Congenital Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene : Case Series of three patients.

Introduction: Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Loss of function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene causes X-linked central hypothyroidism and represent the most common genetic cause of central hypothyroidism. In addition to central hypothyroidism, some patients with IGSF1 deficiency have hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism.

Differences in Quality of Life in Children Across the Spectrum of Congenital Heart Disease.

Objective: To create complexity groups based upon a patient's cardiac medical history and to test for group differences in health-related quality of life (HRQOL).

Methods: Patients 8-18 years with congenital heart disease (CHD) and parent-proxies from the Pediatric Cardiac Quality of Life Inventory (PCQLI) Testing Study were included. Outcome variables included PCQLI Total, Disease Impact, and Psychosocial Impact scores.

Long-Term Quality of Life in Congenital Heart Disease Surgical Survivors: Multicenter Retrospective Study of Surgical and ICU Explanatory Factors.

Objectives: Greater congenital heart disease (CHD) complexity is associated with lower health-related quality of life (HRQOL). There are no data on the association between surgical and ICU factors and HRQOL in CHD survivors. This study assess the association between surgical and ICU factors and HRQOL in child and adolescent CHD survivors.

Mitigating Latent Threats Identified through an Embedded Simulation Program and Their Comparison to Patient Safety Incidents: A Retrospective Review.

Objective: To assess the impact of service improvements implemented because of latent threats (LTs) detected during simulation.

Design: Retrospective review from April 2008 to April 2015.

Setting: Paediatric Intensive Care Unit in a specialist tertiary hospital.