 500g foi primordial para aparecimento de tromboses.INTRODUCTION: The presence of an apical ventricular lesion increases the risk of intracardiac thrombosis and thromboembolic phenomena. The study evaluated the incidence of apical lesions and intracardiac thrombosis in Chagas' heart disease patients at autopsy. METHODS: A retrospective review of autopsies of Chagas' heart disease patients was conducted. Statistical analysis included comparison of clinical variables and autopsy findings between two groups

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...

Implantate und Verfahren in der Augenheilkunde

Science.gov (United States)

Neuhann, Tobias H.

Das in der Medizin mit am häufigsten verwendete Implantat weltweit ist die Intraokulare Linse (IOL). Die Gründe hierfür sind vielschichtig: einmal haben die Operationstechniken in den letzten 30 Jahren eine wesentliche Steigerung an Gleichmäßigkeit, Erfolg und Effizienz erfahren, zum anderen verursachen die gestiegenen Anforderungen des Alltags in den Industrienationen und im Berufsleben den höheren Anspruch an das Sehvermögen. Ist die menschliche Linse Ursache für schlechtes Sehvermögen, besteht meist eine Trübung des Linsenproteins. Diese Trübung nennt wird Volksmund Grauer Star genannt, wissenschaftlich die Katarakt (cataracta). Es gibt unterschiedliche Formen wie angeborene (congenita) oder erworbene, traumatische, krankheitsoder altersbedingte Formen [45]. Wird die eingetrübte Linse nun mittels moderner Operationsverfahren entfernt, muss für Ersatz dieses lichtbrechenden Mediums gesorgt werden [2].

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

Science.gov (United States)

Faure, Guilhem; Revy, Patrick; Schertzer, Michael; Londono-Vallejo, Arturo; Callebaut, Isabelle

2014-06-01

Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation and DNA repair, cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of dyskeratosis congenita. Using original new softwares, facilitating the delineation of the different domains of the protein and the identification of remote relationships for orphan domains, we outline here that the C-terminal extension of RTEL1, downstream of its catalytic domain and including several HHS-associated mutations, contains a yet unidentified tandem of harmonin-N-like domains, which may serve as a hub for partner interaction. This finding highlights the potential critical role of this region for the function of RTEL1 and gives insights into the impact that the identified mutations would have on the structure and function of these domains. © 2013 Wiley Periodicals, Inc.

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Science.gov (United States)

Abiusi, Emanuela; D'Alessandro, Manuela; Dieterich, Klaus; Quevarec, Loic; Turczynski, Sandrina; Valfort, Aurore-Cecile; Mezin, Paulette; Jouk, Pierre Simon; Gut, Marta; Gut, Ivo; Bessereau, Jean Louis; Melki, Judith

2017-10-15

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Homozygosity mapping of disease loci combined with whole exome sequencing in a consanguineous family presenting with lethal AMC allowed the identification of a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4) in the index case. To assess the effect of the mutation, an equivalent mutation in the Caenorhabditis elegans orthologous gene was created using CRISPR/Cas9. We demonstrated that unc-50(kr331) modification caused the loss of acetylcholine receptor (AChR) expression in C. elegans muscle. unc-50(kr331) animals were as resistant to the cholinergic agonist levamisole as unc-50 null mutants suggesting that AChRs were no longer expressed in this animal model. This was confirmed by using a knock-in strain in which a red fluorescent protein was inserted into the AChR locus: no signal was detected in unc-50(kr331) background, suggesting that UNC-50, a protein known to be involved in AChR trafficking, was no longer functional. These data indicate that biallelic mutation in the UNC50 gene underlies AMC through a probable loss of AChR expression at the neuromuscular junction which is essential for the cholinergic transmission during human muscle development. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

[Pharmacotherapy of hyperthyreosis--adverse drug reactions].

Science.gov (United States)

Perger, Ludwig; Bürgi, Ulrich; Fattinger, Karin

2011-06-01

generally observed only after long term exposure to propylthiouracil or very rarely with the thioimidazoles. The teratogenic risk of the thioimidazoles is somewhat higher (Aplasia cutis congenita), that is why one generally recommends preferring propylthiouracil during pregnancy. During breast feeding both, thioimidazoles or propylthiouracil, may be administered. Nowadays, perchlorate is only used short term in case of latent hyperthyroidism before administering iodine-containing contrast agents. Therefore, the known side effects, which usually are only observed after long term treatment, are not an issue any more.

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.

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.

Stories as case knowledge: case knowledge as stories.

Science.gov (United States)

Cox, K

2001-09-01

Every case contains a human story of illness and a medical story of disease, which together cover person management, case management, health system management and self-management. Much of that management can be learned via a thorough set of stories of typical and atypical core cases compiled by clinical teachers. Stories provide a highly flexible framework for illustrating the lessons of experience, the tips and traps for young players, and the dilemmas requiring careful judgement in the trade-offs between benefits and risks. Listening to real stories unfold is much more fun than being lectured (and better remembered). Stories illustrate 'what can happen' in a case as a guide to 'what to do'. A story begins with a real world situation with some predicament and a (causal) sequence of events or plot in which things are resolved one way or another. Patients tell their illness story; their clinician translates that into a disease story. Stories sort out what is important in such a predicament, consider the strategy and tactics of what to do, and speak about the outcomes. Each local situation provides relevance, context and circumstantial detail. Stories about case management can encapsulate practical knowledge, logical deduction, judgement and decision making, sharing with the student all the ingredients that develop expertise. Sometimes it is the plot that is important, sometimes the detail, sometimes it is the underlying message, the parable that resonates with the listener's experiences and feelings.1 Stories can also accommodate the complexity of multiple variables and the influence of other stakeholders, the uncertainties and dilemmas within the trade-offs, and the niceties of 'informed judgement'. This paper makes four points. First, clinical stories recount pointed examples of 'what happened' that expand our expertise in handling 'a case like that'. Second, cases are the unit of clinical work. Case stories expand the dimensions and details of case knowledge

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�

Location of gliomas in relation to mobile telephone use: a case-case and case-specular analysis

DEFF Research Database (Denmark)

Larjavaara, Suvi; Schüz, Joachim; Swerdlow, Anthony

2011-01-01

approaches: In a case-case analysis, tumor locations were compared with varying exposure levels; in a case-specular analysis, a hypothetical reference location was assigned for each glioma, and the distances from the actual and specular locations to the handset were compared. The study included 888 gliomas......The energy absorbed from the radio-frequency fields of mobile telephones depends strongly on distance from the source. The authors' objective in this study was to evaluate whether gliomas occur preferentially in the areas of the brain having the highest radio-frequency exposure. The authors used 2...... from 7 European countries (2000-2004), with tumor midpoints defined on a 3-dimensional grid based on radiologic images. The case-case analyses were carried out using unconditional logistic regression, whereas in the case-specular analysis, conditional logistic regression was used. In the case-case...

PROFILE AND IDENTIFICATION OF NURSING DIAGNOSES OF NEWBORNS WITH CONGENITAL HEART DISEASE

Directory of Open Access Journals (Sweden)

Isabel Tomie Urakawa

2012-11-01

Full Text Available OBJETIVO: Caracterizar o perfil e os diagnósticos de enfermagem do neonato com cardiopatia congênita. MÉTODO: Trata-se de um estudo descritivo, exploratório e retrospectivo. Foram analisados 46 prontuários de neonatos internados no período de novembro de 2000 a dezembro de 2008. RESULTADOS: a maioria era do sexo masculino (61%, com idade média de 15,5dias,as patologias mais prevalentes foram Comunicação interatrial (48%, Persistência do Canal Arterial (33% e Comunicação interventricular (30%. Os diagnósticos de enfermagem prevalentes foram: risco para diminuição do débito cardíaco (91,3% e insaturação arterial periférica (80,4%. CONCLUSÃO: conhecer as características do neonato com doença cardíaca congênita favorece a prestação da assistência de enfermagem direcionada pelos diagnósticos de enfermagem.

Efeitos de Intervenção Cognitivo-Comportamental sobre Fatores de Risco Psicológicos em Cardiopatas

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Ricardo Gorayeb

Full Text Available RESUMODiminuir fatores de risco para cardiopatias pode melhorar a qualidade de vida e reduzir a mortalidade e morbidade relacionadas a elas.O presente estudo avaliou a eficácia de uma intervenção cognitivo-comportamental em grupo sobre ansiedade, depressão, estresse e saúde cardiovascular em cardiopatas. Foram avaliados 91 pacientes antes e após participação nos grupos, com entrevistas semiestruturadas, Inventários Beck (Ansiedade e Depressão e Inventário de Sintomas de Stress para Adultos de Lipp. Coletaram-se medidas fisiológicas para cálculo do escore de Framingham. A participação no grupo resultou em redução dos sintomas de ansiedade, depressão, estresse e melhora do enfrentamento ao estresse. Não houve diferença no escore de Framingham. A intervenção se mostrou eficaz para a redução dos fatores de risco psicológicos nessa amostra.

[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.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Science.gov (United States)

Le Guen, Tangui; Jullien, Laurent; Touzot, Fabien; Schertzer, Michael; Gaillard, Laetitia; Perderiset, Mylène; Carpentier, Wassila; Nitschke, Patrick; Picard, Capucine; Couillault, Gérard; Soulier, Jean; Fischer, Alain; Callebaut, Isabelle; Jabado, Nada; Londono-Vallejo, Arturo; de Villartay, Jean-Pierre; Revy, Patrick

2013-08-15

Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective in HHS/DC, underlining the relationship between telomere dysfunction and these diseases. By combining whole-genome linkage analysis and exome sequencing, we identified compound heterozygous RTEL1 (regulator of telomere elongation helicase 1) mutations in three patients with HHS from two unrelated families. RTEL1 is a DNA helicase that participates in DNA replication, DNA repair and telomere integrity. We show that, in addition to short telomeres, RTEL1-deficient cells from patients exhibit hallmarks of genome instability, including spontaneous DNA damage, anaphase bridges and telomeric aberrations. Collectively, these results identify RTEL1 as a novel HHS-causing gene and highlight its role as a genomic caretaker in humans.

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.

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.

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

Using existing case-mix methods to fund trauma cases.

Science.gov (United States)

Monakova, Julia; Blais, Irene; Botz, Charles; Chechulin, Yuriy; Picciano, Gino; Basinski, Antoni

2010-01-01

Policymakers frequently face the need to increase funding in isolated and frequently heterogeneous (clinically and in terms of resource consumption) patient subpopulations. This article presents a methodologic solution for testing the appropriateness of using existing grouping and weighting methodologies for funding subsets of patients in the scenario where a case-mix approach is preferable to a flat-rate based payment system. Using as an example the subpopulation of trauma cases of Ontario lead trauma hospitals, the statistical techniques of linear and nonlinear regression models, regression trees, and spline models were applied to examine the fit of the existing case-mix groups and reference weights for the trauma cases. The analyses demonstrated that for funding Ontario trauma cases, the existing case-mix systems can form the basis for rational and equitable hospital funding, decreasing the need to develop a different grouper for this subset of patients. This study confirmed that Injury Severity Score is a poor predictor of costs for trauma patients. Although our analysis used the Canadian case-mix classification system and cost weights, the demonstrated concept of using existing case-mix systems to develop funding rates for specific subsets of patient populations may be applicable internationally.

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.

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.

CASE REPORT CASE CASE R The many faces of hydatid disease

African Journals Online (AJOL)

CASE R. Case report. A 35-year-old man presented with a right chest wall mass. Chest radio- graphs revealed pleural thickening underlying a soft tissue mass which obscured the 5th to 7th ribs, and an expansile osteolytic lesion of the 7th rib. Ultrasound examination demonstrated a fluid-filled cystic lesion of the chest wall ...

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.

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

Directory of Open Access Journals (Sweden)

Lina Bollani

2014-01-01

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

Ataques de pânico são realmente inofensivos? O impacto cardiovascular do transtorno de pânico Are panic attacks really harmless? The cardiovascular impact of panic disorder

Directory of Open Access Journals (Sweden)

Aline Sardinha

2009-03-01

Full Text Available OBJETIVO: Estresse e depressão já são considerados fatores de risco para o desenvolvimento e o agravamento de doenças cardiovasculares. Os transtornos de ansiedade têm sido fortemente associados às cardiopatias nos últimos anos. O transtorno de pânico em cardiopatas representa um desafio em termos de diagnóstico e tratamento. Atualizar o leitor quanto ao status da associação entre transtornos de ansiedade, especialmente transtorno de pânico, e cardiopatias. MÉTODO: Foi realizada uma busca nas bases de dados ISI e Medline, com as palavras-chave: "heart disease", "coronary disease", "anxiety", "panic disorder" e "autonomic function". Foram selecionados os artigos publicados a partir de 1998. DISCUSSÃO: O padrão autonômico encontrado em pacientes com transtorno de pânico, em particular a redução da variabilidade cardíaca, é apontado como o provável fator mediador do impacto cardiovascular do transtorno de pânico. CONCLUSÕES: Apesar de a associação entre transtornos de ansiedade e doenças cardiovasculares estar atualmente bastante estabelecida, existem ainda diversas lacunas no estado atual do conhecimento. São recomendadas a terapia cognitivo-comportamental e a prática de exercícios físicos supervisionados como potenciais coadjuvantes na intervenção terapêutica.OBJECTIVE: Psychosocial stress and depression have already been established as risk factors for developing and worsening cardiovascular diseases. Anxiety disorders are been strongly associated to cardiac problems nowadays. Panic disorder in cardiac patients represents a challenge for diagnose and treatment. Update the reader on the status of the association between anxiety disorders, particularly panic disorder, in cardiac patients. METHOD: Were retrieved papers published at ISI and Medline databases since 1998. Key-words used were: "heart disease", "coronary disease", "anxiety", "panic disorder" and "autonomic function". DISCUSSION: The characteristic

Representações, mitos e comportamentos do paciente submetido ao implante de marcapasso na doença de Chagas Representations, myths, and behaviors among Chagas disease patients with pacemakers

Directory of Open Access Journals (Sweden)

Claudia Magnani

2007-07-01

Full Text Available Estudo antropológico sobre o modo de incorporação e as repercussões do implante do marcapasso na vida do indivíduo portador da doença de Chagas. Foi realizada uma pesquisa etnográfica baseada no instrumento de entrevista aberta, buscando identificar a percepção do estado de saúde de um grupo de 15 pacientes portadores de cardiopatia Chagásica crônica que necessitaram de implante de marcapasso, atendidos no Ambulatório de Marcapasso do Hospital das Clínicas da Universidade Federal de Minas Gerais, em Belo Horizonte, Minas Gerais, Brasil. Utilizou-se o referencial da qualidade de vida para observar os recursos culturais, físicos e psicológicos que os pacientes utilizam para enfrentar, explicar e aceitar o processo de adoecimento, incluindo as representações mentais que constroem o sentido cultural da doença e definem as relações sociais. O estudo pretende contribuir para que os profissionais de saúde atendam seus pacientes em sua integralidade. A orientação decodificada e integrada no âmbito cultural assume um papel importante para evitar que a desinformação perpetue a difusão de mitos populares, que, por vezes, se tornam preconceitos e elementos sociais ativos de estigma do indivíduo portador de cardiopatia.This anthropological study aimed to evaluate the incorporation of pacemakers into the lives of individuals with Chagas disease. An ethnographic methodology was used, based on an open interview focusing on the personal perceptions of 15 patients with chronic Chagas cardiopathy who had required pacemaker implants at the Federal University Hospital in Belo Horizonte, Minas Gerais State, Brazil. As part of a broader quality of life analysis, the study investigated the cultural, physical, and psychological resources used by patients to confront, explain, and accept the disease process, including mental representations on the cultural perception of the illness and definition of social relations. The study was intended to

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 ...

Complex orthopaedic management of patients with skeletal dysplasias

Directory of Open Access Journals (Sweden)

A. G. Baindurashvili

2014-01-01

Full Text Available Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, metaphyseal dysplasia, spondylometaphyseal dysplasia, Stickler syndrome, Kniest dysplasia, and anauxetic dysplasia. Complex treatment, which included axial correction and juxta-articular realignment, was performed as a single-stage, or consecutive surgery. Surgical techniques included corrective osteotomies with internal fixation, guided growth technique and external fixation devices. Best results (full axial correction, normal alignment of the joint were achieved in 8 patients, including 2 patients with metaphyseal dysplasia, 2 patients with multiple epyphyseal dysplasia, 2 patients with spondyloepyphyseal dysplasia, patient with Stickler syndrome and patient with spondylometaphyseal dysplasia. Good results (partial correction at the present time were seen in 4 patients (2 patients with Kniest dysplasia, 1 - with multiple epyphyseal dysplasia and 1 - with anauxetic dysplasia. Satisfactory results (non-progressive condition in previous progression were obtained in 2 patients with diastrophic dysplasia, and poor results (progression of the deformity - in 1 patient with diastrophic dysplasia. Positive results in most of the cases of our series make promising future for usage of complex approach for orthopedic management of children with skeletal dysplasias; advanced international cooperation is productive and helpful for diagnostics and management of rare diseases.

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 ...

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.

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...

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...

Cirurgia valvar mitral e da comunicação interatrial: abordagem minimamente invasiva ou por esternotomia Mitral valve and atrial septal defect surgery: minimally invasive or sternotomy approach

Directory of Open Access Journals (Sweden)

Josué V. Castro Neto

2012-08-01

Full Text Available FUNDAMENTO: Para diminuir o trauma cirúrgico em procedimentos cardiovasculares, técnicas Minimamente Invasivas (MI foram alternativamente introduzidas. OBJETIVO: Comparar o acesso cirúrgico MI com a Esternotomia Mediana (EM para tratar a cardiopatia valvar mitral (VM e a Comunicação Interatrial (CIA. MÉTODOS: Estudo prospectivo onde quarenta pacientes foram submetidos a cirurgia para correção de cardiopatia VM ou CIA. Foram divididos em: grupo A (GA (n = 20, de acesso por minitoracotomia direita com videoassistência, e grupo B (GB (n = 20, de acesso por EM. Comparamos: tempo de pinçamento aórtico e circulação extracorpórea, tempo de permanência na Unidade de Terapia Intensiva (UTI, tempo de hospitalização e morbidade. RESULTADOS: Quinze pacientes foram submetidos a procedimento VM e 5 a correção de CIA, em cada grupo. Houve nove trocas mitrais (sete bioprotéticas e duas mecânicas e seis reconstruções no GA, e 10 trocas (todas bioprotéticas e cinco reconstruções no GB. As médias de tempo de pinçamento aórtico e circulação extracorpórea, em minutos, foram 65,1 ± 29,3 no GA, e 50,2 ± 21,4 no GB (p = 0,074; e 91,8 ± 35 no GA, e 63,7 ± 27,3 no GB (p = 0,008. As médias de tempo de UTI, em horas, foram 51,7 ± 16,3 no GA, e 55,8 ± 17,5 no GB (p = 0,45. Os tempos de hospitalização, em dias, foram 5,2 ± 1 no GA, e 6,4 ± 1,5 no GB (p = 0,009. CONCLUSÃO: O acesso MI para correção da cardiopatia VM e da CIA implicaram em maior tempo de circulação extracorpórea para a finalização do procedimento principal sem, no entanto, afetar a recuperação do paciente. Os pacientes tratados de forma MI tiveram alta hospitalar mais cedo que os pacientes tratados com esternotomia.BACKGROUND: To decrease the surgical trauma in heart procedures, minimally invasive (MI techniques were alternatively introduced. OBJECTIVE: To compare MI surgical access with median sternotomy (MS for the treatment of mitral valve (MV disease and

Running casing on conventional wells with Casing Drilling {sup TM} technology

Energy Technology Data Exchange (ETDEWEB)

Warren, T.M.; Schneider, W.P.; Johns, R.P.; Zipse, K.D. [Tesco Corp., Calgary, AB (Canada)

2004-07-01

Casing Drilling{sup TM} is a newly developed and efficient well construction method that combines drilling and casing running processes into a single operation. This radical change to the entire well casing running process eliminates standard components and processes that are inefficient and hazardous. The commercialization of this new technology has resulted in the development of custom equipment and procedures designed to efficiently handle casings on a drilling rig, including conventionally drilled wells. The technology offers safer casing running operations and makes it possible to ream casing to the bottom. In addition, less people are needed to operate the portable Casing Drive System (CDS). One of the primary components of the system is the top drive which provides the power for rotation and torque. The CDS supports full axial and torsional load for running the casing. The well can be circulated while running the casing. The casing can be washed and reamed to the bottom whenever a tight hole is encountered. Thirty one operators have successfully used the CDS on more than 150 onshore and offshore wells in 7 countries. 13 refs., 2 tabs., 12 figs.

