We report a rare case of an 18 year old girl with Sturge- Weber syndrome, she had extensive facial port wine stains, right bupthalmos and advanced glaucoma involving both eyes. She underwent right eye glaucoma drainage device surgery under general anaesthesia, and had a difficult intubation due to extensive angiomatous like soft tissue swelling at her upper airway. This report highlights the importance of being aware of the need for continuous follow-up in Sturge-Weber syndrome patients as this syndrome can lead to blindness due to advance glaucoma and the awareness of possible difficult intubation for this group of patients.

INTRODUCTIONTo explore the relationship between ethnic origin and mode of feeding with early neonatal jaundice, we examined maternal and neonatal risk factors for hyperbilirubinaemia in a multi-ethnic Asian cohort of healthy term newborns.

MATERIALS AND METHODSThis is an observational cohort study in a maternity ward serving a multi-ethnic cosmopolitan community. The relationship between hyperbilirubinaemia (bilirubin >or=150 mmol/L before 48 hours to 72 hours after birth), ethnic origin, weight loss after birth, need for phototherapy, and other factors were examined. Bivariate comparisons and binary logistic regression were used to investigate the relationship between hyperbilirubinaemia/phototherapy with maternal and neonatal risk factors.

RESULTSA consecutive group of 1034 neonates (56% Chinese, 24% Indian subcontinent, 9% Malay) with birth weights >or=2500 g was investigated. Overall factors that contributed significantly to hyperbilirubinaemia/phototherapy were gestational age, Chinese ethnic origin, weight loss of >or=7%, vaginal delivery, glucose-6-phosphate-dehydrogenase (G6PD) deficiency, breastfeeding and ABO incompatibility. Chinese neonates who were totally breastfed had a higher risk for jaundice [adjusted odds ratio (OR) = 1.64; 95% confidence intervals (CI), 1.11- 2.44; P <0.014], and phototherapy (adjusted OR = 2.75; 95% CI 1.77-4.27; P <0.001) compared to those supplemented with, or totally formula fed. In contrast, the risk of jaundice for non- Chinese infants did not differ according to the mode of feed. Although weight loss as a whole increased the risk for jaundice (adjusted OR = 1.43; 95%CI, 1.03-1.99; P = 0.031), jaundice in Chinese neonates was not due to ineffective breastfeeding because both Chinese and non-Chinese breastfed infants lost similar weights.

CONCLUSIONSChinese ethnic origin was an independent risk factor for hyperbilirubinaemia and phototherapy. Breastfeeding was not a risk factor for hyperbilirubinaemia/phototherapy in non-Chinese Asian infants.

Asian Continental Ancestry Group ; Breast Feeding ; Ethnic Groups ; Female ; Gestational Age ; Humans ; Hyperbilirubinemia, Neonatal ; etiology ; therapy ; Infant Formula ; Infant, Newborn ; Jaundice, Neonatal ; etiology ; Male ; Phototherapy ; Risk Factors

Developmental delays are common in childhood, occurring in 10%-15% of preschool children. Global developmental delays are less common, occurring in 1%-3% of preschool children. Developmental delays are identified during routine checks by the primary care physician or when the parent or preschool raises concerns. Assessment for developmental delay in primary care settings should include a general and systemic examination, including plotting growth centiles, hearing and vision assessment, baseline blood tests if deemed necessary, referral to a developmental paediatrician, and counselling the parents. It is important to follow up with the parents at the earliest opportunity to ensure that the referral has been activated. For children with mild developmental delays, in the absence of any red flags for development and no abnormal findings on clinical examination, advice on appropriate stimulation activities can be provided and a review conducted in three months' time.
Child ; Child, Preschool ; Developmental Disabilities ; diagnosis ; therapy ; Female ; Humans ; Male ; Mass Screening ; methods ; Parents ; Pediatrics ; methods ; Physical Examination ; Physician-Patient Relations ; Primary Health Care ; organization & administration ; Referral and Consultation ; Singapore

INTRODUCTIONChildhood developmental and behavioural disorders (CDABD) have been increasingly recognised in recent years. This study evaluated the profiles and outcomes of children referred for developmental and behavioural concerns to a tertiary child developmental centre in Singapore. This is the first such regional database.

