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Endocrinology and Metabolism Clinics of North America

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https://www.readbyqxmd.com/read/28476238/genetics-and-the-new-precision-medicine-and-endocrinology-in-medias-res-or-ab-initio
#1
EDITORIAL
Constantine A Stratakis
No abstract text is available yet for this article.
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476237/updates-in-the-genetics-of-endocrine-disorders
#2
EDITORIAL
Anat Ben-Shlomo, Maria Fleseriu
No abstract text is available yet for this article.
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476236/genetics-of-lipodystrophy
#3
REVIEW
Marissa Lightbourne, Rebecca J Brown
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs. Genetic discoveries have been particularly helpful in understanding the pathophysiology of these diseases, and have shown that mutations affect pathways involved in adipocyte differentiation and survival, lipid droplet formation, and lipid synthesis...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476235/genetics-of-disorders-of%C3%A2-sex-development-the-dsd-trn-experience
#4
REVIEW
Emmanuèle C Délot, Jeanette C Papp, David E Sandberg, Eric Vilain
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476234/clinical-implications-for-germline-pten-spectrum-disorders
#5
REVIEW
Joanne Ngeow, Kaitlin Sesock, Charis Eng
Patients with PTEN hamartoma tumor syndrome (PHTS) may present to a variety of different subspecialties with benign and malignant clinical features. They have increased lifetime risks of breast, endometrial, thyroid, renal, and colon cancers, as well as neurodevelopmental disorders such as autism spectrum disorder. Patients and affected family members can be offered gene-directed surveillance and management. Patients who are unaffected can be spared unnecessary investigations. With longitudinal follow-up, we are likely to identify other non-cancer manifestations associated with PHTS such as metabolic, immunologic, and neurologic features...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476233/genetics-of-multiple-endocrine-neoplasia-type-1-multiple-endocrine-neoplasia-type-2-syndromes
#6
REVIEW
Samuel M Hyde, Gilbert J Cote, Elizabeth G Grubbs
Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is an important part of identifying affected patients and their family members. Understanding of these mature syndromes is challenged as more individuals undergo genetic testing and genetic data are amassed, with the potential to create clinical conundrums that may have an impact on individualized approaches to management and counseling...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476232/genetics-of-pheochromocytomas-and-paragangliomas-an-overview-on-the-recently-implicated-genes-mertk-met-fibroblast-growth-factor-receptor-1-and-h3f3a
#7
REVIEW
Rodrigo Almeida Toledo
Genomic studies conducted by different centers have uncovered various new genes mutated in pheochromocytomas and paragangliomas (PPGLs) at germline, mosaic, and/or somatic levels, greatly expanding our knowledge of the genetic events occurring in these tumors. The current review focuses on very new findings and discusses the previously not recognized role of MERTK, MET, fibroblast growth factor receptor 1, and H3F3A genes in syndromic and nonsyndromic PPGLs. These 4 new genes were selected because although their association with PPGLs is very recent, mounting evidence was generated that rapidly consolidated the prominence of these genes in the molecular pathogenesis of PPGLs...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476231/genetics-of-congenital-adrenal-hyperplasia
#8
REVIEW
Fady Hannah-Shmouni, Wuyan Chen, Deborah P Merke
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with more than 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is an important tool in confirming the diagnosis or carrier state, provides prognostic information on disease severity, and is essential for genetic counseling. In this article, the authors provide an in-depth discussion on the genetics of CAH, including genetic diagnosis, molecular analysis, genotype-phenotype relationships, and counseling of patients and their families...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476230/genetics-of-adrenocortical-development-and-tumors
#9
REVIEW
Maya Lodish
This article links the understanding of developmental physiology of the adrenal cortex to adrenocortical tumor formation. Many molecular mechanisms that lead to formation of adrenocortical tumors have been discovered via next-generation sequencing approaches. The most frequently mutated genes in adrenocortical tumors are also factors in normal adrenal development and homeostasis, including those that alter the p53 and Wnt/β-catenin pathways. In addition, dysregulated protein kinase A signaling and ARMC5 mutations have been identified as key mediators of adrenocortical tumorigenesis...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476229/genetics-of-hyperparathyroidism-including-parathyroid-cancer
#10
REVIEW
William F Simonds