Comparison of Emergency Medicine Malpractice Cases Involving Residents to Non-Resident Cases.

Science.gov (United States)

Gurley, Kiersten L; Grossman, Shamai A; Janes, Margaret; Yu-Moe, C Winnie; Song, Ellen; Tibbles, Carrie D; Shapiro, Nathan I; Rosen, Carlo L

2018-04-17

Data are lacking on how emergency medicine (EM) malpractice cases with resident involvement differs from cases that do not name a resident. To compare malpractice case characteristics in cases where a resident is involved (resident case) to cases that do not involve a resident (non-resident case) and to determine factors that contribute to malpractice cases utilizing EM as a model for malpractice claims across other medical specialties. We used data from the Controlled Risk Insurance Company (CRICO) Strategies' division Comparative Benchmarking System (CBS) to analyze open and closed EM cases asserted from 2009-2013. The CBS database is a national repository that contains professional liability data on > 400 hospitals and > 165,000 physicians, representing over 30% of all malpractice cases in the U.S (> 350,000 claims). We compared cases naming residents (either alone or in combination with an attending) to those that did not involve a resident (non-resident cohort). We reported the case statistics, allegation categories, severity scores, procedural data, final diagnoses and contributing factors. Fisher's exact test or t-test was used for comparisons (alpha set at 0.05). Eight hundred and forty-five EM cases were identified of which 732 (87%) did not name a resident (non-resident cases), while 113 (13%) included a resident (resident cases) (Figure 1). There were higher total incurred losses for non-resident cases (Table 1). The most frequent allegation categories in both cohorts were "Failure or Delay in Diagnosis/Misdiagnosis" and "Medical Treatment" (non-surgical procedures or treatment regimens i.e. central line placement). Allegation categories of Safety and Security, Patient Monitoring, Hospital Policy and Procedure and Breach of Confidentiality were found in the non-resident cases. Resident cases incurred lower payments on average ($51,163 vs. $156,212 per case). Sixty six percent (75) of resident vs 57% (415) of non-resident cases were high severity claims

New Described Dermatological Disorders

Directory of Open Access Journals (Sweden)

Müzeyyen Gönül

2014-01-01

Full Text Available Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are “circumferential skin creases Kunze type” and “unusual type of pachyonychia congenita or a new syndrome”; autoinflammatory diseases include “chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome,” “pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH syndrome,” and “pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH syndrome”; tumors include “acquired reactive digital fibroma,” “onychocytic matricoma and onychocytic carcinoma,” “infundibulocystic nail bed squamous cell carcinoma,” and “acral histiocytic nodules”; unclassified disorders include “saurian papulosis,” “symmetrical acrokeratoderma,” “confetti-like macular atrophy,” and “skin spicules,” “erythema papulosa semicircularis recidivans.”

Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

Science.gov (United States)

Babushok, Daria V; Bessler, Monica

2015-03-01

Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased risk of acute myeloid leukemia (AML). While sporadic MDS is primarily a disease of the elderly, MDS in children and young and middle-aged adults is frequently associated with underlying genetic predisposition syndromes. In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in GATA2, RUNX1, CEBPA, and SRP72 genes. Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/AML syndromes which may be encountered in adult patients with MDS. Copyright © 2014 Elsevier Ltd. All rights reserved.

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

Science.gov (United States)

Fedick, A M; Shi, L; Jalas, C; Treff, N R; Ekstein, J; Kornreich, R; Edelmann, L; Mehta, L; Savage, S A

2015-08-01

Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC. Germline mutations in the RTEL1 gene have recently been identified as causative of HH. In this study, the carrier frequency for five RTEL1 mutations that occurred in individuals of Ashkenazi Jewish descent was investigated in order to advise on including them in existing clinical mutation panels for this population. Our screening showed that the carrier frequency for c.3791G>A (p.R1264H) was higher than expected, 1% in the Ashkenazi Orthodox and 0.45% in the general Ashkenazi Jewish population. Haplotype analyses suggested the presence of a common founder. We recommend that the c.3791G>A RTEL1 mutation be considered for inclusion in carrier screening panels in the Ashkenazi population. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Duplo arco aórtico: a quebra do silêncio Double aortic arch: the break of silence

Directory of Open Access Journals (Sweden)

Ana Rita Abrão

2011-03-01

Full Text Available Anéis vasculares representam 1-2% dos casos das cardiopatias congênitas. Relatamos um caso raro de duplo arco aórtico. Mulher, 60 anos, procurou atendimento na clínica médica apresentando 1 ano de história de disfagia, 6 meses de dispneia e 2 meses de dor torácica esporádica. Raio X de tórax revelou: hiperinsuflação pulmonar difusa, alargamento mediastinal, coração com volume e configurações normais, arco aórtico à direita e alterações degenerativas vertebrais. Tomografia computadorizada do tórax: arco aórtico duplo circundando e comprimindo a traqueia e o esôfago. Arco direito mais calibroso, emergindo dele o tronco braquiocefálico. Do arco esquerdo emergem a artéria carótida comum e a subclávia esquerda. Diagnóstico: anel vascular traqueoesofagiano decorrente do duplo arco aórtico, sendo o arco direito dominante. No presente caso, optou-se por seguimento clínico da paciente, levando-se em conta a intensidade dos sintomas apresentados.Vascular rings represent 1 to 2% of cases of congenital heart disease. We report a rare case of double aortic arch. A 60-year-old woman was admitted to the hospital presenting a one-year history of dysphagia, six months of dyspnea and two months of sporadic chest pain. Radiograph of the chest revealed diffuse pulmonary hyper inflation, widening of the mediastinum, heart of normal size and shape, a right-sized aortic arch, and degenerative changes of the thoracic spine. Computed tomography of the chest showed a double aortic arch encircling and compressing the trachea and the esophagus. The right aortic arch had a larger caliber, with brachiocephalic trunk arising from it. The left common carotid artery and the left subclavian artery arose from the left aortic arch. Diagnosis: tracheoesophageal vascular ring due to double aortic arch, with dominant right arch. In this case, we chose to follow the patient medically, taking into consideration the mildness of the symptoms.

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.

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

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 ...

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…

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...

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.

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]....

The impact of staff case manager-case management supervisor relationship on job satisfaction and retention of RN case managers.

Science.gov (United States)

Hogan, Tierney D

2005-01-01

A positive relationship between staff RN case managers and their case management supervisor significantly impacts job satisfaction and retention in case managers. Literature review supports the premise that staff need to trust their supervisor and that there is a connection between this trust and job satisfaction. Staff case managers need to have a voice at work and feel empowered, and a supervisor's leadership style can influence job satisfaction and retention in their staff.

Diseases and disorders of muscle.

Science.gov (United States)

Pearson, A M; Young, R B

1993-01-01

Muscle may suffer from a number of diseases or disorders, some being fatal to humans and animals. Their management or treatment depends on correct diagnosis. Although no single method may be used to identify all diseases, recognition depends on the following diagnostic procedures: (1) history and clinical examination, (2) blood biochemistry, (3) electromyography, (4) muscle biopsy, (5) nuclear magnetic resonance, (6) measurement of muscle cross-sectional area, (7) tests of muscle function, (8) provocation tests, and (9) studies on protein turnover. One or all of these procedures may prove helpful in diagnosis, but even then identification of the disorder may not be possible. Nevertheless, each of these procedures can provide useful information. Among the most common diseases in muscle are the muscular dystrophies, in which the newly identified muscle protein dystrophin is either absent or present at less than normal amounts in both Duchenne and Becker's muscular dystrophy. Although the identification of dystrophin represents a major breakthrough, treatment has not progressed to the experimental stage. Other major diseases of muscle include the inflammatory myopathies and neuropathies. Atrophy and hypertrophy of muscle and the relationship of aging, exercise, and fatigue all add to our understanding of the behavior of normal and abnormal muscle. Some other interesting related diseases and disorders of muscle include myasthenia gravis, muscular dysgenesis, and myclonus. Disorders of energy metabolism include those caused by abnormal glycolysis (Von Gierke's, Pompe's, Cori-Forbes, Andersen's, McArdle's, Hers', and Tauri's diseases) and by the acquired diseases of glycolysis (disorders of mitochondrial oxidation). Still other diseases associated with abnormal energy metabolism include lipid-related disorders (carnitine and carnitine palmitoyl-transferase deficiencies) and myotonic syndromes (myotonia congenita, paramyotonia congenita, hypokalemic and hyperkalemic

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.

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.

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.

Case-positive versus case-negative designs for low-rate lithium thionyl chloride cells

Science.gov (United States)

Mahy, T. X.

1982-03-01

Case polarity design choices are discussed. Two examples of case-negative designs are presented. One battery is thionyl chloride limited and the other is lithium limited. The case-positive design is thionyl chloride limited. It is found that the case-positive/case-negative design consideration does not seem to have much bearing on storage. However, during low rate discharge, the case-negative cells show a steadily decreasing capacity as you go to lower and lower rates.

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.

40 CFR 63.53 - Application content for case-by-case MACT determinations.

Science.gov (United States)

2010-07-01

... consistent with § 63.52(f). The owner or operator may recommend a specific design, equipment, work practice... 40 Protection of Environment 9 2010-07-01 2010-07-01 false Application content for case-by-case... Act Sections, Sections 112(g) and 112(j) § 63.53 Application content for case-by-case MACT...

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 ...

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.

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

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

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

Codification of Some Usage Cases of Lithuanian Language Cases and Prepositions

Directory of Open Access Journals (Sweden)

Vidas Valskys

2013-12-01

Full Text Available The present article is related to analysing several cases of the relationship between usage of cases and prepositions with the norms indicated in the syntax booklet “Language Advice”. The article is a discussion regarding some normative evaluation aspects regarding the usage of the preposition “greta” (next to having the meaning of exception (exclusion, usage of the adjectivised instrumental case in constructions with the verb “(pavirsti” (to turn, to become, to grow, to get and some cases of the postposition “dėka” (with the help of. Utmost attention is paid to discussion of (nonnormative evaluation of some constructions including usage of the said cases and prepositions that are doubtful in some aspects, their presentation in normative sources and further prospects related to further codification of the said cases. The article is based on vast empirical materials: examples from the “Corpus of the Contemporary Lithuanian”, the Internet and other texts related to contemporary usage.

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.

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

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.

Contemplating case mix: A primer on case mix classification and management.

Science.gov (United States)

Costa, Andrew P; Poss, Jeffery W; McKillop, Ian

2015-01-01

Case mix classifications are the frameworks that underlie many healthcare funding schemes, including the so-called activity-based funding. Now more than ever, Canadian healthcare administrators are evaluating case mix-based funding and deciphering how they will influence their organization. Case mix is a topic fraught with technical jargon and largely relegated to government agencies or private industries. This article provides an abridged review of case mix classification as well as its implications for management in healthcare. © 2015 The Canadian College of Health Leaders.

Impact of lens case hygiene guidelines on contact lens case contamination.

Science.gov (United States)

Wu, Yvonne T; Teng, Yuu Juan; Nicholas, Mary; Harmis, Najat; Zhu, Hua; Willcox, Mark D P; Stapleton, Fiona

2011-10-01

Lens case contamination is a risk factor for microbial keratitis. The effectiveness of manufacturers' lens case cleaning guidelines in limiting microbial contamination has not been evaluated in vivo. This study compared the effectiveness of manufacturers' guidelines and an alternative cleaning regimen. A randomized cross-over clinical trial with two phases (n = 40) was performed. Participants used the lens types of their choice in conjunction with the provided multipurpose solution (containing polyhexamethylene biguanide) for daily wear. In the manufacturers' guideline phase, cases were rinsed with multipurpose solution and air dried. In the alternative regimen phase, cases were rubbed, rinsed with solution, tissue wiped, and air-dried face down. The duration of each phase was 1 month. Lens cases were collected at the end of each phase for microbiological investigation. The levels of microbial contamination were compared, and compliance to both regimens was assessed. The case contamination rate was 82% (32/39) in the manufacturers' guideline group, compared with 72% (28/39) in the alternative regimen group. There were significantly fewer (p = 0.004) colony forming units (CFU) of bacteria from cases used by following the alternative regimen (CFU range of 0 to 10, and median of 12 CFU per well) compared with that of the manufacturer's guidelines (CFU range of 0 to 10, and median of 28 CFU per well). The compliance level between both guidelines was not significantly different (p > 0.05). The alternative guidelines are more effective in eliminating microbial contamination from lens cases than that of the current manufacturer's guideline. Simply incorporating rubbing and tissue-wiping steps in daily case hygiene reduces viable organism contamination.

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.

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.

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.

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.

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.

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 ...

[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.

No case for Case in locality: Case does not help interpretation when intervention blocks A-bar chains

Directory of Open Access Journals (Sweden)

Naama Friedmann

2017-04-01

Full Text Available We discuss a robust yet at first sight surprising fact: individuals who have problems understanding sentences with object A-bar movement cannot use overt Case marking of the object to interpret these sentences and to associate the DPs with thematic roles. We tested the effect of overt Case marking of the object in typically developing Hebrew-speaking children by comparing their comprehension of 'which 'object questions with and without the object Case marker 'et', and found that there was no difference in comprehension between the two. A similar pattern was found in an adolescent with syntactic SLI. We then tested the comprehension of object topicalized structures in the order OVS, where the only element identifying these sentences as object-first sentences and distinguishing them from simple SVO sentences was the object marker. We tested this in three populations with object A-bar movement problems: individuals with agrammatism, adolescents with syntactic SLI, and orally-trained children with hearing impairment, as well as in analysis of previous data on typically-developing children acquiring Hebrew. All populations failed to understand the sentence, but did not consistently reverse the thematic roles of the two noun phrases. This suggests that they were sensitive to the presence of the Case marker but could not use it for interpretation. We argue that these findings immediately follow from the way intervention and locality are computed, under the featural Relativized Minimality approach. Case is not among the features triggering movement, therefore a Case difference is not taken into account in trying to build a movement chain across an intervener. As a result, the object chain cannot be built across the intervening subject in the relevant cases, and overt Case marking of the object cannot help rescue the structure. Thematic role assignment in complex movement configurations requires the building of movement chains; if chain formation fails

Case Study: Puttin' on the Ritz: How to Put Science into Cases

Science.gov (United States)

Herreid, Clyde Freeman

2017-01-01

There are multiple ways to put science into a case. 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 different ways of presenting science in case studies.

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.

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)

Case-by-Case Adjudication and the Path of the Law

OpenAIRE

Anthony Niblett

2013-01-01

This paper presents a model of judging, illustrating how case law evolves when two types of judges with different policy preferences decide cases narrowly. The model shows that case law is unlikely to reflect the midpoint of the judges' ideal points. The result challenges the conventional wisdom suggesting that balancing ideologically extreme judges will likely yield moderate laws. The model suggests that a centrist executive faced with a sitting extreme left-wing judge should appoint a moder...

Teaching Business French through Case Studies: Presentation of a Marketing Case.

Science.gov (United States)

Federico, Salvatore; Moore, Catherine

The use of case studies as a means for teaching business French is discussed. The approach is advocated because of the realism of case studies, which are based on actual occurrences. Characteristics of a good case are noted: it tells a story, focuses on interest-arousing issues, is set in the past 10 years, permits empathy with the main…

Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation.

Science.gov (United States)

Reyes-Capó, Daniela; Cavuoto, Kara M; Chang, Ta C

2018-01-01

The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes. Retrospective case series. Consecutive patients with early-onset (younger than 36 months of age) glaucoma associated with cutaneous vascular malformations from 1995‒2015 were included. Seventeen eyes of 13 patients with Sturge-Weber syndrome (SW, n = 10), Klippel-Trenaunay-Weber syndrome (KTW, n = 1), cutis marmorata telangiectatica congenita (CMTC, n = 1), and phakomatosis pigmentovascularis (PPV, n = 1) were included. Three SW and 1 KTW patient had bilateral glaucoma. At presentation, mean age was 6.5 ± 9.1 months and mean intraocular pressure was 27.2 ± 6.13 mm Hg. The average number of surgical procedures per eye increased from 1.0 ± 0.5 (range, 0‒2) at less than 5 years' follow-up (9 eyes) to 3.5 ± 2.3 (range, 1‒7) with at least 5 years' follow-up (8 eyes). Visual acuity was better than or equal to 20/70 in 2 of 6 eyes (33%) with less than 5 years' follow-up and in 3 of 7 eyes (43%) with at least 5 years' follow-up. Additionally, a higher number of baseline risk factors correlated with poorer visual outcome. After a mean follow-up of 6.6 years, visual outcome in infantile-onset secondary glaucoma associated with cutaneous periocular vascular malformation is guarded. Increased numbers of baseline risk factors and procedures are associated with poorer vision. Copyright 2017 Asia-Pacific Academy of Ophthalmology.

Cases. Assisted suicide in The Netherlands : The Chabot Case

NARCIS (Netherlands)

Griffiths, John

1995-01-01

In earlier decisions the Dutch Supreme Court has recognised a defence of 'necessity," under narrowly-defined circumstances, to a charge of performing euthanasia.2 Its most recent decision deals with assistance with suicide in the case of a person whose suffering is not of somatic origin. The case is

Assembling a Case Study Tool Kit: 10 Tools for Teaching with Cases

Science.gov (United States)

Prud'homme-Généreux, Annie

2017-01-01

This column provides original articles on innovations in case study teaching, assessment of the method, as well as case studies with teaching notes. The author shares the strategies and tools that teachers can use to manage a case study classroom effectively.

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.

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 ...

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.

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.

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.

