Pub Date : 2021-11-01Epub Date: 2021-11-08DOI: 10.17925/EE.2021.17.2.121
Krystallenia I Alexandraki, Paraskevi Xekouki
Craniopharyngiomas are rare benign neoplasms presenting in two different types, adamantinomatous (ACP) or papillary (PCP), which are molecularly and clinically distinct. Traditional treatment includes surgical resection and radiotherapy, which are accompanied by a number of debilitating complications because of the tumours' proximity to important brain structures. Recent advances in the understanding of molecular pathogenesis of craniopharyngiomas have opened horizons to medical therapeutic options. ACPs are mainly characterized by mutations of β-catenin, which activate Wingless/Int (Wnt), and alter the mitogen extracellular kinase (MEK)/extracellular signal-regulated kinase (ERK) pathway, as well as inflammatory, cellular senescence, programmed cell death and sonic hedgehog (SHH) pathways. PCPs are mainly characterized by Ras/Raf/MEK/ERK pathway activation secondary to BRAF-V600E mutations. MEK inhibitors, such as binimetinib, or anti-inflammatory mediators, such as tocilizumab or interferon, have been administered to patients with ACP and the efficacy is mostly favourable. On the other hand, BRAF inhibitors, such as dabrafenib or vemurafenib, either alone or in combination with the MEK inhibitors trametinib and cobimetinib, have been administered to patients with PCP resulting in favourable responses. A number of ongoing trials will shed light on schemes, doses, combined treatments and safety issues of the new molecular-targeted treatments, changing the management of patients with craniopharyngiomas by launching the era of personalized medicine in these rare neoplasms. We conducted a systematic review to identify case series or case reports with patients currently treated with systemic medical therapy.
{"title":"Medical Therapy for Craniopharyngiomas.","authors":"Krystallenia I Alexandraki, Paraskevi Xekouki","doi":"10.17925/EE.2021.17.2.121","DOIUrl":"https://doi.org/10.17925/EE.2021.17.2.121","url":null,"abstract":"<p><p>Craniopharyngiomas are rare benign neoplasms presenting in two different types, adamantinomatous (ACP) or papillary (PCP), which are molecularly and clinically distinct. Traditional treatment includes surgical resection and radiotherapy, which are accompanied by a number of debilitating complications because of the tumours' proximity to important brain structures. Recent advances in the understanding of molecular pathogenesis of craniopharyngiomas have opened horizons to medical therapeutic options. ACPs are mainly characterized by mutations of β-catenin, which activate Wingless/Int (Wnt), and alter the mitogen extracellular kinase (MEK)/extracellular signal-regulated kinase (ERK) pathway, as well as inflammatory, cellular senescence, programmed cell death and sonic hedgehog (SHH) pathways. PCPs are mainly characterized by Ras/Raf/MEK/ERK pathway activation secondary to <i>BRAF-V600E</i> mutations. MEK inhibitors, such as binimetinib, or anti-inflammatory mediators, such as tocilizumab or interferon, have been administered to patients with ACP and the efficacy is mostly favourable. On the other hand, BRAF inhibitors, such as dabrafenib or vemurafenib, either alone or in combination with the MEK inhibitors trametinib and cobimetinib, have been administered to patients with PCP resulting in favourable responses. A number of ongoing trials will shed light on schemes, doses, combined treatments and safety issues of the new molecular-targeted treatments, changing the management of patients with craniopharyngiomas by launching the era of personalized medicine in these rare neoplasms. We conducted a systematic review to identify case series or case reports with patients currently treated with systemic medical therapy.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"121-132"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676107/pdf/touchendo-17-121.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-01Epub Date: 2021-11-17DOI: 10.17925/EE.2021.17.2.92
Dimitrios G Chatzis, Konstantinos Kolokathis, Kalliopi Magounaki, Stefanos Chatzidakis, Konstantinos Avramidis, Marianna Leopoulou, Theodoros P Angelopoulos, John Doupis
Type 2 diabetes mellitus (T2DM) is a chronic disease with a constantly increasing prevalence worldwide. It is well established that T2DM affects both the macro- and microvasculature, and its presence is associated with a high risk of acute and chronic cardiovascular events. Traditionally, the management of T2DM has been mainly focused on the optimization of blood glucose levels with the use of antidiabetic medications. During recent years, however, an impressive accumulation of evidence has arisen from studies designed to explore the plausible effects of new antidiabetic drugs on cardiovascular outcomes in patients with diabetes. This review article aims to emphasize the findings of these studies and to highlight the substantial role of the newer classes of antidiabetic drugs in treating T2DM in a holistic, cardiorenal-metabolic approach, thus shifting the paradigm from the traditional, simplistic, glucose-lowering approach.
