A5043026082- Growth Hormone and Insulin-like Growth Factors
- Pituitary Gland Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Adrenal Hormones and Disorders
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Neuroendocrine Tumor Research Advances
- Lipid metabolism and disorders
- Hormonal Regulation and Hypertension
- Diet and metabolism studies
- Glioma Diagnosis and Treatment
- Thyroid Disorders and Treatments
- Pancreatic function and diabetes
- Meningioma and schwannoma management
- Sexual Differentiation and Disorders
- Birth, Development, and Health
- Neuroblastoma Research and Treatments
- Cancer, Hypoxia, and Metabolism
- Diabetes and associated disorders
- Regulation of Appetite and Obesity
- Childhood Cancer Survivors' Quality of Life
- Ophthalmology and Eye Disorders
- Cancer Immunotherapy and Biomarkers
- Head and Neck Surgical Oncology
- Congenital Diaphragmatic Hernia Studies
Johns Hopkins Medicine
2016-2025
Johns Hopkins University
2016-2025
Johns Hopkins Hospital
2010-2023
Fondazione IRCCS Istituto Nazionale dei Tumori
2020
University of Baltimore
2017
University of Teramo
2017
Salk Institute for Biological Studies
2017
Miami Hand Center
2016
Sardegna Ricerche (Italy)
2008-2014
University of Rome Tor Vergata
2013
To formulate clinical practice guidelines for hormonal replacement in hypopituitarism adults.The participants include an Endocrine Society-appointed Task Force of six experts, a methodologist, and medical writer. The American Association Clinical Chemistry, the Pituitary Society, European Society Endocrinology co-sponsored this guideline.The developed evidence-based guideline using Grading Recommendations, Assessment, Development, Evaluation system to describe strength recommendations...
AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs in familial isolated adenomas and less often sporadic cases. The clinical therapeutic features of AIPmut-associated have not been studied comprehensively.The objective the study was assess clinical/therapeutic characteristics AIPmut adenomas.This an international, multicenter, retrospective case collection/database analysis.The conducted at 36 tertiary referral endocrine genetics departments.Patients included...
Abstract Objective The aim of the Acromegaly Consensus Group was to revise and update consensus on diagnosis treatment acromegaly comorbidities last published in 2013. Participants Group, convened by 11 Steering Committee members, consisted 45 experts medical surgical management acromegaly. authors received no corporate funding or remuneration. Evidence This evidence-based developed using Grading Recommendations, Assessment, Development, Evaluation (GRADE) system describe both strength...
Despite being a classical growth disorder, pituitary gigantism has not been studied previously in standardized way. We performed retrospective, multicenter, international study to characterize large series of patients. included 208 patients (163 males; 78.4%) with hormone excess and current/previous abnormal velocity for age or final height >2 s.d. above country normal means. The median onset rapid was 13 years occurred significantly earlier females than adenomas were diagnosed males...
Abstract Purpose The 14th Acromegaly Consensus Conference was convened to consider biochemical criteria for acromegaly diagnosis and evaluation of therapeutic efficacy. Methods Fifty-six experts from 16 countries reviewed discussed current evidence focused on assays; the role imaging, pathology, clinical assessments; consequences diagnostic delay; remission recommendations follow up; value assessment monitoring in defining disease progression, selecting appropriate treatments, maximizing...
Isolated growth hormone (GH) deficiency (IGHD) is a rare cause of short stature.The same mutation the gene encoding hormone-releasing receptor (GHRHR) has been identified as basis for IGHD in three families from Indian subcontinent.The prevalence and heterogeneity defects GHRHR are not known.Twenty-two dwarf members large, extended kindred containing at least 105 affected with autosomal recessive stature underwent extensive endocrine evaluation, which confirmed markedly reduced or...
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari Verma Daly AF, Raygada Keil Papademetriou J, Drori‐Herishanu L, Horvath A, Tsang KM, Nesterova Franklin Vanbellinghen J‐F, Bours V, Salvatori R, Beckers A. The role of germline AIP , MEN1, PRKAR1A CDKN1B and CDKN2C mutations in causing pituitary adenomas a large cohort children, adolescents, patients with genetic syndromes. prevalence MEN1 CDKN2CI is unknown among pediatric (PA). In this study, we screened children PA for...
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which highly upregulated in tumors. We conducted this study to explore clinical, radiological, and hormonal phenotype responses therapy patients with X-LAG syndrome. The included 18 (13 sporadic) microduplication Xq26.3. All sporadic cases had unique duplications inheritance pattern two families was dominant, all Xq26.3 duplication carriers...
GH secretion declines with age, possibly contributing to reduced muscle mass, strength, and function. secretagogues (GHS) may increase mass physical performance. We conducted a randomized, double-masked, placebo-controlled, multicenter study investigate the hormonal, body composition, performance effects safety of orally active GHS capromorelin in older adults mild functional limitation. INTERVENTION/PARTICIPANTS: A total 395 men women aged 65-84 yr were randomized for an intended 2...
We examine the impact of targeted disruption growth hormone-releasing hormone (GHRH) in mice on longevity and putative mechanisms delayed aging. GHRH knockout are remarkably long-lived, exhibiting major shifts expression genes related to xenobiotic detoxification, stress resistance, insulin signaling. These mutant also have increased adiponectin levels alterations glucose homeostasis consistent with removal counter-insulin effects hormone. While these overlap those caloric restriction, we...
The chronic myeloproliferative disorders (MPD) are clonal hematopoietic stem cell of unknown etiology. We have reported defective thrombopoietin receptor (Mpl) protein expression in MPD patients. To determine whether the basis abnormal Mpl was due to mutations gene, we sequenced cDNA from found a single nucleotide substitution (G1238T) that results change lysine asparagine at amino acid 39 (K39N) three African-American women referred for an evaluation MPD. subsequently screened more than 400...
The proliferation of pituitary somatotroph cells and the synthesis secretion GH are under stimulatory control hypothalamic peptide GHRH. GHRH is initially synthesized as pre-prohormone then enzymatically cleaved to its mature form (44 amino acids in humans 42 mice). Although mutations receptor cause isolated deficiency (IGHD) both mice, gene have never been described. To determine consequences generalized lack GHRH, we created a mouse with targeted disruption (knockout) (GHRHKO). We...
Reduced longevity observed in hypopituitarism has been attributed to GH deficiency (GHD). It is, however, unclear whether GHD or other confounding factors cause this early mortality.The aim was study subjects from a large kindred with untreated, lifetime isolated (IGHD) due homozygous mutation the GHRH receptor gene and heterozygous carriers of mutation.We carried out retrospective cohort on three groups. We first compared mortality risk 65 IGHD individuals their 128 unaffected siblings 34...