Case Study: A Picture Worth a Thousand Words? Making a Case for Video Case Studies

Science.gov (United States)

Pai, Aditi

2014-01-01

A picture, they say, is worth a thousand words. If a mere picture is worth a thousand words, how much more are "moving pictures" or videos worth? The author poses this not merely as a rhetorical question, but because she wishes to make a case for using videos in the traditional case study method. She recommends four main approaches of…

Medidas morfofuncionais do coração obtidas por ressonância magnética em brasileiros

Directory of Open Access Journals (Sweden)

Robson Macedo

2013-07-01

Full Text Available FUNDAMENTO: Medidas ainda hoje utilizadas como referência na ressonância magnética cardíaca foram obtidas principalmente de estudos realizados em populações norte-americanas e europeias. OBJETIVO: Obter medidas do diâmetro diastólico, diâmetro sistólico, volume diastólico final, volume sistólico final, fração de ejeção e massa miocárdica dos ventrículos esquerdo e direito em brasileiros. MÉTODOS: Foram submetidos à ressonância magnética cardíaca, utilizando técnica de precessão livre em estado de equilíbrio, 54 homens e 53 mulheres, com idade média de 43,4 ± 13,1 anos, assintomáticos, sem cardiopatias. RESULTADOS: As médias e os desvios padrão dos parâmetros do ventrículo esquerdo foram: diâmetro diastólico = 4,8 ± 0,5 cm; diâmetro sistólico = 3,0 ± 0,6 cm; volume diastólico final = 128,4 ± 29,6 mL; volume sistólico final = 45,2 ± 16,6 mL; fração de ejeção = 65,5 ± 6,3%; massa = 95,2 ± 30,8 g. Para o ventrículo direito, foram: diâmetro diastólico = 3,9 ± 1,3 cm; diâmetro sistólico = 2,5 ± 0,5 cm; volume diastólico final = 126,5 ± 30,7 mL; volume sistólico final = 53,6 ± 18,4 mL; fração de ejeção = 58,3 ± 8,0% e massa = 26,1 ± 6,1 g. As massas e os volumes foram significativamente maiores nos homens, exceto para o volume sistólico final do ventrículo esquerdo. A fração de ejeção do ventrículo direito foi significativamente maior nas mulheres. Houve correlação significativa e inversa do volume sistólico do volume direito com o aumento da idade. CONCLUSÃO: Este estudo descreveu, pela primeira vez, medidas cardíacas obtidas pela ressonância magnética cardíaca em brasileiros assintomáticos, sem cardiopatias, mostrando diferenças de acordo com o gênero e a idade.

Parâmetros ecocardiográficos em modo unidimensional de cães da raça Poodle miniatura, clinicamente sadios Echocardiographic parameters in unidimensional mode from clinically normal miniature Poodle dogs

Directory of Open Access Journals (Sweden)

Ronaldo Jun Yamato

2006-02-01

Full Text Available No Brasil, a população canina da raça Poodle, principalmente a variação miniatura, cresce em progressão geométrica, sendo esta raça freqüentemente acometida por cardiopatias congênitas e adquiridas. O escopo deste estudo foi padronizar e avaliar os parâmetros ecocardiográficos em modo unidimensional (M de cães da raça Poodle miniatura, devido ao aumento populacional da mesma, a variação existente destes parâmetros entre as raças caninas e as diversas cardiopatias às quais os Poodles são predispostos. Foram utilizados 30 cães, da referida raça, sendo 09 machos e 21 fêmeas com idades entre 2 a 7 anos (3,87±1,55 e peso corpóreo variando de 2,0 a 8,7 quilos (4,49±1,38. Os cães incluídos neste estudo foram considerados sadios, após terem sido submetidos aos exames físico, laboratoriais, eletrocardiográfico, radiográfico e à mensuração da pressão arterial. Após a realização do exame ecocardiográfico e a análise dos resultados, foi possível obter os valores de referência do exame ecocardiográfico, em modo M, para os cães da raça Poodle miniatura e, ainda, sugerir que o peso corpóreo e altura podem exercer influência sobre os parâmetros ecocardiográficos.In Brazil, the canine population of the Poodle, mainly the Miniature variation, grows in geometric progression, beeing this breed frequently affected by congenital and adquired cardiopathies. The main objective of this study was the standardization and evaluation of the echocardiographic parameters in unidimensional (M mode, from clinically normal Miniature Poodle dogs. Thirthy Miniature Poodle dogs, 09 males and 21 females ageing between 2 and 7 years old (3.87±1.55, and weight varying from 2.0 to 8.7 kilogram (4.49±1.38 were studied. To be included in this study, physical exam, hemogram, biochemical profile, urinalysis, detection of circulating microfilaries as well as ELISA test for Dirofilaria immitis, electrocardiographic, radiographic exams and

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.

Teaching Case: MiHotel--Applicant Processing System Design Case

Science.gov (United States)

Miller, Robert E.; Dunn, Paul

2018-01-01

This teaching case describes the functionality of an applicant processing system designed for a fictitious hotel chain. The system detailed in the case includes a webform where applicants complete and submit job applications. The system also includes a desktop application used by hotel managers and Human Resources to track applications and process…

Eight cases of parapharyngeal space tumor. Case reports and MRI diagnosis

Energy Technology Data Exchange (ETDEWEB)

Takagi, Setsuo; Yoshimura, Tadashi; Tanaka, Katsuhiko

1988-03-01

Between 1977 and 1987, 8 cases of parapharyngeal space tumor (2 cases of pleomorphic adenoma, and schwannoma, respectively, a case of neurofibroma, neuroblastoma, retension cyst and branchial cleft cyst) were treated in our clinic. There were 4 males and 4 females. This papar reports these cases and discusses the availability of MRI diagnosis. We consider that the x-ray CT is presently most useful for the parapharyngeal space tumor. However, MRI imaged tumor clearly without bone artifacts such as recognized in x-ray CT, and be able to take a information of tumor vascularity. So that MRI is very useful for diagnosis of parapharyngeal space tumor.

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...

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.

Nurse Case Managers' Experiences on Case Management for Long-term Hospitalization in Korea

Directory of Open Access Journals (Sweden)

Jinjoo Oh, Ph.D., RN, GNP

2017-12-01

Full Text Available Purpose: The implementation of case management for long-term hospitalization use has been approved for controlling medical cost increases in other countries. But, introduction of the case management in Korea has created issues that hinder its effective operation. This qualitative study aimed to obtain further understanding of the issues surrounding the management of Medical Aid beneficiaries' use of long-term hospitalization from the case managers' perspectives and to provide suggestions for successful case management. Methods: Thematic analysis was employed to analyze the data. Medical Aid case managers with 3 or more years of case management experience were recruited from urban, suburban, and rural regions. Data were collected through in-depth interviews: 12 nurse case managers participated in focus group interviews and 11 participated in individual one-on-one interviews. Results: Four major themes emerged: on-site obstacles that hinder work progress; going in an opposite direction; ambiguous position of case managers; and work-related emotions. Eleven subthemes were discovered: chasing potential candidates; becoming an enemy; discharging patients who have nowhere to go; welfare-centered national policies increasing medical costs; Medical Aid Program that encourages hospitalization; misuse of hospitalization; feeling limited; working without authority; fulfilling the expected role; fretting about social criticism; and feeling neglected and unprotected. Conclusion: The findings highlight the complexity and ambiguity of the issues faced by case managers. Successful management of Medical Aid resources requires the orchestrated efforts and collaboration of multiple stakeholders. More systematized support and resources for nurse case managers are essential to fully implement this nursing innovation in Korea. Keywords: case management, focus groups, hospitalization, qualitative research, vulnerable populations

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....

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

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.

Case series: Two cases of eyeball tattoos with short-term complications.

Science.gov (United States)

Duarte, Gonzalo; Cheja, Rashel; Pachón, Diana; Ramírez, Carolina; Arellanes, Lourdes

2017-04-01

To report two cases of eyeball tattoos with short-term post procedural complications. Case 1 is a 26-year-old Mexican man that developed orbital cellulitis and posterior scleritis 2 h after an eyeball tattoo. Patient responded satisfactorily to systemic antibiotic and corticosteroid treatment. Case 2 is a 17-year-old Mexican man that developed two sub-episcleral nodules in the ink injection sites immediately after the procedure. Eyeball tattoos are performed by non-ophthalmic trained personnel. There are a substantial number of short-term risks associated with this procedure. Long-term effects on the eyes and vision are still unknown, but in a worst case scenario could include loss of vision or permanent damage to the eyes.

Nurse Case Managers' Experiences on Case Management for Long-term Hospitalization in Korea.

Science.gov (United States)

Oh, Jinjoo; Oh, Seieun

2017-12-01

The implementation of case management for long-term hospitalization use has been approved for controlling medical cost increases in other countries. But, introduction of the case management in Korea has created issues that hinder its effective operation. This qualitative study aimed to obtain further understanding of the issues surrounding the management of Medical Aid beneficiaries' use of long-term hospitalization from the case managers' perspectives and to provide suggestions for successful case management. Thematic analysis was employed to analyze the data. Medical Aid case managers with 3 or more years of case management experience were recruited from urban, suburban, and rural regions. Data were collected through in-depth interviews: 12 nurse case managers participated in focus group interviews and 11 participated in individual one-on-one interviews. Four major themes emerged: on-site obstacles that hinder work progress; going in an opposite direction; ambiguous position of case managers; and work-related emotions. Eleven subthemes were discovered: chasing potential candidates; becoming an enemy; discharging patients who have nowhere to go; welfare-centered national policies increasing medical costs; Medical Aid Program that encourages hospitalization; misuse of hospitalization; feeling limited; working without authority; fulfilling the expected role; fretting about social criticism; and feeling neglected and unprotected. The findings highlight the complexity and ambiguity of the issues faced by case managers. Successful management of Medical Aid resources requires the orchestrated efforts and collaboration of multiple stakeholders. More systematized support and resources for nurse case managers are essential to fully implement this nursing innovation in Korea. Copyright © 2017. Published by Elsevier B.V.

Building theories from case study research: the progressive case study

NARCIS (Netherlands)

Steenhuis, H.J.; de Bruijn, E.J.

2006-01-01

Meredith (1998) argues for more case and field research studies in the field of operations management. Based on a literature review, we discuss several existing approaches to case studies and their characteristics. These approaches include; the Grounded Theory approach which proposes no prior

Case-Based Fault Diagnostic System

International Nuclear Information System (INIS)

Mohamed, A.H.

2014-01-01

Nowadays, case-based fault diagnostic (CBFD) systems have become important and widely applied problem solving technologies. They are based on the assumption that “similar faults have similar diagnosis”. On the other hand, CBFD systems still suffer from some limitations. Common ones of them are: (1) failure of CBFD to have the needed diagnosis for the new faults that have no similar cases in the case library. (2) Limited memorization when increasing the number of stored cases in the library. The proposed research introduces incorporating the neural network into the case based system to enable the system to diagnose all the faults. Neural networks have proved their success in the classification and diagnosis problems. The suggested system uses the neural network to diagnose the new faults (cases) that cannot be diagnosed by the traditional CBR diagnostic system. Besides, the proposed system can use the another neural network to control adding and deleting the cases in the library to manage the size of the cases in the case library. However, the suggested system has improved the performance of the case based fault diagnostic system when applied for the motor rolling bearing as a case of study

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.

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 ...

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

Science.gov (United States)

Tremolada, Sara; Delbue, Serena; Ferrante, Pasquale

2009-01-01

Riassunto Alcuni virus possono essere trasmessi verticalmente da madre a figlio in seguito allo sviluppo, da parte della madre, di un’infezione primaria, ricorrente o cronica. La trasmissione materno-fetale dei virus, che può avvenire in utero (infezione congenita), durante il travaglio del parto (infezione perinatale), oppure attraverso l’allattamento (infezione postnatale), può causare aborto spontaneo, morte fetale, ritardo di crescita intrauterino, anomalie congenite e patologie neonatali o postnatali di diversa entità. Alcuni fattori di rischio sembrano influenzare l’incidenza di trasmissione materno-fetale dei virus, come ad esempio la presenza di altre infezioni virali, la carica virale materna, il tipo di infezione (primaria o ricorrente), la durata della rottura delle membrane, la modalità con cui avviene il parto, le condizioni socio-economiche e l’allattamento. Oggi è possibile prevenire la trasmissione materno-fetale di molti virus grazie all’utilizzo di vaccini, immunizzazione passiva e farmaci antivirali. Il rischio di trasmissione delle infezioni perinatali e postnatali, inoltre, può essere diminuito evitando l’allattamento o ricorrendo ad un parto cesareo. PMID:19216201

Is case-chaos methodology an appropriate alternative to conventional case-control studies for investigating outbreaks?

Science.gov (United States)

Edelstein, Michael; Wallensten, Anders; Kühlmann-Berenzon, Sharon

2014-08-15

Case-chaos methodology is a proposed alternative to case-control studies that simulates controls by randomly reshuffling the exposures of cases. We evaluated the method using data on outbreaks in Sweden. We identified 5 case-control studies from foodborne illness outbreaks that occurred between 2005 and 2012. Using case-chaos methodology, we calculated odds ratios 1,000 times for each exposure. We used the median as the point estimate and the 2.5th and 97.5th percentiles as the confidence interval. We compared case-chaos matched odds ratios with their respective case-control odds ratios in terms of statistical significance. Using Spearman's correlation, we estimated the correlation between matched odds ratios and the proportion of cases exposed to each exposure and quantified the relationship between the 2 using a normal linear mixed model. Each case-control study identified an outbreak vehicle (odds ratios = 4.9-45). Case-chaos methodology identified the outbreak vehicle 3 out of 5 times. It identified significant associations in 22 of 113 exposures that were not associated with outcome and 5 of 18 exposures that were significantly associated with outcome. Log matched odds ratios correlated with their respective proportion of cases exposed (Spearman ρ = 0.91) and increased significantly with the proportion of cases exposed (b = 0.054). Case-chaos methodology missed the outbreak source 2 of 5 times and identified spurious associations between a number of exposures and outcome. Measures of association correlated with the proportion of cases exposed. We recommended against using case-chaos analysis during outbreak investigations. © The Author 2014. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Twelve cases of multiple myeloma in Nagasaki (especially seven atomic bombing casualty cases). [In Japanese

Energy Technology Data Exchange (ETDEWEB)

Ichimaru, M; Yasuhi, S; Ouchuru, S

1963-12-01

Since 1958, there have been 12 cases of multiple myeloma in Nagasaki, and among them were 7 cases representing atomic bombing casualties, with 3 cases being with 2 km distance from the hypocenter. The age of onset was between 51 and 69 years, and the sex ratio was 8:4, it occurring mostly in males. Symptoms were predominantly low back pain and chest pain caused by the bone changes in 8 cases. Two cases complained of general malaise and palpitation which resulted from anemia. One developed persistent epistaris, and another complained of diplopia caused by the paralysis of the oculomotor nerve. Peripheral blood in all cases showed anemia, 9 with hyperchromic and 3 with normochromic or hypochromic anemia. Low platelet counts were seen in 3 cases. All showed leukopenia. All cases showed typical ..gamma..-globulin change with a myeloma peak, and in 4 cases showed an increase of ..beta..-globulin. Bence-Jones proteinuria was present in 5 cases. Average course was 1 year 4 months. Among complications, myeloma nephrosis, aplastic anemia, and pneumonia were the most important ones.

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...

Psychotherapy trainees' multicultural case conceptualization content: thematic differences across three cases.

Science.gov (United States)

Lee, Debbiesiu L; Sheridan, Daniel J; Rosen, Adam D; Jones, Isaiah

2013-06-01

This study examined thematic differences in the multicultural case conceptualization content of 61 psychotherapy trainees across three different cases and trainee demographics (number of multicultural courses completed, years of supervised clinical practicum completed, and White trainee vs. trainee of color). Themes across cases included general counseling skills (attend to affect, build rapport, focus on specific client concerns, use of specific clinical interventions, and use of external resources not related to culture), as well as multicultural specific counseling skills (focus on culture, focus on discrimination, use of culturally competent interventions, and use of external resources related to culture). Thematic differences across case were found in three of the nine themes (affect, culture, discrimination). No systematic differences were found across multicultural training, clinical training, or race. Implications of these results are discussed.

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....

Leveraging tuberculosis case relative locations to enhance case detection and linkage to care in Swaziland.

Science.gov (United States)

Brunetti, Marie; Rajasekharan, Sathyanath; Ustero, Piluca; Ngo, Katherine; Sikhondze, Welile; Mzileni, Buli; Mandalakas, Anna; Kay, Alexander W

2018-01-01

In Swaziland, as in many high HIV/TB burden settings, there is not information available regarding the household location of TB cases for identifying areas of increased TB incidence, limiting the development of targeted interventions. Data from "Butimba", a TB REACH active case finding project, was re-analyzed to provide insight into the location of TB cases surrounding Mbabane, Swaziland. The project aimed to identify geographical areas with high TB burdens to inform active case finding efforts. Butimba implemented household contact tracing; obtaining landmark based, informal directions, to index case homes, defined here as relative locations. The relative locations were matched to census enumeration areas (known location reference areas) using the Microsoft Excel Fuzzy Lookup function. Of 403 relative locations, an enumeration area reference was detected in 388 (96%). TB cases in each census enumeration area and the active case finders in each Tinkhundla, a local governmental region, were mapped using the geographic information system, QGIS 2.16. Urban Tinkhundla predictably accounted for most cases; however, after adjusting for population, the highest density of cases was found in rural Tinkhundla. There was no correlation between the number of active case finders currently assigned to the 7 Tinkhundla surrounding Mbabane and the total number of TB cases (Spearman rho = -0.57, p  = 0.17) or the population adjusted TB cases (Spearman rho = 0.14, p  = 0.75) per Tinkhundla. Reducing TB incidence in high-burden settings demands novel analytic approaches to study TB case locations. We demonstrated the feasibility of linking relative locations to more precise geographical areas, enabling data-driven guidance for National Tuberculosis Programs' resource allocation. In collaboration with the Swazi National Tuberculosis Control Program, this analysis highlighted opportunities to better align the active case finding national strategy with the TB disease

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

CASE REPORT CASE A super 'lead pipe' colon: radio-pathological ...

African Journals Online (AJOL)

2008-10-15

Oct 15, 2008 ... cancer in UC. Clearly, correct diagnosis is crucial. Our case not only had severe findings and a diagnosis that predated her surgery, but also had no clinical, radiological or histological features of the other alternative diagnoses. The case demonstrates an unusually severe form of 'lead pipe' colon occurring ...

High laboratory cost predicted per tuberculosis case diagnosed with increased case finding without a triage strategy.

Science.gov (United States)

Dunbar, R; Naidoo, P; Beyers, N; Langley, I

2017-09-01

Cape Town, South Africa. To model the effects of increased case finding and triage strategies on laboratory costs per tuberculosis (TB) case diagnosed. We used a validated operational model and published laboratory cost data. We modelled the effect of varying the proportion with TB among presumptive cases and Xpert cartridge price reductions on cost per TB case and per additional TB case diagnosed in the Xpert-based vs. smear/culture-based algorithms. In our current scenario (18.3% with TB among presumptive cases), the proportion of cases diagnosed increased by 8.7% (16.7% vs. 15.0%), and the cost per case diagnosed increased by 142% (US$121 vs. US$50). The cost per additional case diagnosed was US$986. This would increase to US$1619 if the proportion with TB among presumptive cases was 10.6%. At 25.9-30.8% of TB prevalence among presumptive cases and a 50% reduction in Xpert cartridge price, the cost per TB case diagnosed would range from US$50 to US$59 (comparable to the US$48.77 found in routine practice with smear/culture). The operational model illustrates the effect of increased case finding on laboratory costs per TB case diagnosed. Unless triage strategies are identified, the approach will not be sustainable, even if Xpert cartridge prices are reduced.

