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Fulltext More than meets the smile: facial muscle expression in children with Ochoa syndrome

Ganesan I, Thomas T

Med J Malaysia, 2011 Dec;66(5):507-9.
PMID: 22390114 MyJurnal

The Ochoa syndrome is the association of a non-neurogenic neurogenic bladder with abnormal facial muscle expression. Patients are at risk for renal failure due to obstructive uropathy. We report a family of three siblings, with an emphasis on the abnormalities in facial expression. Careful examination shows an unusual co-contraction of the orbicularis oculi and orbicularis oris muscles only when full facial expressions are exhibited, across a range of emotional or voluntary situations. This suggests a peripheral disorder in facial muscle control. Two thirds of patients have anal sphincter abnormalities. Aberrant organisation of the facial motor and urinary-anal sphincter nuclei may explain these symptoms.
Urological anomalies and chronic kidney disease in children with anorectal malformations

Ganesan I, Rajah S

Pediatr Nephrol, 2012 Jul;27(7):1125-30.
PMID: 22382467 DOI: 10.1007/s00467-012-2128-6

BACKGROUND: This study aims to predict risk factors for urological anomalies in children with anorectal malformations (ARM) and describes the clinical features of patients who have developed chronic kidney disease.
METHODS: We retrospectively reviewed infants with ARM who received surgery and were followed at the Sabah Women and Children's Hospital, Malaysia, from 1986 to 2010.
RESULTS: One hundred and twenty-two children with anorectal malformations were studied, after excluding 24 children with incomplete data. Three factors were significant as predictors of the presence of a urological anomaly: high ARM lesion (OR 3.12, 95%CI 1.1-8.9), the presence of genital abnormality (OR 2.95, 95%CI 1.10-7.91) and cloacal anomaly in girls (OR 8.27, 95% CI 1.91-35.6). The most common anomalies were vesicoureteric reflux, single kidney and neurogenic bladder. Chronic kidney disease (CKD) was noted in 5.7%, in children who had recurrent urinary tract infections, neurogenic bladder or complex renal tract pathology; end-stage renal failure was seen in only 0.8% of children with ARM.
CONCLUSION: Urological anomalies were seen in 23% of patients, but the overall incidence of CKD and end-stage renal disease is low. Early identification of infants with ARM at risk of renal failure may be important for renal survival.
Fulltext Clinical characteristics and mortality risk prediction in critically ill children in Malaysian Borneo

Ganesan I, Thomas T, Ng FE, Soo TL

Singapore Med J, 2014 May;55(5):261-5.
PMID: 24862750

INTRODUCTION: Mortality risk prediction scores are important for benchmarking quality of care in paediatric intensive care units (PICUs). We aimed to benchmark PICU outcomes at our hospital against the Pediatric Index of Mortality 2 (PIM2) mortality risk prediction score, and evaluate differences in diagnosis on admission and outcomes between Malaysian and immigrant children.

METHODS: We prospectively collected demographic and clinical data on paediatric medical patients admitted to the PICU of Sabah Women's and Children's Hospital in Kota Kinabalu, Sabah, Malaysia. The PIM2 risk score for mortality was tabulated.

RESULTS: Of the 131 patients who met the inclusion criteria, data was available for 115 patients. The mean age of the patients was 2.6 ± 3.8 years, with 79% of the cohort aged less than five years. Patients were mainly of Kadazan (38%) and Bajau (30%) descent, and 26% of patients were non-citizens. Leading diagnoses on admission were respiratory (37%), neurological (18%) and infectious (17%) disorders. Out of the 29 patients who died, 23 (79%) were Malaysians and the main mortality diagnostic categories were respiratory disorder (22%), septicaemia (22%), haemato-oncological disease (17%) and neurological disorder (13%). Calculated standardised mortality ratios (SMRs) were not significantly > 1 for any patient category for variables such as age and admission diagnosis. However, infants less than two years old with comorbidities were significantly worse (SMR 2.61, 95% confidence interval 1.02-6.66).

CONCLUSION: The patient profile at our centre was similar to that reported from other PICUs in Asia. The PIM2 score is a useful mortality risk prediction model for our population.
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN)

Lu L, Yap YC, Nguyen DQ, Chan YH, Ng JL, Zhang YC, et al.

Clin Genet, 2022 Jan 22.
PMID: 35064937 DOI: 10.1111/cge.14116

Multinational studies have reported monogenic etiologies in 25%-30% of children with steroid-resistant nephrotic syndrome. Such large studies are lacking in Asia. We established Deciphering Diversities: Renal Asian Genetics Network (DRAGoN) and aimed to describe the genetic and clinical spectrums in Asians. We prospectively studied a cohort of 183 probands with suspected genetic glomerulopathies from South and Southeast Asia, of whom 17% had positive family history. Using multi-gene panel sequencing, we detected pathogenic variants in 26 (14%) probands, of whom one-third had COL4A4 or COL4A5 variants (n = 9, 5%). Of those with COL4A5 defects, only 25% had features suggestive of Alport syndrome. Besides traditional predictors for genetic disease (positive family history and extrarenal malformations), we identified novel predictors, namely older age (6.2 vs. 2.4 years; p = 0.001), hematuria (OR 5.6; 95% CI 2.1-14.8; p 60% when a second risk factor (positive family history or extrarenal manifestation) co-existed. The genetic spectrum of glomerulopathies appears different in Asia. Collagen IV genes may be included in sequencing panels even when suggestive clinical features are absent.