Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families.

Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed. Semi-structured interviews explored flow and content of genetic information communicated, the meanings the families attach to the communicated information, and the motivating and hindering factors in communication. Thematic analysis was used to analyze the findings. A total of five families participated, which included 11 individuals. Findings revealed that the diagnosis of CAH is not kept secret and it is openly shared with the family. The decision to communicate is influenced by several factors including the family's desire to seek further information about their family history. Initially, the focus of the communicated information is on the health implications and while communication about genetics occurs, this is almost always confined to the immediate family. The mother and grandmother serve as primary communicators in the family. The families have limited understanding of CAH especially its genetic implications including recurrence risk and carrier status. The findings can guide genetic counselors in supporting families in communicating information about CAH with the rest of the family.

Incidence and risk factors of falls and fall-related injuries at the medical and surgical wards of the Philippine General Hospital

OBJECTIVE: There is no published local data available on falls and fall-related injuries among hospitalized patients. This study aims to determine the incidence of falls, fall-related injuries and related risk factors at the surgical and medical wards of a tertiary government hospital in the Philippines. METHODS: This is a cross-sectional study using consecutive sampling of patients admitted to the medical and surgical wards of a tertiary government hospital from May 2014 to April 2015. Data collection included the patients' demographic data, diagnosis, medications, details on the fall, consequence of the fall, and risk factors for the fall. RESULTS: During the one-year period, 25,849 patients were admitted to the medical and surgical wards and only six patients, representing 0.02%, were reported to have sustained a fall. No major injury occurred. The patients had varied neurologic and/or musculoskeletal disorders. Two patients fell from a wheelchair, while one fell from a bedside chair. One patient fell from the bed and one slipped on the floor. All patients had watchers/witnesses at the time of the fall. CONCLUSION: The incidence of falls and fall-related injuries is low in a local tertiary government hospital. No serious injury resulted from the falls. Prevailing practices, local cultural expectations and under reporting may have affected the relatively low incidence rates of patient falls reported in this study.

Ring chromosome 10 in Filipino child: A case report and review of literature

We report a 12-day-old infant who presented with ambiguous genitalia, short stature, low-set ears, stubby nose, patent ductus arteriosus and ventricular septal defect. He was confirmed to have a ring chromosome 10 by cytogenetic analysis. Review of the literature showed that our patient shared common clinical manifestations with previously described cases.

Monitoring congenital adrenal hyperplasia using blood spot 17-hydroxyprogesterone assay.

Blood spots taken by finger prick collected on filter paper cards can provide an option to venous blood extraction in monitoring 17-OHP levels in children with Congenital Adrenal Hyperplasia (CAH). This study was done to evaluate the usefulness of blood spot 17-OHP in monitoring disease control in pre-pubertal children with CAH, to correlate it with simultaneously extracted venous 17-OHP levels, and to compare blood spot levels of children with CAH with that of normal non-virilized children. Nine pre-pubertal children with CAH (1 male; 8 females) were enrolled in the study. Age, sex, growth velocity, height age and bone age were determined. Simultaneous venous and blood spot specimens were taken between 0800 and 0900 hours. Nine pre-pubertal, age- and sex-matched normal non-virilized children served as controls. COAT-A-COUNT was used to measure venous 17-OHP levels, and AutoDELFIA Neonatal 17alpha-OH-progesterone was employed for blood spot specimens. Mean age of patients with CAH was 42.78 months (SD= 21.45214). Four had simple virilizing form and five were salt-losers. Venous 17-OHP levels ranged from 7.5 to 800nmol/l. Blood spot 17-OHP levels ranged from < or =0.5000nmol/l to 355.5nmol/l. There was a strong positive correlation between the venous and blood spot determination, with a correlation coefficient gamma= 0.947 (p < 0.001). All of the children in the control group had a blood spot 17-OHP level < or =0.5000nmol/l. Taking blood spot 17-hydroxyprogesterone levels is a simple, acceptable, convenient, and less costly alternative to venous 17-OHP determination in monitoring treatment response of children with CAH. The decision to make treatment modification, however, should be made on random blood spot 17-OHP interpretation in conjunction with clinical history and evaluation of growth parameters.