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.

Asynchronous asymmetric form of heterogeneous osteopetrosis: initial case expanded and a new case

International Nuclear Information System (INIS)

Young, L.W.; Lachman, R.S.

2001-01-01

We have discovered additional serial radiographs and clinical information on the initial case of ''regional osteopetrosis tarda'' that has been included in several editions of Caffey's Pediatric X-Ray Diagnosis. A definite second case was found after a search of radiology teaching files of other selected medical centers and the International Skeletal Dysplasia Registry. Analysis of the sequential unusual radiographic findings of the initial case and the equivalent compelling findings of the second case justifies renewed attention to an asynchronous asymmetric form of heterogeneous osteopetrosis. (orig.)

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...

Case-control vaccine effectiveness studies: Preparation, design, and enrollment of cases and controls.

Science.gov (United States)

Verani, Jennifer R; Baqui, Abdullah H; Broome, Claire V; Cherian, Thomas; Cohen, Cheryl; Farrar, Jennifer L; Feikin, Daniel R; Groome, Michelle J; Hajjeh, Rana A; Johnson, Hope L; Madhi, Shabir A; Mulholland, Kim; O'Brien, Katherine L; Parashar, Umesh D; Patel, Manish M; Rodrigues, Laura C; Santosham, Mathuram; Scott, J Anthony; Smith, Peter G; Sommerfelt, Halvor; Tate, Jacqueline E; Victor, J Chris; Whitney, Cynthia G; Zaidi, Anita K; Zell, Elizabeth R

2017-06-05

Case-control studies are commonly used to evaluate effectiveness of licensed vaccines after deployment in public health programs. Such studies can provide policy-relevant data on vaccine performance under 'real world' conditions, contributing to the evidence base to support and sustain introduction of new vaccines. However, case-control studies do not measure the impact of vaccine introduction on disease at a population level, and are subject to bias and confounding, which may lead to inaccurate results that can misinform policy decisions. In 2012, a group of experts met to review recent experience with case-control studies evaluating the effectiveness of several vaccines; here we summarize the recommendations of that group regarding best practices for planning, design and enrollment of cases and controls. Rigorous planning and preparation should focus on understanding the study context including healthcare-seeking and vaccination practices. Case-control vaccine effectiveness studies are best carried out soon after vaccine introduction because high coverage creates strong potential for confounding. Endpoints specific to the vaccine target are preferable to non-specific clinical syndromes since the proportion of non-specific outcomes preventable through vaccination may vary over time and place, leading to potentially confusing results. Controls should be representative of the source population from which cases arise, and are generally recruited from the community or health facilities where cases are enrolled. Matching of controls to cases for potential confounding factors is commonly used, although should be reserved for a limited number of key variables believed to be linked to both vaccination and disease. Case-control vaccine effectiveness studies can provide information useful to guide policy decisions and vaccine development, however rigorous preparation and design is essential. Published by Elsevier Ltd.

[Case management process identified from experience of nurse case managers].

Science.gov (United States)

Park, Eun-Jun; Kim, Chunmi

2008-12-01

The purpose of this study was to develop a substantive theory of case management (CM) practice by investigating the experience of nurse case managers caring for Medical Aid enrollees in Korea. A total of 12 nurses were interviewed regarding their own experience in CM practice. Data were recorded and analyzed using grounded theory. Empowerment was the core category of CM for Medical Aid enrollees. The case managers engaged in five phases as follows, phase of inquiring in advance, building a relationship with the client, giving the client critical mind, facilitating positive changes in the client's use of healthcare services, and maintaining relationship bonds. These phases moved gradually and were circular if necessary. Also, they were accelerated or slowed depending on factors including clients' characteristics, case managers' competency level, families' support level, and availability of community resources. This study helps understand what CM practice is and how nurses are performing this innovative CM role. It is recommended that nurse leaders and policy makers integrate empowerment as a core category and the five critical CM phases into future CM programs.

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.

Case-Based FCTF Reasoning System

Directory of Open Access Journals (Sweden)

Jing Lu

2015-10-01

Full Text Available Case-based reasoning uses old information to infer the answer of new problems. In case-based reasoning, a reasoner firstly records the previous cases, then searches the previous case list that is similar to the current one and uses that to solve the new case. Case-based reasoning means adapting old solving solutions to new situations. This paper proposes a reasoning system based on the case-based reasoning method. To begin, we show the theoretical structure and algorithm of from coarse to fine (FCTF reasoning system, and then demonstrate that it is possible to successfully learn and reason new information. Finally, we use our system to predict practical weather conditions based on previous ones and experiments show that the prediction accuracy increases with further learning of the FCTF reasoning system.

Breast cancer case using tamoxifen during pregnancy: a case report ...

African Journals Online (AJOL)

This is a case of 32 years old nulliparous female who was diagnosed in November 2004 as a case of carcinoma of the right breast , luminal A , (Estrogen Receptor positive Progesterone receptor negative, Her 2 negative, Ki67 10 %), poorly differentiated invasive ductal cancer, TNM stage,T2 N0 MO. She had a wide local ...

Case Study: Let's Get Personal--Putting Personality into Your Cases

Science.gov (United States)

Herreid, Clyde Freeman

2017-01-01

In this case study, the subject for discussion is the need to use teaching notes in order to add personality to case studies. Personality, it is said, is more important than policy, than demographics, than finances, or amorous peccadillos. Personality is essential. It is the interaction of people that capture our interest, yet, the question is…

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.

Perfil clínico da resposta inflamatória sistêmica após cirurgia cardíaca pediátrica com circulação extracorpórea Perfil clínico de la respuesta inflamatoria sistémica tras cirugía cardiaca pediátrica con circulación extracorpórea Clinical profile of systemic inflammatory response after pediatric cardiac surgery with cardiopulmonary bypass

Directory of Open Access Journals (Sweden)

Leonardo Cavadas da Costa Soares

2010-01-01

Full Text Available FUNDAMENTO: O pós-operatório de correção de cardiopatias congênitas frequentemente é acompanhado por resposta inflamatória sistêmica. OBJETIVO: Avaliar a frequência e as manifestações clínicas da síndrome de resposta inflamatória sistêmica após circulação extracorpórea (SRIS-CEC em crianças submetidas à cirurgia cardíaca. MÉTODOS: Coorte histórico incluindo pacientes com até 3 anos de idade, submetidos à correção cirúrgica eletiva de cardiopatias congênitas com utilização de circulação extracorpórea (CEC. Foram analisados 101 pacientes por meio de critérios clínicos de disfunção de órgãos sob forma de escore, comparando-se fatores predisponentes e morbidade agregada à presença de SRIS-CEC. RESULTADOS: Foram identificados 22 pacientes (21,9% que preencheram os critérios estabelecidos para SRIS-CEC. O sexo ou tipo de cardiopatia não diferiu entre os grupos (p =NS. Pacientes com SRIS-CEC (comparados aos pacientes sem SRIS-CEC apresentavam idade média menor (6,8 ± 5,5 vs. 10,8 ± 5,1 meses, p FUNDAMENTO: El postoperatorio de corrección de cardiopatías congénitas está acompañado frecuentemente por una respuesta inflamatoria sistémica. OBJETIVO: Evaluar la frecuencia y las manifestaciones clínicas del síndrome de respuesta inflamatoria sistémica tras la circulación extracorpórea (SRIS-CEC en niños sometidos a una cirugía cardiaca. MÉTODOS: Cohorte histórica de pacientes con hasta 3 años de edad, sometidos a la corrección quirúrgica electiva de cardiopatías congénitas con utilización de circulación extracorpórea (CEC. Fueron analizados 101 pacientes mediante criterios clínicos de disfunción de órganos bajo forma de escore, comparando factores predisponentes y morbilidad agregada a la presencia de SRIS-CEC. RESULTADOS: Fueron identificados 22 pacientes (21,9% que cumplieron los criterios establecidos para el SRIS-CEC. El sexo o tipo de cardiopatía no difirió entre los grupos (p

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...

Case Study: What Makes a Good Case, Revisited: The Survey Monkey Tells All

Science.gov (United States)

Herried, Clyde Freeman; Prud'homme-Genereux, Annie; Schiller, Nancy A.; Herreid, Ky F.; Wright, Carolyn

2016-01-01

This column provides original articles on innovations in case study teaching, assessment of the method, as well as case studies with teaching notes. In this month's issue the authors provide a more definitive answer to the "What Makes a Good Case?" question based on a just-completed Survey Monkey survey given to NCCSTS teachers.

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.

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.

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.

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

Tuberculosis case-finding in Cambodia: analysis of case notification data, 2000 to 2013

Science.gov (United States)

Furphy, Valérie Burrus; Kobayashi, Miwako; Nishikiori, Nobuyuki; Eang, Mao Tan; Yadav, Rajendra-Prasad

2015-01-01

The routine tuberculosis (TB) surveillance system in Cambodia has been strengthened under the National TB Programme (NTP). This paper provides an overview of the TB surveillance data for Cambodia at the national level for the period 2000 to 2013 and at the subnational level for 2013. The proportion of the total population that were screened for TB rose from 0.4% in 2001 to 1.1% in 2013, while the smear-positivity rate decreased from 28.9% to 8.1% in the same period. The total number of notified TB cases increased steadily from 2000; this has stabilized in recent years with 39 055 cases notified in 2013. The proportion of all TB cases that were smear-positive decreased from 78% in 2000 to 36% in 2013. Case notification rates (CNRs) for all forms of TB and new smear-positive TB in 2013 were 261 and 94 per 100 000 population, respectively. Higher CNRs were found in the north-western and south-eastern parts of the country and were higher for males especially in older age groups. The increase in TB screening, decline in the smear-positive rate and decline in notified smear-positive TB cases likely reflect a long-term positive impact of the NTP. A negative correlation between the proportion of the population screened and the smear-positivity rate at the subnational level helped identify where to find undiagnosed cases. Subnational differences in case notification of the elderly and in children provide more specific targets for case-finding and further encourage strategic resource allocation. PMID:25960919

Reported cases of selected diseases.

Science.gov (United States)

1994-06-01

The number of reported cases of measles, poliomyelitis, tetanus, diphtheria, and whooping cough for the period of January 1, 1994 to the date of the last report is presented in tabular form by country with a comparison for the same epidemiological period in 1993. The countries included are Bolivia, Colombia, Ecuador, Peru, Venezuela, Argentina, Chile, Paraguay, Uruguay, Brazil, Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, Mexico, Cuba, Haiti, the Dominican Republic, Antigua and Barbuda, the Bahamas, Barbados, Dominica, Grenada, Guyana, Jamaica, Saint Kitts and Nevis, Saint Vincent, Saint Lucia, Suriname, Trinidad and Tobago, Canada, and the US. The figures for measles are given as reported and as confirmed. In some countries, the reported number of cases of measles decreased from 1993 figures (Venezuela 5275 vs. 6060, Paraguay 26 vs. 958, Brazil 272 vs. 958, Canada 30 vs. 38), but, in others, the figure increased from 1993 (Mexico 47 vs. 21, the US 155 vs. 86). There were no reported cases of poliomyelitis for either year in any country. The figures for tetanus are divided into nonneonatal and neonatal. In Brazil the number of nonneonatal cases decreased to 360 from 371 in 1993, and the number of neonatal cases decreased to 28 from 65. In Mexico, nonneonatal cases decreased to 28 from 45, but neonatal cases increased to 23 from 20 in 1993. The number of cases of diphtheria cases in Brazil decreased to 28 from 65 in the same period of 1993. The number of cases of whooping cough decreased to 431 from 1651 in Brazil and to 51 from 70 in Mexico. However, the number of cases in Canada increased to 1047 from 784.

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....

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

Case Study: A Step-by-Step Guide to Students Writing Case Studies (and Tools for Novice Case Authors)

Science.gov (United States)

Prud'homme-Genereux, Annie

2015-01-01

In experimenting with ways of structuring the assignment and providing guidance to students, the author developed a series of tools that may be of interest to instructors wishing to implement a case-writing assignment in their course. This assignment is more suited for instructors experienced in case writing, as their knowledge of how to design a…

Factors associated with low birth weight in a historical series of deliveries in Campinas, Brazil Fatores associados a baixo peso ao nascer em uma série histórica de partos em Campinas, Brazil

Directory of Open Access Journals (Sweden)

Pedro Ribeiro Coutinho

2009-01-01

Full Text Available OBJECTIVE: To identify the risk factors associated with low birth weight (37 months, maternal history of hypertension, cardiopathy and premature delivery, few (OBJETIVO: Identificar os fatores de risco associados com baixo peso (37 meses, história materna de hipertensão, cardiopatia e parto prematuro, <5 consultas de pré-natal e seu início tardiamente na gestação (após o terceiro mês, rotura prematura de membranas, aumento da pressão arterial, doenças infecciosas e hemorragias durante a atual gestação. Obesidade materna e primiparidade foram fatores de proteção. CONCLUSÃO: Estes resultados confirmam os achados de estudos prévios. A detecção e manejo ante-parto de fatores modificáveis, aconselhamento, intervenção pré-concepcional, pré-natal adequado e a implementação de prevenção primária e secundária de morbidade materna devem constituir uma preocupação para todo obstetra como potencial fonte de redução da incidência de baixo peso ao nascimento.

Prevalência de megas em necrópsias realizadas no triângulo mineiro no período de 1954 a 1988

Directory of Open Access Journals (Sweden)

Edison Reis Lopes

1989-12-01

Full Text Available Dentre 1708 necrópsias de chagásicos crônicos, de um total de 4690, diagnosticamos 273 megas. Destes o mais freqüente foi o megacólon, seguido pelo megaesôfago, ocupando a associação megacólon e megaesôfago o terceiro lugar. Discutem-se e comparam-se os achados com outros de ordem clinico-epidemiológica e anatomopatológica. Confirmando dados da literatura, nossos achados atuais mostram, que a exemplo do que sucede na cardiopatia chagásica, o megacólon e o megaesôfago predominam no sexo masculino, discutindo-se os fatores que poderiam explicar a razão desse fato.One thousand seven hundred and eight chronic chagasic post-mortem examinations studied from a total of4690 autopsies perfomed at our Institution. Two hundred and seventy-three chagasic had megas. Megacolon was the most frequent, followed by megaesophagus. Megacolon associated with megaesophagus was, the third mostcommom finding. Our data are discussed and compared with the literature. Megacolon and megaesophagus were more prevalent in man, as shown by other workers. Higher parasitemia perhaps could explain this finding.

Case frames as contextual mappings to case law in BestPortal

NARCIS (Netherlands)

Hoekstra, R.; Lodder, A.; van Harmelen, F.

2010-01-01

This paper introduces case frames as a way to provide a more meaningful structure to vocabulary mappings used to bridge the gap between laymen and legal descriptions of court proceedings. Case frames both reduce the ambiguity of queries, and improve the ability of users to formulate good quality

Patterned genital injury in cases of rape - A case-control study

DEFF Research Database (Denmark)

Astrup, Birgitte Schmidt; Ravn, Pernille; Thomsen, Jørgen Lange

2013-01-01

A pattern of genital injury that separates trauma seen in sexual assault cases from trauma seen following consensual sexual intercourse has been a matter of debate. This study aimed at clarifying the question by eliminating as many confounders as possible in a prospective, case-control setup. A t...

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)

Case management after long-term absence from work in China: a case report.

Science.gov (United States)

Tang, Dan; Yu, Ignatius Tak Sun; Luo, Xiaoyuan; Liang, Youxin; He, Yonghua

2011-03-01

Return-to-work (RTW) after occupational injuries is an important and challenging issue. Case managers are expected to play a vital role in successful RTW. In China, RTW intervention is in its early phase and requires further research and practice. This case report describes Mr. H's RTW process for illustrating the work of a case management team in China. Suggestions on developing and optimizing the process in China are given. After 9 years of absence from work due to severe burn injuries at work, Mr. H was referred for RTW interventions. Mr. H received social and occupational rehabilitation services of 3 months, and the following workplace visits and work trials. After the job placement, the case manager continued the liaison with the worker and employer. Mr. H showed positive changes in occupational and social adjustment after the case management interventions. This was reflected from the shift from the contemplation to action stage on the Lam Assessment of Stages of Employment Readiness. Despite he did not show significant changes on functional capacity and fear avoidance beliefs, Mr. H passed the job credential test and was offered a maintenance technician position at a new company. Both the worker and the employer were satisfied with the outcome of the case management. The RTW interventions carried out by the case managers appeared to be effective within the Chinese system. The results suggested that professional training of case managers, RTW-related policies and technological standards, early integrated interventions should be further developed in China. Disability Adjustment Group Therapy and RTW Support Groups perhaps are useful approaches in workers' returning to work.

Measles cases among adolescents in southern Pakistan 2012-2015: The case for revisiting vaccination strategies.

Science.gov (United States)

Shakoor, Sadia; Khan, Erum; Rajput, Muhammad Imran; Rahimoon, Wali Muhammad

2017-07-03

Surveillance of adult measles in Pakistan is a challenge as it does not enjoy the status of a reportable disease unlike childhood cases and therefore cases remain undetected and unreported or misdiagnosed. Consequently no data or estimates of young adult cases, seroprevalence, or estimates of susceptible preadolescent or young adult population exist. We have presented both laboratory conformed and clinically suspected cases of measles occurring in adolescents and adults in the southern province of Sindh in Pakistan. Through an examination of 2 independent databases, i.e. a laboratory database of measles IgM positive cases and clinically detected cases on surveillance performed by the Disease Early Warning System, we have analyzed and reported age-specific positivity rates from 2012 to 2015 in Sindh, Pakistan. High rates of laboratory confirmed measles were observed in those aged 9 y and younger. Among adolescents and adults, significantly higher positivity rates were observed among those aged 10-19 y. Clinically detected cases from Sindh showed similar distribution of cases. High burden of cases among children <9 y of age confirm that supplementary immunization activities (SIAs) among this age group are inadequate and need to be strengthened. Cases among those 10-19 y further demonstrate the need for consolidating SIAs with an additional strategy to vaccinate those who remain non-immune at college entry and in institutions where outbreaks can be prevented. Such measures are essential to achieving the goal of measles elimination in the country and region.

Casing Out Evaluation: Expanding Student Interest in Program Evaluation through Case Competitions.

Science.gov (United States)

Obrecht, Michael; Porteous, Nancy; Haddock, Blair

1998-01-01

Describes the authors' experiences in organizing bilingual evaluation case competitions for the National Capital Chapter of the Canadian Evaluation Society for three years. Competition structure, eligibility, judging, contestant recruiting, and preparing cases are outlined. (SLD)

CLINICAL AND CEPHALOMETRIC ANALYSIS OF THREE CASES WITH PYCNODYSOSTOSIS: CASE REPORTS*

Directory of Open Access Journals (Sweden)

Eser ÇAPAN

2015-01-01

Full Text Available The aim of this article is to present intra- and extra-oral and cephalometric findings of three patients with a rare disease: the pycnodysostosis. Two cases had skeletal Class III malocclusion due to maxillary retrognathia and one had bimaxillary retrusion with Class I relationship. Total circular crossbite, increased gonial angle and vertical facial proportions, deep-narrow palates and retruded upper lip were found in all cases. Maxillary expansion, face mask treatment or/and orthognathic surgery are treatment alternatives, considering the growth and development. Bone fragility and the risk of osteomyelitis after extractions should be considered in such cases before orthodontic treatment and orthognatic surgery.

