Community-acquired pneumonia complications in a patient with hereditary glucose-6-phosphate dehydrogenase deficiency

Wrodzony niedobór dehydrogenazy glukozo-6-fosforanowej (G6PD) może prowadzić do ciężkich powikłań w przypadku zakażenia dolnych dróg oddechowych. Przedstawiamy przypadek 68-letniego mężczyzny z wrodzonym niedoborem G6PD, u którego obserwowano ciężkie powikłania pozaszpitalnego zapalenia płuc. Niedobór G6PD u chorego rozpoznano w dzieciństwie, od wielu lat chory pozostawał bez objawów choroby. W opisywanym okresie w przebiegu zapalenia płuc obserwowano ropniaka opłucnej, przełom hemolityczny, ciężką niedokrwistość i niewydolność nerek wymagającą leczenia hemodializami. W celu wyleczenia ropnych powikłań wykonano u chorego wideopleuroskopię i drenaż opłucnej. Pozaszpitalne zapalenie płuc może prowadzić do powikłań hemolitycznych u chorych z niedoborem G6PD. Ciężkie ropne powikłania zapalenia płuc u tych chorych mogą być związane z upośledzeniem funkcji granulocytów.Severe complications of lower respiratory tract infection in a patient with hereditary glucose-6-phosphate dehydrogenase (G-6-PD) deficiency may occur. The case of a 68-year-old man with hereditary glucose-6-phosphate dehydrogenase (G6PD) deficiency who developed severe haemolysis after community-acquired pneumonia is presented. G6PD deficiency in our patient was diagnosed during childhood. We observed complications of community-acquired pneumonia: empyema, haemolytic crisis and renal failure. Videopleuroscopy and pleural drainage were successfully performed. Community-acquired streptococcal pneumonia may also lead to haemolysis in G6PD deficient patients. Acute haemolysis, severe anaemia and renal insufficiency secondary to haemoglobinuria can be observed. Severe purulent complications of pneumonia in G6PD deficient patients may suggest granulocyte function impairment

Vitamin D Status during Pregnancy versus the Anthropometric Parameters of Two- and Four-Year-Olds: A Pilot Study

Apart from being associated with a well-documented risk for adverse pregnancy outcomes, maternal deficiency of vitamin D may also negatively affect the physical development of their children. The aim of the study was to evaluate the relationship between maternal as well as umbilical cord blood levels of vitamin D and the weight and height values of two- and four-year-olds. The study was conducted in a group of 52 ‘mother–child’ pairs. On the day of the delivery, total 25(OH)D concentration in blood was measured using immunological tests (LIAISON). Weight and height values were obtained from the database of routine health checks for children aged two and four, which are obligatory in Poland. Multiple regression analysis was used for statistical analysis. No association was detected between maternal-neonatal concentrations of vitamin D and weight and height values of the investigated two- and four-year-olds despite extreme differences in maternal (4.0–37.7 ng/mL) and neonatal (5.9–46.6 ng/mL) concentrations and the fact that vitamin D deficiency was detected in almost 54% of the mothers and 37% of the newborns. Therefore, no relationship between maternal-fetal vitamin D concentrations and the anthropometric parameters of the investigated children up to the age of four was found

Health-Related Content of TV and Radio Advertising of Dietary Supplements—Analysis of Legal Aspects after Introduction of Self-Regulation for Advertising of These Products in Poland

Dietary supplements may have beneficial value but, by definition, they have no therapeutic effect. However, their labeling and especially the advertisements in the media, often make ungrounded health claims. The aim of the study was to analyze the content of audio–visual advertisements of dietary supplements for health and legal aspects in the context of the European Law and the 1 January 2020 Polish self-regulation between TV broadcasting companies and supplement manufacturers. Supplement advertisements broadcast across six TV and radio stations from 9–15 March 2020 were analyzed. Most of the analyzed advertisements complied with the legal requirements and included terms such as ‘supports’ or ‘facilitates’ body function, which are less definite in nature. Almost 30% of the advertised supplements made unproven claims on their effectiveness in various health situations, e.g., effective weight loss, thus assuring the addressee about the beneficial effect of dietary supplements in a given health context. Agreement on the rules and regulations governing supplement advertising resulted in a noticeable improvement in advertisement content, which will hopefully raise consumer awareness about the absence of therapeutic properties of dietary supplements

ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: genotyping the already known PCD-related genes explains the genetic basis in 60-65% of the cases, depending on the population. While identification of new genes involved in PCD pathogenesis remains crucial, the search for new, population-specific mutations causative for PCD is equally important. The Slavs remain far less characterized in this respect compared to West European populations, which significantly limits diagnostic capability. The main goal of this study was to characterize the profile of causative genetic defects in one of the PCD-causing genes, ZMYND10, in the cohort of PCD patients of Slavic origin. The study was carried out using biological material from 172 unrelated PCD individuals of Polish origin, with no causative mutation found in nine major PCD genes. While none of the previously described mutations was found using the HRM-based screening, a novel frameshift mutation (c.367delC) in ZMYND10, unique for Slavic PCD population, was found in homozygous state in two unrelated PCD patients. Immunofluorescence analysis confirmed the absence of outer and inner dynein arms from the ciliary axoneme, consistent with the already published ZMYND10-mutated phenotype; cDNA analysis revealed the lack of ZMYND10 mRNA, indicating nonsense-mediated decay of the truncated transcript

<i>ZMYND10</i> mutations identified in different studies.

<p><i>ZMYND10</i> mutations identified in different studies.</p

Transmission electron microscope analysis.

<p>Right panel, outer and inner dynein arms (ODA and IDA, black arrows) in the cross-section of cilia from the respiratory epithelium of a healthy individual. Left panel, lack of ODA and IDA (white arrows) in patient #683. Magnification 30,000; lower panel—enlarged view of a single cilium. Black scale bars represent 0,1 μm.</p

Potential miRNA target sites in <i>ZMYND10</i> mRNA.

<p>Potential miRNA target sites predicted using miRDB (database tab: ‘<i>Custom Prediction; Search for unconventional target sites in the coding region or 5'-UTR</i>’) are shown in the mRNA sequence downstream from the c.367delC mutation (spliced exons 4–12 in transcript 001 are shown in alternating blue and black colors; the site of the mutation is double underlined; position of the STOP codons—normal and premature—are underlined in bold). Seed sequences complementary to the highest scoring miRNAs (sequences shown below) are highlighted.</p