[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development].

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

[Effect of captopril on platelet cytosolic [Ca2+]i and plasma TXA2/PGI2 in renovascular hypertensive rats].

AIM: To study the effect of captopril (Cap) on platelet cytosolic free calcium concentration ([Ca2+]i), platelet aggregation (PAg), and plasma TXA2/PGI2 ratio in the renovascular hypertensive rats. METHODS: Blood pressure was measured once a week by tail-cuff microphonic manometer. Platelet [Ca2+]i was measured by Fura 2-AM. Plasma angiotensin II (Ang), thromboxane A2 (TXA2), and prostacycline (PGI2) were measured by radioimmunoassay. RESULTS: Platelet [Ca2+]i and PAg increased (P < 0.01), while plasma Ang and TXA2/PGI2 ratio elevated (P < 0.05) in the renovascular hypertensive rats; platelet [Ca2+]i and plasma TXA2/PGI2 ratio reduced markedly after i.g. Cap 100 mg.kg-1.d-1 compared with saline for 2 wk. CONCLUSION: The altered TXA2/PGI2 after Cap treatment contributed to the improvement of the platelet [Ca2+]i and PAg.

Interspinous process segmental instrumentation with bone-button-wire for correction of scoliosis.

From May 1985 to May 1988, 55 patients with scoliosis were given interspinous process segmental spinal instrumentation with bone button-wire. The Harrington distraction rod and Luque's rod were placed separately in the concave and convex sides of the curvature fixed with bone button-wire. The fixations were subjected to biomechanical analysis, and the patients were followed up for an average of 18 months with satisfactory results. The curves were corrected from 69.4 degrees to 33.2 degrees, with a corrective rate of 47.8%. The merits of this procedure lie in (1) no injury to the spinal cord and minimal neurological complications, (2) strong fixation for correcting deformities, and (3) minimal blood loss and short time for operation.

The treatment of chronic hematogenous osteomyelitis.

Eighty-five patients with a total of 103 foci of chronic hematogenous osteomyelitis were treated in the period from 1965-1982. Only patients who had been followed for two or more years of treatment were included in the series for evaluation. All foci were treated surgically with thorough debridement. According to the management of the wounds, patients were divided into three groups: wound healing by secondary intention in cases where skin closure was impossible; primary closure of wound with or without pedicle muscle transfer in cases of a small debrided cavity or in cases where a nearby skeletal muscle is available; and closed irrigation and suction drainage of the wound cavity. After a long-term follow-up period, satisfactory results to varying degrees were obtained in each group. Closed intermittent irrigation and suction drainage with high concentrations of antibiotic solutions gave the best results. In instances of failure, the causes may be due to inadequate removal of infected sclerotic bone and sequestra, obstruction of drainage tubes, resistance to antibiotics, or inadequate systemic antibiotic treatment. The use of myocutaneous flap transference to close the postoperative wound of chronic osteomyelitis was introduced, and preliminary results are encouraging.