Microbial dysbiosis has been linked to cystic fibrosis (CF); however, the composition of gut microbiota in adult CF patients in relation to severity of CF transmembrane conductance regulator (CFTR) gene mutation and nutritional status have not yet been explored. Study aimed to assess the gut microbiota composition in adults with CF, and its relationship with the severity of CFTR mutations, and BMI. Gut microbiota of 41 adults with CF, and 26 non-CF controls were compared using whole 16S rRNA gene sequencing. Differences in the microbial community between groups of patients classified according to the severity of CFTR mutations, and BMI were assessed. The alpha diversity, beta diversity, and taxa abundance were identified to reflect gut microbiota composition. Results showed a significant decrease in alpha diversity of bacterial communities in CF compared to non-CF group, but no significant difference between the CF groups distinguished by the severity of CFTR mutations. However, more severe mutations were associated with the higher relative abundance of Bacteroides and Streptococcus and the lower relative abundance of Faecalibacterium and Blautia. Undernourished CF patients showed significantly lower alpha diversity compared to non-CF group and CF patients with BMI within the norm. Significant differences in the structure of the gut microbiota between CF and non-CF groups, as well as between BMI groups were also found. Our research indicates that CF is associated with alterations in gut microbiota in adults. Additionally, in adult CF patients, the composition of the gut microbiota is also related to BMI.

The aim of this review was to describe the uterine microbiome composition that has been analyzed so far and describe potential pathways in the carcinogenesis of the endometrium. The microbiome in the uterine environment is involved in apoptosis and proliferation during the menstruation cycle, pregnancy maintenance, and immune system support. However, bacteria in the uterus could stimulate inflammation, which when chronic results in malignancy. An altered gut microbiota initiates an inflammatory response through microorganism-associated molecular patterns, which leads to intensified steroidogenesis in the ovaries and cancers. Moreover, intestinal bacteria secreting the enzyme β-glucuronidase may increase the level of circulating estrogen and, as a result, be influential in gynecological cancers. Both the uterine and the gut microbiota play a pivotal role in immune modulation, which is why there is a demand for further investigation from both the diagnostic and the therapeutic perspectives.

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness. It causes movement issues and severe physical disability. SMA is classified into four types based on the level of function achieved, age of onset, and maximum function achieved. The deletion or point mutation in the Survival of Motor Neuron 1 ( SMN1 ) gene causes SMA. As a result, no full-length protein is produced. A nearly identical paralog, SMN2, provides enough stable protein to prevent death but not enough to compensate for SMN1's loss. The difference between SMN1 and SMN2 is due to different exon 7 alternative splicing patterns. SMA molecular therapies currently focus on restoring functional SMN protein by splicing modification of SMN2 exon 7 or elevated SMN protein levels. Nusinersen, an antisense oligonucleotide targeting the ISS-N1 sequence in SMN2 intron 7, was the first drug approved by the Food and Drug Administration. Risdiplam, a novel therapeutic that acts as an SMN2 exon 7 splicing modifier, was recently approved. All of these drugs result in the inclusion of SMN2 exon 7, and thus the production of functional SMN protein. Onasemnogene abeparvovec is a gene therapy that uses a recombinant adeno-associated virus that encodes the SMN protein. There are also experimental therapies available, such as reldesemtiv and apitegromab (SRK-015), which focus on improving muscle function or increasing muscle tissue growth, respectively. Although approved therapies have been shown to be effective, not all SMA patients can benefit from them due to age or weight, but primarily due to their high cost. This demonstrates the significance of continuous treatment improvement in today's medical challenges.

There is no consensus on the composition of the uterine microbiome in healthy women. Bacteria in the uterine cavity engage in reciprocal interactions with endometrial cells and the immune system, thereby maintaining a microecological balance. Given the continuity of the genital tract, the vagina may serve as a potential source of uterine microbiota, which should be included in the investigation. This study aimed to examine the uterine microbiome of healthy women and to provide a reference for further studies. Additionaly, we collected vaginal samples from the same women to compare both niches and investigate the vagina as a potential bacterial source for the uterus. The study cohort consisted of 34 healthy women. We investigated microbiome presence in the uterus by 16S rRNA gene sequence detection. We obtained positive results in all samples analyzed, supporting the hypothesis that the uterus is not a sterile niche. To check bacterial composition, we proceeded with full-length 16S rRNA gene nanopore sequencing. Analysis revealed in the uterus a heterogeneous spectrum of microbial communities, clustering into three distinct community types alongside a single-subject outlier. Among these, Lactobacillus crispatus and Faecalibacterium prausnitzii emerged as the most prevalent taxa. Notably, uterine microbiomes demonstrated greater diversity than corresponding vaginal microbiomes, with overlapping bacterial taxa across both anatomical sites in most individuals, particularly in women with microbial profiles dominated by Lactobacillus species. The uterine microbiome in healthy women is heterogeneous, reflecting considerable inter-individual variability. The presence of shared bacterial taxa between the uterus and vagina within the same individual indicates a connected genital tract microbiome, suggesting potential microbial exchange. These findings highlight the importance of adopting a systemic perspective when investigating the etiology of gynecological pathologies. Future longitudinal studies are necessary to elucidate the selective pressures and dynamics shaping these microbial communities over time.