Severe Hypercalcemia due to Hypervitaminosis D in a Breastfed Infant.

Vitamin D is one of the most commonly recommended dietary supplements and is often the first medication ever prescribed in infancy. However, with the variety of concentrations available, including many over-the-counter formulations, dosing errors can easily occur. We present a case of a breastfed infant with a calcium level greater than 23 mg/dL (5.

Vertebral Compression Fractures in Very Early Onset Inflammatory Bowel Disease.

Unlabelled: To describe clinical characteristics and outcomes of 3 patients with very early onset inflammatory bowel disease (VEOIBD) and vertebral compression fractures.

Methods: Patients with VEOIBD receiving care at a single tertiary center were prospectively enrolled in a longitudinal data repository. Retrospective chart review was performed to identify clinical characteristics and comorbidities.

Bone marrow adiposity in pediatric Crohn's disease.

Patients with Crohn's disease often have low bone mineral density and an increased risk of osteoporosis. Although decreased bone formation can be seen at diagnosis, the underlying pathophysiology of suboptimal bone accrual remains poorly understood. We sought to evaluate a novel mechanism affecting osteogenesis in patients with Crohn's disease.

Efficacy and Safety of High-dose Cholecalciferol in Patients With Inflammatory Bowel Disease Receiving Infliximab.

Objective: Vitamin D deficiency is prevalent in patients with inflammatory bowel disease (IBD). The goal of this study was to assess the efficacy and safety of high-dose, interval cholecalciferol administration in patients with IBD receiving infliximab.

Methods: This prospective, longitudinal, open-label study enrolled pediatric and young adult patients with IBD and vitamin D deficiency.

Bone Health in Pediatric Patients with IBD: What Is New?

Purpose Of The Review: Patients with inflammatory bowel disease (IBD) have increased bone fragility, demonstrated by increased fracture risk, and often have low bone density and altered bone geometry, but the underlying pathophysiology remains poorly understood.

Recent Findings: Children and adolescents with IBD appear to have decreased bone formation, at diagnosis, which frequently improves with treatment of their underlying IBD. There is a growing body of evidence regarding how the immune system interacts with bone metabolism.

Adolescents and Bone Health.

Adolescence is a critical time for the acquisition of peak bone mass. There are modifiable factors that may influence bone health in an adolescent. For those at risk for bone fragility, initial management includes optimization of calcium and vitamin D, weight-bearing exercise, and maintenance of a normal body weight.

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

Context: Hypophosphatemia and metabolic bone disease are associated with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to biallelic mutations of SLC34A3 encoding the NPT2C sodium-phosphate cotransporter and nephrolithiasis/osteoporosis, hypophosphatemic 1 (NPHLOP1) due to monoallelic mutations in SLC34A1 encoding the NPT2A sodium-phosphate cotransporter.

Objective: To identify a genetic cause of apparent dominant transmission of HHRH.

Design And Setting: Retrospective and prospective analysis of clinical and molecular characteristics of patients studied in 2 academic medical centers.

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

Context: X-linked acrogigantism (X-LAG), a condition of infant-onset acrogigantism marked by elevated GH, IGF-1, and prolactin (PRL), is extremely rare. Thirty-three cases, including three kindreds, have been reported. These patients have pituitary adenomas that are thought to be mixed lactotrophs and somatotrophs.

Poor Glycemic Control Is Associated With Impaired Bone Accrual in the Year Following a Diagnosis of Type 1 Diabetes.

Context: Type 1 diabetes (T1D) is associated with an increased fracture risk across the life course. The effects on bone accrual early in the disease are unknown.

Objective: To characterize changes in bone density and structure over the year following diagnosis of T1D and to identify contributors to impaired bone accrual.

Combined effects of cholecystokinin-8 and gastric distension on food intake in humans.

In a previous study (Kissileff HR, Carretta JC, Geliebter A, Pi-Sunyer FX. 285: R992-R998, 2003), when subthreshold gastric distension (300 ml) and a low dose of cholecystokinin octapeptide (CCK-8) (112 ng/min for 21 min) were concurrently administered to human participants, intake of a test meal was significantly reduced. However, the supra-additive interaction of CCK-8 and gastric distension was not significant.

Genetic Disorders of Parathyroid Development and Function.

Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia and is due to insufficient levels of circulating parathyroid hormone. Hypoparathyroidism may be an isolated condition or a component of a complex syndrome. Although genetic disorders are not the most common cause of hypoparathyroidism, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone, or postnatal destruction of the parathyroid glands.

Effects of Opioid Antagonism on Cerebrospinal Fluid Melanocortin Peptides and Cortisol Levels in Humans.

Context: Hypothalamic proopiomelanocortin (POMC) is processed to -melanocyte-stimulating hormone, which interacts with the melanocortin antagonist agouti-related protein (AgRP), to regulate energy balance. The POMC-derived opioid peptide -endorphin (-EP) also affects feeding behavior via interactions with brain -opioid receptors (MORs), including autoinhibitory interactions with MOR expressed by POMC neurons. The opioid antagonist naltrexone (NTX) stimulates POMC neurons in rodents and decreases food intake.

Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children.

Objective: Hypophosphatemia occurs with inadequate dietary intake, malabsorption, increased renal excretion, or shifts between intracellular and extracellular compartments. We noticed the common finding of amino-acid based elemental formula [EF] use in an unexpected number of cases of idiopathic hypophosphatemia occurring in infants and children evaluated for skeletal disease. We aimed to fully characterize the clinical profiles in these cases.

Evaluation of CSF and plasma biomarkers of brain melanocortin activity in response to caloric restriction in humans.

The melanocortin neuronal system, which consists of hypothalamic proopiomelanocortin (POMC) and agouti-related protein (AgRP) neurons, is a leptin target that regulates energy balance and metabolism, but studies in humans are limited by a lack of reliable biomarkers to assess brain melanocortin activity. The objective of this study was to measure the POMC prohormone and its processed peptide, β-endorphin (β-EP), in cerebrospinal fluid (CSF) and AgRP in CSF and plasma after calorie restriction to validate their utility as biomarkers of brain melanocortin activity. CSF and plasma were obtained from 10 lean and obese subjects after fasting (40 h) and refeeding (24 h), and from 8 obese subjects before and after 6 wk of dieting (800 kcal/day) to assess changes in neuropeptide and hormone levels.

Childhood acromegaly due to X-linked acrogigantism: long term follow-up.

Purpose: Acromegaly in infancy is extremely rare. We describe a 32 year old woman who presented at 6 months of age with isolated macrocephaly, followed by accelerated linear growth. At 21 months of age, her head circumference was 55 cm (+5.

Health and social adjustment of homeless older adults with a mental illness.

Objective: To better inform treatment strategies, this study compared mental health, substance use, physical health, and social support among young, middle-aged, and older homeless adults before and after participation in intensive case management services.

Methods: Data were obtained from the Access to Community Care and Effective Services and Supports (ACCESS) public database. Young (age 18 to 34; N=2,469), middle-aged (age 35 to 54; N=4,358), and older (age 55 or older; N=408) homeless adults with a mental illness were compared on the basis of demographic characteristics and measures of substance use, mental and general medical health, and social support at baseline by using Kruskal-Wallis and chi square tests and at three-month and 12-month follow-ups by using mixed-model analysis.