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- Epilepsia e gravidez: que conduta? A propósito de um caso clínicoPublication . Rodrigues, CT; Branco, M; Ferreira, I; Estanqueiro, P; Vicente, T; Santos-Silva, I; Couceiro, A; Ramos, C
- Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiencyPublication . Gonçalves, J; Friães, A; Moura, LCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 90% of cases are caused by 21-hydroxylase deficiency, and the severity of the resulting clinical symptoms varies according to the level of 21-hydroxylase activity. 21-Hydroxylase deficiency is usually caused by mutations in the CYP21A2 gene, which is located on the RCCX module, a chromosomal region highly prone to genetic recombination events that can result in a wide variety of complex rearrangements, such as gene duplications, gross deletions and gene conversions of variable extensions. Molecular genotyping of CYP21A2 and the RCCX module has proved useful for a more accurate diagnosis of the disease, and prenatal diagnosis. This article summarises the clinical features of 21-hydroxylase deficiency, explains current understanding of the disease at the molecular level, and highlights recent developments, particularly in diagnosis.
- A evolução do refluxo vesico-ureteral com diagnóstico perinatalPublication . Leitão, H; Correia, AJ; Gomes, C; Simões, O; Rolo, V; Mimoso, G; Ramos, C
- Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosisPublication . Soares, R; Neto, P; Pereira, N; Cunha, C; Pinto, C; Fonseca, M; Ramos, L; Galhano, EDilated fetal bowel is a sonographic fi nding that is associated to meconium ileus, a feature of cystic fi brosis (CF). Prenatal diagnosis of CF is possible through analysis of the cystic fi brosis transmembrane regulator gene mutations. A male infant is described, who was referred to our Prenatal Diagnosis Center a 17th week of gestation with a dilated bowel loop on a prenatal scan. Amniocentesis was performed at 23rd week gestation and a homozygous F508del mutation was found. He was born at 38 weeks gestation, after an otherwise unremarkable pregnancy, and admitted to Neonatal Intensive Care Unit. He showed progressive abdominal distension without stools and was transferred to another Hospital to surgery. A total occlusion of terminal ileum with meconium and a microcolon were found, and resection of 8 cm of ileum and an ileostomy were performed. The characteristic sonographic fi nding of a dilated bowel is an indication to search for CF mutations.
- Metabolic factors in obesityPublication . Brito, N; Fonseca, M; Dinis, I; Mirante, AObesity has a rising prevalence in children and adolescents, affecting 30% of the paediatric population in Portugal. Leptin is an important hormone involved in the pathogenesis of obesity and has been under investigation as a risk marker for future complications. AIMS: 1. To evaluate the relation between serum leptin levels and body mass index (BMI) and height. 2. To compare leptin levels in obese and non-obese children. 3. To evaluate the relation between leptin levels and insulin resistance index. METHODS: Cross-sectional study, using a sample of 70 obese children and a control group of 53 non-obese children. Obesity was defined as BMI standard deviation > 2 for age and sex. In the obese group we assessed sex, age, BMI SDS and height SDS for age and sex, and serum levels of glucose, insulin and leptin. In the control group were obtained BMI SDS and height SDS for age and sex and leptin levels. Data were analysed using SPSS 12. RESULTS: The mean age of obese and non-obese children was 10.3 +/- 2.9 versus 10.9 +/- 3.5 years. In the obese group, 32 (45.7%) were boys versus 18 (31.0%) in the non-obese group. BMI SDS in the obese group was 3.12 +/- 0.60 versus 0.20 +/- 0.99 in the non-obese group (p < 0.001). Leptin levels showed a positive correlation with BMI SDS (r = 0.69; p < 0.001) and height SDS (r = 0.31; p < 0.001). When comparing leptin levels between obese and non-obese groups, we found a significant difference in boys (50.7 +/- 27.3 versus 7.0 +/- 6.8 ng/ml; p < 0.001) and in girls (57.6 +/- 25.5 versus 16.5 +/- 10.3 ng/ml; p < 0.001). In the nonobese group, leptin levels were lower in boys. This difference was not seen in the obese group. Leptin showed a positive correlation with insulin resistance index in boys (r = 0.45, p = 0.05), but not in girls. CONCLUSIONS: This study has confirmed a positive correlation between leptin levels and BMI SDS. In obese children elevated leptin is associated with central resistance to its action. The positive correlation of leptin with insulin resistance index may suggest a major role of leptin in insulin resistance.
