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Background and objectives: Cleft defects are among the most visible congenital defects worldwide and congenital heart disease (CHD) being one of the most common associated anomalies. This study aimed to assess the prevalence of CHD among a cohort of Sudanese patients with cleft lip and/or palate. Patients and Methods: All patients who presented to Soba University Hospital with cleft lip and/or palate from March 2009 to March 2015 were included. Results:Out of 381 patients included; 168 patients (44%) had cleft lip and palate (CLP), 156 (41%) had cleft lip (CL) and isolated cleft palate (CP) was found in 57 patients (15%). Facial dysmorphic features were identified in 57 (15%) and cardiac defects in 42 (11%) patients. Ventricular septal defect (VSD) was diagnosed in 16 patients (38%), and ASD in 12 (30.9%). Other macroscopic anomalies were identified in 57 patients (15%) and were associated with CHD (P<0.001). Significant association was found between the type of cleft and CHD (P<0.002), as cardiac defects were maximally observed among CP cases (21%) followed by CLP cases (13%) then CL cases (5.12%). Significant association was also found between facial dysmorphic occurrence and CHD (P < 0.001). Conclusion: CHD is a common anomaly in cleft population. The pattern of CHD is consistent with the literature with VSD being the most frequent. The cardiac defects are most prevalent in CP group. Echocardiography is justified for screening of CHD due to the relatively higher incidence of CHD among clefts patients than in general population
Assuntos
Efeito de Coortes , Doença , Cardiopatias Congênitas , SudãoRESUMO
BACKGROUND:Parkinson's disease (PD); with a prevalence of up to 4% in Western countries; appears to be less common in Africa; possibly in part because of genetic factors. African studies investigating the genetic causation of PD are limited. OBJECTIVE:To describe the clinical and genetic findings in a group of black South African patients with PD.METHODS:All black African patients with PD from a tertiary hospital neurology clinic were examined. Symptoms were scored according to the Unified Parkinson's Disease Rating Scale (UPDRS); and patients were classified according to motor features. Genomic DNA was extracted and multiplex ligation-dependent probe amplification was used for detection of copy number variation (CNV) mutations in the known PD-causing genes.RESULTS:Sixteen patients were identified (ages 56 - 82 years). Three had a family history of PD. Classification into motor subtypes showed 44% mixed; 31% akinetic-rigid; and 25% tremor-dominant subtypes. UPDRS scores ranged from 7 to 88; with dementia in 20%. No patient had G2019S LRRK2 and A30P SNCA mutations; and all except one had no CNV mutations in the known PD-causing genes. A female patient (age of onset 50 years; no family history) had a parkin gene heterozygous deletion of exon 4. She had hyperreflexia; bilateral Hoffmann's reflexes; normal plantar responses and no dystonia.CONCLUSION:This group of black African patients showed similar characteristics to patients in Western studies; possibly with a higher proportion having tremor-dominant disease. Genetic analysis showed one parkin gene mutation. The limited knowledge on PD-causing genes and mutations in black populations warrants further studies involving next-generation sequencing approaches