Neonatal McCune-Albright Syndrome: A Unique Syndromic Profile With an Unfavorable Outcome.

Somatic gain-of-function mutations of cause a spectrum of clinical phenotypes, ranging from McCune-Albright syndrome (MAS) to isolated disease of bone, endocrine glands, and more rarely, other organs. In MAS, a syndrome classically characterized by polyostotic fibrous dysplasia (FD), café-au-lait (CAL) skin spots, and precocious puberty, the heterogenity of organ involvement, age of onset, and clinical severity of the disease are thought to reflect the variable size and the random distribution of the mutated cell clone arising from the postzygotic mutation. We report a case of neonatal MAS with hypercortisolism and cholestatic hepatobiliary dysfunction in which bone changes indirectly emanating from the disease genotype, and distinct from FD, led to a fatal outcome.

Relationships and the development of transition readiness skills into early emerging adulthood for individuals with type 1 diabetes.

The study examined how 'transition readiness' skills develop from relationship processes with parents, friends, and healthcare providers. During their senior year of high school and one year later, participants ( = 217) with type 1 diabetes completed measures of transition readiness skills (Self-Management; Self-Advocacy), adherence, HbA1c, and relationships with providers (patient-centered communication), parents (monitoring/knowledge), and friends (knowledge/helpfulness) surrounding diabetes. Self-Management skills increased across time.

Screening method for isopeptides from small ubiquitin-related modifier-conjugated proteins by ion mobility mass spectrometry.

Posttranslational modification by the small ubiquitin-related modifier (SUMO) is a highly regulated modification, which is often restricted to very specific cellular events. A number of analytical strategies for identification of SUMOylated proteins have been previously reported in the literature. A new screening method for SUMOylated peptides based on ion mobility mass spectrometry is presented.

Mother child appraised involvement in coping with diabetes stressors and emotional adjustment.

Objective: To examine how children's and mother's appraisals of each other's involvement in coping with diabetes events are associated with emotional adjustment.

Methods: One hundred and twenty-seven children (ages 10-15 years) with type 1 diabetes and their mothers reported on their own emotional adjustment and how each other was involved in coping strategies surrounding diabetes stressful events.

Results: Appraisals that mothers and children were uninvolved with each other's stressors were associated with greater depressive symptoms and less positive mood; children's appraisals of mother's supportive involvement with children's less depressive symptoms, and appraisals of collaborative involvement with less depressive symptoms and more positive mood for both mothers and children.

Children's appraisals of maternal involvement in coping with diabetes: enhancing our understanding of adherence, metabolic control, and quality of life across adolescence.

Objective: To examine how children's appraisals of maternal involvement in coping with diabetes are associated with adherence, metabolic control, and quality of life across adolescence.

Methods: Children (N = 127, ages 10-15 years) with type 1 diabetes completed measures of adherence, quality of life, and appraisals of mothers' involvement in dealing with diabetes problems (i.e.

The role of autonomy and pubertal status in understanding age differences in maternal involvement in diabetes responsibility across adolescence.

Objective: To examine how autonomy and pubertal status explain age decreases in maternal involvement in type 1 diabetes management across adolescence, how they relate to metabolic control, and the reasons that guide declines in maternal involvement.

Methods: One hundred twenty-seven children ages 10-15 years with type 1 diabetes and their mothers participated. Data included maternal and child report of diabetes management, child report of autonomy level, maternal report of pubertal status, maternal reports of reasons for transfer of diabetes responsibility, and glycosylated hemoglobin (Hba(1c)) values.

Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.

Objectives: The present paper reports the prenatal diagnosis of congenital adrenal hyperplasia (CAH) in two cases of 21-hydroxylase deficiency. DNA diagnostic errors can be caused by the presence of the highly homologous 21-hydroxylase pseudogene, CYP21P, adjacent to the functional gene, CYP21. The present paper details how complex gene conversions and rearrangements between the CYP21 and CYP21P pose unique complications for prenatal diagnosis.