{"title":"Changing the Concept: From the Traditional Glucose-centric to the New Cardiorenal-metabolic Approach for the Treatment of Type 2 Diabetes.","authors":"Dimitrios G Chatzis, Konstantinos Kolokathis, Kalliopi Magounaki, Stefanos Chatzidakis, Konstantinos Avramidis, Marianna Leopoulou, Theodoros P Angelopoulos, John Doupis","doi":"10.17925/EE.2021.17.2.92","DOIUrl":"10.17925/EE.2021.17.2.92","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) is a chronic disease with a constantly increasing prevalence worldwide. It is well established that T2DM affects both the macro- and microvasculature, and its presence is associated with a high risk of acute and chronic cardiovascular events. Traditionally, the management of T2DM has been mainly focused on the optimization of blood glucose levels with the use of antidiabetic medications. During recent years, however, an impressive accumulation of evidence has arisen from studies designed to explore the plausible effects of new antidiabetic drugs on cardiovascular outcomes in patients with diabetes. This review article aims to emphasize the findings of these studies and to highlight the substantial role of the newer classes of antidiabetic drugs in treating T2DM in a holistic, cardiorenal-metabolic approach, thus shifting the paradigm from the traditional, simplistic, glucose-lowering approach.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"92-101"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676106/pdf/touchendo-17-92.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-01Epub Date: 2021-09-14DOI: 10.17925/EE.2021.17.2.112
Sherwyn Schwartz, Jean Lucas, Mark H DeLegge
Non-alcoholic steatohepatitis (NASH) is becoming a global disease with significant associated comorbidities. To date, there are no commercialized drugs to treat NASH, outside of India; however, there is an abundance of new molecular entities which are in clinical development, some in phase III trials. Many of these trials have created an especially heavy demand for USA-based subjects. Hepatologists currently play a major role in the diagnosis, treatment and clinical-trial enrolment of patients with NASH. However, NASH has a strong metabolic component, with patients often carrying comorbid diseases, such as type 2 diabetes mellitus, obesity, hyperlipidaemia, hypothyroidism and sex steroid disorders. The primary care physician, internist and endocrinologist stand at a pivotal position in the NASH healthcare delivery system, as many of the diseases they commonly encounter are associated with a higher risk of developing NASH. Specialty society practice guidelines are evolving regarding the identification and care of patients with NASH. This review of the literature, and assessment of IQVIA's proprietary patient claims database of diagnosis codes, patient encounters and treatments, substantiates the importance of the primary care provider and endocrinologist in the clinical care and clinical research of patients with NASH.