Primary hyperparathyroidism (HPT) is a metabolic disease caused by the excessive secretion of parathyroid hormone from 1 or more neoplastic parathyroid glands. HPT is largely sporadic, but it can be associated with a familial syndrome. The study of such families led to the discovery of tumor suppressor genes whose loss of function is now recognized to underlie the development of many sporadic parathyroid tumors. Heritable and acquired oncogenes causing parathyroid neoplasia are also known. Studies of somatic changes in parathyroid tumor DNA and investigation of kindreds with unexplained familial HPT promise to unmask more genes relevant to parathyroid neoplasia...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476228/molecular-genetics-of-thyroid-cancer-in-children-and-adolescents
#11
REVIEW
Andrew J Bauer
There has been a steady incorporation of powerful new molecular tools into the evaluation and management of thyroid nodules and thyroid cancer. With an increasing incidence of nodules and differentiated thyroid cancer (DTC) being diagnosed in children and adolescents, oncogene data are providing insight into the clinical differences between pediatric and adult patients with histologically similar DTC. However, additional investment and efforts are needed to define the genomic landscape for pediatric DTC with the goal of improving preoperative diagnostic accuracy as well as stratifying treatment in an effort to reduce complications of therapy...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476227/defects-of-thyroid-hormone-synthesis-and-action
#12
REVIEW
Zeina C Hannoush, Roy E Weiss
Congenital hypothyroidism (CH) is the most common inborn endocrine disorder and causes significant morbidity. To date, we are only aware of the molecular basis responsible for the defects in a small portion of patients with CH. A better understanding of the pathophysiology of these cases at the genetic and molecular basis provides useful information for proper counseling to patients and their families a well as for the development of better targeted therapies. This article provides a succinct outline of the pathophysiology and genetics of the known causes of thyroid dysgenesis, dyshormonogenesis, and syndrome of impaired sensitivity to thyroid hormone...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476226/genetic-aspects-of-pituitary-adenomas
#13
REVIEW
Pedro Marques, Márta Korbonits
Although most of pituitary adenomas are benign, they may cause significant burden to patients. Sporadic adenomas represent the vast majority of the cases, where recognized somatic mutations (eg, GNAS or USP8), as well as altered gene-expression profile often affecting cell cycle proteins have been identified. More rarely, germline mutations predisposing to pituitary adenomas -as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the pituitary (AIP or GPR101) can be identified. These alterations influence the biological behavior, clinical presentations and therapeutic responses, and their full understanding helps to provide appropriate care for these patients...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476225/genetics-of-diabetes-insipidus
#14
REVIEW
Marie Helene Schernthaner-Reiter, Constantine A Stratakis, Anton Luger
Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy.
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476224/molecular-and-genetic-aspects-of-congenital-isolated-hypogonadotropic-hypogonadism
#15
REVIEW
Lorena Guimaraes Lima Amato, Ana Claudia Latronico, Leticia Ferreira Gontijo Silveira
Congenital isolated hypogonadotropic hypogonadism (IHH) is a clinically and genetically heterogenous disorder characterized by abnormal synthesis, secretion, or action of gonadotropin-releasing hormone, a key hypothalamic decapeptide that orchestrates the reproductive axis. Several modes of inheritance have been identified. A growing list of causative genes has been implicated in the molecular pathogenesis of syndromic and nonsyndromic IHH, largely contributing for better understanding the complex neuroendocrine control of reproduction...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476223/genetics-of-short-stature
#16
REVIEW
Youn Hee Jee, Anenisia C Andrade, Jeffrey Baron, Ola Nilsson
Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28476222/pituitary-hypoplasia
#17
REVIEW
Mariam Gangat, Sally Radovick
This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POU1F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well described in the literature in terms of clinical characterization of affected patients and molecular mechanisms of action, and therefore, are very relevant to clinical practice...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28131141/an-introduction-to-the-bone-disorders-issue
#18
EDITORIAL
Albert Shieh
No abstract text is available yet for this article.
March 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28131140/erratum
#19
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28131139/foreword
#20
EDITORIAL
Anat Ben-Shlomo, Maria Fleseriu
No abstract text is available yet for this article.
March 2017: Endocrinology and Metabolism Clinics of North America
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