METHODSBaseline information, obtained through a questionnaire, together with history at first consultation, provided information for referral, demographic and presentation profiles. Clinical formulations were then made. Definitive developmental and medical diagnoses, as well as outcomes based on clinical assessment and standardised testing, were recorded at one year post first consultation.

RESULTSOut of 1,304 referrals between January 1, 2003 and December 1, 2004, 45% were 2-4 years old and 74% were boys. The waiting time from referral to first consultation exceeded four months in 52% of children. Following clinical evaluation, 7% were found to be developmentally appropriate. The single most common presenting concern was speech and language (S&L) delay (29%). The most common clinical developmental diagnosis was autism spectrum disorder (ASD) (30%), followed by isolated S&L disorder, global developmental delay (GDD) and cognitive impairment (CI). Recommendations included S&L therapy (57%), occupational therapy (50%) and psychological/behavioural services (40%). At one year, ASD remained the most common definitive developmental diagnosis (31%), followed by S&L disorder, CI and GDD. Most were children with high-prevalence, low-moderate severity disorders who could potentially achieve fair-good prognosis with early intervention.

CONCLUSIONBetter appreciation of the profile and outcome of children with CDABD in Singapore could enable better resource planning for diagnosis and intervention.

Adolescent ; Adult ; Child ; Child Behavior Disorders ; diagnosis ; epidemiology ; Child Development Disorders, Pervasive ; epidemiology ; therapy ; Child, Preschool ; Databases, Factual ; Developmental Disabilities ; diagnosis ; epidemiology ; Female ; Humans ; Infant ; Male ; Occupational Therapy ; Psychotherapy ; Registries ; Singapore ; Speech Disorders ; epidemiology ; therapy ; Speech Therapy ; Surveys and Questionnaires ; Time Factors ; Treatment Outcome

Child development refers to the continuous but predictably sequential biological, psychological and emotional changes that occur in human beings between birth and the end of adolescence. Developmental surveillance should be incorporated into every child visit. Parents play an important role in the child's developmental assessment. The primary care physician should educate and encourage parents to use the developmental checklist in the health booklet to monitor their child's development. Further evaluation is necessary when developmental delay is identified. This article aimed to highlight the normal child developmental assessment as well as to provide suggestions for screening tools and questions to be used within the primary care setting.
Adolescent ; Checklist ; Child ; Child Development ; Child, Preschool ; Developmental Disabilities ; diagnosis ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Infant ; Infant, Newborn ; Male ; Parent-Child Relations ; Parents ; psychology ; Physicians, Primary Care ; psychology ; Primary Health Care ; Professional-Family Relations ; Singapore

INTRODUCTIONSporadic colorectal cancers with BRAF mutations constitute two distinct subgroups of colorectal cancers. Recent studies have linked the presence of the BRAF mutation to a familial inheritance pattern. This was a proof-of-concept study that aimed to examine: (a) the extent of field change in sporadic colorectal cancers with BRAF mutation; and (b) the extent of resection margins required and the pattern of DNA mismatch repair protein loss in these tumours.

METHODSEight microsatellite instability-high tumours with positive BRAF mutation from an existing histopathological database were selected for BRAF mutation and mismatch repair protein analysis.

RESULTSAll the resection margins were negative for BRAF mutation. Three tumours had loss of MLH1 and PMS2 expressions, and five tumours had no protein loss. Six peritumoral tissues were negative and one was positive for BRAF mutation.

CONCLUSIONThe results suggest that any early field change effect is restricted to the immediate vicinity of the tumour and is not a pan-colonic phenomenon. Current guidelines on resection margins are adequate for BRAF mutation-positive colorectal cancers. Any suggestion of a hereditary link to these tumours is likely not related to germline BRAF gene mutations. The pattern of protein loss reinforces previous findings for the two subgroups of BRAF mutation-positive colorectal cancers.

Colorectal Neoplasms ; genetics ; pathology ; Female ; Humans ; Male ; Microsatellite Instability ; Mutation ; Neoplasm Metastasis ; Peritoneal Neoplasms ; pathology ; secondary ; Proto-Oncogene Proteins B-raf ; genetics ; Stomach Neoplasms ; pathology ; secondary