Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene

Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs' anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs' anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TCAP gene, already described in Brazilian patients

INDOOR AIR TEMPERATURE DISTRIBUTION AN ALTERNATIVE APPROACH TO BUILDING SIMULATION

The current paper presents a model to predict indoor air temperature distribution. The approach is based on the energy conservation equation which is written for a certain number of finite volumes within the flow domain. The magnitude of the flow is estimated from a scale analysis of the momentum conservation equation. Discretized two or three-dimensional domains provide a set of algebraic equations. The resulting set of non-linear equations is iteratively solved using the line-by-line Thomas Algorithm. As long as the only equation to be solved is the conservation of energy and its coefficients are not strongly dependent on the temperature field, the solution is considerably fast. Therefore, the application of such model to a whole building system is quite reasonable. Two case studies involving buoyancy driven flows were carried out and comparisons with CFD solutions were performed. The results are quite promising for cases involving relatively strong couplings between heat and airflow

SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life. Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. The electrodiagnostic study revealed a pure chronic motor peripheral nerve involvement without signs of demyelination. The molecular study found the deletion c.561_576del on exon 4 and a deletion of all exon 4, in the SIGMAR1 gene.info:eu-repo/semantics/publishedVersio

Neonatal sepsis – a retrospective analysis 2004 to 2006 of Bissaya Barreto Maternity

Introdução: As doenças infecciosas são uma causa frequente de morbi- -mortalidade no período neonatal. O conhecimento da epidemiologia de cada unidade é um factor decisivo para o sucesso da antibioterapia empírica. Objectivos: Caracterizar os episódios de sépsis neonatal (SNN) ocorridos de Janeiro de 2004 a Dezembro de 2006 na Unidade de Cuidados Intensivos Neonatais (UCIN) da Maternidade Bissaya Barreto. Material e métodos: Estudo descritivo retrospectivo dos processos clínicos dos recém-nascidos com o diagnóstico de SNN. Definiu-se sépsis com confirmação laboratorial se dois ou mais critérios clínicos compatíveis, associados a um dos seguintes critérios laboratoriais: a) identificação de qualquer agente patogénico bacteriano na hemocultura ou no líquor cefalo-raquídeo; b) identificação de Staphylococcus coagulase negativo na presença de proteína C reactiva >2,0 mg/dl ou plaquetas <100.000/μl ou relação neutrófilos imaturos / neutrófilos totais >0,2. Definiu-se sépsis clínica quando se verificou: instituição de terapêutica antibiótica durante 5 dias, hemocultura negativa ou não pedida, ausência de infecção noutro local e dois ou mais critérios clínicos compatíveis. No caso de sépsis clínica deveria haver pelo menos também um dos seguintes: proteína C reactiva >2,0 mg/dl; leucócitos >30.000 ou <5.000/μl; relação neutrófilos imaturos / neutrófilos totais >0,2; plaquetas <100 000/μl. Considerou-se SNN precoce ou tardia, respectivamente se início até ou após as 72 horas de vida. Resultados: Cumpriram critérios de inclusão 61 episódios infecciosos (16 precoces e 45 tardios), correspondendo a 58 recém-nascidos. Destes, 50% apresentavam peso de nascimento inferior a 1500 gramas. A idade gestacional variou entre as 25 e as 41 semanas, com mediana de 30 semanas. Da amostra considerada, 45 (73,8%) foram sépsis com confirmação laboratorial e 16 (26,2%) foram sépsis clínicas. Os gérmens isolados foram 26 (57,8%) Staphylococcus coagulase negativos – 17 (37,8%) Staphylococcus epidermidis, 9 (20,0%) outros Staphylococcus coagulase negativos; 9 (20,0%) Escherichia coli; 6 (13,3%) Staphylococcus aureus; 2 (4,4%) Streptococcus do grupo B; 1 (2,2%) Proteus mirabilis; 1 (2,2%) Cândica albicans.A percentagem de resistências da Escherichia coli à ampicilina foi de 77,8%. Houve dois Staphylococcus aureus meticilino-resistentes, ambos sensíveis à vancomicina. Faleceram 6 recém-nascidos com SNN. Comentários: Os nossos resultados estão de acordo com os estudos nacionais e internacionais sobre SNN, salientando-se contudo o diminuto número de Streptococcus do grupo B isolados e o maior número de Escherichia coli, com uma elevada percentagem de estirpes ampicilino- resistentes. A mortalidade relacionada com a SNN encontra-se dentro dos dados referidos na literatura