{"title":"Non-alcoholic Steatohepatitis: From Pathophysiology to Clinical Practice.","authors":"Sherwyn Schwartz, Jean Lucas, Mark H DeLegge","doi":"10.17925/EE.2021.17.2.112","DOIUrl":"10.17925/EE.2021.17.2.112","url":null,"abstract":"<p><p>Non-alcoholic steatohepatitis (NASH) is becoming a global disease with significant associated comorbidities. To date, there are no commercialized drugs to treat NASH, outside of India; however, there is an abundance of new molecular entities which are in clinical development, some in phase III trials. Many of these trials have created an especially heavy demand for USA-based subjects. Hepatologists currently play a major role in the diagnosis, treatment and clinical-trial enrolment of patients with NASH. However, NASH has a strong metabolic component, with patients often carrying comorbid diseases, such as type 2 diabetes mellitus, obesity, hyperlipidaemia, hypothyroidism and sex steroid disorders. The primary care physician, internist and endocrinologist stand at a pivotal position in the NASH healthcare delivery system, as many of the diseases they commonly encounter are associated with a higher risk of developing NASH. Specialty society practice guidelines are evolving regarding the identification and care of patients with NASH. This review of the literature, and assessment of IQVIA's proprietary patient claims database of diagnosis codes, patient encounters and treatments, substantiates the importance of the primary care provider and endocrinologist in the clinical care and clinical research of patients with NASH.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"112-120"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676103/pdf/touchendo-17-112.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-01Epub Date: 2021-08-04DOI: 10.17925/EE.2021.17.2.102
Chloe A Zera, Ellen W Seely
Gestational diabetes mellitus (GDM) complicates approximately 7% of pregnancies in the USA. Despite recognition of the benefits of diagnosing and treating GDM, there are several areas of controversy that remain unresolved. There is debate as to whether to screen for GDM with the one-step versus the two-step approach. While the former identifies more pregnancies with potential adverse outcomes, data are lacking as to whether treatment of these pregnancies will improve outcomes, while increasing costs by diagnosing more women. Though it is well established that the diagnosis of even mild GDM, and treatment with lifestyle recommendations and insulin, improves pregnancy outcomes, it is controversial as to which type and regimen of insulin is optimal, and whether oral agents can be used safely and effectively to control glucose levels. Finally, it is recommended that women with GDM get tested for type 2 diabetes within several months of delivery; however, many women do not undergo this testing and alternative approaches are needed. These controversies are discussed with data from both sides of the debate to enable clinicians to make patient-centered decisions until more definitive data are available.
{"title":"Controversies in Gestational Diabetes.","authors":"Chloe A Zera, Ellen W Seely","doi":"10.17925/EE.2021.17.2.102","DOIUrl":"https://doi.org/10.17925/EE.2021.17.2.102","url":null,"abstract":"<p><p>Gestational diabetes mellitus (GDM) complicates approximately 7% of pregnancies in the USA. Despite recognition of the benefits of diagnosing and treating GDM, there are several areas of controversy that remain unresolved. There is debate as to whether to screen for GDM with the one-step versus the two-step approach. While the former identifies more pregnancies with potential adverse outcomes, data are lacking as to whether treatment of these pregnancies will improve outcomes, while increasing costs by diagnosing more women. Though it is well established that the diagnosis of even mild GDM, and treatment with lifestyle recommendations and insulin, improves pregnancy outcomes, it is controversial as to which type and regimen of insulin is optimal, and whether oral agents can be used safely and effectively to control glucose levels. Finally, it is recommended that women with GDM get tested for type 2 diabetes within several months of delivery; however, many women do not undergo this testing and alternative approaches are needed. These controversies are discussed with data from both sides of the debate to enable clinicians to make patient-centered decisions until more definitive data are available.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"102-107"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676105/pdf/touchendo-17-102.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-01Epub Date: 2021-10-13DOI: 10.17925/EE.2021.17.2.133
Sabrina Sahni, Angie Lobo-Romero, Taryn Smith
Nearly 75% of all menopausal women experience bothersome vasomotor symptoms including hot flushes and night sweats. Yet vasomotor symptoms continue to be an undertreated and underdiagnosed symptom of menopause which can negatively affect a woman's overall quality of life. While hormone therapy has been widely utilized to ameliorate hot flushes, not all women are candidates for use, especially those with increased risk of cardiovascular disease, thromboembolic disease, and/or women at an increased risk of certain hormone-dependent cancers. The current literature provides strong evidence for non-hormonal therapies in women who experience vasomotor symptoms. This article reviews the evidence for the use of non-hormonal pharmacologic therapies for the treatment of menopausal symptoms including antidepressants, gabapentinoids, clonidine and anticholinergics. We also review data on emerging therapies including the latest evidence on neurokinin-1 and -3 antagonists. These therapies should be considered when hormonal options are contraindicated and/or not preferred by the patient. While there are many options available, clinicians should individualize therapy based on the patient's needs and goals while mitigating bothersome side effects.
