The physical and developmental outcomes of children whose mothers are substance abusers: Analysis of associated factors and the impact of early intervention.

Background/objectives: Maternal illicit drug use is associated with negative physical and developmental outcomes for their born children. We aim to find out the incidence of different developmental problems in a cohort of Chinese children born to drug-abusing mothers, compare the physical health and developmental outcomes of the subjects recruited in the Integrated Program to the Comprehensive Child Development Service (CCDS), and to study the potential factors on their associations.

Methods: A retrospective longitudinal cohort study with frequent clinical assessments of the children's physical and developmental outcomes in a HKSAR's regional hospital from birth until 5 years old.

Genital anomalies in Klinefelter's syndrome.

Background/aims: Klinefelter's syndrome is characterized by progressive testicular failure causing aspermatogenesis and androgen deficiency. Klinefelter patients classically have complete male sex differentiation, and genital anomalies are generally not recognized as associated features of the syndrome.

Methods: We reviewed the cases of Klinefelter's syndrome with genitalia abnormalities from the Cambridge Disorders of Sex Development Database, and also reviewed previous case reports of genital anomalies associated with Klinefelter's syndrome and its variants.

Novel donor splice site mutation of ABCG5 gene in sitosterolemia.

In a patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene. The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e.

DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.

Isolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy. There is a special demand for prenatal diagnosis, since no effective treatment is available for isolated sulfite oxidase deficiency. Until now, the cDNA sequence of the sulfite oxidase (SUOX) gene has been available, but the genomic sequence of the SUOX gene has not been published.