Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A).

BACKGROUND: In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis of a single hereditary syndrome is not uncommon, the coexistence of two genetic diseases, even with partially common symptoms, remains unusual. Therefore, targeted next-generation sequencing (NGS), along with genetic consultation and imaging studies, is essential for every patient with confirmed paraganglioma. In this report, we present two sisters diagnosed with multiple endocrine neoplasia type 2 (MEN2A) and familial paraganglioma syndrome type 1 (FPGL1). CASE PRESENTATION: After presenting to the clinic with neck tumors persisting for several months, both patients underwent tumor removal procedures following imaging and laboratory studies. Pathological reports confirmed the diagnosis of paragangliomas. Subsequently, genetic testing, including NGS, revealed a mutation in the rearranged during transfection (RET) gene: the heterozygous change (c.2410G > A), (p.Val804Met), and a variant of the succinate dehydrogenase complex subunit D (SDHD) gene: (c.64 C > T), (p.Arg22Ter). Subsequently, thyroidectomy procedures were scheduled in both cases. CONCLUSION: To the best of our knowledge, this is the first report presenting these two mutations in two related patients, resulting in distinctive genetic syndromes with similar manifestations. This underscores that although infrequent, multiple hereditary disorders may co-occur in the same individual.

Selected non-somatic risk factors for pregnancy loss in patients with abnormal early pregnancy.

INTRODUCTION AND OBJECTIVE: Spontaneous abortion constitutes one of the most frequent complication of human pregnancy. Despite intensive research efforts undertaken to date, the etiopathogenesis of early pregnancy loss has not been fully elucidated. The objective of this study was to analyze the role of selected non-somatic risk factors for early pregnancy loss in patients with various clinical manifestations of spontaneous abortion. MATERIALS AND METHODS: The study included 242 women hospitalized between 2001 and 2004 in the 3rd Chair and Department of Gynecology, Medical University of Lublin, Poland (Teaching Hospital No.4) with various clinical categories of spontaneous abortion. Each patient completed a questionnaire assessing her exposure to the examined factors. In patients with threatened abortion dismissed from the hospital with viable gestation, the course of pregnancy was followed-up using questionnaire data and medical records. RESULTS: In the studied population of women with abnormal early pregnancy course, a significant impact on the risk of miscarriage was observed in case of such factors as: exposure to stress at home and limited number of hours of nightly sleep. Factors such as occupational hazards, diet, stress, heavy housework and use of cigarettes or alcohol did not exert a significant effect on the risk of miscarriage in the studied population. CONCLUSIONS: The results of this study confirm the complexity of the early pregnancy loss etiopatogenesis. Further research need to be conducted in order to identify the non-somatic causative agents of various clinical forms of miscarriage. It may help do select women in reproductive age at high risk of early pregnancy loss and show the ways in which effective preventive measures can be introduced in such population.

[Ciprofloxacin-induced acute non-oliguric renal failure in patient with chronic glomerulonephritis]. / Indukowana cyprofloksacyna ostra niewydolnosc nerek przebiegajaca bez skapomoczu u chorej na przewlekle klebuszkowe zapalenie nerek.

We report a case of ciprofloxacin-induced acute non-oliguric renal failure that developed in a patient with chronic glomerulonephritis. Withdrawal of the drug led to normalization of renal function within 31 days without further specific therapy. Thus, clinicians should be aware of this rare but severe entity.

[Hypercalciuria with severe hypocalcaemia in association with distal renal tubular acidosis--case report and differential diagnostics]. / Hiperkalcjuria z ciezka hipokalcemia w przebiegu kwasicy cewkowej dystalnej--opis przypadku i diagnostyka róznicowa.

Neither severe distal renal tubular acidosis nor hypercalciuria have been recognized to cause severe hypocalcaemia. We describe a 53 years old woman with distal renal tubular acidosis and hypercalciuria who demonstrated severe hypocalcemia, normalized after calcium and vitamin D supplementation and treatment with thiazide.