{"title":"Contemporary Non-hormonal Therapies for the Management of Vasomotor Symptoms Associated with Menopause: A Literature Review.","authors":"Sabrina Sahni, Angie Lobo-Romero, Taryn Smith","doi":"10.17925/EE.2021.17.2.133","DOIUrl":"https://doi.org/10.17925/EE.2021.17.2.133","url":null,"abstract":"Nearly 75% of all menopausal women experience bothersome vasomotor symptoms including hot flushes and night sweats. Yet vasomotor symptoms continue to be an undertreated and underdiagnosed symptom of menopause which can negatively affect a woman's overall quality of life. While hormone therapy has been widely utilized to ameliorate hot flushes, not all women are candidates for use, especially those with increased risk of cardiovascular disease, thromboembolic disease, and/or women at an increased risk of certain hormone-dependent cancers. The current literature provides strong evidence for non-hormonal therapies in women who experience vasomotor symptoms. This article reviews the evidence for the use of non-hormonal pharmacologic therapies for the treatment of menopausal symptoms including antidepressants, gabapentinoids, clonidine and anticholinergics. We also review data on emerging therapies including the latest evidence on neurokinin-1 and -3 antagonists. These therapies should be considered when hormonal options are contraindicated and/or not preferred by the patient. While there are many options available, clinicians should individualize therapy based on the patient's needs and goals while mitigating bothersome side effects.","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"133-137"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676100/pdf/touchendo-17-133.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-01Epub Date: 2021-11-10DOI: 10.17925/EE.2021.17.2.84
Luis D'Marco, María Jesús Puchades, Lorena Gandía, Claudia Forquet, Elena Giménez-Civera, Nayara Panizo, Javier Reque, Isabel Juan-García, Valmore Bermúdez, José Luis Gorriz
Type 2 diabetes mellitus (T2DM) affects an estimated 463 million people worldwide, equivalent to 1 in 11 adults. Moreover, the rapid growth of this disease has resulted in a high incidence of diabetic kidney disease (DKD), which, together with hypertension, is the main cause of chronic kidney disease (CKD). Hyperglycaemia, low-grade inflammation, altered lipid metabolism and hyperactivation of the renin-angiotensin-aldosterone system (RAAS) seem to be interrelated mechanisms contributing to both T2DM and microvascular complications. The introduction of drugs such as sodium-glucose cotransporter 2 inhibitors and glucagon-like peptide 1 receptor agonists has improved the ability to slow the progression of DKD, and has also demonstrated benefits in cardiovascular disease. Beyond the effects of these novel antidiabetic drugs, a body of evidence suggests that the overactivation of the mineralocorticoid receptor also contributes to CKD progression. Moreover, new and ongoing trials have demonstrated that the selective nonsteroidal mineralocorticoid receptor antagonist (MRA) finerenone improves the risk of CKD progression and cardiovascular events in patients with CKD and T2DM and optimized RAAS blockade. We review the rationale for the development and use of MRA drugs to slow CKD progression in patients with DKD, as well as other pleiotropic effects, and highlight the warnings associated with these agents.
{"title":"Finerenone: A Potential Treatment for Patients with Chronic Kidney Disease and Type 2 Diabetes Mellitus.","authors":"Luis D'Marco, María Jesús Puchades, Lorena Gandía, Claudia Forquet, Elena Giménez-Civera, Nayara Panizo, Javier Reque, Isabel Juan-García, Valmore Bermúdez, José Luis Gorriz","doi":"10.17925/EE.2021.17.2.84","DOIUrl":"10.17925/EE.2021.17.2.84","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) affects an estimated 463 million people worldwide, equivalent to 1 in 11 adults. Moreover, the rapid growth of this disease has resulted in a high incidence of diabetic kidney disease (DKD), which, together with hypertension, is the main cause of chronic kidney disease (CKD). Hyperglycaemia, low-grade inflammation, altered lipid metabolism and hyperactivation of the renin-angiotensin-aldosterone system (RAAS) seem to be interrelated mechanisms contributing to both T2DM and microvascular complications. The introduction of drugs such as sodium-glucose cotransporter 2 inhibitors and glucagon-like peptide 1 receptor agonists has improved the ability to slow the progression of DKD, and has also demonstrated benefits in cardiovascular disease. Beyond the effects of these novel antidiabetic drugs, a body of evidence suggests that the overactivation of the mineralocorticoid receptor also contributes to CKD progression. Moreover, new and ongoing trials have demonstrated that the selective nonsteroidal mineralocorticoid receptor antagonist (MRA) finerenone improves the risk of CKD progression and cardiovascular events in patients with CKD and T2DM and optimized RAAS blockade. We review the rationale for the development and use of MRA drugs to slow CKD progression in patients with DKD, as well as other pleiotropic effects, and highlight the warnings associated with these agents.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"84-87"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676102/pdf/touchendo-17-84.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-01Epub Date: 2021-09-08DOI: 10.17925/EE.2021.17.2.138
Lucas Ribeiro Dos Santos, Erico Paulo Heilbrun, Charles Simões Félix, Márcio Luis Duarte
Congenital adrenal hyperplasia, an innate error in adrenal steroid biosynthesis, triggers a wide range of consequences based on the level of enzyme blockade. Due to the various forms of enzyme deficiency and degree of penetration, the clinical features are very variable. In this case report, we present a form of congenital adrenal hyperplasia due to an enzymatic defect of CYP17A1, with a late diagnosis. The recognition of this pathology should occur as early as possible to avoid sequelae, both metabolic and psychological.
