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1.
Pol Merkur Lekarski ; 50(300): 356-359, 2022 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-36645680

RESUMO

Suicidal behaviour is a major public health problem in Poland. There is compelling evidence that genetic factors contribute to the risk for suicidal behavior. Studies suggest a link between single nucleotide polymorphism (SNP) rs1049353 (1359 G/A; Thr453Thr) of cannabinoid receptor 1 gene (CNR1) and mental disorders, including suicide behaviour. AIM: The purpose of the study was to determine whether 1359 G/ A polymorphism of CNR1 is more frequent in people attempting suicide than in the general population. MATERIALS AND METHODS: A sample of 76 genetically unrelated participants were enrolled into the study: 48 patients after a suicide attempt and the control group - 28 individuals without a history of suicide attempts. The genotyping of 1359 G/A polymorphism of CNR1 gene was performed with the application of Restriction Fragment Length Polymorphism (RFLP) analysis. RESULTS: None of the 1359 G/A polymorphisms of CNR1 gene seem to occur more frequently among individuals who attempted suicide. CONCLUSIONS: Further research with larger samples with different racial and geographic origins are needed in the future.


Assuntos
Polimorfismo de Nucleotídeo Único , Tentativa de Suicídio , Humanos , Polônia , Receptor CB1 de Canabinoide/genética , Genótipo
2.
J Clin Med ; 12(2)2023 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-36675589

RESUMO

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. CAH, depending on its clinical form, is usually diagnosed in the neonatal period, later in childhood, in adolescence, or in young adults. Herein, we report a case series of eight individuals in whom CAH was diagnosed between the ages of 18 and 81 years. METHODS: We report on clinical presentations, hormonal tests, adrenal/gonadal imaging, and genetic findings. The clinical data of eight people with CAH, including four women (46, XX) and four men (46, XY), were reviewed. A genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene was performed in six patients. A comprehensive literature review was also conducted. CASE SERIES: Partial cortisol deficiency was found in all patients. The most frequent genotype was the homozygotic I173N mutation in CYP21A2. Adrenal masses were detected in seven patients, except for the youngest. Most of the patients were of short stature. Hypogonadotropic hypogonadism was detected in two males, and three females presented with primary amenorrhea. Hirsutism was noticeable in three females. All of the patients developed insulin resistance, and half of them were obese. CONCLUSIONS: The clinical presentations of different forms of CAH overlapped. Genotype-phenotype correlations were strong but not absolute. The management of CAH should be individualized and based on clinical and laboratory findings. Furthermore, the assessment of the cortisol response to adrenocorticotrophic hormone stimulation should be mandatory in all adults with CAH. Additionally, the regular long-term screening of cardiometabolic status is required in the CAH population.

3.
Pharmaceuticals (Basel) ; 16(8)2023 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-37631020

RESUMO

Fluoroquinolones (FQs) are widely used drugs around the world. This is a result of their broad spectrum of antibacterial activity, high bioavailability, and known efficacy. Since they appeared on the market, their prescribing frequency has gradually increased. In 2011, FQs became the third most prescribed class of antibiotics in the US. Widespread use of these drugs resulted in an increasing number of reported side effects. In 2016, the FDA warned about significant side effects, including mental disorders in the form of anxiety, psychotic symptoms, insomnia, and depression. Psychiatric adverse reactions to FQs occur with a frequency of 1 to 4.4% and the mechanism of their formation is not entirely clear. It is believed that the antagonistic effect of FQs on the GABA receptor or interaction with the main receptor for the glutamatergic system-NMDA-is responsible for this. The paper is a structured review of 68 selected publications and the latest summary of CNS adverse effects that occur during FQ use. Prescribers should be aware of the risk factors for FQ toxicity, including elderly patients with underlying medical conditions or receiving concomitant medication; however, these adverse events may also occur in other groups of patients.

4.
Artigo em Inglês | MEDLINE | ID: mdl-36232221

RESUMO

A 44-year-old woman was admitted to hospital with end-stage renal failure, productive cough, and decreased exercise tolerance. She had owned nine cats, which resulted in long-term exposure (18 years) to silica-containing bentonite cat litter. High-resolution computed tomography of the chest showed micronodular lesions in the lungs, and mild mediastinal lymphadenopathy. A lung biopsy revealed multinucleated giant cells, some of which had birefringent material and Schaumann bodies. X-ray photoelectron spectroscopy revealed the presence of silicon in the lung biopsy specimen, as well as in the patient's cat litter. The pulmonary condition was suggestive of sarcoid-like lung disease, rather than silicosis, sarcoidosis, or hypersensitivity pneumonitis, according to the clinicopathological findings. Renal failure appeared to be a result of chronic hypercalcemia due to extrarenal calcitriol overproduction in activated alveolar macrophages. Ultimately, the patient was diagnosed with sarcoid-like lung disease complicated by end-stage renal failure from exposure to bentonite cat litter. Therapy with steroids, in addition to elimination of the bentonite cat litter exposure, resulted in a significant improvement in the health condition. At a follow-up visit after 4 months, an almost complete resolution of the lung lesions and a significant improvement in renal function were observed.


Assuntos
Falência Renal Crônica , Pneumopatias , Sarcoidose , Dermatopatias , Bentonita , Calcitriol , Feminino , Humanos , Sarcoidose/diagnóstico , Silício , Dióxido de Silício/toxicidade
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