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Objective: To compare and analyze the clinical effects of microscopic surgery and conventional surgery in children with penile hypospadias and the differences in postoperative urodynamic indexes., Methods: It was a clinical comparative study. A total of 80 children with penile hypospadias admitted to Beijing Children's Hospital Affiliated to Capital Medical University Baoding Hospital from July 2018 to September 2022 were selected and randomly divided into two group. The experimental group were treated with microscopic urethroplasty, while the control group were treated with traditional urethroplasty. The operative effect, operation time, total intraoperative blood loss, postoperative hospital stay and incidence of surgical complications were compared and analyzed between the two groups. All the children were followed up for two years, and the changes in urodynamic parameters including maximum urine flow rate (Qmax), average urine flow rate (Qavc), urine flow time (FT), peak time (TQmax) and residual urine (PVR) were compared before, two weeks after, six months after and two years after surgery., Results: The efficacy of the experimental group was significantly higher than that of the control group (p=0.013). The intraoperative blood loss and postoperative hospital stay in the experimental group were significantly better than those in the control group (p=0.000). The incidences of urinary leakage and urethral stricture in the experimental group were lower than those in the control group (p<0.05). The Qmax level in the experimental group was higher than that in the control group at six months and two years after surgery, while the FT level was lower than that of the control group (p<0.05)., Conclusion: Microscopic surgery is a method with significant clinical value in the treatment of penile hypospadias., Competing Interests: Conflicts of interest: None., (Copyright: © Pakistan Journal of Medical Sciences.)

Two siblings, one male and one female, ages 6 and 13 yr old, have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole-genome sequencing revealed a homozygous splice variant (NM&#95;014462.3:c.231+4A>C) in LSM1 that segregated with the phenotype in the family. LSM1 has a role in pre-mRNA splicing and degradation. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye. To our knowledge, LSM1 has not been associated with any human disorder; however, the tissue expression pattern, gene constraint, and the similarity of the phenotype in our patients and the knockout mice models suggest it has a role in the development of multiple organ systems in humans., (© 2019 Okur et al.; Published by Cold Spring Harbor Laboratory Press.)

Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13.5-Mb duplication on Chromosome 16 (16q23.1 → 16qter) and a 7.7-Mb deletion on Chromosome 5 (5p15.31 → 5pter), as well as a hemizygous missense variant in CXorf36 (also known as DIA1R). The 5p terminal deletion has been associated previously with speech delay, whereas craniofacial dysmorphia and genital/urinary anomalies have been reported in patients with a terminal duplication of 16q. However, dosage changes in either genomic region alone could not account for the overall clinical presentation in our family; functional testing of CXorf36 in zebrafish did not induce defects in neurogenesis or the craniofacial skeleton. Notably, literature and database analysis revealed a similar dosage disruption in two siblings with extensive phenotypic overlap with our patients. Taken together, our data suggest that dosage perturbation of genes within the two chromosomal regions likely drives the syndromic manifestations of our patients and highlight how multiple genetic lesions can contribute to complex clinical pathologies.