RESUMO
A young man was found to have multiple synostosis syndrome type I after presenting with a neck injury causing a cervical spinal cord contusion. Neurological symptoms and signs suggested spinal cord compression. Magnetic resonance (MR) and computerized tomography (CT) imaging of the spine showed spinal canal stenosis with cord compression at C3-C6, a deformed spinal canal flattened in the anteroposterior dimension, vertebral fusions and deformed lateral processes of the vertebrae. He had a long broad nose with hypoplasia of the alae nasi, conductive hearing loss requiring hearing aids, muscular build, stiff spine, prominent acromia, pectus excavatum, ischial prominences, short fifth fingers, fusion at the proximal interphalangeal joints of the fifth fingers with indistinct overlying creases, and toe syndactyly. Spinal cord stenosis is a serious complication of multiple synostosis syndrome, that should be kept in mind in considering the risk of neck or back injury associated with certain sports or other activities. In both the multiple synostosis syndrome and the less severe proximal symphalangism deafness syndrome, mutations have been detected in the human homologue of the noggin gene on chromosome 17q21-q22.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Coluna Vertebral/anormalidades , Sinostose/diagnóstico , Sinostose/genética , Adulto , Cromossomos Humanos Par 17 , Diagnóstico Diferencial , Fácies , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Doenças do Sistema Nervoso/diagnóstico , Compressão da Medula Espinal/diagnóstico , Compressão da Medula Espinal/genética , Compressão da Medula Espinal/patologia , Coluna Vertebral/patologia , Síndrome , Tomografia Computadorizada por Raios XRESUMO
This paper reports a case of fatal perhexiline maleate liver injury. A 62-year-old man had received perhexiline maleate for 18 months before death. Hepatic failure developed after a routine surgical procedure. The clinical course and histological findings are presented.
Assuntos
Doença Hepática Induzida por Substâncias e Drogas , Perexilina/efeitos adversos , Piperidinas/efeitos adversos , Angina Pectoris/tratamento farmacológico , Angina Pectoris/enzimologia , Humanos , Fígado/enzimologia , Fígado/patologia , Cirrose Hepática Alcoólica/enzimologia , Cirrose Hepática Alcoólica/patologia , Hepatopatias/enzimologia , Hepatopatias/mortalidade , Masculino , Pessoa de Meia-Idade , Osteoartrite/enzimologia , Osteoartrite/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/mortalidade , Transaminases/sangueRESUMO
In 7 healthy subjects theophylline and antipyrine elimination were determined before and during a course of oral cimetidine in a dose of 1 g/day. Plasma clearance of theophylline was reduced from 71.2 +/- 10.1 ml/min to 56.0 +/- 18.5 ml/min and the plasma clearance of antipyrine from 53.7 +/- 14.2 ml/min to 48.1 +/- 11.7 ml/min. Elimination half-life of theophylline was prolonged from 5.1 +/- 1.6 to 8.1 +/- 1.4 h. All these changes were statistically significant. Volume of distribution of theophylline (31.7 +/- 8.4 L before and 39.2 +/- 5.6 L during cimetidine administration) and plasma binding of theophylline (44.7 +/- 3.8% before and 44.3 +/- 3.1% during cimetidine administration) were not significantly different. Similarly, volume of distribution of antipyrine (45.8 +/- 14.0 vs. 47.6 +/- 17.9) was not significantly affected by cimetidine administration. We conclude that cimetidine impairs the elimination of theophylline and antipyrine in healthy subjects.
Assuntos
Antipirina/metabolismo , Cimetidina/farmacologia , Guanidinas/farmacologia , Teofilina/metabolismo , Adulto , Sinergismo Farmacológico , Feminino , Humanos , Cinética , Masculino , Pessoa de Meia-IdadeRESUMO
A neonate is reported here, who was born with severe mandibular hypoplasia, complete absence of the tongue, unilateral choanal atresia, contralateral choanal stenosis and developed severe airway obstruction at birth. Arrested development of the ventral first branchial arch most likely underlies the clinical deficits. Most reported cases of agnathia have been lethal but the infant reported here has survived into infancy with a tracheostomy and feeding gastrostomy. Her clinical features, assessment and management are discussed.