RESUMO
Down syndrome (DS) is the most common autosomal chromosome anomaly. DS is frequently associated with congenital heart disease (CHD). Patients with DS have 40-60% chance of having CHD. It means that CHD in DS is not only due to trisomy 21 and there are some other genetic factors underlying CHD in DS children. In this study, a total of 240 DNA samples from patients were analyzed including 100 patients with CHD only, 110 patients having CHD along with DS and 30 patients with isolated DS. A cardiovascular gene panel consisting of probes for 406 genes was used to screen DNA samples of all 240 patients for mutation identification. All variants were annotated and common variants were obtained. Briefly, 28 common variants (variants common in two or more than two individuals) were obtained in a group of samples containing DNA from DS patients having CHD as well, 63 variants were found to be unique to DS group of samples and 73 variants have been identified in patients with CHD only. In order to identify genomic variations determining the risk for CHD in DS, only those variants present in DS-CHD group and absent in isolated CHD and/or isolated DS group were considered for further analysis. Variants specific to DS-CHD group were further evaluated based on expression and function data and pathogenicity of the variant of interest. We have implicated mutations in GATA3, KCNH2, ENG, FLNA, and GUSB genes as an underlying risk factor for CHD in DS patients.
Assuntos
Síndrome de Down/complicações , Cardiopatias Congênitas/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Síndrome de Down/genética , Feminino , Predisposição Genética para Doença , Cardiopatias Congênitas/complicações , Humanos , Masculino , Mutação , FenótipoRESUMO
INTRODUCTION: Environmental tobacco smoke (ETS) is associated with several congenital anomalies, including non-syndromic orofacial clefts (NSOFCs). This systematic review aimed to update the literature on the association between ETS and NSOFCs. METHODS: Four databases were searched up to March 2022, and studies that evaluated the association between ETS and NSOFCs were selected. Two authors selected the studies, extracted the data, and evaluated the risk of bias. Comparing the association of maternal exposure to ETS and active parental smoking with NSOFCs allowed for the creation of pooled effect estimates for the included studies. RESULTS: Twenty-six studies were deemed eligible for this review, of which 14 were reported in a previous systematic review. Twenty five were case-control studies, and one was a cohort study. In total, these studies included 2142 NSOFC cases compared to 118129 controls. All meta-analyses showed an association between ETS and the risk of having a child with NSOFC, based on the cleft phenotype, risk of bias, and year of publication, with a pooled increased odds ratio of 1.80 (95% CI: 1.51-2.15). These studies had a marked heterogeneity, which decreased upon subgrouping based on the recent year of publication and the risk of bias. CONCLUSIONS: ETS exposure was associated with more than a 1.5-fold increase in the risk of having a child with NSOFC, showing a higher odds ratio than paternal and maternal active smoking. TRIAL REGISTRATION: The study is registered on the International Prospective Register of Systematic Reviews database # CRD42021272909.
RESUMO
OBJECTIVES: We studied these predictors at a single cardiac center. Methods: A retrospective cohort study was carried out after obtaining approval from the institutional review board. All patients (age, 0-14 years) who underwent congenital heart disease (CHD) surgery from January 2014 to June 2016 were included. Prolonged mechanical ventilation (PMV) was defined as greater than 72 hours of ventilation. Results: A total of 257 patients were included, among whom 219 (85.2%) were intubated for greater than 72 hours and 38 (14.8%) were intubated for ≥72 hours. Age (29.9 versus 11.95 years), weight (9.6 versus 5.9 kg), cross-clamp time (CCT) (53.6 versus 71.8 min), cardiopulmonary bypass time (CBP) (80.98 versus 124.36 min), length of stay in the pediatric intensive care unit (PICU) (10.4 versus 27.2 days), infection (12.8% versus 42.1%), open sternum (0.9% versus 13.2%), re-intubation (19.2% versus 39.5%), pulmonary hypertension (10.9% versus 31.6%), and impaired heart function (10.1% versus 23.7%) were associated with PMV. In terms of Risk Adjustment in Congenital Heart Surgery (RACHS) classification, only patients with RACHS 4 (18.4%) were associated with the risk for PMV. Conclusions: Age, weight, CBP, CCT, pulmonary hypertension, impaired cardiac function, and sepsis are risk factors for PMV. These factors should be considered when deciding surgery and in providing PICU care.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Cardiopatias Congênitas/cirurgia , Respiração Artificial/efeitos adversos , Adolescente , Fatores Etários , Peso Corporal , Ponte Cardiopulmonar , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Hipertensão Pulmonar , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Pediátrica/estatística & dados numéricos , Tempo de Internação , Masculino , Duração da Cirurgia , Estudos Retrospectivos , Fatores de Risco , Sepse , Fatores de TempoRESUMO
Cardiomyopathy in infants is characterized by heart failure in apparently normal children without previous organic cardiac lesions. Cardiomyopathy has been found to comprise four types. Rickets is common in Saudi Arabia, that is why I reviewed this subject. Recently this case with classical features of rickets being admitted in a serious state we thought of publishing it. The infant responded well to treatment and full recovery was achieved. Follow up biochemistry, radiology cardiac function completely recovered and bony abnormalities showed evidence of healing. This case might have been missed as respiratory infection. We recommend meticulous look for biochemical features of rickets in infants admitted with respiratory symptoms.
RESUMO
UNLABELLED: Hypocalcemic cardiomyopathy in infants is characterized by heart failure in a previously normal infant with hypocalcemia without organic cardiac lesion. Vitamin D deficiency rickets is increasing in Middle East. In a six month study 136 cases of rickets were diagnosed in the main Children's Hospital in Almadinah but none of them showed evidence of cardiomyopathy. Concerned of missing this serious complication of rickets we searched pub med and present this review article. RESULTS: 61 cases of hypocalcemic cardiomyopathy were reported as case reports with two series of 16 and 15 cases from London and Delhi, respectively. The major features of these cases: the age ranged from one month to 15 months with a mean age of 5 months. All presented with heart failure and hypocalcemia. There was a minor feature of rickets in a few of the cases. All had high alkaline phosphatase. Echocardiology evidence of cardiomyopathy was found in all. Most of them responded to calcium, vitamin D and cardiotonic and diuretics. DISCUSSION: We concentrated on pathogenesis of this hypocalcemic cardiomyopathy and reviewed the literature. The evidence available supports that the most likely cause of cardiomyopathy is hypocalcemia. Hypovitamin D also contributes but hyperparathyroidism might have a protective role as we did not detect any evidence of cardiomyopathy with hyperparathyroidism and florid features of rickets. CONCLUSION: We need to look out for cardiomyopathy among infants with hypocalcemia. For prevention maternal supplementation during pregnancy and lactation with up to 2000 units of vitamin D and 400 units for their infants.