Effect of gender, diabetes duration, inflammatory cytokines, and vitamin D level on bone mineral density among Thai children and adolescents with type 1 diabetes.

Introduction: Type 1 diabetes mellitus (T1DM) is considered a risk factor for osteoporosis in adults; however, studies in bone mineral density (BMD) in children with T1DM reported conflicting results. The aim of this study was to compare BMD between T1DM youth and healthy controls, and to identify factors that affect BMD in T1DM youth.

Methods: One hundred T1DM youths and 100 healthy controls (both groups aged 5-20 years) were recruited.

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Holoprosencephaly (HPE) is the most common malformation of the human forebrain. Typical manifestations in affected patients include a characteristic pattern of structural brain and craniofacial anomalies. HPE may be caused by mutations in over 10 identified genes; the inheritance is traditionally viewed as autosomal dominant with highly variable expressivity and incomplete penetrance.