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1.
Eur J Endocrinol ; 183(5): R149-R166, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33107433

RESUMO

Obesity, defined by an excess of body fat impacting on health, is a complex disease resulting from the interaction between many genetic/epigenetic factors and environmental triggers. For some clinical situations with severe obesity, it has been possible to classify these obesity forms according to the molecular alterations. These include: (i) syndromic obesity, which associates severe early-onset obesity with neurodevelopmental disorders and/or polymalformative syndrome and (ii) non-syndromic monogenic obesity, due to gene variants most often located in the leptin-melanocortin pathway. In addition to severe obesity, patients affected by these diseases display complex somatic conditions, eventually including obesity comorbidities, neuropsychological and psychiatric disorders. These conditions render the clinical management of these patients particularly challenging. Patients' early diagnosis is critical to allow specialized and multidisciplinary care, with a necessary interaction between the health and social sectors. Up to now, the management of genetic obesity was only based, above all, on controlling the patient's environment, which involves limiting access to food, ensuring a reassuring daily eating environment that limits impulsiveness, and the practice of adapted, supported, and supervised physical activity. Bariatric surgery has also been undertaken in genetic obesity cases with uncertain outcomes. The context is rapidly changing, as new innovative therapies are currently being tested both for syndromic and monogenic forms of obesity. This review focuses on care management and new therapeutic opportunities in genetic obesity, including the use of the melanocortin 4 agonist, setmelanotide. The results from ongoing trials will hopefully pave the way to a future precision medicine approach for genetic obesity.


Assuntos
Cirurgia Bariátrica/tendências , Endocrinologia/tendências , Obesidade Mórbida/terapia , Obesidade/terapia , Adulto , Fármacos Antiobesidade/uso terapêutico , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Obesidade/genética , Obesidade Mórbida/genética , Síndrome , alfa-MSH/análogos & derivados , alfa-MSH/uso terapêutico
3.
Eur J Endocrinol ; 183(4): R95-106, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32621590

RESUMO

Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within the collagen biosynthesis pathway or are involved in osteoblast differentiation and bone mineralization. Clinically, OI is heterogeneous in features and variable in severity. In addition to the skeletal findings, it can affect multiple systems including dental and craniofacial abnormalities, muscle weakness, hearing loss, respiratory and cardiovascular complications. A multi-disciplinary approach to care is recommended to address not only the fractures, reduced mobility, growth and bone pain but also other extra-skeletal manifestations. While bisphosphonates remain the mainstay of treatment in OI, new strategies are being explored, such as sclerostin inhibitory antibodies and TGF beta inhibition, to address not only the low bone mineral density but also the inherent bone fragility. Studies in animal models have expanded the understanding of pathomechanisms of OI and, along with ongoing clinical trials, will allow to develop better therapeutic approaches for these patients.


Assuntos
Endocrinologia/tendências , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/terapia , Animais , Endocrinologia/métodos , Fraturas Ósseas/diagnóstico , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Fraturas Ósseas/terapia , Humanos , Osteogênese/fisiologia , Osteogênese Imperfeita/epidemiologia , Osteogênese Imperfeita/patologia
5.
Diabetes Metab Syndr ; 14(5): 767-771, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32521463

RESUMO

BACKGROUND AND AIMS: The novel coronavirus disease (COVID-19) pandemic and the resulting nationwide lockdowns have posed a major challenge to the management of pre-existing and newly diagnosed endocrine disorders. Herein, we have summarized the management approaches of common endocrine disorders amid the ongoing pandemic. METHODS: We have performed an extensive literature search for articles in PubMed, EMBASE and Google Scholar databases till 25 May 2020, with the following keywords: "COVID-19", "diabetes mellitus", "thyroid disorders", "primary adrenal insufficiency", "Cushing's syndrome", "pituitary tumors", "vitamin D″", "osteoporosis", "primary hyperparathyroidism", "hypoparathyroidism", "management", "treatment" and "guidelines" with interposition of the Boolean operator "AND". RESULTS: We have summarized the most feasible strategies for the management of diabetes mellitus, thyroid disorders, primary adrenal insufficiency (including congenital adrenal hyperplasia), Cushing's syndrome, pituitary tumors, osteoporosis, primary hyperparathyroidism and hypoparathyroidism amid the constraints laid down by the raging pandemic. In general, medical management should be encouraged and surgical interventions should be deferred whenever possible. Ongoing medications should be continued. Sick-day rules should be sincerely adhered to. Regular contact with physicians can be maintained through teleconsultations and virtual clinics. CONCLUSIONS: Considering the burden of endocrine disorders in the general population, their management needs to be prioritized amid the ongoing COVID-19 pandemic.


Assuntos
Infecções por Coronavirus/epidemiologia , Doenças do Sistema Endócrino/terapia , Endocrinologia/métodos , Pandemias , Pneumonia Viral/epidemiologia , Betacoronavirus/fisiologia , Infecções por Coronavirus/complicações , Doenças do Sistema Endócrino/complicações , Doenças do Sistema Endócrino/epidemiologia , Endocrinologia/organização & administração , Endocrinologia/tendências , Humanos , Pneumonia Viral/complicações , Guias de Prática Clínica como Assunto
11.
Minerva Endocrinol ; 45(3): 204-227, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32548995

RESUMO

The 2019 Coronavirus disease (COVID-19) pandemic has disrupted the social, economical and medical system worldwide. Although it is strictly an infectious disease, its intricate bidirectional relationship with various non-communicable metabolic diseases and endocrinological factors has been observed. While diabetes, hypertension, obesity have been found to be independent risk factors for COVID-19 disease severity and mortality, more inclination towards sedentary lifestyle, psychosocial stress at this critical time may be the harbingers of metabolic syndrome. Thus, endocrinologists have a great opportunity to play their role to combat this pandemic. This paper examines how various endocrinological disorders influence the dynamics of COVID-19 and vice versa. Moreover, it also intends to review the clinical guidelines to be adopted in practice of endocrinology in this trying time.


