A5014881039- Sexual Differentiation and Disorders
- Urological Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- Asthma and respiratory diseases
- Sperm and Testicular Function
- DNA Repair Mechanisms
- Pancreatic function and diabetes
- Ethics and bioethics in healthcare
- Genomic variations and chromosomal abnormalities
- Urologic and reproductive health conditions
- Osteoarthritis Treatment and Mechanisms
- Parasites and Host Interactions
- RNA and protein synthesis mechanisms
- Diabetes Management and Research
- Muscle and Compartmental Disorders
- Bone health and treatments
- Adolescent Sexual and Reproductive Health
- Ethics and Legal Issues in Pediatric Healthcare
- Eosinophilic Disorders and Syndromes
- Sports Performance and Training
- Invertebrate Immune Response Mechanisms
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Platelet Disorders and Treatments
- Protease and Inhibitor Mechanisms
Barbara Bush Children’s Hospital
2023
Maine Medical Center
2019-2023
C. S. Mott Children's Hospital
2023
University of Michigan
2023
Boston Children's Hospital
2014-2019
Boston Children's Museum
2019
Midwestern University
2017
Montefiore Medical Center
2016
Harvard University
2016
Endocrinology Research Center
2016
Abstract Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. Objective: We sought to characterize phenotypic spectrum and response growth-promoting therapies. Patients Methods: One hundred three individuals (57 females, 46 males) from 20 families heterozygous ACAN were identified confirmed using whole-exome sequencing, targeted next-generation and/or Sanger sequencing. Clinical information was collected...
<b><i>Background:</i></b> A variant in steroidogenic factor-1 (SF-1, encoded by the gene <i>NR5A1</i>), p.Arg92Trp, has recently been reported multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts DNA-binding domain and perturbs gonadal differentiation pathways. <b><i>Methods:</i></b> Whole-exome sequencing was performed on a subject DSD....
Abstract A critical role for eosinophils in remodeling of allergic airways was observed vivo upon disruption the dblGATA enhancer that regulates expression GATA-1, which resulted an eosinophil-deficient phenotype ΔdblGATA mouse. We demonstrate here bone marrow progenitors isolated from mice can differentiate into mature when subjected to cytokine stimulation ex vivo. Cultured contain cytoplasmic granules with immunoreactive major basic protein and they express surface Siglec F transcripts...
We evaluated demographic, financial and support predictors of distress for parents young children with disorders sex development including atypical genital development, characterized early parental experiences. This work extends our previous findings to identify those at risk distress.Participants included mothers (76) fathers (63) a child (78) diagnosed by moderate severe atypia. Parents completed demographic questionnaire, measures anxious depressive symptoms, quality life, illness...
Abstract Plasminogen activator inhibitor-2 (PAI-2) as a potential eosinophil protein was inferred from our gene microarray study of mouse eosinophilopoiesis. Here, we detect 47 kDa intracellular and ∼60 secretory forms PAI-2 in purified human extracts. is present at variable concentrations lysates, ranging 30 to 444 ng/106 cells, with mean 182 cells 10 normal donors, which the highest per-cell concentration among all leukocyte subtypes evaluated. Enzymatic assay confirmed that...
Objective. In response to the current CDC recommendations for routine HIV testing in clinical settings, Adolescent AIDS Program at Montefiore Medical Center Bronx, New York, developed Advise, Consent, Test, Support model (ACTS) 2003. ACTS was piloted 10 community health centers operated by because they serve populations most risk HIV/AIDS. Methods. streamlined and codified counseling process, provided a practice change plan, training communication materials that promoted testing. To...
<b><i>Background:</i></b> Undervirilized 46,XY males with bifid scrotum often pose a diagnostic challenge, and the majority of cases typically do not receive genetic diagnosis. <i>NR5A1</i> mutations can be seen in 10-20% are relatively common cause undervirilization. <b><i>Methods:</i></b> Whole-exome sequencing was utilized to study 10 undervirilized subjects scrotum. <b><i>Results:</i></b> Exome identified...
<b><i>Background:</i></b> Cockayne syndrome is an autosomal recessive, heterogeneous with classical features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular diagnostic potential. <b><i>Methods:</i></b> Whole-exome sequencing was employed to study a consanguineous extended family severe stature variable presentations of peripheral lipoatrophy,...
Case Report: Rehabilitation of a 65 Year-Old Female with Statin-Induced Rhabdomyolysis Jonathan Swartz, DPT; Donna Cech, PT, DHS, PCS; Christian C Evans, PhD; James Donahue, DPT Abstract Statin-induced rhabdomyolysis is debilitating condition muscle breakdown that can lead to severe functional limitations. Prior reports physical therapy treatment have focused on athletes and military personal following acute exertional rhabdomyolysis, however there minimal information for statin-induced in...
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mutations gene for heterozygous hepatocyte nuclear transcription factor 4-alpha (HNF4A) account approximately 5% cases and are inherited an autosomal dominant fashion or arise as de novo mutations. This case describes a unique presentation parental gonadal, germline, mosaicism suspected inheritance pattern siblings with congenital caused by HNF4A Two presented first hours life were subsequently...
Abstract Children with hepatoblastoma have an increased incidence of fractures, but data are limited. Previous reports document average 4 fractures per child hepatoblastoma. We present a severe case premature 4-month-old multiple in the setting Beckwith-Wiedemann syndrome and Although prematurity is known risk for metabolic bone disease, it did not entirely explain severity. Our patient underwent chemotherapy surgical resection his Once deemed stable, he received dose zoledronic acid (ZA)....