{"title":"Congenital Adrenal Hyperplasia Due to 17-α-hydroxylase Deficiency: A Case Report.","authors":"Lucas Ribeiro Dos Santos, Erico Paulo Heilbrun, Charles Simões Félix, Márcio Luis Duarte","doi":"10.17925/EE.2021.17.2.138","DOIUrl":"https://doi.org/10.17925/EE.2021.17.2.138","url":null,"abstract":"<p><p>Congenital adrenal hyperplasia, an innate error in adrenal steroid biosynthesis, triggers a wide range of consequences based on the level of enzyme blockade. Due to the various forms of enzyme deficiency and degree of penetration, the clinical features are very variable. In this case report, we present a form of congenital adrenal hyperplasia due to an enzymatic defect of CYP17A1, with a late diagnosis. The recognition of this pathology should occur as early as possible to avoid sequelae, both metabolic and psychological.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"138-140"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676104/pdf/touchendo-17-138.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-01Epub Date: 2021-09-10DOI: 10.17925/EE.2021.17.2.108
Joshua J Baker, Barbara K Burton
Long-chain fatty-acid oxidation disorders (LC-FAODs) are autosomal recessive inherited metabolic conditions that occur due to a disruption in the body's ability to perform mitochondrial beta oxidation. Expanded newborn screening is widening phenotypic understanding of these disorders, as well improving our knowledge of disease incidence. Management of these disorders is focused on avoidance of fasting, dietary changes and supplementation with energy sources that bypass the metabolic block. Recent US Food and Drug Administration approval of triheptanoin has improved the outcome for affected individuals. New research into dietary modifications and novel pharmacologic therapies continues for these disorders. In this article, we review the major LC-FAODs and their clinical presentation.
{"title":"Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review.","authors":"Joshua J Baker, Barbara K Burton","doi":"10.17925/EE.2021.17.2.108","DOIUrl":"https://doi.org/10.17925/EE.2021.17.2.108","url":null,"abstract":"<p><p>Long-chain fatty-acid oxidation disorders (LC-FAODs) are autosomal recessive inherited metabolic conditions that occur due to a disruption in the body's ability to perform mitochondrial beta oxidation. Expanded newborn screening is widening phenotypic understanding of these disorders, as well improving our knowledge of disease incidence. Management of these disorders is focused on avoidance of fasting, dietary changes and supplementation with energy sources that bypass the metabolic block. Recent US Food and Drug Administration approval of triheptanoin has improved the outcome for affected individuals. New research into dietary modifications and novel pharmacologic therapies continues for these disorders. In this article, we review the major LC-FAODs and their clinical presentation.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 2","pages":"108-111"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8676101/pdf/touchendo-17-108.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-04-01Epub Date: 2021-04-28DOI: 10.17925/EE.2021.17.1.68
Mandeep Singla, Jaspreet Kaur Saini
We describe the case report of 36-year-old female who presented to the emergency department with diabetic ketoacidosis. On detailed clinical examination, coarse facial features in the form of large fleshy nose, thick lips, prognathism, and thickening of hands and feet were noticed, suggestive of acromegaly. Subsequently, she was diagnosed with acromegaly due to somatotropinoma. Impaired glucose tolerance and diabetes mellitus are frequently associated with acromegaly. Persistent growth hormone excess impairs insulin sensitivity, increases gluconeogenesis, reduces glucose uptake in adipose tissue and muscle, and alters pancreatic β-cell function. Rarely, diabetic ketoacidosis can be the presenting manifestation, as seen in this case.
