Usefulness of a buccal smear in the initial assessment of a baby with a disorder of sex development.

Introduction: A newborn with a disorder of sex development (DSD) has ambiguous genitalia and thus, it is difficult to identify the sex of such a baby at birth. Early identification is essential for psychological, social and medical reasons. Therefore a karyotype is mandatory but the result takes time whereas a buccal smear result for Barr bodies is available within a few hours. Objective: Assess the usefulness of a buccal smear as an initial investigation for genetic assessment of a baby with a DSD. Method: A buccal smear and karyotype were done on all babies with a DSD referred to a ward at the Lady Ridgeway Hospital, Sri Lanka over 3 years from November 2008. A smear was made from the buccal mucosa and 100 squamous cells were examined for the presence of Barr bodies. Control samples were taken from their mothers. Barr bodies will be present in ≥25 cells if the baby is 46, XX and there will be no Barr bodies in 46, XY. Results: Buccal smear result corresponded to the karyotype in 23 of 33 (70%) patients. The smears were inconclusive in 5 and were negative in 4 with 45, X/46, XY. The strength of agreement between a buccal smear and karyotype in assessing sex was ‘moderate’ (kappa 0.571, p=0.001). All buccal smear results were available in 24-48 hours and 73% of the karyotype results after 4 weeks. Conclusions: This is a useful initial investigation for genetic assessment prior to a karyotype in a baby with a DSD. Sex chromosome mosaicism cannot be identified by this method.

Attention deficit hyperactivity disorder in adults.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is a disorder that begins in childhood, characterised by hyperactivity, inattentiveness and impulsivity. The disorder persists into adulthood but with some differences in the way it presents. METHODS: This case series included 29 adult patients from a metropolitan, office-based, private psychiatric consultant practice over a period of four years. RESULTS AND DISCUSSION: 72% were males and 28% were females, with a mean age of 28 years. Management involved biological, psychological and educational approaches. Stimulants, including dexamphetamine and methylphenidate, were mainstay in biological treatment and non-stimulant medications, such as, atomoxetine was used infrequently. Comorbidities such as substance abuse and mood disorders were common among the study group. CONCLUSION: ADHD is an illness, the symptoms of which may persist into adulthood. With diagnosis of the disease and the use of stimulants, adjunctive medications as appropriate, and behavioural interventions.

Fungal skin infections in a paediatric dermatology clinic.

A diagnosis of fungal infection was established in 8.6% of patients who attended the dermatology clinic at the Lady Ridgeway Hospital, Colombo over a one year period. Only 4.3% were confirmed in the laboratory. The agreement between clinical and laboratory diagnosis was 96.6% for patients with typical clinical features, but only 26.4% for patients who did not have the classical appearance. Both direct microscopy and culture are required to determine the causative agent, although the majority (92%) of patients could be diagnosed on microscopy alone. Microsporum gypseum was the commonest fungus isolated from children.

Changing antibiotic sensitivity patterns in shigellosis.

Over five and a half months stool cultures were performed in 154 patients admitted with suspected bacillary dysentery to the Professorial Paediatric Unit of the Teaching Hospital, Galle. Thirty one patients had a positive stool culture; Shigella dysenteriae type 1 was isolated in 23 patients, and S flexneri in 8. In both groups the antibiotic sensitivity pattern was uniform, the only difference being S dysenteriae type 1 being resistant to nalidixic acid while S flexneri was sensitive. This antibiotic sensitivity pattern was different to that reported from Colombo during the same period. Complications were observed in some patients with S flexneri infection.

Axillary temperature in relation to oral temperature in a group of children in Sri Lanka.

The relationship between the oral temperature (OT) and the axillary temperature (AT) is not clearly established. The measurement of the OT could be an unhygienic procedure. Therefore, a study was done to determine the nature of relationship between OT and AT and whether AT could be used in place of OT. The OT and AT were measured in a group of children with OT's ranging from 97 degrees F (36 degrees C) to 105 degrees F (40.5 degrees C). The average difference of OT minus AT was statistically determined to be 0.3 degrees F (0.15 degrees C) throughout the range of temperatures tested. The correlation (r) between OT and AT was 0.99 (p less than 0.001). The AT is recommended as a reliable measure to be used in routine assessment of body temperature.