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

A clear case. Selective investment in case management applications can yield significant returns.

Science.gov (United States)

Hagland, Mark

2009-03-01

Strategically conceived case management system implementation makes good patient care and business sense, CIOs agree. Significant financial savings can be achieved from case management IS implementations, if those implementations are executed in the context of partnership between clinical leaders and the CIO's team. CIOs agree that applying the concept of "investment" to the implementation of case management IT can make resource allocation decisions easier.

'Case reporting of rare adverse events in otolaryngology': can we defend the case report?

LENUS (Irish Health Repository)

Dias, Andrew

2012-01-31

The study of errors in medicine has proliferated since the publication of The Institute of Medicine Report \\'TO ERR IS HUMAN\\' in 2000. Case nuances and process of care issues are valuable areas to explore if the goal is to provide the health care worker with the knowledge to avoid future errors. Meta-analysis and randomized controlled trials provide a large data base of evidence towards improvement and opportunities, but it is suggested that case reports can still provide valuable clinical information. The aim is to use the published literature to produce a series of rare harm case reports in E.N.T. The methods include systematic literature review. Journals searched in PUBMED were 60. Rare harm case obtained from the search were 5,322. Rare harm case reports not reported in any other form of evidence-based medicine were 40. Yes, the case report can be defended as it is an important pillar of evidence-based medicine.

SARS: a comparative study on the chest radiography of the mortal cases and the cured cases

International Nuclear Information System (INIS)

Jiang Songfeng; Liu Jingxin; Chen Bihua; Zhang Lieguang; Yin Chibiao; Zhang Fuchun

2003-01-01

Objective: This study is mainly on the radiological findings of the mortal cases of SARS. Methods: The chest X-ray (CXR) findings of 11 mortal cases of SARS were retrospectively studied, and compared with those of the 249 cured cases. Results: The major CXR findings of the mortal cases were: patchy shadows in 10 cases out of 11 (90.90%), frosted glass like change of the lung fields in 9 (81.82%), diffuse lesions in 11 (100%), and involvement of the bilateral lung. There was a statistical difference between the mortal cases and the cured cases on the following 4 manifestations: large shadows, extensive consolidation, frosted glass like change of the lung fields, and diffuse lesions (P<0.01). Conclusion: Large shadows, extensive consolidation, frosted glass like change of the lung fields, diffuse lesions and the bilateral involvement of the lung are the main CXR findings of the mortal cases of SARS. And extensive consolidation and diffuse involvement are strongly indicative. In most of the mortal cases, the latest CXR demonstrated widespread frosted glass like appearance in the lung fields with air bronchogram

Non-ferromagnetic overburden casing

Science.gov (United States)

Vinegar, Harold J.; Harris, Christopher Kelvin; Mason, Stanley Leroy

2010-09-14

Systems, methods, and heaters for treating a subsurface formation are described herein. At least one system for electrically insulating an overburden portion of a heater wellbore is described. The system may include a heater wellbore located in a subsurface formation and an electrically insulating casing located in the overburden portion of the heater wellbore. The casing may include at least one non-ferromagnetic material such that ferromagnetic effects are inhibited in the casing.

"Since I have my case manager, I am back to life" case management in Croatia.

Science.gov (United States)

Gruber, Ema N; Ivezić-Strkalj, Sladana; Agius, Mark; Martić-Biocina, Sanja

2008-03-01

The authors present a case report of a patient who was treated by a case manager, a member of a Croatian Community Mental Health (CMH) Team, following the recommendations of WHO 2004 as well as the IRIS guidelines and the Basic Standards for Management of Patients with Serious Mental Illness in the Community (Agius 2005) and using the elements of Clinical case management (Muser 1998), Assertive community treatment model (Burns 1995, Scott 1995, Wolfsan 1990), the personal strength model (Rapp 1988) and Rehabilitation model (Anthony 1993). In order to emphasize the importance of the therapist-patient relationship in the treatment of chronic schizophrenic patients (Ivezic 2001) and creating the group atmosphere a Croatian model of case management is created where the patient's needs and risks are assessed by a multidisciplinary team which also conducts the recommended psychosocial interventions plan. The majority of interventions are conducted in groups. The case manager develops a confident relationship with a patient, nourishes the positive transference and aids the delivery of the treatment. The main goals of the interventions are empowerment of the patient, improvement of his abilities and decreasing of disabilities. The case manager also carries out a full assessment of the needs of the patient's family so that the family or carers are also included in the treatment or support if necessary (Gruber 2006). A case report of a patient and the work of her case manager as well as the case manager's diary (Gruber 2007) and the Croatian model of case management is presented in this article.

Nurse Case Managers' Experiences on Case Management for Long-term Hospitalization in Korea

OpenAIRE

Jinjoo Oh, Ph.D., RN, GNP; Seieun Oh, Ph.D., RN

2017-01-01

Purpose: The implementation of case management for long-term hospitalization use has been approved for controlling medical cost increases in other countries. But, introduction of the case management in Korea has created issues that hinder its effective operation. This qualitative study aimed to obtain further understanding of the issues surrounding the management of Medical Aid beneficiaries' use of long-term hospitalization from the case managers' perspectives and to provide suggestions for ...

Timeliness of Operating Room Case Planning and Time Utilization: Influence of First and To-Follow Cases

Directory of Open Access Journals (Sweden)

Konrad Meissner

2017-04-01

Full Text Available Resource and cost constraints in hospitals demand thorough planning of operating room schedules. Ideally, exact start times and durations are known in advance for each case. However, aside from the first case’s start, most factors are hard to predict. While the role of the start of the first case for optimal room utilization has been shown before, data for to-follow cases are lacking. The present study therefore aimed to analyze all elective surgery cases of a university hospital within 1 year in search of visible patterns. A total of 14,014 cases scheduled on 254 regular working days at a university hospital between September 2015 and August 2016 underwent screening. After eliminating 112 emergencies during regular working hours, 13,547 elective daytime cases were analyzed, out of which 4,346 ranked first, 3,723 second, and 5,478 third or higher in the daily schedule. Also, 36% of cases changed start times from the day before to 7:00 a.m., with half of these (52% resulting in a delay of more than 15 min. After 7:00 a.m., 87% of cases started more than 10 min off schedule, with 26% being early and 74% late. Timeliness was 15 ± 72 min (mean ± SD for first, 21 ± 84 min for second, and 25 ± 93 min for all to-follow cases, compared to preoperative day planning, and 21 ± 45, 23 ± 61, and 19 ± 74 min compared to 7:00 a.m. status. Start time deviations were also related to procedure duration, with cases of 61–90 min duration being most reliable (deviation 9.8 ± 67 min compared to 7:00 a.m., regardless of order. In consequence, cases following after 61–90 min long cases had the shortest deviations of incision time from schedule (16 ± 66 min. Taken together, start times for elective surgery cases deviate substantially from schedule, with first and second cases falling into the highest mean deviation category. Second cases had the largest deviations from scheduled times compared to

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.

An unusual case of neonatal mastocytoma: A case report

Directory of Open Access Journals (Sweden)

Guglielmo Pranteda

2017-08-01

Full Text Available Mastocytosis is a group of disorders characterized by the accumulation of mast cells in various tissues. In this article we report an interesting case of cutaneous mastocytoma in a 3-month-old infant. We describe two episodes characterized by an exacerbation of the skin lesion with the typical Darier’s sign. Both of them occurred after breastfeeding. In both episodes, the mother had eaten shrimps before the breastfeeding. This peculiar case, difficult to understand regarding its pathogenesis, was successful resolved just with dietary prescription given to the breast feeding mother.

Making a case for case studies in psychotherapy training

DEFF Research Database (Denmark)

Mackrill, Thomas Edward; Iwakabe, Shigeru

2013-01-01

articulated explicitly or researched systematically in spite of its cardinal importance. An analysis of the role of case studies in psychotherapy training is presented. Reading, watching, or hearing about cases can offer novice psychotherapists access to a closed world; access to psychological theory...... in action; access to whole courses of therapy; access to different approaches; access to significant moments; access to the therapeutic relationship; access to a wide range of client types; access to working in different contexts; and the opportunity of identifying with therapists and clients. Writing...

Case Report: A Unique Case Of Cystic Echinococcosis in a Sahiwal ...

African Journals Online (AJOL)

Case Report: A Unique Case Of Cystic Echinococcosis in a Sahiwal Cow in Narok County, Kenya. JA Omega, PK Koskei. Abstract. A three and a half year old pregnant Sahiwal cow born and reared just outside the Maasai Mara National Game Reserve in Narok County, Kenya was noticed to walk slowly, cough occasionally ...

[Rectal duplication cyst--case report].

Science.gov (United States)

Turyna, R; Horák, L; Kucera, E; Hejda, V; Krofta, L; Feyereisl, J

2009-06-01

The authors demonstrate a rare case of duplication anomaly of the rectum. Case report. Institute for the Care of Mother and Child, Prague. We present a rare case of cystic rectal duplication in adult, completely removed and histologically confirmed. A literature review was summarized. The case was complicated by delay in diagnosis, multiple operations, and by the association with endometriosis, as well. Mentioned anomaly is published in the Czech literature for the very first time.

Differences in the clinical-epidemiological profile between new cases of tuberculosis and retreatment cases after default

Directory of Open Access Journals (Sweden)

Aylana de Souza Belchior

Full Text Available Abstract OBJECTIVE To identify the socioeconomic and clinical-epidemiological factors related to tuberculosis in new cases and retreatment cases. METHOD Comparative study with 126 patients, of which 42 were retreatment cases after default attended in a reference center, and 84 were new cases completing the first treatment and treated in Basic Health Units. The collection of primary data was through interview, and of secondary data by records of the Notifiable Diseases Information System. Comparative analysis between the two groups. RESULTS The new cases differ from retreatment cases regarding educational level. The clinical-epidemiological profile shows a significant difference in relation to performance of the tuberculin skin test, and the HIV test result (positive in favor of new cases. In relation to performance of sputum culture and the result (positive of the first sputum smear of the first and second samples, in favor of retreatment cases. CONCLUSION The two groups are significantly different in clinical and epidemiological characteristics that show the access to exams.

Preliminary energy demand studies for Ireland: base case and high case for 1980, 1985 and 1990

Energy Technology Data Exchange (ETDEWEB)

Henry, E W

1981-01-01

The framework of the Base Case and the High Case for 1990 for Ireland, related to the demand modules of the medium-term European Communities (EC) Energy Model, is described. The modules are: Multi-national Macre-economic Module (EURECA); National Input-Output Model (EXPLOR); and National Energy Demand Model (EDM). The final results of the EXPLOR and EDM are described; one set related to the Base Case and the other related to the High Case. The forecast or projection is termed Base Case because oil prices are assumed to increase with general price inflation, at the same rate. The other forecast is termed High Case because oil prices are assumed to increase at 5% per year more rapidly than general price inflation. The EXPLOR-EDM methodology is described. The lack of data on energy price elasticities for Ireland is noted. A comparison of the Base Case with the High Case is made. (MCW)

Case Managers on the Front Lines of Ethical Dilemmas: Advocacy, Autonomy, and Preventing Case Manager Burnout.

Science.gov (United States)

Sortedahl, Charlotte; Mottern, Nina; Campagna, Vivian

The purpose of this article is to examine how case managers are routinely confronted by ethical dilemmas within a fragmented health care system and given the reality of financial pressures that influence life-changing decisions. The Code of Professional Conduct for Case Managers (Code), published by the Commission for Case Manager Certification, acknowledges "case managers may often confront ethical dilemmas" (Code 1996, Rev. 2015). The Code and expectations that professional case managers, particularly those who are board certified, will uphold ethical and legal practice apply to case managers in every practice setting across the full continuum of health care. This discussion acknowledges the ethical dilemmas that case managers routinely confront, which empowers them to seek support, guidance, and resources to support ethical practice. In addition, the article seeks to raise awareness of the effects of burnout and moral distress on case managers and others with whom they work closely on interdisciplinary teams.

Describing Case Study Method and Identifying the Factors that Contribute to the Successful Conduct of Case Studies

OpenAIRE

Ahmad H. Juma'h; Mustafa Cavus

2001-01-01

This article has attempted to describe case study, the limitations and critiques on case study methodology and how the proponents have responded to these. Our special focus have been on the debate on theory building from case study research, and a framework for conducting case study research as well as the factors for a successful case study research. The overall conclusion is that the case study has been inappropriately used to generate theories.

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.

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 ...

Case-control studies in neurosurgery.

Science.gov (United States)

Nesvick, Cody L; Thompson, Clinton J; Boop, Frederick A; Klimo, Paul

2014-08-01

Observational studies, such as cohort and case-control studies, are valuable instruments in evidence-based medicine. Case-control studies, in particular, are becoming increasingly popular in the neurosurgical literature due to their low cost and relative ease of execution; however, no one has yet systematically assessed these types of studies for quality in methodology and reporting. The authors performed a literature search using PubMed/MEDLINE to identify all studies that explicitly identified themselves as "case-control" and were published in the JNS Publishing Group journals (Journal of Neurosurgery, Journal of Neurosurgery: Pediatrics, Journal of Neurosurgery: Spine, and Neurosurgical Focus) or Neurosurgery. Each paper was evaluated for 22 descriptive variables and then categorized as having either met or missed the basic definition of a case-control study. All studies that evaluated risk factors for a well-defined outcome were considered true case-control studies. The authors sought to identify key features or phrases that were or were not predictive of a true case-control study. Those papers that satisfied the definition were further evaluated using the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist. The search detected 67 papers that met the inclusion criteria, of which 32 (48%) represented true case-control studies. The frequency of true case-control studies has not changed with time. Use of odds ratios (ORs) and logistic regression (LR) analysis were strong positive predictors of true case-control studies (for odds ratios, OR 15.33 and 95% CI 4.52-51.97; for logistic regression analysis, OR 8.77 and 95% CI 2.69-28.56). Conversely, negative predictors included focus on a procedure/intervention (OR 0.35, 95% CI 0.13-0.998) and use of the word "outcome" in the Results section (OR 0.23, 95% CI 0.082-0.65). After exclusion of nested case-control studies, the negative correlation between focus on a procedure

Case-control studies in diabetes. Do they really use a case-control design?

Science.gov (United States)

Ramos, Analía; Mendoza, Lilian Cristina; Rabasa, Fernanda; Bolíbar, Ignasi; Puig, Teresa; Corcoy, Rosa

2017-07-01

Studies defined as case-control do not always use this design. We aimed to estimate the frequency of mislabelled case-control studies in published articles in the area of diabetes and to identify the predictors of incorrect labelling. We searched Medline and Web of Science for articles with "diabetes" and "case control" in title and filtered for language (English/Romance) and period (January 2010-December 2014). Inclusion criteria were: (1) statement to use a case-control design in title, (2) to be a final full-length publication and (3) to have original data in the area of diabetes. Three independent reviewers went through titles, looked for full texts and reviewed them. Discrepancies were settled with a fourth reviewer. Expert epidemiologist advice was requested in case of doubt. case-control mislabelling; addressed predictors: publication year, journal impact factor and journal subject. proportion of mislabelled CC articles and assessment of predictors by multivariate logistic regression analysis. We retrieved 362 articles, 251 of them fulfilling inclusion criteria. The proportion of mislabelled CC studies was 43.8% (confidence interval 95% 37.7-50.0%). Most mislabelled studies had a cross-sectional design (82.7%). Predictors of mislabelling were publication year, journal impact factor and journal area. A relevant subset of studies defined as case-control in the area of diabetes correspond to mislabelled cross-sectional studies. Incorrect labelling misleads readers regarding the interpretation of results and the cause-effect hypothesis. Researchers, reviewers and editors should be aware of and commit to settle this issue.

Case Reports, Case Series - From Clinical Practice to Evidence-Based Medicine in Graduate Medical Education.

Science.gov (United States)

Sayre, Jerry W; Toklu, Hale Z; Ye, Fan; Mazza, Joseph; Yale, Steven

2017-08-07

Case reports and case series or case study research are descriptive studies that are prepared for illustrating novel, unusual, or atypical features identified in patients in medical practice, and they potentially generate new research questions. They are empirical inquiries or investigations of a patient or a group of patients in a natural, real-world clinical setting. Case study research is a method that focuses on the contextual analysis of a number of events or conditions and their relationships. There is disagreement among physicians on the value of case studies in the medical literature, particularly for educators focused on teaching evidence-based medicine (EBM) for student learners in graduate medical education. Despite their limitations, case study research is a beneficial tool and learning experience in graduate medical education and among novice researchers. The preparation and presentation of case studies can help students and graduate medical education programs evaluate and apply the six American College of Graduate Medical Education (ACGME) competencies in the areas of medical knowledge, patient care, practice-based learning, professionalism, systems-based practice, and communication. A goal in graduate medical education should be to assist residents to expand their critical thinking, problem-solving, and decision-making skills. These attributes are required in the teaching and practice of EBM. In this aspect, case studies provide a platform for developing clinical skills and problem-based learning methods. Hence, graduate medical education programs should encourage, assist, and support residents in the publication of clinical case studies; and clinical teachers should encourage graduate students to publish case reports during their graduate medical education.

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.

Five Misunderstandings About Case-Study Research

DEFF Research Database (Denmark)

Flyvbjerg, Bent

2006-01-01

This article examines five common misunderstandings about case-study research: (a) theoretical knowledge is more valuable than practical knowledge; (b) one cannot generalize from a single case, therefore, the single-case study cannot contribute to scientific development; (c) the case study is most...... useful for generating hypotheses, whereas other methods are more suitable for hypotheses testing and theory building; (d) the case study contains a bias toward verification; and (e) it is often difficult to summarize specific case studies. This article explains and corrects these misunderstandings one...

Retrospective evaluation of childhood alopecia areata cases

Directory of Open Access Journals (Sweden)

Munise Daye

2013-09-01

Full Text Available Background and design: Approximately 20% of alopecia areata (AA cases are children. There is limited information about childhood AA.We aimed to examine demographic features,treatments and diseases prognosis of child cases of AA that were followed in our clinic. Material and methods: Datas of 110 AA patients who are 16 and under 16 years old were examined retrospectively.The age,gender,disease onset age,duration of disease,types of AA and onset area,nail involvement, accompanying systemic and dermatological diseases,laboratory tests,treatments and the prognosis were evaluated in their follow-up time.Results: Female cases were 46,4%, male cases were 53,6%.The mean age was 10,35 years.The age of disease onset was 8,65 years.Primary onset areas of AA cases were scalp in 83,6%, eyebrows in 5,4%, body hair in 5,4%, eyelashes in 2,7%, eyebrows and eyelashes in 2,7%.Types of disease were AA in 73,4% cases,alopecia totalis in 19% cases, alopecia universalis in 5,4% cases,ophiaisis in 1,8% cases.Nail involvement was established in 36,3% cases. Nevus flammeus was established in 2,7% cases.Mean disease duration was 17,02 months.Accompaying dermatosis were vitiligo in 2,7% cases,atopic dermatitis in 6,3% cases. The accompaying systemic diseases were autoimmune thyroiditis in 1,8% cases and Down's Syndrome in 2,7% cases.Thyroid autoantibodies were high in 0,9% cases.We have treated 24,5% of cases with topical corticosteroid lotion, 30,9% of cases with anthralin, 0,9%of cases with 2% minoxidil lotion, 0,9% of cases with calcipotriol lotion, 1,8% of cases with topical calcineurin inhibitors, 10% of cases with intralesional corticosteroids.We have treated 15,4% of cases with systemic corticosteroids and PUVA therapy who were resistant to topical treatment.We have treated 14,5% of cases with different combinations of topical treatments.Remission was observed in 34,5% of cases.The mean remission duration was 12.2 months.Relapse was observed at a average of two

Case Study: Mini-Case Studies: Small Infusions of Active Learning for Large-Lecture Courses

Science.gov (United States)

Carloye, Lisa

2017-01-01

In this article, the author introduces the usage of case studies to be an excellent method for engaging students through stories. The author notes she developed a series of mini-case studies that can be implemented, with a little advance preparation, within a 10- to 15-minute window during lecture. What makes them "mini" case studies?…

Case-based ethics instruction: the influence of contextual and individual factors in case content on ethical decision-making.

