Improving transition of care from pediatric to adult endocrinology for adolescents with diabetes.

Introduction: Adolescence is a challenging time in a child's life and can be even more stressful for those with a chronic medical condition such as diabetes mellitus. Adolescents and young adults with type 1 and type 2 diabetes experience worsening glycemic levels as they enter adulthood. Data suggest that a formalized health care transition process and beginning transition preparation in early adolescence leads to better transition outcomes.

Hypocalcaemia owing to severe vitamin D deficiency in two children with autism spectrum disorder and food allergy.

Individuals with autism spectrum disorder (ASD) often exhibit limited food preferences and sensory sensitivity. Co-existing food allergies in this population can further limit their already restricted diets, increasing the risk of nutritional deficiencies. Two children with ASD and food allergies presented with non-specific symptoms and were found to have hypocalcaemia secondary to severe vitamin D deficiency.

Using Quality Improvement to Optimize Blood Product Utilization in a Pediatric Cardiac Catheterization Laboratory.

Packed red blood cells (PRBC) are frequently ordered for cardiac catheterization procedures, which increases resource utilization and patient charges. We applied the Plan-Do-Study-Act (PDSA) principle in order to optimize the ordering of PRBC for pediatric cardiac procedures and reducing charges. Our primary aim was to increase adherence to ordering guidelines to greater than 97%, with a global aim to reduce resource utilization.

Amitriptyline-Induced Hyperprolactinemia in a Pediatric Patient.

Hyperprolactinemia is an endocrinological disorder that might arise from various physiologic or pathologic conditions, as well as from pharmacologic sources. These pharmacologic sources include antidepressants, antipsychotics, and dopamine receptor-blocking agents. Amitriptyline is classified as a tricyclic antidepressant.

Deep Vein Thrombosis as the Presenting Sign in an Adolescent With New-Onset Type 2 Diabetes.

Prothrombin G20210A mutation occurs in only 2% to 3% of the population, but usually does not become apparent unless the individual exhibits another risk factor for clotting. A risk factor such as hyperglycemia in the setting of diabetes mellitus may accelerate this clotting process, even at a very young age. In this case report, we discuss a 15-year-old boy presenting with left calf swelling and pain, found to have extensive deep vein thrombosis in the setting of hyperglycemia and a newly discovered prothrombin mutation.

The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax.

We present the case of a 19-year-old female with Ullrich congenital muscular dystrophy (UCMD1, a collagen VI defect) who developed a right-sided pneumothorax after choking on a piece of meat. She received two chest tubes (pigtails) that resolved the pneumothorax. She was discharged in stable condition, and a chest radiograph two weeks later showed total resolution of the pneumothorax.

Updating Normal Organ Weights Using a Large Current Sample Database.

Context.—: Organ weights are an essential part of autopsy analysis. Deviations from normal organ weights provide important clues to disease processes.

Rate and risk factors for post-adenotonsillectomy complications in children under 24 months and 24 to 36 months old.

Purpose: The primary purpose of this study was to assess the overall rate of postoperative complications after adenotonsillectomy in children under 24 months old relative to children 24-36 months old. Our secondary goal focused on quantifying specific preoperative risk factors that predispose children to postoperative complications.

Methods: We retrospectively reviewed 248 patients who underwent adenotonsillectomy at our ENT office from 2006 to 2011.

Overexpression of Desmoglein 2 in a Mouse Model of Gorlin Syndrome Enhances Spontaneous Basal Cell Carcinoma Formation through STAT3-Mediated Gli1 Expression.

Activation of the hedgehog pathway is causative of virtually all sporadic and Gorlin syndrome-related basal cell carcinomas (BCCs), with loss of function of Ptc1 being the most common genomic lesion. Sporadic BCCs also overexpress Dsg2, a desmosomal cadherin normally found in the basal layer. Using a mouse model of Gorlin syndrome (Ptc1 mice), we found that overexpressing Dsg2 in the basal layer (K14-Dsg2/Ptc1 mice) or the superficial epidermis (Inv-Dsg2/Ptc1 mice) resulted in increased spontaneous BCC formation at 3 and 6 months, respectively.

Susceptibility MRI captures nigral pathology in patients with parkinsonian syndromes.

Background: Parkinsonisms are neurodegenerative disorders characterized pathologically by α-synuclein-positive (e.g., PD, diffuse Lewy body disease, and MSA) and/or tau-positive (e.

Enhancement of Cutaneous Wound Healing by Dsg2 Augmentation of uPAR Secretion.

In addition to playing a role in adhesion, desmoglein 2 (Dsg2) is an important regulator of growth and survival signaling pathways, cell proliferation, migration and invasion, and oncogenesis. Although low-level Dsg2 expression is observed in basal keratinocytes and is downregulated in nonhealing venous ulcers, overexpression has been observed in both melanomas and nonmelanoma malignancies. Here, we show that transgenic mice overexpressing Dsg2 in basal keratinocytes primed the activation of mitogenic pathways, but did not induce dramatic epidermal changes or susceptibility to chemical-induced tumor development.

c-Src/Cav1-dependent activation of the EGFR by Dsg2.

The desmosomal cadherin, desmoglein 2 (Dsg2), is deregulated in a variety of human cancers including those of the skin. When ectopically expressed in the epidermis of transgenic mice, Dsg2 activates multiple mitogenic signaling pathways and increases susceptibility to tumorigenesis. However, the molecular mechanism responsible for Dsg2-mediated cellular signaling is poorly understood.

Deep clinical and neuropathological phenotyping of Pick disease.

Objective: To characterize sequential patterns of regional neuropathology and clinical symptoms in a well-characterized cohort of 21 patients with autopsy-confirmed Pick disease.

Methods: Detailed neuropathological examination using 70μm and traditional 6μm sections was performed using thioflavin-S staining and immunohistochemistry for phosphorylated tau, 3R and 4R tau isoforms, ubiquitin, and C-terminally truncated tau. Patterns of regional tau deposition were correlated with clinical data.

Semi-Automated Digital Image Analysis of Pick's Disease and TDP-43 Proteinopathy.

Digital image analysis of histology sections provides reliable, high-throughput methods for neuropathological studies but data is scant in frontotemporal lobar degeneration (FTLD), which has an added challenge of study due to morphologically diverse pathologies. Here, we describe a novel method of semi-automated digital image analysis in FTLD subtypes including: Pick's disease (PiD, n=11) with tau-positive intracellular inclusions and neuropil threads, and TDP-43 pathology type C (FTLD-TDPC, n=10), defined by TDP-43-positive aggregates predominantly in large dystrophic neurites. To do this, we examined three FTLD-associated cortical regions: mid-frontal gyrus (MFG), superior temporal gyrus (STG) and anterior cingulate gyrus (ACG) by immunohistochemistry.