{"title":"Diabetes Mellitus of Pituitary Origin: A Case Report.","authors":"Mandeep Singla, Jaspreet Kaur Saini","doi":"10.17925/EE.2021.17.1.68","DOIUrl":"10.17925/EE.2021.17.1.68","url":null,"abstract":"<p><p>We describe the case report of 36-year-old female who presented to the emergency department with diabetic ketoacidosis. On detailed clinical examination, coarse facial features in the form of large fleshy nose, thick lips, prognathism, and thickening of hands and feet were noticed, suggestive of acromegaly. Subsequently, she was diagnosed with acromegaly due to somatotropinoma. Impaired glucose tolerance and diabetes mellitus are frequently associated with acromegaly. Persistent growth hormone excess impairs insulin sensitivity, increases gluconeogenesis, reduces glucose uptake in adipose tissue and muscle, and alters pancreatic β-cell function. Rarely, diabetic ketoacidosis can be the presenting manifestation, as seen in this case.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 1","pages":"68-70"},"PeriodicalIF":0.0,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320005/pdf/touchendo-17-68.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-04-01Epub Date: 2021-04-28DOI: 10.17925/EE.2021.17.1.71
Inês Isabel Ferreira Barros, Fernando Manso, Margarida Teixeira, Maria Ramires Silva Lopes Pereira
An adrenal oncocytic neoplasm is an extremely rare tumour arising from the adrenal gland and it should be considered in the differential diagnosis of an adrenal incidentaloma, since it is frequently non-functioning. The suspicion for malignancy is high when an adrenal incidentaloma is >4 cm in size; however, adrenal oncocytomas are large, measuring an average of 8 cm, are round and encapsulated, and normally have a benign behaviour. We present a case of a 55-year-old male patient with dyslipidaemia, medicated with simvastatin. Upon complaints of abdominal pain, the general physician asked for an abdominal ultrasound that revealed an adrenal lesion, further characterized with a computed tomography scan, which showed an adrenal lesion measuring 49 × 64 × 56 mm and a calcification focus. The patient was referred to the general surgery and endocrinology department. The analytical study was negative for pheochromocytoma or Cushing's syndrome, which allowed surgery to be conducted, as is recommended. The aim of this case report is to contribute to the knowledge on adrenal oncocytomas, since there is scarce information based on singular experiences.
{"title":"Case Report of a Rare Adrenocortical Oncocytoma Suspected to be an Adrenal Carcinoma.","authors":"Inês Isabel Ferreira Barros, Fernando Manso, Margarida Teixeira, Maria Ramires Silva Lopes Pereira","doi":"10.17925/EE.2021.17.1.71","DOIUrl":"10.17925/EE.2021.17.1.71","url":null,"abstract":"<p><p>An adrenal oncocytic neoplasm is an extremely rare tumour arising from the adrenal gland and it should be considered in the differential diagnosis of an adrenal incidentaloma, since it is frequently non-functioning. The suspicion for malignancy is high when an adrenal incidentaloma is >4 cm in size; however, adrenal oncocytomas are large, measuring an average of 8 cm, are round and encapsulated, and normally have a benign behaviour. We present a case of a 55-year-old male patient with dyslipidaemia, medicated with simvastatin. Upon complaints of abdominal pain, the general physician asked for an abdominal ultrasound that revealed an adrenal lesion, further characterized with a computed tomography scan, which showed an adrenal lesion measuring 49 × 64 × 56 mm and a calcification focus. The patient was referred to the general surgery and endocrinology department. The analytical study was negative for pheochromocytoma or Cushing's syndrome, which allowed surgery to be conducted, as is recommended. The aim of this case report is to contribute to the knowledge on adrenal oncocytomas, since there is scarce information based on singular experiences.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":"17 1","pages":"71-74"},"PeriodicalIF":0.0,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320013/pdf/touchendo-17-71.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39888368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}