Science.gov (United States)

Bagdasarov, Zhanna; Thiel, Chase E; Johnson, James F; Connelly, Shane; Harkrider, Lauren N; Devenport, Lynn D; Mumford, Michael D

2013-09-01

Cases have been employed across multiple disciplines, including ethics education, as effective pedagogical tools. However, the benefit of case-based learning in the ethics domain varies across cases, suggesting that not all cases are equal in terms of pedagogical value. Indeed, case content appears to influence the extent to which cases promote learning and transfer. Consistent with this argument, the current study explored the influences of contextual and personal factors embedded in case content on ethical decision-making. Cases were manipulated to include a clear description of the social context and the goals of the characters involved. Results indicated that social context, specifically the description of an autonomy-supportive environment, facilitated execution of sense making processes and resulted in greater decision ethicality. Implications for designing optimal cases and case-based training programs are discussed.

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...

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.

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.

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

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.)

Comparing colon cancer outcomes: The impact of low hospital case volume and case-mix adjustment.

Science.gov (United States)

Fischer, C; Lingsma, H F; van Leersum, N; Tollenaar, R A E M; Wouters, M W; Steyerberg, E W

2015-08-01

When comparing performance across hospitals it is essential to consider the noise caused by low hospital case volume and to perform adequate case-mix adjustment. We aimed to quantify the role of noise and case-mix adjustment on standardized postoperative mortality and anastomotic leakage (AL) rates. We studied 13,120 patients who underwent colon cancer resection in 85 Dutch hospitals. We addressed differences between hospitals in postoperative mortality and AL, using fixed (ignoring noise) and random effects (incorporating noise) logistic regression models with general and additional, disease specific, case-mix adjustment. Adding disease specific variables improved the performance of the case-mix adjustment models for postoperative mortality (c-statistic increased from 0.77 to 0.81). The overall variation in standardized mortality ratios was similar, but some individual hospitals changed considerably. For the standardized AL rates the performance of the adjustment models was poor (c-statistic 0.59 and 0.60) and overall variation was small. Most of the observed variation between hospitals was actually noise. Noise had a larger effect on hospital performance than extended case-mix adjustment, although some individual hospital outcome rates were affected by more detailed case-mix adjustment. To compare outcomes between hospitals it is crucial to consider noise due to low hospital case volume with a random effects model. Copyright © 2015 Elsevier Ltd. All rights reserved.

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

Rare case of transverse testicular ectopia - Case report and review of literature.

Science.gov (United States)

Raj, Vinod; Redkar, Rajeev; Krishna, Swathi; Tewari, Shruti

2017-01-01

This case report has been reported in line with the SCARE criteria; Consensus-based surgical case report guidelines of International Journal of Surgery 2016. Transverse Testicular Ectopia (TTE) is a rare condition which manifests with unilateral undescended testis and contralateral hernia. Till now around 100 cases have been described in the literature. The management depends on the anatomy of the vas, vessels and testis found on surgical exploration. An algorithm exists for its management and we propose a modified algorithm for management of TTE. Five year male presented with complaints of unilateral undescended testis on the right and hernia on the left. Clinically the right testis was impalpable and left testis palpable in the left hemiscrotum and fluid hernia on the same side. Transverse testicular ectopia is a rare condition presenting with UDT and contralateral inguinal hernia. Although more than 100 cases have been described in the literature so far, those managed with a transeptal contralateral orchidopexy are two cases to the best of our knowledge. TTE was first described by Von Lenhossek in 1886. The mean age of presentation is around 4 years and most of the cases are diagnosed on surgical exploration. The management of TTE remains controversial even though an algorithm has been described for its management due to its varied presenting scenarios. TTE is a rare condition which requires high index of suspicion for diagnosis preoperatively. Whenever suspected we recommend an USG and/or MRI prior to diagnostic laparoscopy and proceed with orchidopexy. Diagnostic laparoscopy is both helpful in diagnosis and management. Transeptal contralateral orchidopexy gives good tension free fixation of testes in the scrotum.

BOS MOrth cases prize 2011.

Science.gov (United States)

Patel, Jigar Vipinchandra

2013-12-01

This paper describes the orthodontic treatment of two cases awarded the prize by the British Orthodontic Society for best treated cases submitted for the Membership in Orthodontics. The first case reports on the treatment of a class III malocclusion with increased vertical lower anterior facial proportions and dentoalveolar compensation that was treated with orthodontic camouflage. The second case reports on the treatment of a class II division II malocclusion with reduced vertical lower anterior facial proportions and an overbite complete to the palate, which was treated with orthodontic camouflage.

Theory Testing Using Case Studies

DEFF Research Database (Denmark)

Møller, Ann-Kristina Løkke; Dissing Sørensen, Pernille

2014-01-01

The appropriateness of case studies as a tool for theory testing is still a controversial issue, and discussions about the weaknesses of such research designs have previously taken precedence over those about its strengths. The purpose of the paper is to examine and revive the approach of theory...... testing using case studies, including the associated research goal, analysis, and generalisability. We argue that research designs for theory testing using case studies differ from theorybuilding case study research designs because different research projects serve different purposes and follow different...... research paths....

A challenging case of invasive pulmonary aspergillosis after near-drowning: a case report and literature review.

Science.gov (United States)

Jenks, Jeffrey D; Preziosi, Michael

2015-09-01

Near-drowning, a relatively common event, is often complicated by subsequent pneumonia. While endogenous and exogenous bacteria are typical pathogens, rarely fungi are as well. We report a complicated case of invasive pulmonary aspergillosis in a 30-year-old man after a near-drowning event. We also review the medical literature for similar cases. All cases of invasive pulmonary aspergillosis after near-drowning reported in the literature involve Aspergillus fumigatus . The majority of cases involved submersion in stagnant water after a motor vehicle accident (MVA). Treatment varied considerably, with amphotericin B used in the majority of cases. Morbidity was considerable with prolonged hospitalization occurring in every case, and mortality occurring in fifty percent of the reported cases. Although a rare complication of near-drowning, invasive pulmonary aspergillosis can occur and lead to significant morbidity and mortality. After near-drowning A. fumigatus isolated from the respiratory tract should be assumed to be a true pathogen and treated accordingly.

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....

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.

Five misunderstandings about case study research

DEFF Research Database (Denmark)

Flyvbjerg, Bent

2004-01-01

This article examines five common misunderstandings about case-study research: (1) Theoretical knowledge is more valuable than practical knowledge; (2) One cannot generalize from a single case, therefore the single case study cannot contribute to scientific development; (3) The case study is most...... useful for generating hypotheses, while other methods aremore suitable for hypotheses testing and theory building; (4) The case study contains a bias toward verification; and (5) It is often difficult to summarize specific case studies. The article explains and corrects these misunderstandings one by one...... and concludes with the Kuhnian insight that a scientific discipline without a large number of thoroughly executed case studies is a discipline without systematic production of exemplars, and that a discipline without exemplars is an ineffective one. Social science may be strengthened by the execution of more...

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…

PHAKOMATOSIS PIGMENTOVASCULARIS: REPORT OF A CASE

Directory of Open Access Journals (Sweden)

Mostafa Mirshams-Shahshahani

1995-06-01

Full Text Available The present study introduces a rare case of phakomatosispigmenJovascularis, which is charaderiud by the existence ofpigmentary naevus ond vascular naevus. Until 1985, 63 cases ofthis syndrome have been reported, mostly in Japon (56 cases. This is the first case of phakomatosis pigmentovascularis, reported in Iran.

Aspectos epidemiológicos, clínicos e parasitológicos da doença de Chagas em Mato Grosso do Sul Epidemiological, clinical and parasitological aspects of Chagas' disease in Mato Grosso do Sul State

Directory of Open Access Journals (Sweden)

Maurício Antonio Pompilio

2005-12-01

Full Text Available Com o objetivo de avaliar aspectos epidemiológicos, clínicos e parasitológicos da doença de Chagas crônica, em pacientes do Hospital Universitário da Universidade Federal de Mato Grosso do Sul, realizamos um estudo seccional envolvendo 120 chagásicos e 120 controles não-chagásicos, de ambos os sexos, com idades de 16 a 82 anos. Os aspectos epidemiológicos foram avaliados por questionário, a cardiopatia por exame clínico, eletrocardiograma convencional, radiologia e ecodopplercardiograma e a presença de Trypanosoma cruzi no sangue por xenodiagnóstico e teste da reação em cadeia da polimerase. Os resultados mostraram predominância de alóctones com baixa escolaridade e referência de contato prévio com triatomíneos entre os chagásicos. Abortamento espontâneo foi mais freqüente nas mulheres chagásicas. A cardiopatia devido ao componente chagásico foi estimada em 20,2%. Apresentou-se com 7,5% de cardiomegalia, 6,2% de aneurisma de ventrículo esquerdo e com predominância de dispnéia, palpitações e hipertensão arterial. O xenodiagnóstico foi positivo em 26,1% dos chagásicos enquanto a PCR foi positiva em 53,7%. A análise dos resultados indicou que a doença de Chagas no grupo estudado apresenta características clínicas e parasitológicas que revelam peculiaridades regionais.With the objective of evaluating epidemiologic, clinical and parasitologic aspects of chronic Chagas' disease in patients from the University Hospital of the Federal University of Mato Grosso do Sul, a cross-sectional study was performed with groups of 120 chagasic and non-chagasic patients aged from 16 to 82 years. Epidemiologic aspects were evaluated by means of a questionnaire, cardiopathy by clinical examination, conventional electrocardiogram, radiology and Doppler echocardiograms (only in chagasic patients and the presence of Trypanosoma cruzi in the blood stream by way of xenodiagnosis and polymerase chain reaction test. The results

"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…

Estimating time-varying exposure-outcome associations using case-control data: logistic and case-cohort analyses.

Science.gov (United States)

Keogh, Ruth H; Mangtani, Punam; Rodrigues, Laura; Nguipdop Djomo, Patrick

2016-01-05

Traditional analyses of standard case-control studies using logistic regression do not allow estimation of time-varying associations between exposures and the outcome. We present two approaches which allow this. The motivation is a study of vaccine efficacy as a function of time since vaccination. Our first approach is to estimate time-varying exposure-outcome associations by fitting a series of logistic regressions within successive time periods, reusing controls across periods. Our second approach treats the case-control sample as a case-cohort study, with the controls forming the subcohort. In the case-cohort analysis, controls contribute information at all times they are at risk. Extensions allow left truncation, frequency matching and, using the case-cohort analysis, time-varying exposures. Simulations are used to investigate the methods. The simulation results show that both methods give correct estimates of time-varying effects of exposures using standard case-control data. Using the logistic approach there are efficiency gains by reusing controls over time and care should be taken over the definition of controls within time periods. However, using the case-cohort analysis there is no ambiguity over the definition of controls. The performance of the two analyses is very similar when controls are used most efficiently under the logistic approach. Using our methods, case-control studies can be used to estimate time-varying exposure-outcome associations where they may not previously have been considered. The case-cohort analysis has several advantages, including that it allows estimation of time-varying associations as a continuous function of time, while the logistic regression approach is restricted to assuming a step function form for the time-varying association.

Factors associated with tuberculosis cases in Semarang District, Indonesia: case-control study performed in the area where case detection rate was extremely low.

Science.gov (United States)

Rahayu, Sri Ratna; Katsuyama, Hironobu; Demura, Masashi; Katsuyama, Midori; Ota, Yoko; Tanii, Hideji; Higashi, Tomomi; Semadi, Ngakan Putu Djaja; Saijoh, Kiyofumi

2015-07-01

Indonesia is ranked as the 4th highest contributor to tuberculosis (TB) in the world. Semarang District in Central Java displays extremely low case detection rate (CDR), possibly contributing to the local prevalence of TB. A case-control study was performed to explore the factors that cause such low CDR. We recruited 129 TB cases and 83 controls that visited the same centers and were not diagnosed with TB. The cases had 7.5 ± 2.3 symptoms/person on average, indicating the delay in diagnosis because the controls only displayed 1.0 ± 1.7. The multiple logistic regression analysis comparing the cases/controls extracted following factors as a risk to have TB: farmer, close contact with TB patients, ignorance of whether Bacillus Calmette-Guérin (BCG) was accepted or no, smoking, low income, a lot of people living in the same room, irregular hand wash before meals, not wash hands after blow, soil floor, and no sunlight and no ventilation in the house. Neither the cases nor the controls knew the symptoms and how to avoid TB infection, which probably caused the delay in diagnosis. It is difficult to change the current living conditions. Thus, the amendment of the community-based education program of TB seems to be required.

Case and Administrative Support Tools

Science.gov (United States)

Case and Administrative Support Tools (CAST) is the secure portion of the Office of General Counsel (OGC) Dashboard business process automation tool used to help reduce office administrative labor costs while increasing employee effectiveness. CAST supports business functions which rely on and store Privacy Act sensitive data (PII). Specific business processes included in CAST (and respective PII) are: -Civil Rights Cast Tracking (name, partial medical history, summary of case, and case correspondance). -Employment Law Case Tracking (name, summary of case). -Federal Tort Claims Act Incident Tracking (name, summary of incidents). -Ethics Program Support Tools and Tracking (name, partial financial history). -Summer Honors Application Tracking (name, home address, telephone number, employment history). -Workforce Flexibility Initiative Support Tools (name, alternative workplace phone number). -Resource and Personnel Management Support Tools (name, partial employment and financial history).

Caseload management, work-related stress and case manager self-efficacy among Victorian mental health case managers.

Science.gov (United States)

King, Robert

2009-05-01

In Australia and comparable countries, case management has become the dominant process by which public mental health services provide outpatient clinical services to people with severe mental illness. There is recognition that caseload size impacts on service provision and that management of caseloads is an important dimension of overall service management. There has been little empirical investigation, however, of caseload and its management. The present study was undertaken in the context of an industrial agreement in Victoria, Australia that required services to introduce standardized approaches to caseload management. The aims of the present study were therefore to (i) investigate caseload size and approaches to caseload management in Victoria's mental health services; and (ii) determine whether caseload size and/or approach to caseload management is associated with work-related stress or case manager self-efficacy among community mental health professionals employed in Victoria's mental health services. A total of 188 case managers responded to an online cross-sectional survey with both purpose-developed items investigating methods of case allocation and caseload monitoring, and standard measures of work-related stress and case manager personal efficacy. The mean caseload size was 20 per full-time case manager. Both work-related stress scores and case manager personal efficacy scores were broadly comparable with those reported in previous studies. Higher caseloads were associated with higher levels of work-related stress and lower levels of case manager personal efficacy. Active monitoring of caseload was associated with lower scores for work-related stress and higher scores for case manager personal efficacy, regardless of size of caseload. Although caseloads were most frequently monitored by the case manager, there was evidence that monitoring by a supervisor was more beneficial than self-monitoring. Routine monitoring of caseload, especially by a workplace

Improvement of Students’ Ability to Analyzing Cases on Case Studies Through Journal and Learning Log

Directory of Open Access Journals (Sweden)

Riska Ahmad

2017-08-01

Full Text Available The purpose of this research is to improve the ability of students in guidance and counseling  to  analyzing the case through journals and learning logs This research is classroom action research consists of two cycles. The research phase consisted of planning, implementation, observation and reflection. The research subject are students in guidance and counseling while they are in sixth semester, totaling 20 people who were taking courses in Case Study. The research instrument is the observation guidelines, assessment rubrics and documentation of case studies in the form of journals and learning logs, and case study reports. The study was conducted collaboratively with student magister’s program guidance and counseling. The results showed that in cycle 1 students are able to identify cases, to develop ideas about the case, select and use instruments to analyze the cause of the problem. The results of the research cycle 2, showed 17 of the 20 students were able to analyze the cause of the problem, select the type of service and provide appropriate assistance in accordance with problem cases. Overall value obtained by the students in the subject of Case Studies also increased. In terms of the ability of explanation of the concept, the concept of truth and creativity, based on the ratings given by fellow students of average ability students were in either category, although there is less good, as are associated with the activity of the opinion and the quality of the opinions expressed.

Genetic Engineering and Sustainable Crop Disease Management: Opportunities for Case-by-Case Decision-Making

Directory of Open Access Journals (Sweden)

Paul Vincelli

2016-05-01

Full Text Available Genetic engineering (GE offers an expanding array of strategies for enhancing disease resistance of crop plants in sustainable ways, including the potential for reduced pesticide usage. Certain GE applications involve transgenesis, in some cases creating a metabolic pathway novel to the GE crop. In other cases, only cisgenessis is employed. In yet other cases, engineered genetic changes can be so minimal as to be indistinguishable from natural mutations. Thus, GE crops vary substantially and should be evaluated for risks, benefits, and social considerations on a case-by-case basis. Deployment of GE traits should be with an eye towards long-term sustainability; several options are discussed. Selected risks and concerns of GE are also considered, along with genome editing, a technology that greatly expands the capacity of molecular biologists to make more precise and targeted genetic edits. While GE is merely a suite of tools to supplement other breeding techniques, if wisely used, certain GE tools and applications can contribute to sustainability goals.

Shared written case formulations and weight change in outpatient therapy for anorexia nervosa: a naturalistic single case series.

Science.gov (United States)

Gladwin, Alice M; Evangeli, Michael

2013-01-01

The therapeutic effects of written shared case formulations are underexplored and have not been examined in anorexia nervosa. This study explored the relationship between (a) the delivery (b) the quality of a shared written case formulation and weight in outpatient psychological therapy for anorexia nervosa. A naturalistic single case series approach was used to examine the case notes of women who had attended a specialist eating disorders service over a 2-year period. The case notes of 15 adult women who had undergone outpatient psychological therapy for anorexia nervosa with a shared written case formulation component were reviewed. The impact of the quality of the case formulation on weekly weight was examined for 14 of the clients where the case formulation was available. The nature of the relationship between the delivery of the written shared case formulation and weight was examined for all 15 clients. There was some evidence to support an association between delivery of the shared written case formulation and weight changes (both weight gain [five out of 15 clients] and weight loss [three out of 15 clients]) in individual cases. Higher case formulation quality was related to cases where weight change did not occur. The delivery of case formulations can be associated with important therapeutic change (both beneficial and potentially harmful) in anorexia nervosa. Future research into the causal mechanisms associated with sharing formulations will face the challenge of adopting strategies that allow for an in-depth exploration of complex therapy variables whilst overcoming methodological challenges. Copyright © 2012 John Wiley & Sons, Ltd.