Assuntos
Infecções por Coronavirus , Doenças do Sistema Endócrino/prevenção & controle , Endocrinologia/tendências , Pandemias , Pneumonia Viral , Infecções por Coronavirus/complicações , Promoção da Saúde , Humanos , Estilo de Vida , Pneumonia Viral/complicações , Fatores de Risco
12.
Eur J Endocrinol ; 183(2): G79-G88, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32554825

RESUMO

In viral pandemics, most specifically Covid-19, many patients with neuroendocrine neoplasms (NENs), including phaeochromocytomas, paragangliomas and medullary thyroid carcinoma, may develop Covid-19 in a mild or severe form, or be concerned about the influence of viral infection relative to their anti-tumoral therapy. In general, newly presenting patients should be assessed, and patients recently receiving chemotherapy, targeted therapy or radionuclide therapy, or showing tumour growth, should be closely followed. For previously diagnosed patients, who have indolent disease, some delay in routine follow-up or treatment may not be problematic. However, patients developing acute secretory syndromes due to functional neuroendocrine neoplasms (such as of the pancreas, intestine or lung), phaeochromocytomas and paragangliomas, will require prompt treatment. Patients with life-threatening Covid-19-related symptoms should be urgently treated and long-term anti-tumoral treatments may be temporarily delayed. In patients with especially aggressive NENs, a careful judgement should be made regarding the severity of any Covid-19 illness, tumour grade, and the immunosuppressant effects of any planned chemotherapy, immunotherapy (e.g. interferon-alpha), targeted therapy or related treatment. In other cases, especially patients with completely resected NENs, or who are under surveillance for a genetic disorder, a telephone or delayed consultation may be in order, balancing the risk of a delay against that of the possible development of Covid-19.


Assuntos
Betacoronavirus , Infecções por Coronavirus/terapia , Gerenciamento Clínico , Tumores Neuroendócrinos/terapia , Pneumonia Viral/terapia , Telemedicina/tendências , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Endocrinologia/métodos , Endocrinologia/tendências , Humanos , Gradação de Tumores/métodos , Gradação de Tumores/tendências , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/epidemiologia , Pandemias , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Telemedicina/métodos
15.
Eur J Endocrinol ; 183(2): G67-G77, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32508313

RESUMO

The COVID-19 pandemic is a major international emergency leading to unprecedented medical, economic and societal challenges. Countries around the globe are facing challenges with diabetes care and are similarly adapting care delivery, with local cultural nuances. People with diabetes suffer disproportionately from acute COVID-19 with higher rates of serious complications and death. In-patient services need specialist support to appropriately manage glycaemia in people with known and undiagnosed diabetes presenting with COVID-19. Due to the restrictions imposed by the pandemic, people with diabetes may suffer longer-term harm caused by inadequate clinical support and less frequent monitoring of their condition and diabetes-related complications. Outpatient management need to be reorganised to maintain remote advice and support services, focusing on proactive care for the highest risk, and using telehealth and digital services for consultations, self-management and remote monitoring, where appropriate. Stratification of patients for face-to-face or remote follow-up should be based on a balanced risk assessment. Public health and national organisations have generally responded rapidly with guidance on care management, but the pandemic has created a tension around prioritisation of communicable vs non-communicable disease. Resulting challenges in clinical decision-making are compounded by a reduced clinical workforce. For many years, increasing diabetes mellitus incidence has been mirrored by rising preventable morbidity and mortality due to complications, yet innovation in service delivery has been slow. While the current focus is on limiting the terrible harm caused by the pandemic, it is possible that a positive lasting legacy of COVID-19 might include accelerated innovation in chronic disease management.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/terapia , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/terapia , Pneumonia Viral/epidemiologia , Pneumonia Viral/terapia , Terapias em Estudo/tendências , Infecções por Coronavirus/diagnóstico , Diabetes Mellitus/diagnóstico , Endocrinologia/métodos , Endocrinologia/tendências , Humanos , Pandemias , Pneumonia Viral/diagnóstico , Telemedicina/métodos , Telemedicina/tendências , Terapias em Estudo/métodos , Reino Unido/epidemiologia
16.
Best Pract Res Clin Endocrinol Metab ; 34(3): 101427, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32448594

RESUMO

The European society of endocrinology, in association with the European network for the study of adrenal tumors, published recommendations for the diagnosis and treatment of adrenal incidentalomas in 2016. A thorough and critical analysis of the literature was performed to establish evidence-based recommendations and expert suggestions with the aim of avoiding 'over-diagnosis' and 'over-treatment' and to reduce unnecessary investigations, surgery and follow-up. The purpose of this review is to reconsider several recommendations that are open to debate, such as imaging of adrenal incidentalomas, diagnosis of pheochromocytoma, diagnosis and treatment of autonomous cortisol-secreting tumors, investigations of bilateral AI and follow-up of non-operated AIs, based on studies published after the release of the recommendations.


Assuntos
Neoplasias das Glândulas Suprarrenais/terapia , Endocrinologia/métodos , Endocrinologia/tendências , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/patologia , Diagnóstico por Imagem , Técnicas de Diagnóstico Endócrino , Humanos , Hidrocortisona/análise , Hidrocortisona/sangue , Achados Incidentais , Incerteza
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