- Severe intracranial haemorrhage in neonatal alloimmune thrombocytopeniaPublication . Silva, F; Morais, S; Sevivas, T; Veiga, R; Salvado, R; Taborda, ANeonatal alloimmune thrombocytopenia is a rare (1/1000-5000 births) life-threatening disorder, caused by fetomaternal incompatibility for a fetal human platelet alloantigen inherited from the father, with production of maternal alloantibodies against fetal platelets, leading to severe thrombocytopenia and potential bleeding. Intracranial haemorrhage is the most feared complication. This report presents the case of a term newborn infant, born from caesarean section after a normal pregnancy, presenting signs of skin bleeding with different ages. Obstetric history included a previous spontaneous abortion after amniocentesis. Severe thrombocytopenia (4×10(9)/l platelets) was found and brain ultrasound showed multiple intracranial haemorrhages. Human platelet antigen (HPA) phenotyping showed maternal negative HPA-1a and paternal positive HPA-1a platelets. Strongly positive anti-HPA-1a and weakly positive anti-human leukocyte antigen class I alloantibodies were found in the mother. Multiple platelet transfusions, intravenous immunoglobulin and corticosteroid were given but favourable response was accomplished only after a compatible platelet transfusion. Brain MRI showed multiple subacute and chronic haemorrhages.
- Hodgkin's lymphoma and late onset egg allergy: is there a causal relationship?Publication . Calado, G; Machado, D; Ribeiro, C; Loureiro, G; Tavares, B; Pereira, C; Cunha, R; Chieira, C
- Lessons from monochorionic twin deliveryPublication . Ferreira, SA; Januário, GM; Pereira, DF; Santos-Silva, I; Negrão, FThe presence of acute peripartum anaemia in a monochorionic twin pregnancy represents a clinical challenge requiring prompt recognition and management. Twin-to-twin transfusion syndrome (TTTS) is a major complication of these pregnancies and a medical emergency in its acute form. Acute intrapartum fetoplacental transfusion (AIFT) has been reported infrequently. The authors present a case of a probable acute TTTS in an uneventful monochorionic monoamnionic twin pregnancy, where typical ultrasound criteria for long-standing TTTS were absent. The first twin was born pale, hypotonic and developed hypovolemic shock due to acute anaemia. Soon after birth, she presented with seizures and a cerebral ultrasound detected a large parieto-occipital infarction. The second twin, although plethoric, was clinically well. The risk of acute TTTS and AIFT, although infrequent and unpredictable, should be kept in mind when planning delivery of monochorionic twins, because the consequences for one or both twins can be disastrous.
- Plagiocefalia posicional: como actuar?Publication . Brett, A; Cordinhã, C; Faria, D; Mimoso, G; Salgado, M
- Síndrome de Hanhart – caso clínicoPublication . Rios, H; Carnide, C; Morais, S; Branco, M; Mesquita, J; Galhano, E; Ramos, LIntrodução: Em 1950 Hanhart descreveu três casos de aglossia e deformidades dos membros. A associação de malformações oromandibulares e dos membros é rara, veriÞcando -se grande variabilidade fenotípica entre os casos descritos. Caso Clínico: Gravidez com diagnóstico pré -natal ecográ-Þ co (24 semanas) de agenesia do pé direito, ausência do primeiro dedo do pé esquerdo e presença apenas da primeira falange do primeiro e quinto dedos da mão esquerda. Às 38 semanas de gestação nasce um recém -nascido, sexo masculino, com hipotonia generalizada e diÞ culdade respiratória com necessidade de manobras de reanimação. Ao exame físico destacava -se a presença de microretrognatia, microstomia e várias malformações ósseas a nível das mãos e pés. Desde as primeiras horas de vida que apresentou quadro de apneias com dessaturações recorrentes vindo a falecer na decorrência de um desses episódios. Discussão: A associação de microstomia, microretrognatia, hipoglossia, malformações dos membros e atingimento dos pares cranianos, permite -nos estabelecer o diagnóstico clínico de Síndrome de Hanhart. O seu diagnóstico nem sempre é fácil,dada a grande variabilidade fenotípica.