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Introduction and Objective. The significance of MTHFR gene polymorphisms in the course of pregnancy has not been definitively resolved. Variants c.665C>T and c.1286A>C in the MTHFR gene leads to increased concentration of homocysteine. The aim of the study was to evaluate homocysteine serum concentrations in Polish women with recurrent pregnancy loss, depending on the presence of the MTHFR gene variants c.665C>T and c.1286A>C in the MTHFR gene. Materials and Method. 137 women with recurrent miscarriages, normal karyotype and normal molecular tests results for the variants c.1691G>A of F5 gene and c.97*G>A of F2 gene were qualified for the study. The relationship between the presence of the MTHFR gene polymorphisms c.665C>T and c.1286A>C in gene MTHFR and homocysteine serum concentration was stadied. Results. There were no significant differences found in homocysteine levels in the study group of women with recurrent miscarriages. There were no differences in homocysteine concentration in patients with MTHFR gene c.655C>T polymorphism (heterozygous nor homozygous), compared to patients without the MTHFR gene polymorphism (CC wild type). Similarly, no differences were noted between patients with AA-wild type and patients with the MTHFR variant c.1286A>C (heterozygous nor homozygous). There was no also correlation between homocysteine concentration and women's age, regardless of the patients' group (control vs. study groups). Conclusions. The c.655C>T and c.1286A>C variants of the MTHFR remain without significant impact on homocysteine concentration in Polish women with recurrent pregnancy loss. [ABSTRACT FROM AUTHOR]

Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood‐onset chronic diarrhea and the classic triad of juvenile‐onset cataracts, Achilles tendons xanthomas, and progressive ataxia. It is currently one of the few inherited neurometabolic disorders amenable to a specific treatment. The diagnosis may be significantly delayed resulting in permanent neurological impairment. A retrospective review of the clinical characteristics and diagnostic findings in case series of six Polish patients with CTX. Additional retrospective review of symptoms and pathogenic variants of 568 CTX available cases and case series from the past 20 years. To the best of our knowledge, this is the widest review of CTX cases reported in years 2000–2021. We report the largest cohort of Polish patients ever published, with the identification of two hot‐spot mutations. During the review of available 568 cases, we found significant differences in the clinical phenotypes and the localization of variants within the gene between Asian and non‐Asian populations. These findings may facilitate molecular testing in the Polish and Asian populations. Invariably better screening for CTX and wider awareness is needed. [ABSTRACT FROM AUTHOR]

Chromatography connected with ion mobility spectrometry (IMS) is not commonly used, but is being investigated more. IMS is an independent analytical technique with very good detectability and a rather small separation ability. One favorable property of IMS is that it can work with ambient pressure and can be easily connected to a gas chromatograph. Analytical applications of gas chromatography coupled to ion mobility spectrometry (GC-IMS) are very different and encompass investigations into food, medical science, environment, drugs of abuse, chemical warfare agents, and explosives. [ABSTRACT FROM AUTHOR]