ABSTRACT
Objective To evaluate the clinical efficacy of liver transplantation in children with Alagille syndrome (ALGS). Methods Clinical data of 12 children with ALGS were collected and retrospectively analyzed. Clinical characteristics of children with ALGS, pathological characteristics of liver tissues, characteristics of liver transplantation, postoperative complications and follow-up of children with ALGS were analyzed. Results JAG1 gene mutation and typical facial features was present in all 12 children. Jaundice was the most common initial symptom, which occurred at 7 (3, 40) d after birth. Upon liver transplantation, the Z scores of height and body weight were calculated as -2.14 (-3.11, -1.83) and -2.32 (-3.12, -1.12). Five children developed severe growth retardation and 4 children with severe malnutrition. Eight of 12 children were diagnosed with cardiovascular abnormalities. Pathological examination showed that the lobular structure of the diseased livers of 4 children was basically maintained, and 8 cases of nodular liver cirrhosis in different sizes including 1 case of single early moderately-differentiated hepatocellular carcinoma. Three children were misdiagnosed with biliary atresia and underwent Kasai portoenterostomy. Eight children underwent living donor liver transplantation, three children underwent cadaveric donor liver transplantation (two cases of split liver transplantation and one case of cadaveric total liver transplantation), and one child underwent domino liver transplantation (donor liver was derived from a patient with maple syrup urine disease). during the follow-up of 30.0(24.5, 41.7) months, the survival rates of the children and liver grafts were both 100%. During postoperative follow-up, the Z scores of height and body weight were calculated as -1.24 (-2.11, 0.60) and -0.83 (-1.65, -0.43), indicating that the growth and development of the children were significantly improved after operation. Conclusions Liver transplantation is an efficacious treatment for children with ALGS complicated with decompensated cirrhosis, severe itching and poor quality of life. For children with ALGS complicated with cardiovascular abnormalities, explicit preoperative evaluation should be delivered, and consultation with pediatric cardiologists should be performed if necessary.
ABSTRACT
Background: Just about three decades ago (1976) congenital malformations comprised 8% of perinatal deaths, from available data and ranked fifth as a cause of perinatal mortality. But the trend is rapidly changing over the years. perinatal death was due to congenital malformation, is the second commonest cause. This changing trend over years warns us that with the control of nutritional and infectious diseases, congenital malformations will come to the forefront as it is in India. To find out the incidence of congenital anomalies in stillbirth. And the probable etiology of congenital anomalies.Methods: The study was conducted at Government Mohan Kumaramangalam Medical College Hospital, Salem in the year 2017 August- September 2018. Totally 5000 babies born of consecutive deliveries were taken for the study, over the period of one year. All mothers were interrogated within 48 Hours of delivery as per the proforma prepared, which contains the following particulars like, maternal and paternal age, consanguinity, detailed antenatal history with reference to exposure to teratogens, especially during 1st Trimester.Results: Of the five thousand consecutive deliveries 48 deliveries were multiple delivers and a number of stillbirths were 108. The incidence of congenital anomalies was 30.4 per 1000 live birth (152 cases). Major malformations were present in 20.8 per 1000 (104 cases) while minor malformations were 9.6 per 1000 (48 cases).Conclusions: Incidence of malformation were higher in preterm babies 6.31%. Incidence of malformations were higher in male babies, especially genitourinary system anomalies. Antenatal events in the 1st trimester like fever, drug intake could be implicated in the etiology of malformations especially neural tube defects in our study.
ABSTRACT
A incidência de doenças cardiovasculares (DCV) chega a ser duas vezes maior em pessoas vivendo com HIV/AIDS (PVHA) devido aos danos pró-inflamatório causado pelo vírus e efeitos tóxicos de antirretrovirais incluindo as dislipidemias. O objetivo deste trabalho foi acompanhar o risco de DCV e marcadores metabólicos em PVHA. Trata-se de estudo longitudinal realizado antes e após 12 meses de inicio de antirretrovirais. Coletou-se variáveis socioeconômicas, clínicas, antropométricas e laboratoriais, e calculou-se escores de Framingham e PROCAM. Utilizaram-se os testes de Wilcoxon, T-Student e Qui-Quadrado na comparação das variáveis. A amostra basal deste estudo foi composta por 91 PVHA. Desses, 85% eram homens com mediana de idade igual a 31 anos e 94,5% declararam não ter história pregressa de dislipidemias. Foi observado aumento nos níveis de colesterol total (p0,05). Portanto, para a definição de risco real de DCV nesta população temos que considerar a inclusão de outras variáveis como alguns biomarcadores e, ainda, a mensuração ultrassonográfica da camada íntima carotídeas. Sendo assim, o cuidado compartilhado com outras áreas da saúde como nutricionistas e educadores físicos visando estimular a mudança de estilo de vida, pode qualificar o acompanhamento de PVHA reduzindo a incidência de eventos não infecciosos. (AU)
The incidence of cardiovascular disease (CVD) is up to twice as high in people living with HIV / AIDS (PLWHA) because of the proinflammatory damage caused by the virus and antiretroviral toxicities including dyslipidemias. The objective of this study was to monitor the risk of CVD and metabolic markers in PLWHA. This is a longitudinal study before and after 12 months of antiretroviral beginning. They were collected socioeconomic, clinical, anthropometric and laboratory variables, and calculated scores of Framingham and PROCAM. They used the Wilcoxon paired tests, T-Student and Chi-square partition in the comparison of variables. The baseline sample was composed of 91 PLWHA. Of these, 85% were male with median age 31 years and 94.5% did not have a history of dyslipidemia. There was an increase in total cholesterol levels (p 0.05). Therefore, to define real risk of CVD in this population we have to consider the inclusion of other variables as some biomarkers, and also ultrasound measurement of carotid intima layer. Thus, the shared care with other health areas as physical nutritionists and educators to stimulate the change of lifestyle, can qualify PLWHA monitoring reducing the incidence of non-infectious events. (AU)