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1.
Adv Clin Exp Med ; 32(9): 977-986, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36881366

RESUMO

BACKGROUND: Doctors have higher rates of mental illness and suicide than the general population worldwide. Suicides of doctors are known to be underreported in developing countries. To the best of our knowledge, there are no studies investigating suicides among medical students and doctors in Turkey. OBJECTIVES: To investigate the characteristics of suicides in medical school students and doctors in Turkey. MATERIAL AND METHODS: In this retrospective study, newspaper websites and Google search engine were searched for information on medical school student and doctor suicides in Turkey between 2011 and 2021. Cases of suicide attempt, parasuicide or deliberate self-harm were not included in the study. RESULTS: Sixty-one suicides were reported between 2011-2021. There was a male predominance (45 (73.8%)), and more than half of the suicides (32 (52.5%)) occurred among specialist doctors. Self-poisoning, jumping from heights and firearms were the most common methods of suicide (18 (29.5%), 17 (27.9%) and 15 (24.6%), respectively). Cardiovascular surgery, family medicine, gynecology, and obstetrics specialties had the highest numbers of suicide deaths. Depression/mental illness was the most common speculated etiology. These results show that suicides among medical students and doctors in Turkey have characteristics that differ from both suicided among the general population in Turkey and doctor suicides in other countries. CONCLUSIONS: In this study, we identified the suicidal characteristics of medical students and doctors in Turkey for the first time. The results help us to better understand this understudied topic and provide an avenue for future studies. The data also indicate that it is important to monitor the individual and systemic difficulties experienced by doctors, starting from the medical education stage, and to provide individual and environmental support to help decrease the risk of suicide.


Assuntos
Medicina , Tentativa de Suicídio , Humanos , Masculino , Feminino , Turquia/epidemiologia , Estudos Retrospectivos , Ideação Suicida
2.
Arch Endocrinol Metab ; 61(6): 633-636, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29412390

RESUMO

Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS -3.7) and bone age of 6 years. Clonidine and combined pituitary stimulation tests revealed GH deficiency. Pituitary MRI was normal. The patient was successfully treated with rGH. Surprisingly, at 10.8 years, his bone age had advanced to 13 years, but physical exam, LH and testosterone levels remained prepubertal. An ACTH stimulation test disclosed a non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency explaining the bone age advancement and, therefore, treatment with cortisone acetate was added. The genetic diagnosis of a homozygous mutation in GHRHR (p.Leu144His), a homozygous CYP21A2 mutation (p.Val282Leu) and CYP21A1P pseudogene duplication was established by Sanger sequencing, MLPA and whole-exome sequencing. We report the unusual clinical presentation of a patient born to consanguineous parents with two recessive endocrine diseases: non-classic congenital adrenal hyperplasia modifying the classical GH deficiency phenotype. We used a method of paired read mapping aided by neighbouring mis-matches to overcome the challenges of exome-sequencing in the presence of a pseudogene.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Doenças do Desenvolvimento Ósseo/genética , Nanismo Hipofisário/genética , Receptores de Neuropeptídeos/genética , Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética , Esteroide 21-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/complicações , Doenças do Desenvolvimento Ósseo/etiologia , Criança , Consanguinidade , Nanismo Hipofisário/complicações , Humanos , Recém-Nascido , Masculino , Mutação , Linhagem , Fenótipo
3.
Arch. endocrinol. metab. (Online) ; 61(6): 633-636, Dec. 2017. graf
Artigo em Inglês | LILACS | ID: biblio-887602

RESUMO

SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS −3.7) and bone age of 6 years. Clonidine and combined pituitary stimulation tests revealed GH deficiency. Pituitary MRI was normal. The patient was successfully treated with rGH. Surprisingly, at 10.8 years, his bone age had advanced to 13 years, but physical exam, LH and testosterone levels remained prepubertal. An ACTH stimulation test disclosed a non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency explaining the bone age advancement and, therefore, treatment with cortisone acetate was added. The genetic diagnosis of a homozygous mutation in GHRHR (p.Leu144His), a homozygous CYP21A2 mutation (p.Val282Leu) and CYP21A1P pseudogene duplication was established by Sanger sequencing, MLPA and whole-exome sequencing. We report the unusual clinical presentation of a patient born to consanguineous parents with two recessive endocrine diseases: non-classic congenital adrenal hyperplasia modifying the classical GH deficiency phenotype. We used a method of paired read mapping aided by neighbouring mis-matches to overcome the challenges of exome-sequencing in the presence of a pseudogene.


Assuntos
Humanos , Masculino , Lactente , Criança , Doenças do Desenvolvimento Ósseo/genética , Esteroide 21-Hidroxilase/genética , Receptores de Neuropeptídeos/genética , Hiperplasia Suprarrenal Congênita/genética , Nanismo Hipofisário/genética , Linhagem , Fenótipo , Doenças do Desenvolvimento Ósseo/etiologia , Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética , Hiperplasia Suprarrenal Congênita/complicações , Consanguinidade , Nanismo Hipofisário/complicações , Mutação
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