Case-based medical informatics

Directory of Open Access Journals (Sweden)

Arocha José F

2004-11-01

Full Text Available Abstract Background The "applied" nature distinguishes applied sciences from theoretical sciences. To emphasize this distinction, we begin with a general, meta-level overview of the scientific endeavor. We introduce the knowledge spectrum and four interconnected modalities of knowledge. In addition to the traditional differentiation between implicit and explicit knowledge we outline the concepts of general and individual knowledge. We connect general knowledge with the "frame problem," a fundamental issue of artificial intelligence, and individual knowledge with another important paradigm of artificial intelligence, case-based reasoning, a method of individual knowledge processing that aims at solving new problems based on the solutions to similar past problems. We outline the fundamental differences between Medical Informatics and theoretical sciences and propose that Medical Informatics research should advance individual knowledge processing (case-based reasoning and that natural language processing research is an important step towards this goal that may have ethical implications for patient-centered health medicine. Discussion We focus on fundamental aspects of decision-making, which connect human expertise with individual knowledge processing. We continue with a knowledge spectrum perspective on biomedical knowledge and conclude that case-based reasoning is the paradigm that can advance towards personalized healthcare and that can enable the education of patients and providers. We center the discussion on formal methods of knowledge representation around the frame problem. We propose a context-dependent view on the notion of "meaning" and advocate the need for case-based reasoning research and natural language processing. In the context of memory based knowledge processing, pattern recognition, comparison and analogy-making, we conclude that while humans seem to naturally support the case-based reasoning paradigm (memory of past experiences

Five misunderstandings about Case-study Research

DEFF Research Database (Denmark)

Flyvbjerg, Bent

This article examines five common misunderstandings about case-study research: (1) Theoretical knowledge is more valuable than practical knowledge; (2) One cannot generalize from a single case, therefore the single case study cannot contribute to scientific development; (3) The case study is most...... useful for generating hypotheses, while other methods aremore suitable for hypotheses testing and theory building; (4) The case study contains a bias toward verification; and (5) It is often difficult to summarize specific case studies. The article explains and corrects these misunderstandings one by one...... and concludes with the Kuhnian insight that a scientific discipline without a large number of thoroughly executed case studies is a discipline without systematic production of exemplars, and that a discipline without  exemplars is an ineffective one. Social science may be strengthened by the execution of more...

First case of bacteremia caused by Moellerella wisconsensis: case report and a review of the literature.

Science.gov (United States)

Cardentey-Reyes, A; Jacobs, F; Struelens, M J; Rodriguez-Villalobos, H

2009-12-01

Moellerella wisconsensis, a member of the Enterobacteriaceae family, is rarely isolated in clinical specimens. We report here a case of M. wisconsensis infection in a 46-year-old cirrhotic patient with acute cholecystitis. This is the first reported case of a M. wisconsensis infection in Belgium and the first reported case of human bacteremia caused by this bacterium. Our case report is followed by a review of the literature.

Dioctophymiasis: A Rare Case Report.

Science.gov (United States)

Chauhan, Sapna; Kaval, Sunil; Tewari, Swati

2016-02-01

Dioctophyma renale commonly known as "giant kidney worm' is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India.

Urachal endometrioma: a case report.

LENUS (Irish Health Repository)

Browne, Katherine M

2009-01-01

INTRODUCTION: We discuss a rare presentation of an unusual case of endometrioma. CASE PRESENTATION: A 40-year-old Caucasian woman presented with subacute abdominal pain and a suprapubic mass. A final diagnosis was made after the mass was resected and histopathology confirmed an endometrioma originating from an urachal remnant. Select imaging studies and histopathology are presented in this case report. CONCLUSION: While endometriomata are well known to arise from abdominal scars, the condition described in this case report is a rare example of an endometrioma arising from the urachus. A review of the pathological complications of the urachus is also included.

[Urogenital tuberculosis. Apropos of 40 cases].

Science.gov (United States)

el Khader, K; el Fassi, J; Karmouni, T; Tazi, K; Ibnattya, A; Hachimi, M; Lakrissa, A

1997-01-01

The authors report a series of 40 cases of genitourinary tuberculosis diagnosed and treated in the department of urology "B" of Avicenne hospital over a 7-year period. The objective of this study is to define the various diagnostic and therapeutic aspects of this disease. The patients were predominantly males (62.5%) with a mean age of 40 years. 25% of cases reported a history of extra-urinary tuberculosis. The very polymorphous clinical presentation is dominated by signs of cystitis (45%). Intravenous urography is frequently suggestive of the diagnosis based on the appearance and multiplicity of the lesions. The radiological lesions most frequently encountered were silent kidney (19 cases) and small tuberculous bladder (11 cases). The definitive diagnosis was established by pathological examination in 38 cases (biopsies, operative specimens, prostatic resection chips) and/or by demonstration of AFB in 2 cases (urine, pus). Tuberculostatic treatment was administered to all patients, either alone (5 cases) or, more usually, in combination with surgical and/or endo-urological treatment (35 cases), reflecting the magnitude and severity of the destructive and scar lesions.

Medico-legal findings, legal case progression, and outcomes in South African rape cases: retrospective review.

Directory of Open Access Journals (Sweden)

Rachel Jewkes

2009-10-01

Full Text Available BACKGROUND: Health services for victims of rape are recognised as a particularly neglected area of the health sector internationally. Efforts to strengthen these services need to be guided by clinical research. Expert medical evidence is widely used in rape cases, but its contribution to the progress of legal cases is unclear. Only three studies have found an association between documented bodily injuries and convictions in rape cases. This article aims to describe the processing of rape cases by South African police and courts, and the association between documented injuries and DNA and case progression through the criminal justice system. METHODS AND FINDINGS: We analysed a provincially representative sample of 2,068 attempted and completed rape cases reported to 70 randomly selected Gauteng province police stations in 2003. Data sheets were completed from the police dockets and available medical examination forms were copied. 1,547 cases of rape had medical examinations and available forms and were analysed, which was at least 85% of the proportion of the sample having a medical examination. We present logistic regression models of the association between whether a trial started and whether the accused was found guilty and the medico-legal findings for adult and child rapes. Half the suspects were arrested (n = 771, 14% (209 of cases went to trial, and in 3% (31 of adults and 7% (44 of children there was a conviction. A report on DNA was available in 1.4% (22 of cases, but the presence or absence of injuries were documented in all cases. Documented injuries were not associated with arrest, but they were associated with children's cases (but not adult's going to trial (adjusted odds ratio [AOR] for having genital and nongenital injuries 5.83, 95% confidence interval [CI] 1.87-18.13, p = 0.003. In adult cases a conviction was more likely if there were documented injuries, whether nongenital injuries alone AOR 6.25 (95% CI 1.14-34.3, p = 0

Theory testing using case studies

DEFF Research Database (Denmark)

Dissing Sørensen, Pernille; Løkke Nielsen, Ann-Kristina

2006-01-01

on the strengths of theory-testing case studies. We specify research paths associated with theory testing in case studies and present a coherent argument for the logic of theoretical development and refinement using case studies. We emphasize different uses of rival explanations and their implications for research...... design. Finally, we discuss the epistemological logic, i.e., the value to larger research programmes, of such studies and, following Lakatos, conclude that the value of theory-testing case studies lies beyond naïve falsification and in their contribution to developing research programmes in a progressive......Case studies may have different research goals. One such goal is the testing of small-scale and middle-range theories. Theory testing refers to the critical examination, observation, and evaluation of the 'why' and 'how' of a specified phenomenon in a particular setting. In this paper, we focus...

Estimating time-varying exposure-outcome associations using case-control data: logistic and case-cohort analyses

Directory of Open Access Journals (Sweden)

Ruth H. Keogh

2016-01-01

Full Text Available Abstract Background Traditional analyses of standard case-control studies using logistic regression do not allow estimation of time-varying associations between exposures and the outcome. We present two approaches which allow this. The motivation is a study of vaccine efficacy as a function of time since vaccination. Methods Our first approach is to estimate time-varying exposure-outcome associations by fitting a series of logistic regressions within successive time periods, reusing controls across periods. Our second approach treats the case-control sample as a case-cohort study, with the controls forming the subcohort. In the case-cohort analysis, controls contribute information at all times they are at risk. Extensions allow left truncation, frequency matching and, using the case-cohort analysis, time-varying exposures. Simulations are used to investigate the methods. Results The simulation results show that both methods give correct estimates of time-varying effects of exposures using standard case-control data. Using the logistic approach there are efficiency gains by reusing controls over time and care should be taken over the definition of controls within time periods. However, using the case-cohort analysis there is no ambiguity over the definition of controls. The performance of the two analyses is very similar when controls are used most efficiently under the logistic approach. Conclusions Using our methods, case-control studies can be used to estimate time-varying exposure-outcome associations where they may not previously have been considered. The case-cohort analysis has several advantages, including that it allows estimation of time-varying associations as a continuous function of time, while the logistic regression approach is restricted to assuming a step function form for the time-varying association.

Cases for the Net Generation: An Empirical Examination of Students' Attitude toward Multimedia Case Studies

Science.gov (United States)

Sheppard, Michael; Vibert, Conor

2016-01-01

Case studies have been an important tool in business, legal, and medical education for generations of students. Traditional text-based cases tend to be self-contained and structured in such a way as to teach a particular concept. The multimedia cases introduced in this study feature unscripted web-hosted video interviews with business owners and…

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

Electromagnetic fields in cased borehole

International Nuclear Information System (INIS)

Lee, Ki Ha; Kim, Hee Joon; Uchida, Toshihiro

2001-01-01

Borehole electromagnetic (EM) measurements, using fiberglass-cased boreholes, have proven useful in oil field reservoir characterization and process monitoring (Wilt et al., 1995). It has been presumed that these measurements would be impossible in steel-cased wells due to the very large EM attenuation and phase shifts. Recent laboratory and field studies have indicated that detection of EM signals through steel casing should be possible at low frequencies, and that these data provide a reasonable conductivity image at a useful scale. Thus, we see an increased application of this technique to mature oilfields, and an immediate extension to geothermal industry as well. Along with the field experiments numerical model studies have been carried out for analyzing the effect of steel casing to the EM fields. The model used to be an infinitely long uniform casing embedded in a homogeneous whole space. Nevertheless, the results indicated that the formation signal could be accurately recovered if the casing characteristics were independently known (Becker et al., 1998; Lee el al., 1998). Real steel-cased wells are much more complex than the simple laboratory models used in work to date. The purpose of this study is to develop efficient numerical methods for analyzing EM fields in realistic settings, and to evaluate the potential application of EM technologies to cross-borehole and single-hole environment for reservoir characterization and monitoring

Bioremediation case studies: Abstracts. Final report

International Nuclear Information System (INIS)

Devine, K.

1992-03-01

The report contains abstracts of 132 case studies of bioremediation technology applied to hazardous waste clean-up. It was prepared to compile bioremediation studies in a variety of locations and treating diverse contaminants, most of which were previously undocumented. All data are based on vendor-supplied information and there was no opportunity to independently confirm its accuracy. These 132 case studies, from 10 different biotechnology companies, provide users with reference information about on-going and/or completed field applications and studies. About two-thirds of the cases were at full-scale clean-up level with the remainder at pilot or laboratory scale. In 74 percent of the cases, soil was at least one of the media treated. Soil alone accounts for 46 percent of the cases. Petroleum-related wastes account for the largest contaminant with 82 cases. Thirty-one states are represented in the case studies

How To Set Up Your Own Small Business. Service Company Case Study. Manufacturing Firm Case Study. Retail Store Case Study.

Science.gov (United States)

Fallek, Max

This collection of case studies is intended for use in a course in setting up a small business. The first, a case study of the process of setting up a service company, covers analyzing the pros and cons of starting one's own business, assessing the competition and local market, and selecting a site for and financing the business. The principal…

The role of radionuclide studies in emergency cases

International Nuclear Information System (INIS)

Nishimura, Tsunehiko; Hayashida, Kohei; Uehara, Toshiisa

1982-01-01

Radionuclide studies have been performed popularly because of its noninvasive and simple method recently. In this study, we applied this technique for the evaluation of emergency cases in cardiovascular diseases. There were 93 cases (1.5%) out of 6163 cases, done during 1981. The subjects were 34 cases of cardiac studies (9 cases of sup(99m)Tc-PYP myocardial imaging, 12 cases of thallium myocardial imaging, 13 cases of cardioangiography), 23 cases of peripheral diseases (12 cases of peripheral angiography, 11 cases of venography), 16 cases of pulmonary imaging, 10 cases of renal studies (6 cases of renal angiography, 9 cases of renal imaging) and 5 cases of brain angiography. These studies were proven to be useful clinically for the evaluation of emergency cases and follow-up studies. In the near future, ''emergency radionuclide studies'' would be benefit for the high-risk patients noninvasively. (author)

Case Briefs in Legal English Classes

Directory of Open Access Journals (Sweden)

Bilová Stĕpánka

2016-06-01

Full Text Available A case brief can be described as a succinct summary of a case which specifies the facts, procedural history, legal issue(s, court decision and legal reasoning supporting the judgment, even though exact formats may vary. Case briefing is a demanding activity which is required from students during their law studies. The goal is to teach students to focus on the essential parts of the case and to obtain a thorough understanding of the case and the reasoning, which means the students need to employ their analytical and critical thinking skills.

Rhetorical Structure and Linguistic Features of Case Presentations in Case Reports in Taiwanese and International Medical Journals

Science.gov (United States)

Hung, Hsuan; Chen, Pi-Ching; Tsai, Jing-Jane

2012-01-01

The case presentation is the core section of a medical case report. Issues in the teaching of case report writing have recently been the subject of great interest in medical education, especially in the era of globalization. Given that Taiwanese medical students, residents and junior physicians are requested to write case reports in English and…

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.

[The case manager--from words to deeds?].

Science.gov (United States)

Lindegaard, Birthe Rosenkrantz; Qvist, Peter

2010-04-19

Allocation of a case manager is now mandatory for both in- and outpatients in Denmark. Case manager allocation is reported quarterly to the regions and results are generally satisfying. Knowledge about fulfillment of the case manager role is, however, sparse. This study aims to examine the degree of fulfillment of the case manager role for a sample of inpatients. Two medical and two surgical wards participated. Patients were interviewed in relation to discharge while staff assigned as case managers completed a survey. Both patients and case managers answered questions regarding the defined roles as case managers: Planning/coordination, continuous information and discharge planning. 107 of 125 eligible patients were interviewed. Only 25 declared themselves informed about the allocation of a case manager. The patients' assessment of the service provided by the staff in relation to case manager tasks was generally good, but the services were seldom provided by the named case manager. 22% of patients did not experience continuous information, while only 13% did not experience a generally coherent stay in hospital. 110 case managers completed the survey. Less than half felt themselves well informed about the case manager role. Only a few case managers feel that they succeed in fulfilling the role, particularly regarding the participation in discharge planning. There seems to be a need for a targeted effort to improve the conditions for case managers in Danish hospitals in order to meet the intentions of this initiative.

BioFleet case studies

International Nuclear Information System (INIS)

2007-01-01

These six case studies examined the use of different biodiesel blends as fuel supply sources for businesses in British Columbia (BC). In the first case study, 6 municipalities participated in a pilot program designed to compare the performance of biodiesel and diesel fuels. Each municipality operated 2 base vehicles running on conventional diesel along with 2 similar vehicles which used biodiesel. Real time emissions tests and analyses of the vehicles using biodiesel were also conducted by 2 of the participating municipalities. All municipalities participating in the study agreed to purchase significant volumes of biodiesel. The second case study described a pilot study conducted by the City of Vancouver's equipment services branch in 2004. As a result of the study, the city now has over 530 types of equipment that use biodiesel. The third case study described a program designed by TSI Terminals in Vancouver to assess the emission reduction impact of using biodiesel at its port facility. Six different pieces of equipment were used to confirm that biodiesel could be used throughout the terminal. Test results confirmed that biodiesel blends could be used to reduce emissions. Overall emissions were reduced by 30 per cent. The fourth case study described a waste renderer that used a fleet of 36 trucks to deliver raw products to its plants. The company made the decision to use only biodiesel for its entire fleet of trucks. Since July 2005, the company has logged over 1.7 million km using biodiesel blends. The fifth case study described a salmon hatchery that switched from diesel to biodiesel in order to reduce emissions. The biodiesel blends are used to fuel the hatchery's 2 diesel generators. The hatchery has reduced emissions of greenhouse gases (GHGs) by an estimated 1800 tonnes annually. The sixth case study described how the Township of Langley has started using biodiesel for its entire fleet of of approximately 250 pieces of equipment. The township has not

Case-based Agile Fixture Design

Institute of Scientific and Technical Information of China (English)

无

2001-01-01

In order to realize the agility of the fixture design, such asreconfigurability, rescalability and reusability, fixture structure is function unit-based decomposed from a fire-new point of view. Which makes it easy for agile fixture to be reconfigured and modified. Thereby, the base of case-based agile fixture design system info is established.Whole case-based agile fixture design model is presented. In which, three modules are added relative to the other models, including case matching of fixture planning module, conflict arbitration module and agile fixture case modify module. The three modules could solve the previous problem that the experience and result are difficult to be reused in the process of design.Two key techniques in the process of the agile fixture design, the evaluation of case similarity, and restriction-based conflict arbitration, are listed. And some methods are presented to evaluate the similarity and clear up the conflict.

Endodontic cellulitis 'flare-up'. Case report.

Science.gov (United States)

Matusow, R J

1995-02-01

Endodontic cellulitis involves facial swelling which can vary from mild to severe and can occur as a primary case or a flare-up following initial treatment of asymptomatic teeth with periapical lesions. The microbial spectrum in primary cases involves a significant mixture of anaerobic and facultative aerobic microbes, chiefly streptococci. In a previous study, cultures from flare-up cases, utilizing the same anaerobic techniques as in primary cases, revealed an absence of obligate anaerobes and an 80 per cent incidence of facultative aerobic streptococci. These cases also revealed a significant time lapse from onset of symptoms to the cellulitis phase. No sex or age factors were noted in the primary or flare-up cases. The purpose of this case report is to restate a traditional theory, namely, the alteration of the oxidation/reduction potential (Eh), as a major factor for endodontic cellulitis flare-ups; to confirm the pathogenic potential of oral facultative streptococci; and that asymptomatic endodontic lesions tend to exist with mixed aerobic/anaerobic microbial flora.

Fuzzy-Set Case Studies

Science.gov (United States)

Mikkelsen, Kim Sass

2017-01-01

Contemporary case studies rely on verbal arguments and set theory to build or evaluate theoretical claims. While existing procedures excel in the use of qualitative information (information about kind), they ignore quantitative information (information about degree) at central points of the analysis. Effectively, contemporary case studies rely on…

Case manager satisfaction in public health.

Science.gov (United States)

Schutt, Russell K; Fawcett, Jacqueline; Gall, Gail B; Harrow, Brooke; Woodford, Mary Lou

2010-01-01

The purpose of this study was to examine correlates of case managers' satisfaction with their work, services, and service network and to identify connections to service performance and service costs. A decentralized public health program that exemplifies the trend toward more diverse clients and networked services. A mixed method design with 34 case managers. As hypothesized, the case managers' experiences with clients and the service network, and their service effectiveness, were associated with their satisfaction with their jobs and the services they provide. Satisfaction was also positively associated with more timely service delivery. These associations were explained in part by case managers' education and training. Case managers can achieve high levels of job and service satisfaction in outreach programs serving a diverse client population in a decentralized service network. Case managers' job and service satisfaction improves with reduced service problems and service delays and when case managers can devise work-arounds for persistent service problems. Using advanced practice nurses (APN) and providing more on-the-job training may increase case manager satisfaction with their jobs and the services they provide. Special efforts may be needed to prevent a decline in job satisfaction with years of experience.

