RESUMO
Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy.
RESUMO
INTRODUCTION: Perinatal asphyxia is a major cause for neonatal mortality and morbidity around the world. The reduction of O2 results in the generation of reactive oxygen species which interact with nucleic acid and make alteration in the structure and functioning of the genome. We studied the effect of therapeutic hypothermia on chromosomes with karyotyping. SUBJECTS AND METHODS: Babies in the hypothermia group were cooled for the first 72 h, using gel packs. Rectal temperature of 33-34°C was maintained. Blood sample was collected after completion of therapeutic hypothermia for Chromosomal analysis. It was done with IKAROS Karyotyping system, Metasystems, based on recommendations of International system of human cytogenetic nomenclature. RESULTS: The median chromosomal aberration was lower in hypothermia [2(0-5)] than control group [4(1-7)] and chromatid breakage was commonest aberration seen. Chromosomal aberration was significantly higher in severe encephalopathy group than moderate encephalopathy group. CONCLUSION: We conclude that the TH significantly reduces DNA damage in perinatal asphyxia.
RESUMO
OBJECTIVE: To study the effect of therapeutic hypothermia (TH) on deoxyribonucleic acid (DNA) damage and the neurodevelopmental outcome in term babies with perinatal asphyxia. METHODS: Babies in the hypothermia group were cooled for the first 72 h, using gel packs. Rectal temperature of 33-34°C was maintained. Blood sample was collected before, at 36 h and after completion of TH for assessment of comet assay and 8-hydroxy2-deoxyguanosine (8-OHdG). Infants were followed up till 12 months. RESULTS: Baseline parameters were similar. After 72 h, the hypothermia group showed lower olive tail moment (12.88 ± 2.14) than the control group (22.16 ± 5.26) (p < 0.001). 8-HDG levels increased significantly in the control group (1252.87 ± 357.07) as compared to the hypothermia group (757.03 ± 198.49) (p < 0.001). Neurodevelopmental assessment at 12 months showed significantly low motor and mental developmental quotient in the control than hypothermia group. CONCLUSIONS: TH reduces oxidative stress-induced DNA damage and improves neurodevelopmental outcome.
Assuntos
Asfixia Neonatal/terapia , Dano ao DNA , Deficiências do Desenvolvimento/etiologia , Hipotermia Induzida/métodos , Hipóxia-Isquemia Encefálica/terapia , Estresse Oxidativo/fisiologia , Adulto , Asfixia Neonatal/complicações , Ensaio Cometa , Desoxiguanosina , Deficiências do Desenvolvimento/prevenção & controle , Feminino , Seguimentos , Hospitais de Ensino , Humanos , Hipotermia Induzida/efeitos adversos , Hipóxia-Isquemia Encefálica/complicações , Índia , Lactente , Recém-Nascido , Masculino , Índice de Gravidade de Doença , Método Simples-Cego , Resultado do TratamentoAssuntos
Pneumoperitônio/diagnóstico , Escroto/patologia , Ar , Humanos , Recém-Nascido , Masculino , Pneumoperitônio/cirurgia , Escroto/cirurgia , TransiluminaçãoAssuntos
Candidíase/patologia , Hiperpigmentação/microbiologia , Hiperpigmentação/patologia , Doenças do Recém-Nascido/microbiologia , Doenças do Recém-Nascido/patologia , Candidíase/mortalidade , Humanos , Hiperpigmentação/mortalidade , Recém-Nascido , Doenças do Recém-Nascido/mortalidade , Recém-Nascido de muito Baixo PesoAssuntos
Hemangioma/congênito , Linfangioma Cístico/congênito , Neoplasias da Língua/congênito , Hemangioma/diagnóstico , Hemangioma/tratamento farmacológico , Humanos , Recém-Nascido , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/tratamento farmacológico , Masculino , Neoplasias da Língua/diagnóstico , Neoplasias da Língua/tratamento farmacológicoRESUMO
Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of the condition.
Assuntos
Anormalidades Craniofaciais/diagnóstico , Cardiopatias Congênitas/diagnóstico , Osteocondrodisplasias/congênito , Deficiências do Desenvolvimento/diagnóstico , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Osteocondrodisplasias/diagnósticoRESUMO
A 6 year old girl woke up with pain and increasing swelling over the left hand and difficulty in breathing. On examination, she had swelling of the left forearm and hand, flaccid quadriparesis and was in respiratory failure requiring mechanical ventilation. Two clean puncture wounds were identified on the left thumb. A provisional diagnosis of snake bite with severe envenomation was made and she was given anti snake venom therapy. Over a period of about 4 hours her weakness progressed. She became areflexic, developed internal and external ophthalmoplegia and loss of other brain stem reflexes mimicking brain death. Mechanical ventilation was continued despite features suggestive of brain stem dysfunction. About 36 hours after ventilation she showed a flicker of movement of her fingers and gradually the power improved. She was weaned off the ventilator and extubated after 5 days. External ophthalmoplegia is an established association with cobra envenomation, but, this combination of internal and external ophthalmoplegia can mimic brain death and pose a dilemma to the caregivers regarding continuation of therapy.