Rifampin monotherapy for children with idiopathic infantile hypercalcemia.

Idiopathic Infantile Hypercalcemia (IIH) is characterized by hypercalcemia and hypercalciuria owing to PTH-independent increases in circulating concentrations of 1,25(OH)2D. At least 3 forms of IHH can be distinguished genetically and mechanistically: infantile hypercalcemia-1 (Hypercalcemia, Infantile, 1; HCINF1) due to CYP24A1 mutations results in decreased inactivation of 1,25(OH)2D; HCINF2 due to SLC34A1 mutations results in excessive 1,25(OH)2D production; and HCINF3 in which a variety of gene variants of uncertain significance (VUS) have been identified and where the mechanism for increased 1,25 (OH)2D is unclear. Conventional management with dietary calcium and vitamin D restriction has only limited success.

Relationship between risk factors for impaired bone health and HR-pQCT in young adults with type 1 diabetes.

Objective: In type 1 diabetes, risk factors associated with impaired bone health contribute to increased risk of fracture. The aim of this study was to (1): compare the high-resolution peripheral quantitative computed tomography (HR-pQCT) parameters of young adults with type 1 diabetes with those of healthy controls (2), identify sex differences, and (3) evaluate the association between diabetes and bone health risk factors, with HR-pQCT.

Methods: This is a cross-sectional study in young Canadian adults with childhood onset type 1 diabetes.

Gastrointestinal Symptoms in Type 1 Diabetes: Relationship With Autoimmune and Microvascular Complications.

Purpose: To assess reported rates of gastrointestinal (GI) symptoms and their association with autoimmune diseases and microvascular complications in adults and children with type 1 diabetes.

Methods: The Gastrointestinal Symptom Scale was used to assess GI symptom type and severity in 2370 patients with type 1 diabetes aged 8 to 45 years evaluated as part of a clinical trial screening for celiac disease (CD). The presence and severity of GI symptoms and relationships with demographic, clinical, and other diabetes-related factors were evaluated.

Evaluation of a paediatric gluten-free food guide by children and youth with coeliac disease, their parents and health care professionals.

There are currently no universal evidence-based nutrition guidelines that address the gluten-free (GF) diet for children/youth (4-18 years). A GF food guide was created to help children/youth with coeliac disease (CD) and their families navigate the complexities of following a GF diet. Guide formation was based on pre-guide stakeholder consultations and an evaluation of nutrient intake and dietary patterns.

Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.

Context: Idiopathic infantile hypercalcemia (IIH) is an uncommon disorder with variable clinical features. The natural history and response to dietary calcium and vitamin D restriction in IIH remains unclear.

Objective: The aim of this study is to describe the clinical and biochemical response to dietary calcium and vitamin D restriction in a genetically characterized cohort of mild IIH.

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Context: Idiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms.

Nutritional considerations of a paediatric gluten-free food guide for coeliac disease.

The gluten-free (GF) diet is the only treatment for coeliac disease (CD). While the GF diet can be nutritious, increased reliance on processed and packaged GF foods can result in higher fat/sugar and lower micronutrient intake in children with CD. Currently, there are no evidence-based nutrition guidelines that address the GF diet.

Impact of a Gluten-Free Diet on Quality of Life and Health Perception in Patients With Type 1 Diabetes and Asymptomatic Celiac Disease.

Context: Celiac disease (CD) is a common comorbidity seen in patients with type 1 diabetes (T1D) and is frequently asymptomatic. As chronic conditions requiring significant lifestyle changes, there are limited reports assessing changes in health-related quality of life (HRQoL) during transition to a gluten-free diet (GFD) in patients with T1D who are asymptomatic for CD.

Objective: This work aims to prospectively assess HRQoL and health perception in children and adults with T1D and asymptomatic CD after random assignment to GFD vs usual diet.

Screening and Treatment Outcomes in Adults and Children With Type 1 Diabetes and Asymptomatic Celiac Disease: The CD-DIET Study.

Objective: To describe celiac disease (CD) screening rates and glycemic outcomes of a gluten-free diet (GFD) in patients with type 1 diabetes who are asymptomatic for CD.

Research Design And Methods: Asymptomatic patients (8-45 years) were screened for CD. Biopsy-confirmed CD participants were randomized to GFD or gluten-containing diet (GCD) to assess changes in HbA and continuous glucose monitoring over 12 months.

Online education for gluten-free diet teaching: Development and usability testing of an e-learning module for children with concurrent celiac disease and type 1 diabetes.

