Medicine
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Case Reports
Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
Genetic factors contribute to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Advances in genetic testing have enabled the identification of hereditary kidney diseases, including those caused by LMX1B mutations. LMX1B mutations can lead to nail-patella syndrome (NPS) or nail-patella-like renal disease (NPLRD) with only renal manifestations. ⋯ This study has successfully identified missense mutation, c.737G > T (p.Arg246Leu) in the homeodomain, which appears to be responsible for isolated nephropathy in the studied family. The arginine to leucine change at codon 246 likely disrupts the DNA-binding homeodomain of LMX1B. Previous research has documented 2 types of mutations at codon R246, namely R246Q and R246P, which are known to cause NPLRD. The newly discovered mutation, R246L, is likely to be another novel mutation associated with NPLRD, thus expanding the range of mutations at the crucial renal-critical codon 246 that contribute to the development of NPLRD. Furthermore, our findings suggest that any missense mutation occurring at the 246th amino acid position within the homeodomain of the LMX1B gene has the potential to lead to NPLRD.
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To explore the effect of probiotics combined with budesonide and ipratropium bromide in the treatment of chronic obstructive pulmonary disease (COPD) on lung function and gut microbiota. This was a retrospective study of prospectively collected clinical data of 118 patients with COPD admitted to our hospital between January 2020 and December 2022. According to the treatment records, 59 patients received budesonide and irpratropium bromide (control group), and 59 patients received probiotics combined with budesonide and irpratropium bromide (observation group). ⋯ After treatment, the levels of serum MMP-9, VEGF, basic fibroblast growth factor, and NGF in the 2 groups were lower than before treatment, and the levels in the observation group were lower than those in the control group (P < .05). After treatment, the levels of lactobacilli and bifidobacteria in the 2 groups increased compared to those before treatment, and the observation group had a higher level, while the levels of Enterobacteriaceae and Enterococcus were lower in the observation group than those before treatment (P < .05). Based on budesonide and irpratropium bromide, probiotic treatment of COPD is more conducive to reducing the degree of inflammatory reactions, inhibiting airway remodeling, regulating the level of gut microbiota, and promoting the recovery of lung function.
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Uterine rupture is extremely hazardous to both mothers and infants. Diagnosing silent uterine rupture in pregnant women without uterine contractions is challenging due to the presence of nonspecific symptoms, signs, and laboratory indicators. Therefore, it is crucial to identify the elevated risks associated with silent uterine rupture. ⋯ Obstetricians should give particular consideration to the risk factors for silent uterine rupture, including a history of uterine surgery, such as laparoscopic transabdominal cerclage, laparoscopic myomectomy, and induced abortion.
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Immune checkpoint inhibitors have shown high efficacies as the first-line treatment of various advanced malignancies. Yet, the effect and practice patterns of immune checkpoint inhibitors on the second primary tumors are still unclear. Second primary malignancy post immunotherapy, there is paucity in such cases being reported. ⋯ It is necessary to recognize that the second primary malignancy may occur during the immunotherapy, and more clinical studies and practices are still needed for the adjustment of the regimens of immunotherapy. Full diagnosis, timely treatment, and long-term regular follow-up have important significance for patients with malignancies.
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Case Reports
Chromosome balanced translocation in newborn fetus founded during prenatal diagnosis: Three cases reports.
Because of the normal phenotype, carriers of specific chromosomal translocations are often diagnosed only after their development of associated malignancies, recurrent miscarriages, and reproductive difficulties. In this paper, we report primary balanced fetal chromosomal translocations by performing the necessary invasive prenatal diagnosis in couples with previous malformations coupled with prenatal testing suggesting a high risk for trisomy 21. ⋯ This case report reports healthy chromosomal balanced translocation newborns born to couples with poor maternal history and couples with abnormalities suggested by preconception testing, and followed up with the newborns to provide some experience in prenatal diagnosis and genetic counseling for chromosomal balanced translocations.