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.

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 ...

Case Report: A Rare Case Report of Frontal Lobe Syndrome

Directory of Open Access Journals (Sweden)

Morteza Nouri- Khajavi

2003-04-01

Full Text Available The frontal lobe syndrome is a permanent personality change disorder with characteristic clinical pictures, which followed by frontal lobes damage. Clinical picture include: Affective instability, recurrent aggressive behavior, impaired social judgment, apathy and undifferentiating or suspiciousness and paranoid ideations. According DSM-IV classification frontal lobe syndrome named personality change due to head trauma on Axis I. Herein we report a case of 46 years-old man, who has developed behavioral disturbances following head trauma, about 10 years ago. Main clinical figures in this case are apathy, avolition and, undifferentiating. Clinical pictures are constant during these 10 years. The diagnostic approach has been based on patient’s problems history which, has taken from his family, mental status examination, Neurological examination, Brain imaging and Neuropsychological assessments which related to frontal lobes function. Because of rarity & neglection due to mysterious function of frontal lobes, and also considering that personality change from previous level is prominent figure of this syndrome and also brain imaging findings, which compatible with clinical findings, with this aim, we have reported this case.

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 ...

What is in a Business Case? Business Cases as a Tool‐in‐Use for Promoting Water Stewardship

DEFF Research Database (Denmark)

Pedersen, Esben Rahbek Gjerdrum; Lauesen, Linne Marie; Rosati, Francesco

This paper explores the role of business cases as a tool‐in‐use for decision‐making processes on Water management. The literature is rich on generic discussions of the business case for corporate sustainability, whereas there have been less efforts to examine the concrete use of business cases...... in everyday organisational life. Drawing on the practice‐based management literature, it is concluded that the business case tool has a decisive influence on water management activities among European food companies. However, the analysis also show the business case tool are not set in stone but can...

Characteristics of sick-listing cases that physicians consider problematic--analyses of written case reports.

Science.gov (United States)

Engblom, Monika; Alexanderson, Kristina; Rudebeck, Carl Edvard

2009-01-01

The aim was to discern common characteristics in the sick-listing cases that physicians in general practice and occupational health services find problematic. Descriptive categorization within a narrative theoretical framework. Sickness-insurance course for physicians in general practice and occupational health services. A total of 195 case reports written by 195 physicians. Main outcome measures. Categories of features regarding medical, work, and social situation as well as medical interventions. Beside age and sex, the following information was often provided: family situation, stressful life events, occupation, problem at work, considerations concerning diagnoses, medical investigations, treatments, and vocational rehabilitation measures. Two-thirds of the patients had been sickness absent for more than a year. The most common type of case reports concerned women, employed in non-qualified nursing occupations, and sick listed due to mental disorders. The most common measures taken by the physicians were referrals to psychotherapy and/or physiotherapy, and prescribing antidepressants (SSRI). Facts about alcohol habits were rarely provided in the cases. Some of the circumstances, such as prolonged sick-listing, are likely to be more or less inevitable in problematic sick-listing cases. Other circumstances, such as stress-full life events, more closely reflect what the reporting physicians find problematic. The categories identified can be regarded as markers of problematic sick-listing cases in general practice and occupational health service.

Selecting appropriate cases when tracing causal mechanisms

DEFF Research Database (Denmark)

Beach, Derek; Pedersen, Rasmus Brun

2016-01-01

The last decade has witnessed resurgence in the interest in studying the causal mechanisms linking causes and outcomes in the social sciences. This article explores the overlooked implications for case selection when tracing mechanisms using in-depth case studies. Our argument is that existing case...... selection guidelines are appropriate for research aimed at making cross-case claims about causal relationships, where case selection is primarily used to control for other causes. However, existing guidelines are not in alignment with case-based research that aims to trace mechanisms, where the goal...... is to unpack the causal mechanism between X and Y, enabling causal inferences to be made because empirical evidence is provided for how the mechanism actually operated in a particular case. The in-depth, within-case tracing of how mechanisms operate in particular cases produces what can be termed mechanistic...

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

Case assessments for nuclear medicine registrars

International Nuclear Information System (INIS)

Farlow, D.

1994-01-01

Westmead Hospital set some of the recent nuclear medicine cases for registrar training. These case assessments have been completed by the registrars and he thought it might be interesting for the general nuclear medicine community to attempt the cases themselves and compare their answers with the model reports and patient follow-ups. Edited versions of two cases and model answers are presented. 35 refs

Ulnar nerve lesion at the wrist and sport: A report of 8 cases compared with 45 non-sport cases.

Science.gov (United States)

Seror, P

2015-04-01

Reporting clinical and electrodiagnostic characteristics of sport-related ulnar neuropathies at the wrist. Eight sport-related and 45 non-sport-related cases from 53 ulnar neuropathies at the wrist cases over 14 years. Sport-related ulnar neuropathies at the wrist cases were due to cycling (5 cases), kayaking (2 cases), and big-game fishing (1 case). No patient had sensory complaints in ulnar digits, and all had motor impairment. Conduction across the wrist with recording on the first dorsal interosseous muscle was impaired in all cases, with conduction block in 5. Two cyclists showed bilateral ulnar neuropathies at the wrist. All cases recovered within 2 to 6 months with sport discontinuation. Distal lesions of the deep motor branch were more frequent in sport- than non-sport-related cases. The 8 sport-related ulnar neuropathies at the wrist cases involved the deep motor branch. Conduction study to the first dorsal interosseous muscle across the wrist is the key to electrodiagnostics. Bilateral cases in cyclists does not require wrist imaging. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

[Ectopic breast fibroadenoma. Case report].

Science.gov (United States)

Senatore, G; Zanotti, S; Cambrini, P; Montroni, I; Pellegrini, A; Montanari, E; Santini, D; Taffurelli, M

2010-03-01

Among the rare anomalies of the breast development, polythelia is the most common, between 1% and 5% of women and men present supernumerary nipples. Polymastia, usually presenting as ectopic breast tissue without areola-nipple complex, is seen mostly along the milk line, extending from the axilla to the pubic region. Ectopic breast tissue is functionally analogous to mammary gland and it is subjected to the same alterations and diseases, whether benign or malignant, that affect normal breast tissue. We report the case of a 21 years-old female evaluated by the medical staff after founding a solid nodular mass by suspect axillary lymphadenopathy. Differential diagnosis with lymphoma is the major problem in these cases. The mass was removed and the intraoperative histological examination showed fibroadenoma in axillary supernumerary breast. Presence of ectopic breast tissue is a rare condition; development of benign mass or malignant degeneration is possible, but it is very unusual. In case of polymastia diagnosis is simple; in case of isolated nodule, without local inflammation or infection, there are greater difficulties. Ultrasonography is diagnostic in case of breast fibroadenoma, but it might be inadequate in ectopic localizations owing to the shortage of mammary tissue around the mass. Preoperative diagnosis is important to plan an adequate surgical treatment; lumpectomy is indicated in case of benign tissue; in case of malignancy, therapy is based on the standard treatment used for breast cancer (surgery, chemotherapy and radiation therapy).

Two cases of rheumatoid meningitis.

Science.gov (United States)

Magaki, Shino; Chang, Edward; Hammond, Robert R; Yang, Isaac; Mackenzie, Ian R A; Chou, Benedict T; Choi, Soo I; Jen, Joanna C; Pope, Whitney B; Bell, David A; Vinters, Harry V

2016-02-01

Central nervous system (CNS) involvement by rheumatoid arthritis (RA) in the form of rheumatoid meningitis (RM) is rare and most commonly occurs in the setting of longstanding severe RA. Due to a wide range of clinical presentations and nonspecific laboratory findings, it presents a diagnostic challenge often requiring brain biopsy. Only a few histopathologically confirmed cases have been described in the literature. Our aim is to describe two cases of RM and review the literature. The first case is of a previously healthy 37-year-old man who presented with severe headaches and focal neurologic deficits. Magnetic resonance imaging demonstrated abnormal leptomeningeal enhancement in the left frontal and parietal sulci. The second case is of a 62-year-old woman with a history of mild chronic joint pain who presented with confusion, personality changes and seizures. Both patients ultimately underwent brain biopsy which demonstrated RM on pathologic examination. Administration of corticosteroids resulted in significant clinical improvement in both cases. To our knowledge, our unusual case of RM in the young man is the fifth reported case of rheumatoid meningitis in a patient with no prior history of RA. Such an atypical presentation makes diagnosis even more difficult and highlights the need for awareness of this entity in the diagnostic consideration of a patient presenting with unexplained neurologic symptoms. Our literature review underscores the clinical and pathologic heterogeneity of CNS involvement in RA. © 2015 Japanese Society of Neuropathology.

Sensitivity analysis for matched pair analysis of binary data: From worst case to average case analysis.

Science.gov (United States)

Hasegawa, Raiden; Small, Dylan

2017-12-01

In matched observational studies where treatment assignment is not randomized, sensitivity analysis helps investigators determine how sensitive their estimated treatment effect is to some unmeasured confounder. The standard approach calibrates the sensitivity analysis according to the worst case bias in a pair. This approach will result in a conservative sensitivity analysis if the worst case bias does not hold in every pair. In this paper, we show that for binary data, the standard approach can be calibrated in terms of the average bias in a pair rather than worst case bias. When the worst case bias and average bias differ, the average bias interpretation results in a less conservative sensitivity analysis and more power. In many studies, the average case calibration may also carry a more natural interpretation than the worst case calibration and may also allow researchers to incorporate additional data to establish an empirical basis with which to calibrate a sensitivity analysis. We illustrate this with a study of the effects of cellphone use on the incidence of automobile accidents. Finally, we extend the average case calibration to the sensitivity analysis of confidence intervals for attributable effects. © 2017, The International Biometric Society.

Formal Analysis Of Use Case Diagrams

Directory of Open Access Journals (Sweden)

Radosław Klimek

2010-01-01

Full Text Available Use case diagrams play an important role in modeling with UML. Careful modeling is crucialin obtaining a correct and efficient system architecture. The paper refers to the formalanalysis of the use case diagrams. A formal model of use cases is proposed and its constructionfor typical relationships between use cases is described. Two methods of formal analysis andverification are presented. The first one based on a states’ exploration represents a modelchecking approach. The second one refers to the symbolic reasoning using formal methodsof temporal logic. Simple but representative example of the use case scenario verification isdiscussed.

Gastric pseudolymphoma: Report of 3 cases

International Nuclear Information System (INIS)

Lee, Mi Sook; Kim, Ki Whang; Kim, Dong Ik; Lee, Jong Tae; Park, Chang Yun

1983-01-01

The pseudolymphoma of the stomach is known to be a benign proliferation of lymphoid tissue, which can be mistaken histologically for malignant lymphoma. The etiology of pseudo lymphoma is controversial, but it B believed to be a manifestation of chronic inflammatory process. Authors present 3 cases of gastric lymphoma. Impression of upper gastrointestinal series were as follows; lymphoma or chronic gastritis in one case, ulcerative carcinoma in another case and early gastric carcinoma in the other case. Initial endoscopic findings suggested infiltrating carcinoma, ulcerative carcinoma and two benign gastric ulcers, respectively. One case was associated with early gastric carcinoma

Gastric pseudolymphoma: Report of 3 cases

Energy Technology Data Exchange (ETDEWEB)

Lee, Mi Sook; Kim, Ki Whang; Kim, Dong Ik; Lee, Jong Tae; Park, Chang Yun [Yonsei University College of Medicine, Seoul (Korea, Republic of)

1983-12-15

The pseudolymphoma of the stomach is known to be a benign proliferation of lymphoid tissue, which can be mistaken histologically for malignant lymphoma. The etiology of pseudo lymphoma is controversial, but it B believed to be a manifestation of chronic inflammatory process. Authors present 3 cases of gastric lymphoma. Impression of upper gastrointestinal series were as follows; lymphoma or chronic gastritis in one case, ulcerative carcinoma in another case and early gastric carcinoma in the other case. Initial endoscopic findings suggested infiltrating carcinoma, ulcerative carcinoma and two benign gastric ulcers, respectively. One case was associated with early gastric carcinoma.

The input ambiguity hypothesis and case blindness: an account of cross-linguistic and intra-linguistic differences in case errors.

Science.gov (United States)

Pelham, Sabra D

2011-03-01

English-acquiring children frequently make pronoun case errors, while German-acquiring children rarely do. Nonetheless, German-acquiring children frequently make article case errors. It is proposed that when child-directed speech contains a high percentage of case-ambiguous forms, case errors are common in child language; when percentages are low, case errors are rare. Input to English and German children was analyzed for percentage of case-ambiguous personal pronouns on adult tiers of corpora from 24 English-acquiring and 24 German-acquiring children. Also analyzed for German was the percentage of case-ambiguous articles. Case-ambiguous pronouns averaged 63·3% in English, compared with 7·6% in German. The percentage of case-ambiguous articles in German was 77·0%. These percentages align with the children's errors reported in the literature. It appears children may be sensitive to levels of ambiguity such that low ambiguity may aid error-free acquisition, while high ambiguity may blind children to case distinctions, resulting in errors.

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....

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

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.

Cytological diagnosis of erythema nodosum leprosum in clinically unsuspected cases: A report of two cases

Directory of Open Access Journals (Sweden)

Shruti Semwal

2018-01-01

Full Text Available Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The manifestations of this disease varies across the spectrum of tuberculoid (TT to lepromatous (LL leprosy.The course of this indolent disease is interrupted by acute exacerbations in the form of leprare actions. Erythema nodosum leprosum (ENL, a type 2 lepra reaction, occurs in lepromatous or borderline lepromatous cases, usually in response to multidrug therapy. Early detection and timely management of these patients is important to reduce the associated morbidity. We report two clinically unusual cases of ENL on fine-needle aspiration cytology. In one case, antileprosy treatment was completed 10 years back, whereas in the other case, ENL was the presenting feature of the disease. Cytological examination of swelling in both the cases showed neutrophils, lymphoid cells, clusters of foamy macrophages, histiocytes, and giant cells. Fite stain was positive, which confirmed the cytological diagnosis of ENL.

Deregulation impacts AMR business cases

Energy Technology Data Exchange (ETDEWEB)

Wiebe, M.; Fauth, G.

2001-09-01

Meter reading strategy is being affected in fundamental ways by deregulation. For the utilities attempting to cope with meter reading unbundling, the processes, insights and general rules that had been developed prior to 2000 in the field of Automatic Meter Reading can no longer be relied upon to provide useful lessons. The fundamental impact on Automatic Meter Reading (AMR) business case drivers and the increasing complexity of building the business case model result from deregulation and unbundling. More and more, management has come to rely on rigorous business case analysis to compensate for the magnitude of AMR projects on the utility and the scarcity of financial resources. One can now expect the Chief Financial Officer and the Vice President Finance to become active players on AMR project teams in the fields of business case scrutiny and approval. Increasingly, the normal expertise of AMR personnel does not suffice to build a business case acceptable to finance. The financial and economic analysis skills required are ever more complex.

Intrahepatic splenosis: a case report

International Nuclear Information System (INIS)

Pekkafali, Zekai; Karsli, Fevzi A.; Silit, Emir; Basekim, Cinar C.; Mutlu, Hakan; Kizilkaya, Esref; Narin, Yavuz

2002-01-01

Splenosis is heterotopic autotransplantation and seeding of splenic tissue. In the literature, only a few cases of splenosis involving the liver and the radiologic characteristics of these lesions have been reported. We report a case of intrahepatic splenosis diagnosed by ultrasound, computed tomography, magnetic resonance imaging and scintigraphic features. To our knowledge, our patient is the first case diagnosed only by radiologic and radionuclide examination without any intervention. (orig.)

Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension.

Science.gov (United States)

Porreca, Rosa M; Glousker, Galina; Awad, Aya; Matilla Fernandez, Maria I; Gibaud, Anne; Naucke, Christian; Cohen, Scott B; Bryan, Tracy M; Tzfati, Yehuda; Draskovic, Irena; Londoño-Vallejo, Arturo

2018-05-18

Telomere maintenance protects the cell against genome instability and senescence. Accelerated telomere attrition is a characteristic of premature aging syndromes including Dyskeratosis congenita (DC). Mutations in hRTEL1 are associated with a severe form of DC called Hoyeraal-Hreidarsson syndrome (HHS). HHS patients carry short telomeres and HHS cells display telomere damage. Here we investigated how hRTEL1 contributes to telomere maintenance in human primary as well as tumor cells. Transient depletion of hRTEL1 resulted in rapid telomere shortening only in the context of telomerase-positive cells with very long telomeres and high levels of telomerase. The effect of hRTEL1 on telomere length is telomerase dependent without impacting telomerase biogenesis or targeting of the enzyme to telomeres. Instead, RTEL1 depletion led to a decrease in both G-overhang content and POT1 association with telomeres with limited telomere uncapping. Strikingly, overexpression of POT1 restored telomere length but not the overhang, demonstrating that G-overhang loss is the primary defect caused by RTEL1 depletion. We propose that hRTEL1 contributes to the maintenance of long telomeres by preserving long G-overhangs, thereby facilitating POT1 binding and elongation by telomerase.

Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology.

Science.gov (United States)

Fogel, Alexander L; Hill, Sharleen; Teng, Joyce M C

2015-05-01

Significant developments in the use of mammalian target of rapamycin (mTOR) inhibitors (mTORIs) as immunosuppressant and antiproliferative agents have been made. Recent advances in the understanding of the mTOR signaling pathway and its downstream effects on tumorigenesis and vascular proliferation have broadened the clinical applications of mTORIs in many challenging disorders such as tuberous sclerosis complex, pachyonychia congenita, complex vascular anomalies, and inflammatory dermatoses. Systemic mTORI therapy has shown benefits in these areas, but is associated with significant side effects that sometimes necessitate drug holidays. To mitigate the side effects of systemic mTORIs for dermatologic applications, preliminary work to assess the potential of percutaneous therapy has been performed, and the evidence suggests that percutaneous delivery of mTORIs may allow for effective long-term therapy while avoiding systemic toxicities. Additional large placebo-controlled, double-blinded, randomized studies are needed to assess the efficacy, safety, duration, and tolerability of topical treatments. The objective of this review is to provide updated information on the novel use of mTORIs in the management of many cutaneous disorders. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Pathomorphological study on 106 autopsy cases of Thorotrast-related hepatic malignancies with comparison to non-Thorotrast-related cases

International Nuclear Information System (INIS)

Kojiro, Masamichi; Ito, Yuji

1989-01-01

The pathomorphological features of 106 autopsy cases of Thorotrast-related malignant tumours of the liver were studied and compared to those of non-Thorotrast-related cases. Among the 106 cases, 44 (41.5%) were cholangiocarcinoma, 42 (39.6%) were angiosarcoma, 17 (16.0%) were hepatocellular carcinoma, and three (2.8%) were double cancers. In contrast, in non-Thorotrast-related cases about 90% of the cases were hepatocellular and angiosarcoma was extremely rare. (author)