RESUMO
UNLABELLED: A preterm baby born with scaly skin who later developed recurrent infections and was subsequently diagnosed to have Omenn syndrome is presented. CONCLUSION: Any baby with ichthyotic skin and recurrent infections should have immunodeficiency considered in the differential diagnosis.
Assuntos
Dermatite Esfoliativa , Recém-Nascido Prematuro , Imunodeficiência Combinada Severa , Agamaglobulinemia , Eosinofilia , Insuficiência de Crescimento , Feminino , Humanos , Recém-Nascido , Infecções , Doenças Linfáticas , Linfocitose , SíndromeRESUMO
An infant with a 46XY karyotype was born with ambiguous genitalia, including microphallus and perineal hypospadias. A female gender was assigned due to extreme failure of development of the external genitalia. Subsequent investigations demonstrated panhypopituitarism, and it is believed that severe gonadotrophin deficiency was responsible for the intersex state. This case illustrates the need to evaluate the hypothalamic-pituitary axis in selected cases of intersex, and also questions the prevailing assumption that testosterone secretion during embryogenesis is largely pituitary gonadotrophin independent, under the control of human chorionic gonadotrophin.
Assuntos
Transtornos do Desenvolvimento Sexual/etiologia , Hipopituitarismo/complicações , Genitália/anormalidades , Gonadotropinas Hipofisárias/deficiência , Humanos , Recém-Nascido , Cariotipagem , MasculinoRESUMO
OBJECTIVE: To investigate the clinical effects of regulating umbilical cord clamping in preterm infants. DESIGN: A prospective randomised study. SETTING: The Queen Mother's Hospital, Glasgow. SUBJECTS: 36 vaginally delivered infants over 27 and under 33 weeks' gestation. INTERVENTION: Holding the infant 20 cm below the introitus for 30 seconds before clamping the umbilical cord ("regulated" group, 17 patients), or conventional management ("random" group, 19 patients). MAIN OUTCOME MEASURES: Initial packed cell volume, peak serum bilirubin concentrations, red cell transfusion requirements, and respiratory impairment (assessed by ventilatory requirements, arterial-alveolar oxygen tension ratio over the first day in ventilated infants, and duration of dependence on supplemental oxygen). RESULTS: There were statistically significant differences between the two groups in mean initial packed cell volume (regulated group 0.564, random group 0.509) and median red cell transfusion requirements (regulated group zero, random group 23 ml/kg). 13 infants from each group underwent mechanical ventilation and showed significant differences in mean minimum arterial-alveolar oxygen tension ratio on the first day (regulated group 0.42, random group 0.22) and in median duration of dependence on supplemental oxygen (regulated group three days, random group 10 days). Differences in final outcome measures such as duration of supplemental oxygen dependence and red cell transfusion requirements were mediated primarily through arterial-alveolar oxygen tension ratio and also packed cell volume. CONCLUSIONS: This intervention at preterm deliveries produces clinical and economic benefits.
Assuntos
Recém-Nascido Prematuro/sangue , Cordão Umbilical , Bilirrubina/sangue , Peso ao Nascer , Transfusão de Componentes Sanguíneos , Constrição , Idade Gestacional , Humanos , Recém-Nascido , Cuidado Pós-Natal , Respiração Artificial , Fatores de Tempo , Resultado do TratamentoRESUMO
A 3 year old girl presented with Budd-Chiari syndrome of acute onset, and hepatic encephalopathy secondary to intravascular extension of a Wilms' tumour shown on echocardiography. After a period of intensive medical treatment the tumour was removed, cardiopulmonary bypass with hypothermic circulatory arrest being necessary. Her hepatic failure resolved and she made a complete neurological recovery.
