A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism.

Disorders of sex development (DSD) are caused by defects in the complex sexual differentiation cascade, resulting in discordance among an individual's genetic, gonadal, and genital sexes. It affects one in 4,500 live births. A wide spectrum of genital phenotypes can be found depending on the underlying pathogenic mechanism and the developmental stage that is affected.

Diabetic ketoacidosis in children with new-onset type 1 diabetes mellitus: demographics, risk factors and outcome: an 11 year review in Hong Kong.

Objectives: Diabetic ketoacidosis (DKA) is a life-threatening complication of type 1 diabetes (T1D). The aim of this study is to analyze the incidence, clinical characteristics, management and outcome of children presenting with DKA in new-onset T1D from 2008 to 2018 in Hong Kong.

Methods: Data was extracted from the Hong Kong Childhood Diabetes Registry.

Identification and Mapping of a 2,009-bp DNA Deletion in of a Hereditary Angioedema Patient.

We report a heterozygous, 2,009 base pairs (bps) genomic DNA deletion within the gene that has not previously been reported in a case of type I hereditary angioedema (HAE). The patient is a 28-year-old Han Chinese female living in Hong Kong who has suffered from recurrent angioedema since adolescence, with increasing attack frequency as she entered adulthood; in the past, episodes occurred annually, but now occur every two to three months. The affected areas are not itchy and include common sites such as the left and right forearms, but without throat involvement.

Measuring natural killer cell cytotoxicity by flow cytometry.

Natural killer (NK) cell cytotoxic function is critical in guarding an organism against viral infections and malignantly transformed cells. Although the Chromium (Cr)-release assay is regarded as the gold standard for assessing NK cell cytolytic activity, this method is associated with a number of technical problems including the use of radioactive reagents and inconsistent assay performance, due to the lack of assay standardisation across laboratories. Here we describe the setup of a flow cytometry (FC) based method for the measurement of NK cell cytotoxicity, suitable for patient testing.

Osteolipoma in the Forearm.

A case of left distal forearm and wrist osteolipoma in a 56 year old female is reported. The patient presented with a 3 year history of nontender left wrist mass. Radiographs demonstrated a lobulated mass of mixed low density and calcifications, not adjacent to and with no connection to underlying bone.