Background And Objective: Celiac disease (CD), the most common genetically-based food intolerance, affects 3% to 16% of children with type 1 diabetes (T1D). Treatment involves lifelong adherence to a gluten-free diet (GFD). Individualized dietary education is resource-intensive.

Dietary Intake and Micronutrient Supplementation in Youth with Celiac Disease with and without Type 1 Diabetes.

The study purpose was to describe dietary intake and the factors influencing micronutrient supplements (MS) use in Celiac Disease (CD) ± Type 1 Diabetes (T1D). Three-day food records collected from parents of youth (3-18 years) with CD (n = 14) ± T1D (n = 10) were assessed for macro and micronutrient intake, diet quality (DQ), glycemic index (GI), glycemic load (GL), and food group intake. Focus group methodology and thematic concept analysis were conducted to determine factors influencing adolescent MS use.

Design of a dietary intervention to assess the impact of a gluten-free diet in a population with type 1 Diabetes and Celiac Disease.

Background: Celiac Disease occurs at a 5-10 fold greater prevalence in patients with type-1 diabetes (T1D), despite this increased risk, there is limited objective evidence regarding the impact of a Gluten-Free Diet (GFD) in the large proportion of asymptomatic (30-70%) patients with both autoimmune diseases. Given the requirements and intricacies inherent to each condition, we describe the rationale and design a dietary curriculum specifically addressing the educational requirements for children and adults with CD and diabetes as part of the CD-DIET Study.

Methods And Design: The CD-DIET Study (Celiac Disease and Diabetes - Dietary Intervention and Evaluation Trial) is a multicenter randomized controlled trial aimed at evaluating the safety and efficacy of a GFD in patients with asymptomatic celiac disease and T1D on key diabetes and patient-centered outcomes.

The Celiac Disease and Diabetes-Dietary Intervention and Evaluation Trial (CD-DIET) protocol: a randomised controlled study to evaluate treatment of asymptomatic coeliac disease in type 1 diabetes.

Introduction: Coeliac disease (CD) is an autoimmune condition characterised by gluten-induced intestinal inflammation, and observed at a 5-10 fold greater prevalence in type 1 diabetes. While universal screening for CD in patients with diabetes is frequently advocated, objective data is limited as to benefits on diabetes control, bone health or quality of life related to the adoption of a gluten-free diet (GFD) in the large proportion of patients with diabetes with asymptomatic CD. The Celiac Disease and Diabetes-Dietary Intervention and Evaluation Trial (CD-DIET) study is a multicenter, randomised controlled trial to evaluate the efficacy and safety of a GFD in patients with type 1 diabetes with asymptomatic CD.

Vitamin D supplementation and CD4 count in children infected with human immunodeficiency virus.

Objective: To evaluate, in a randomized fashion, the impact of vitamin D supplementation on CD4 count and measures of vitamin D homeostasis in children infected with human immunodeficiency virus (HIV).

Study Design: Children infected with HIV (n = 54) were randomized to receive no supplementation (group 1), vitamin D 5600 IU/week (group 2), or vitamin D 11 200 IU/week (group 3) for 6 months. Viral load, CD4 percent, CD4 count, 25-hydroxyvitamin D (25[OH]D), 1,25-dihydroxyvitamin D, and other measures of vitamin D metabolism were measured at baseline and 6 months later.

Quality of life in children with diabetes and celiac disease: minimal impact of the 'double diagnosis'.

Background: Despite the advent of sensitive testing to detect celiac disease (CD), screening in type 1 diabetes (T1D) remains controversial. Many diabetes clinics are apprehensive about the prospect of introducing a second illness requiring intensive lifestyle changes in patients and families already managing a chronic condition, especially in asymptomatic patients.

Objective: To determine the impact of managing CD + T1D on quality of life in families, with attention to the effect of adherence with a gluten-free diet (GFD) and metabolic control.

Celiac disease and pediatric type 1 diabetes: diagnostic and treatment dilemmas.

Despite the advent of sensitive and specific serologic testing, routine screening for celiac disease (CD) in diabetic populations may not be universal practice, and many clinicians struggle to find the optimal approach to managing CD in pediatric Type 1 diabetes (T1D) patients. While some clinicians advocate screening for CD in all patients with T1D, others are unsure whether this is warranted. The diagnosis of patients who present with symptomatic CD, including malabsorption and obvious pathology upon biopsy, remains straightforward, with improvements noted on a gluten-free diet.