Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes.

AIM: Monogenic diabetes (MD) represents 5-7% of antibody-negative diabetes cases and is a heterogeneous group of disorders. METHODS: We used targeted next-generation sequencing (NGS) on Illumina NextSeq 550 platform involving the SureSelect assay to perform genetic and clinical characteristics of a study group of 684 individuals, including 542 patients referred from 12 Polish Diabetes Centers with suspected MD diagnosed between December 2016 and December 2019 and their 142 family members (FM). RESULTS: In 198 probands (36.5%) and 66 FM (46.5%) heterozygous causative variants were confirmed in 11 different MD-related genes, including 31 novel mutations, with the highest number in the GCK gene (206/264), 22/264 in the HNF1A gene and 8/264 in the KCNJ11 gene. Of the 183 probands with MODY1-5 diabetes, 48.6% of them were diagnosed at the pre-diabetes stage and most of them (68.7%) were on diet only at the time of genetic diagnosis, while 31.3% were additionally treated with oral hypoglycaemic drugs and/or insulin. CONCLUSIONS: In summary, the results obtained confirm the efficacy of targeted NGS method in the molecular diagnosis of patients with suspected MD and broaden the spectrum of new causal variants, while updating our knowledge of the clinical features of patients defined as having MD.

[Prolactinoma as a cause of primary amenorrhea in a 16-year-old girl]. / Prolactinoma jako przyczyna pierwotnego braku miesiaczki u 16-letniej dziewczynki.

16 years old girl with prolactinoma and amenorrhoea primaria was treated with Bromocorn. The symptoms of hyperprolactinemia regressed gradually--Graaf follicules started to mature in ovaries, the menstruation bleeding appeared after 12 months. The reduction of tumor mass has been obtained during this time.

Studies on goiter occurrence and iodine deficiency in Lublin Upland (Lublin coordinating center).

Questionnaire, clinical, ultrasonographic and biochemical studies (determination of urinary iodine concentration) have been carried out in 1686 children of age between 7 and 13 years living in the Lublin Upland region. The presence of goiter was found in 368 children (21.8%). A gradual increase in the incidence of goiter with age of children was observed. Ultrasonographic examinations carried out in children with goiter and in those without goiter detectable by physical examination revealed considerable variation in the volume of the thyroid there was an increase in the thyroid volume with age both in rural and urban children. The values of urinary iodine concentration were lowered; mean value in children without goiter was 56.8 micrograms/l, and in children with goiter 52.6 micrograms/l. The query concerning the consumption of iodized salt revealed that only 22.6% of the families studied use iodized salt.

[The influence of vibramycin on the small intestine of the rat]. / Wplyw wibramycyny na jelito cienkie szczura.

The experiments were carried out on the rats of Wistar race. One group administered vibramycin before expiration date for 10 days. Another group was given outdated vibramycin for the same period of time. The small intestine was examined histologically (hematoxylin and eosin) and histochemically (acid phosphatase, alkaline phosphatase, mucopolysaccharides, RNA). Division figures in small intestine epithelium were also counted. It was found out that the activity of acid phosphatase and RNA was increasing in animals obtaining vibramycin before expiration date. Mucopolysaccharides and alkaline phosphatase reacted weaker than in the control intestine. The intestinal mucosa showed considerable destruction. In both cases the number of division figures in the cells of small intestine epithelium decreased, particularly after administration of expired vibramycin.